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    MIA2 MIA SH3 domain ER export factor 2 [ Homo sapiens (human) ]

    Gene ID: 4253, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MIA2provided by HGNC
    Official Full Name
    MIA SH3 domain ER export factor 2provided by HGNC
    Primary source
    HGNC:HGNC:18432
    See related
    Ensembl:ENSG00000150527 MIM:602132; AllianceGenome:HGNC:18432
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MEA6; MGEA; TALI; MGEA6; CTAGE5; MGEA11
    Summary
    This gene encodes s receptor in the endoplasmic reticulum, which plays a role in the export of large pre-chylomicrons and pre-very low density lipoproteins (pre-VLDLs). Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species (TANGO1-like or TALI). Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in small intestine (RPKM 22.6), duodenum (RPKM 22.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MIA2 in Genome Data Viewer
    Location:
    14q21.1
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (39233915..39388522)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (33422576..33577145)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (39703119..39857726)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene transmembrane protein 92 pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:39672946-39674145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8289 Neighboring gene YTH domain family member 2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:39735794-39736376 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:39736377-39736957 Neighboring gene MIA2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:39839799-39840298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:39839297-39839798 Neighboring gene GLRX5 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8290 Neighboring gene uncharacterized LOC105370461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5691 Neighboring gene coilin pseudogene 1 Neighboring gene F-box protein 33 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8291 Neighboring gene uncharacterized LOC105370460 Neighboring gene uncharacterized LOC112267899

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. cDNA cloning and chromosomal mapping of a predicted coiled-coil proline-rich protein immunogenic in meningioma patients. Heckel D, et al. Hum Mol Genet, 1997 Nov. PMID 9356211
    2. A common genetic variation of melanoma inhibitory activity-2 labels a subtype of pancreatic adenocarcinoma with high endoplasmic reticulum stress levels. Kong B, et al. Sci Rep, 2015 Feb 6. PMID 25657029, Free PMC Article
    3. The MGEA6 multigene family has an active locus on 14q and at least nine pseudogenes on different chromosomes. Comtesse N, et al. Genomics, 2001 Jul. PMID 11472066
    4. MGEA6 is tumor-specific overexpressed and frequently recognized by patient-serum antibodies. Comtesse N, et al. Oncogene, 2002 Jan 10. PMID 11803467
    5. Protumoral roles of melanoma inhibitory activity 2 in oral squamous cell carcinoma. Kurihara M, et al. Br J Cancer, 2013 Apr 16. PMID 23511560, Free PMC Article

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These data showed that the NRZ tether is required for TANGO1 to assemble into a ring and indicated that stable complexes of TANGO1, cTAGE5 and TANGO1-short, recruit the tether.
      Title: TANGO1 builds a machine for collagen export by recruiting and spatially organizing COPII, tethers and membranes.
    2. TANGO1/CTAGE5 receptor serves as a polyvalent template for assembly of large COPII coats.
      Title: TANGO1/cTAGE5 receptor as a polyvalent template for assembly of large COPII coats.
    3. In this study, we identified specific and critical residues in the Sec12-binding region of cTAGE5 (E75A K76A, K89A, and S97A) and confirmed that cTAGE5-mediated Sec12 accumulation at ER exit sites is required for collagen VII secretion.
      Title: Dual function of cTAGE5 in collagen export from the endoplasmic reticulum.
    4. Data indicate that MIA2 represents a potential novel acute phase protein and MIA2 expression responds to liver damage in chronic liver diseases.
      Title: Specific expression and regulation of the new melanoma inhibitory activity-related gene MIA2 in hepatocytes.
    5. 22 members of an Iranian family with basal ganglia calfication as well as 100 controls were genotyped for the C>G P521A variant of CTAGE5, but none were found.
      Title: Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population.
    6. Findings suggest that the roles of MIA2 might be based on the variety of the integrins and the subtypes of mitogen-activated protein kinase in oral carcinoma.
      Title: Protumoral roles of melanoma inhibitory activity 2 in oral squamous cell carcinoma.
    7. population and bioinformatic analysis of MGEA6 P521A variation as a risk factor for Fahr's disease; genetic screen data show this mutation is very rare; bioinformatics analysis provided conflicting findings
      Title: Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease).
    8. HBx activates hepatoma cell growth and proliferation through repression of the potential tumor suppressor MIA2.
      Title: The X protein of hepatitis B virus activates hepatoma cell proliferation through repressing melanoma inhibitory activity 2 gene.
    9. These findings define an interaction between the common MIA2(I141M) variant and the ER stress/UPR system and specify a subgroup of PDAC patients who are more likely to benefit from adjuvant chemotherapy.
      Title: A common genetic variation of melanoma inhibitory activity-2 labels a subtype of pancreatic adenocarcinoma with high endoplasmic reticulum stress levels.
    10. Sec12 recruitment to endoplasmic reticulum exit sites is organized by its direct interaction with cTAGE5, a previously characterized collagen cargo receptor component, which functions together with TANGO1 at endoplasmic reticulum exit sites.
      Title: Concentration of Sec12 at ER exit sites via interaction with cTAGE5 is required for collagen export.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22404, FLJ31229, FLJ33933, FLJ55352, FLJ94735, FLJ96258, MGC59810, MGC75562, MGC163409, MGC163435, DKFZp313K0722, DKFZp686F2453, DKFZp686M2159, DKFZp779J1922, DKFZp779M1842, DKFZp686F08252

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cargo receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables enzyme activator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lipoprotein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein exit from endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to endoplasmic reticulum exit site IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT involved_in regulation of guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in vesicle cargo loading IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle cargo loading IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endoplasmic reticulum exit site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum exit site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    melanoma inhibitory activity protein 2
    Names
    CTAGE family member 5, ER export factor
    CTAGE family, member 5
    MIA protein 2
    TANGO1-like
    cutaneous T-cell lymphoma-associated antigen 5
    melanoma inhibitory activity 2
    meningioma expressed antigen 6 (coiled-coil proline-rich)
    meningioma-expressed antigen 6/11
    protein cTAGE-5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030349.3 RefSeqGene

      Range
      4995..121774
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001247988.1 → NP_001234917.1  melanoma inhibitory activity protein 2 isoform 5

      See identical proteins and their annotated locations for NP_001234917.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence, lacks an alternate in-frame exon, and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 6. It encodes isoform 5, which is shorter at the N-terminus and lacks two internal segments compared to isoform 6. Variants 5 and 12 both encode the same isoform (5).
      Source sequence(s)
      AF338233, AI521895, AK091252, AL132639, AL833415
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:45 → 470
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_001247989.2 → NP_001234918.1  melanoma inhibitory activity protein 2 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents the longest transcript and encodes the longest isoform (6, also known as TALI).
      Source sequence(s)
      AI521895, AL132639, BC064355, CV809109
      Consensus CDS
      CCDS58316.1
      UniProtKB/TrEMBL
      Q59FD2
      Related
      ENSP00000379462.2, ENST00000396158.6
      Conserved Domains (4) summary
      pfam06409
      Location:403 → 476
      NPIP; Nuclear pore complex interacting protein (NPIP)
      pfam10211
      Location:164 → 230
      Ax_dynein_light; Axonemal dynein light chain
      pfam14662
      Location:325 → 496
      KASH_CCD; Coiled-coil region of CCDC155 or KASH
      pfam15233
      Location:350 → 448
      SYCE1; Synaptonemal complex central element protein 1

    3. NM_001247990.2 → NP_001234919.1  melanoma inhibitory activity protein 2 isoform 7

      See identical proteins and their annotated locations for NP_001234919.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 6. The resulting isoform (7) is shorter at the N-terminus compared to isoform 6.
      Source sequence(s)
      AI521895, AL132639, BC051363, CV809109
      Consensus CDS
      CCDS58317.1
      UniProtKB/TrEMBL
      Q59FD2
      Related
      ENSP00000452562.1, ENST00000556148.5
      Conserved Domains (1) summary
      cl25732
      Location:2 → 424
      SMC_N; RecF/RecN/SMC N terminal domain

    4. NM_001329214.4 → NP_001316143.1  melanoma inhibitory activity protein 2 isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AL132639
      Consensus CDS
      CCDS86384.1
      UniProtKB/Swiss-Prot
      A0A193H6U5, A1L4H0, B3KRA6, B4DQS6, D3DSA6, G3XAC5, O00169, O15320, Q6MZN2, Q6P2R8, Q86TF6, Q8IX92, Q8IX93, Q96PC5, Q9H6C1
      UniProtKB/TrEMBL
      G3V599
      Related
      ENSP00000491014.1, ENST00000640607.2

    5. NM_001354137.2 → NP_001341066.1  melanoma inhibitory activity protein 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 4 and 11, encodes isoform 4.
      Source sequence(s)
      AL132639
      Consensus CDS
      CCDS9676.1
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:45 → 470
      SMC_N; RecF/RecN/SMC N terminal domain

    6. NM_001354138.1 → NP_001341067.1  melanoma inhibitory activity protein 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 4 and 10, encodes isoform 4.
      Source sequence(s)
      AL132639
      Consensus CDS
      CCDS9676.1
      UniProtKB/TrEMBL
      Q59FD2
      Related
      ENSP00000450449.1, ENST00000553352.1
      Conserved Domains (1) summary
      cl25732
      Location:45 → 470
      SMC_N; RecF/RecN/SMC N terminal domain

    7. NM_001354139.2 → NP_001341068.1  melanoma inhibitory activity protein 2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variant 5, encodes isoform 5.
      Source sequence(s)
      AL132639
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:45 → 470
      SMC_N; RecF/RecN/SMC N terminal domain

    8. NM_001354140.2 → NP_001341069.1  melanoma inhibitory activity protein 2 isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variant 14, encodes isoform 10.
      Source sequence(s)
      AL132639
      Consensus CDS
      CCDS86386.1
      UniProtKB/TrEMBL
      Q59FD2
      Related
      ENSP00000450869.1, ENST00000557038.5
      Conserved Domains (1) summary
      cl25732
      Location:87 → 380
      SMC_N; RecF/RecN/SMC N terminal domain

    9. NM_001354141.2 → NP_001341070.1  melanoma inhibitory activity protein 2 isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variant 13, encodes isoform 10.
      Source sequence(s)
      AL132639
      Consensus CDS
      CCDS86386.1
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:87 → 380
      SMC_N; RecF/RecN/SMC N terminal domain

    10. NM_001354142.1 → NP_001341071.1  melanoma inhibitory activity protein 2 isoform 11

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15), as well as variants 16 and 17, encodes isoform 11.
      Source sequence(s)
      AL132639
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:87 → 380
      SMC_N; RecF/RecN/SMC N terminal domain

    11. NM_001354143.1 → NP_001341072.1  melanoma inhibitory activity protein 2 isoform 11

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 15 and 17, encodes isoform 11.
      Source sequence(s)
      AL132639
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:87 → 380
      SMC_N; RecF/RecN/SMC N terminal domain

    12. NM_001354144.2 → NP_001341073.1  melanoma inhibitory activity protein 2 isoform 11

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variants 15 and 16, encodes isoform 11.
      Source sequence(s)
      AL132639
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:87 → 380
      SMC_N; RecF/RecN/SMC N terminal domain

    13. NM_001354145.2 → NP_001341074.1  melanoma inhibitory activity protein 2 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL132639, AL157791
      Conserved Domains (1) summary
      cl25732
      Location:87 → 380
      SMC_N; RecF/RecN/SMC N terminal domain

    14. NM_001354146.2 → NP_001341075.1  melanoma inhibitory activity protein 2 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL132639
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:62 → 487
      SMC_N; RecF/RecN/SMC N terminal domain

    15. NM_001354147.1 → NP_001341076.1  melanoma inhibitory activity protein 2 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AL132639
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:112 → 405
      SMC_N; RecF/RecN/SMC N terminal domain

    16. NM_001354148.1 → NP_001341077.1  melanoma inhibitory activity protein 2 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AL132639, AL157791
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:45 → 470
      SMC_N; RecF/RecN/SMC N terminal domain

    17. NM_001354149.1 → NP_001341078.1  melanoma inhibitory activity protein 2 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AL132639
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:112 → 405
      SMC_N; RecF/RecN/SMC N terminal domain

    18. NM_001354150.2 → NP_001341079.1  melanoma inhibitory activity protein 2 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AL132639
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:68 → 493
      SMC_N; RecF/RecN/SMC N terminal domain

    19. NM_001354151.2 → NP_001341080.1  melanoma inhibitory activity protein 2 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AL132639
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:74 → 508
      SMC_N; RecF/RecN/SMC N terminal domain

    20. NM_001354152.3 → NP_001341081.1  melanoma inhibitory activity protein 2 isoform 19

      Status: REVIEWED

      Source sequence(s)
      AL132639
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:74 → 508
      SMC_N; RecF/RecN/SMC N terminal domain

    21. NM_001354153.2 → NP_001341082.1  melanoma inhibitory activity protein 2 isoform 20

      Status: REVIEWED

      Source sequence(s)
      AL132639
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:141 → 434
      SMC_N; RecF/RecN/SMC N terminal domain

    22. NM_001354154.2 → NP_001341083.1  melanoma inhibitory activity protein 2 isoform 21

      Status: REVIEWED

      Source sequence(s)
      AL132639, AL157791
      Consensus CDS
      CCDS86385.1
      UniProtKB/TrEMBL
      Q59FD2
      Related
      ENSP00000339286.5, ENST00000341502.9
      Conserved Domains (1) summary
      cl25732
      Location:74 → 499
      SMC_N; RecF/RecN/SMC N terminal domain

    23. NM_001354155.2 → NP_001341084.1  melanoma inhibitory activity protein 2 isoform 22

      Status: REVIEWED

      Source sequence(s)
      AL132639, AL157791
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:74 → 499
      SMC_N; RecF/RecN/SMC N terminal domain

    24. NM_001354156.2 → NP_001341085.1  melanoma inhibitory activity protein 2 isoform 23

      Status: REVIEWED

      Source sequence(s)
      AL132639
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:1 → 338
      SMC_N; RecF/RecN/SMC N terminal domain

    25. NM_001354157.2 → NP_001341086.1  melanoma inhibitory activity protein 2 isoform 24

      Status: REVIEWED

      Source sequence(s)
      AL132639
      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:141 → 434
      SMC_N; RecF/RecN/SMC N terminal domain

    26. NM_005930.4 → NP_005921.2  melanoma inhibitory activity protein 2 isoform 1

      See identical proteins and their annotated locations for NP_005921.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 6. It encodes isoform 1, which lacks an internal segment compared to isoform 6.
      Source sequence(s)
      AB209528, AL132639, CV809109, U94780
      Consensus CDS
      CCDS9674.1
      UniProtKB/TrEMBL
      Q59FD2
      Related
      ENSP00000280083.3, ENST00000280083.7
      Conserved Domains (4) summary
      pfam06409
      Location:398 → 471
      NPIP; Nuclear pore complex interacting protein (NPIP)
      pfam10211
      Location:159 → 225
      Ax_dynein_light; Axonemal dynein light chain
      pfam14662
      Location:320 → 491
      KASH_CCD; Coiled-coil region of CCDC155 or KASH
      pfam15233
      Location:345 → 443
      SYCE1; Synaptonemal complex central element protein 1

    27. NM_054024.4 → NP_473365.3  melanoma inhibitory activity protein 2 isoform 9 precursor

      See identical proteins and their annotated locations for NP_473365.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) has lacks several 3' exons and differs in the 3' coding region and 3' UTR, compared to variant 6. It encodes isoform 8, which has a shorter and distinct C-terminus, compared to isoform 6.
      Source sequence(s)
      AF390175, AK026057, AL132639, BX495701, BX648228
      Consensus CDS
      CCDS9672.1
      UniProtKB/Swiss-Prot
      Q96PC5
      Related
      ENSP00000280082.3, ENST00000280082.4
      Conserved Domains (1) summary
      cd11892
      Location:31 → 103
      SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein

    28. NM_203354.3 → NP_976229.1  melanoma inhibitory activity protein 2 isoform 2

      See identical proteins and their annotated locations for NP_976229.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 6. It encodes isoform 2, which has a shorter and distinct N-terminus and lacks an internal segment compared to isoform 6.
      Source sequence(s)
      AB209528, AL132639, DA072098
      Consensus CDS
      CCDS9673.1
      UniProtKB/TrEMBL
      Q59FD2
      Related
      ENSP00000343897.3, ENST00000341749.7
      Conserved Domains (3) summary
      pfam06409
      Location:386 → 459
      NPIP; Nuclear pore complex interacting protein (NPIP)
      pfam10211
      Location:147 → 213
      Ax_dynein_light; Axonemal dynein light chain
      pfam15233
      Location:333 → 431
      SYCE1; Synaptonemal complex central element protein 1

    29. NM_203355.3 → NP_976230.1  melanoma inhibitory activity protein 2 isoform 3

      See identical proteins and their annotated locations for NP_976230.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 6. It encodes isoform 3, which lacks two internal segments and is shorter, compared to isoform 6.
      Source sequence(s)
      AL132639, BC029513, CV809109
      Consensus CDS
      CCDS9675.1
      UniProtKB/TrEMBL
      Q59FD2
      Related
      ENSP00000343912.3, ENST00000348007.7
      Conserved Domains (4) summary
      pfam06409
      Location:398 → 471
      NPIP; Nuclear pore complex interacting protein (NPIP)
      pfam10211
      Location:159 → 225
      Ax_dynein_light; Axonemal dynein light chain
      pfam14662
      Location:320 → 491
      KASH_CCD; Coiled-coil region of CCDC155 or KASH
      pfam15233
      Location:345 → 443
      SYCE1; Synaptonemal complex central element protein 1

    30. NM_203356.2 → NP_976231.1  melanoma inhibitory activity protein 2 isoform 4

      See identical proteins and their annotated locations for NP_976231.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence, initiates translation at a downstream start codon, and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 6. It encodes isoform 4, which is shorter at the N-terminus and lacks an internal segment compared to isoform 6. Unlike the other variants, this variant may exhibit testis-specific expression. Variants 4, 10, and 11 all encode the same isoform (4).
      Source sequence(s)
      AF338233, AL132639
      Consensus CDS
      CCDS9676.1
      UniProtKB/TrEMBL
      Q59FD2
      Related
      ENSP00000379468.4, ENST00000396165.8
      Conserved Domains (1) summary
      cl25732
      Location:45 → 470
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. NR_148721.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL132639

    2. NR_148722.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL132639

    3. NR_148723.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL132639

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      39233915..39388522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449592.2 → XP_024305360.1  melanoma inhibitory activity protein 2 isoform X1

      UniProtKB/TrEMBL
      G3V599
      Conserved Domains (2) summary
      cd11892
      Location:31 → 103
      SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein
      COG0419
      Location:682 → 1121
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    2. XM_024449595.2 → XP_024305363.1  melanoma inhibitory activity protein 2 isoform X4

      UniProtKB/TrEMBL
      G3V599
      Conserved Domains (2) summary
      cd11892
      Location:31 → 103
      SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein
      COG0419
      Location:682 → 1121
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    3. XM_024449594.2 → XP_024305362.1  melanoma inhibitory activity protein 2 isoform X3

      UniProtKB/TrEMBL
      G3V599
      Conserved Domains (2) summary
      cd11892
      Location:31 → 103
      SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein
      COG0419
      Location:682 → 1112
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    4. XM_047431398.1 → XP_047287354.1  melanoma inhibitory activity protein 2 isoform X5

    5. XM_024449593.2 → XP_024305361.1  melanoma inhibitory activity protein 2 isoform X2

      UniProtKB/TrEMBL
      G3V599
      Conserved Domains (2) summary
      cd11892
      Location:31 → 103
      SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein
      COG0419
      Location:682 → 1116
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    6. XM_024449596.2 → XP_024305364.1  melanoma inhibitory activity protein 2 isoform X6

      UniProtKB/TrEMBL
      G3V599
      Conserved Domains (2) summary
      cd11892
      Location:31 → 103
      SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein
      COG0419
      Location:682 → 1107
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    7. XM_047431399.1 → XP_047287355.1  melanoma inhibitory activity protein 2 isoform X7

    8. XM_024449597.2 → XP_024305365.1  melanoma inhibitory activity protein 2 isoform X8

      UniProtKB/TrEMBL
      G3V599
      Conserved Domains (2) summary
      cd11892
      Location:31 → 103
      SH3_MIA2; Src Homology 3 domain of Melanoma Inhibitory Activity 2 protein
      COG0419
      Location:682 → 1121
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    9. XM_047431401.1 → XP_047287357.1  melanoma inhibitory activity protein 2 isoform X9

    10. XM_047431402.1 → XP_047287358.1  melanoma inhibitory activity protein 2 isoform X10

    11. XM_017021316.2 → XP_016876805.1  melanoma inhibitory activity protein 2 isoform X13

      UniProtKB/TrEMBL
      Q59FD2

    12. XM_047431403.1 → XP_047287359.1  melanoma inhibitory activity protein 2 isoform X15

    13. XM_047431409.1 → XP_047287365.1  melanoma inhibitory activity protein 2 isoform X21

    14. XM_011536778.3 → XP_011535080.1  melanoma inhibitory activity protein 2 isoform X14

      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (3) summary
      pfam06409
      Location:395 → 468
      NPIP; Nuclear pore complex interacting protein (NPIP)
      pfam10211
      Location:156 → 222
      Ax_dynein_light; Axonemal dynein light chain
      pfam15233
      Location:342 → 440
      SYCE1; Synaptonemal complex central element protein 1

    15. XM_017021324.3 → XP_016876813.1  melanoma inhibitory activity protein 2 isoform X22

      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:5 → 433
      SMC_N; RecF/RecN/SMC N terminal domain

    16. XM_017021317.3 → XP_016876806.1  melanoma inhibitory activity protein 2 isoform X16

      UniProtKB/TrEMBL
      Q59FD2

    17. XM_024449598.2 → XP_024305366.1  melanoma inhibitory activity protein 2 isoform X22

      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:5 → 433
      SMC_N; RecF/RecN/SMC N terminal domain

    18. XM_017021330.2 → XP_016876819.1  melanoma inhibitory activity protein 2 isoform X16

      UniProtKB/TrEMBL
      Q59FD2

    19. XM_017021315.3 → XP_016876804.1  melanoma inhibitory activity protein 2 isoform X12

      UniProtKB/TrEMBL
      Q59FD2

    20. XM_047431408.1 → XP_047287364.1  melanoma inhibitory activity protein 2 isoform X20

    21. XM_017021318.2 → XP_016876807.1  melanoma inhibitory activity protein 2 isoform X16

      UniProtKB/TrEMBL
      Q59FD2

    22. XM_017021319.2 → XP_016876808.1  melanoma inhibitory activity protein 2 isoform X16

      UniProtKB/TrEMBL
      Q59FD2

    23. XM_047431406.1 → XP_047287362.1  melanoma inhibitory activity protein 2 isoform X18

    24. XM_047431405.1 → XP_047287361.1  melanoma inhibitory activity protein 2 isoform X17

    25. XM_047431411.1 → XP_047287367.1  melanoma inhibitory activity protein 2 isoform X23

    26. XM_047431410.1 → XP_047287366.1  melanoma inhibitory activity protein 2 isoform X22

    27. XM_017021314.2 → XP_016876803.1  melanoma inhibitory activity protein 2 isoform X11

      UniProtKB/TrEMBL
      Q59FD2

    28. XM_047431407.1 → XP_047287363.1  melanoma inhibitory activity protein 2 isoform X19

    29. XM_017021323.2 → XP_016876812.1  melanoma inhibitory activity protein 2 isoform X22

      UniProtKB/TrEMBL
      Q59FD2
      Conserved Domains (1) summary
      cl25732
      Location:5 → 433
      SMC_N; RecF/RecN/SMC N terminal domain

    30. XM_047431412.1 → XP_047287368.1  melanoma inhibitory activity protein 2 isoform X24

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      33422576..33577145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376085.1 → XP_054232060.1  melanoma inhibitory activity protein 2 isoform X1

    2. XM_054376088.1 → XP_054232063.1  melanoma inhibitory activity protein 2 isoform X4

    3. XM_054376087.1 → XP_054232062.1  melanoma inhibitory activity protein 2 isoform X3

    4. XM_054376089.1 → XP_054232064.1  melanoma inhibitory activity protein 2 isoform X5

    5. XM_054376086.1 → XP_054232061.1  melanoma inhibitory activity protein 2 isoform X2

    6. XM_054376090.1 → XP_054232065.1  melanoma inhibitory activity protein 2 isoform X6

    7. XM_054376091.1 → XP_054232066.1  melanoma inhibitory activity protein 2 isoform X7

    8. XM_054376092.1 → XP_054232067.1  melanoma inhibitory activity protein 2 isoform X8

    9. XM_054376093.1 → XP_054232068.1  melanoma inhibitory activity protein 2 isoform X9

    10. XM_054376094.1 → XP_054232069.1  melanoma inhibitory activity protein 2 isoform X10

    11. XM_054376097.1 → XP_054232072.1  melanoma inhibitory activity protein 2 isoform X13

    12. XM_054376099.1 → XP_054232074.1  melanoma inhibitory activity protein 2 isoform X15

    13. XM_054376107.1 → XP_054232082.1  melanoma inhibitory activity protein 2 isoform X21

    14. XM_054376098.1 → XP_054232073.1  melanoma inhibitory activity protein 2 isoform X14

    15. XM_054376108.1 → XP_054232083.1  melanoma inhibitory activity protein 2 isoform X22

    16. XM_054376100.1 → XP_054232075.1  melanoma inhibitory activity protein 2 isoform X16

    17. XM_054376110.1 → XP_054232085.1  melanoma inhibitory activity protein 2 isoform X22

    18. XM_054376096.1 → XP_054232071.1  melanoma inhibitory activity protein 2 isoform X12

    19. XM_054376106.1 → XP_054232081.1  melanoma inhibitory activity protein 2 isoform X20

    20. XM_054376113.1 → XP_054232088.1  melanoma inhibitory activity protein 2 isoform X16

    21. XM_054376101.1 → XP_054232076.1  melanoma inhibitory activity protein 2 isoform X16

    22. XM_054376102.1 → XP_054232077.1  melanoma inhibitory activity protein 2 isoform X16

    23. XM_054376104.1 → XP_054232079.1  melanoma inhibitory activity protein 2 isoform X18

    24. XM_054376103.1 → XP_054232078.1  melanoma inhibitory activity protein 2 isoform X17

    25. XM_054376112.1 → XP_054232087.1  melanoma inhibitory activity protein 2 isoform X23

    26. XM_054376111.1 → XP_054232086.1  melanoma inhibitory activity protein 2 isoform X22

    27. XM_054376095.1 → XP_054232070.1  melanoma inhibitory activity protein 2 isoform X11

    28. XM_054376105.1 → XP_054232080.1  melanoma inhibitory activity protein 2 isoform X19

    29. XM_054376109.1 → XP_054232084.1  melanoma inhibitory activity protein 2 isoform X22

    30. XM_054376114.1 → XP_054232089.1  melanoma inhibitory activity protein 2 isoform X24

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_203357.1: Suppressed sequence

      Description
      NM_203357.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PC5.4 GenPept UniProtKB/Swiss-Prot:Q96PC5

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