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    TMEM130 transmembrane protein 130 [ Homo sapiens (human) ]

    Gene ID: 222865, updated on 9-Dec-2024

    Summary

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    Official Symbol
    TMEM130provided by HGNC
    Official Full Name
    transmembrane protein 130provided by HGNC
    Primary source
    HGNC:HGNC:25429
    See related
    Ensembl:ENSG00000166448 AllianceGenome:HGNC:25429
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Located in Golgi apparatus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 64.7), testis (RPKM 27.5) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM130 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (98846490..98870014, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100079811..100103346, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98444113..98467637, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98359523-98360022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98383282-98383812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98383813-98384343 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18397 Neighboring gene RNA, U6 small nuclear 393, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98423765-98424340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26310 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:98445139-98446338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98448603-98449104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98450701-98451422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98466535-98467121 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98467122-98467707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18399 Neighboring gene small nucleolar RNA U13 Neighboring gene small Cajal body-specific RNA 28 Neighboring gene microRNA 3609 Neighboring gene transformation/transcription domain associated protein

    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. The promoter aberrant methylation status of TMEM130 is associated with gastric cancer. Zhang Y, et al. Dig Liver Dis, 2022 Jun. PMID 34162508
    2. DNA methylation-mediated down-regulation of TMEM130 promotes cell migration in breast cancer. Liu H, et al. Acta Histochem, 2021 Dec. PMID 34763116
    3. Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins. Chrystal PW, et al. Molecules, 2021 Jun 9. PMID 34207849, Free PMC Article
    4. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
    5. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The promoter aberrant methylation status of TMEM130 is associated with gastric cancer.
      Title: The promoter aberrant methylation status of TMEM130 is associated with gastric cancer.
    2. DNA methylation-mediated down-regulation of TMEM130 promotes cell migration in breast cancer.
      Title: DNA methylation-mediated down-regulation of TMEM130 promotes cell migration in breast cancer.
    3. Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins.
      Title: Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ42643, DKFZp761L1417

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 130

    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.

    mRNA and Protein(s)

    1. NM_001134450.2 → NP_001127922.1  transmembrane protein 130 isoform a precursor

      See identical proteins and their annotated locations for NP_001127922.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC095044, AL834349, DA144530, DA154119
      Consensus CDS
      CCDS47650.1
      UniProtKB/Swiss-Prot
      A4D266, B7Z364, Q8IY46, Q8N0W9, Q8N3G9, Q8N3R2
      UniProtKB/TrEMBL
      B2R5Y5
      Related
      ENSP00000413163.2, ENST00000416379.6
      Conserved Domains (1) summary
      cd00146
      Location:144 → 210
      PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

    2. NM_001134451.2 → NP_001127923.1  transmembrane protein 130 isoform c precursor

      See identical proteins and their annotated locations for NP_001127923.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site at the end of an exon and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC095044, BC030793, BC037895, DA144530
      Consensus CDS
      CCDS47649.1
      UniProtKB/TrEMBL
      G3V0E7
      Related
      ENSP00000330262.4, ENST00000345589.4
      Conserved Domains (1) summary
      cd00146
      Location:42 → 108
      PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

    3. NM_152913.3 → NP_690877.1  transmembrane protein 130 isoform b precursor

      See identical proteins and their annotated locations for NP_690877.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site at the end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC095044, AL834348, BC030793, DA144530
      Consensus CDS
      CCDS5658.1
      UniProtKB/TrEMBL
      B2R5Y5
      Related
      ENSP00000341256.4, ENST00000339375.9
      Conserved Domains (1) summary
      cd00146
      Location:144 → 210
      PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      98846490..98870014 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      100079811..100103346 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N3G9.1 GenPept UniProtKB/Swiss-Prot:Q8N3G9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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