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    ITPRID2 ITPR interacting domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 6744, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ITPRID2provided by HGNC
    Official Full Name
    ITPR interacting domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:11319
    See related
    Ensembl:ENSG00000138434 MIM:118990; AllianceGenome:HGNC:11319
    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
    Also known as
    CS1; CS-1; KRAP; SSFA2; SPAG13
    Summary
    Enables actin filament binding activity. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 31.5), colon (RPKM 22.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ITPRID2 in Genome Data Viewer
    Location:
    2q31.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (181891730..181930738)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (182381516..182420528)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (182756457..182795465)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16834 Neighboring gene SAP18 pseudogene 2 Neighboring gene RNA, U6atac small nuclear 19, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14896 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:182655450-182656649 Neighboring gene Sharpr-MPRA regulatory region 14191 Neighboring gene MPRA-validated peak3961 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:182740630-182741829 Neighboring gene Sharpr-MPRA regulatory region 15031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12160 Neighboring gene MPRA-validated peak3962 silencer Neighboring gene MPRA-validated peak3963 silencer Neighboring gene MPRA-validated peak3964 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:182819339-182820538 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 1C Neighboring gene keratin 18 pseudogene 29 Neighboring gene RNA, 5S ribosomal pseudogene 113

    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. Human cleavage signal-1 protein; cDNA cloning, transcription and immunological analysis. Javed AA, et al. Gene, 1992 Mar 15. PMID 1555770
    2. Cloning and sequencing of cDNA encoding for a human sperm antigen involved in fertilization. Zhu X, et al. Mol Reprod Dev, 1998 Oct. PMID 9740325
    3. Analysis of KRAP expression and localization, and genes regulated by KRAP in a human colon cancer cell line. Fujimoto T, et al. J Hum Genet, 2007. PMID 17934691
    4. Relationship between phosphorylation of sperm-specific antigen and prognosis of lung adenocarcinoma. Okayama A, et al. J Proteomics, 2016 Apr 29. PMID 26947549
    5. Molecular mechanism of SSFA2 deletion inhibiting cell proliferation and promoting cell apoptosis in glioma. Zhu A, et al. Pathol Res Pract, 2019 Mar. PMID 30712887

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KRAP regulates mitochondrial Ca2+ uptake by licensing IP3 receptor activity and stabilizing ER-mitochondrial junctions.
      Title: KRAP regulates mitochondrial Ca2+ uptake by licensing IP3 receptor activity and stabilizing ER-mitochondrial junctions.
    2. IP3R1 dysregulation via mir-200c-3p/SSFA2 axis contributes to taxol resistance in head and neck cancer.
      Title: IP3R1 dysregulation via mir-200c-3p/SSFA2 axis contributes to taxol resistance in head and neck cancer.
    3. KRAP is required for diffuse and punctate IP3-mediated Ca(2+) liberation and determines the number of functional IP3R channels within clusters.
      Title: KRAP is required for diffuse and punctate IP(3)-mediated Ca(2+) liberation and determines the number of functional IP(3)R channels within clusters.
    4. Circular RNA UBR1 promotes the proliferation, migration, and invasion but represses apoptosis of lung cancer cells via modulating microRNA-545-5p/SSFA2 axis.
      Title: Circular RNA UBR1 promotes the proliferation, migration, and invasion but represses apoptosis of lung cancer cells via modulating microRNA-545-5p/SSFA2 axis.
    5. KRAP tethers IP3 receptors to actin and licenses them to evoke cytosolic Ca(2+) signals.
      Title: KRAP tethers IP(3) receptors to actin and licenses them to evoke cytosolic Ca(2+) signals.
    6. These result reveals us that SSFA2 may act as oncogene to promote the progression of glioma
      Title: Molecular mechanism of SSFA2 deletion inhibiting cell proliferation and promoting cell apoptosis in glioma.
    7. phosphorylation at Ser92 of the sperm-specific antigen 2 (SSFA2)[phospho-SSFA2 (pS92)], was related to poor prognosis.
      Title: Relationship between phosphorylation of sperm-specific antigen and prognosis of lung adenocarcinoma.
    8. the predicted coiled-coil region & the region adjacent to the coiled-coil region of the carboxyl-terminus of KRAP may be crucial for its interaction with the cytoskeleton or directional targeting toward the apical pole in polarized epithelial cells
      Title: KRAS-induced actin-interacting protein: a potent target for obesity, diabetes and cancer.
    9. KRAP is involved in the proper regulation of IP3R-mediated Ca2+ release.
      Title: KRAS-induced actin-interacting protein regulates inositol 1,4,5-trisphosphate-receptor-mediated calcium release.
    10. the critical region of KRAP protein for the regulation of IP(3)R was determined.
      Title: Determination of the critical region of KRAS-induced actin-interacting protein for the interaction with inositol 1,4,5-trisphosphate receptor.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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

    • FLJ35824, FLJ45996, KIAA1927, DKFZp313O1039, DKFZp779G0129

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein ITPRID2
    Names
    ITPR-interacting domain-containing protein 2
    KRAS-induced actin-interacting protein
    cleavage signal-1 protein
    ki-ras-induced actin-interacting protein
    sperm associated antigen 13
    sperm specific antigen 2

    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_001130445.3 → NP_001123917.1  protein ITPRID2 isoform 1

      See identical proteins and their annotated locations for NP_001123917.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC009962, BC052581, BX647967, DB455116, DB462183
      Consensus CDS
      CCDS46467.1
      UniProtKB/Swiss-Prot
      A8K6T0, P28290, Q68DA6, Q7Z7L2, Q8N1L3, Q8N263, Q8N7H2, Q8NEN5, Q96E36, Q96PW1
      UniProtKB/TrEMBL
      B4E2E5
      Related
      ENSP00000388731.2, ENST00000431877.7
      Conserved Domains (2) summary
      pfam14722
      Location:148 → 298
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:866 → 1017
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    2. NM_001287503.2 → NP_001274432.1  protein ITPRID2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AC009962, BC052581, BX647967, DB455116, DB462183
      Consensus CDS
      CCDS74611.1
      UniProtKB/TrEMBL
      B4E2E5, E9PHV5
      Related
      ENSP00000387319.1, ENST00000409001.5
      Conserved Domains (2) summary
      pfam14722
      Location:148 → 298
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:866 → 1017
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    3. NM_001287504.2 → NP_001274433.1  protein ITPRID2 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR, initiates translation at a downstream start codon, and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
      Source sequence(s)
      AC009962, BC052581, BX647967, DB455116, DB462183
      UniProtKB/TrEMBL
      B4E2E5
      Conserved Domains (2) summary
      pfam14722
      Location:1 → 147
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:711 → 864
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    4. NM_001287505.2 → NP_001274434.1  protein ITPRID2 isoform 5

      See identical proteins and their annotated locations for NP_001274434.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks several exons, and its 3'-terminal exon extends past a splice site that is used in variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC009962, AK093143, BM680256, DB455116, DB455803
      Related
      ENST00000480753.1

    5. NM_006751.7 → NP_006742.2  protein ITPRID2 isoform 2

      See identical proteins and their annotated locations for NP_006742.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' region, as compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC009962, BC052581, BX647967, DB455116, DB462183
      Consensus CDS
      CCDS2284.1
      UniProtKB/TrEMBL
      B4E2E5
      Related
      ENSP00000314669.7, ENST00000320370.11
      Conserved Domains (2) summary
      pfam14722
      Location:148 → 298
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:866 → 1017
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    RNA

    1. NR_109843.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC009962, BC052581, BX647967, BX648888, DB455116, DB462183
      Related
      ENST00000440623.5

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      181891730..181930738
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005246813.3 → XP_005246870.1  protein ITPRID2 isoform X2

      UniProtKB/TrEMBL
      B4E2E5
      Conserved Domains (2) summary
      pfam14722
      Location:148 → 298
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:866 → 1017
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    2. XM_017004782.3 → XP_016860271.1  protein ITPRID2 isoform X3

      UniProtKB/TrEMBL
      B4E2E5
      Conserved Domains (2) summary
      pfam14722
      Location:148 → 298
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:866 → 1017
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    3. XM_047445596.1 → XP_047301552.1  protein ITPRID2 isoform X1

    4. XM_047445598.1 → XP_047301554.1  protein ITPRID2 isoform X6

    5. XM_011511701.4 → XP_011510003.1  protein ITPRID2 isoform X5

      Conserved Domains (2) summary
      pfam14722
      Location:148 → 298
      KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
      pfam14723
      Location:866 → 937
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    6. XM_047445597.1 → XP_047301553.1  protein ITPRID2 isoform X4

    7. XM_011511702.4 → XP_011510004.1  protein ITPRID2 isoform X7

      UniProtKB/TrEMBL
      E7EUL7
      Related
      ENSP00000386916.1, ENST00000409136.5
      Conserved Domains (1) summary
      pfam14723
      Location:375 → 526
      SSFA2_C; Sperm-specific antigen 2 C-terminus

    8. XM_047445599.1 → XP_047301555.1  protein ITPRID2 isoform X8

    RNA

    1. XR_923000.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      182381516..182420528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343553.1 → XP_054199528.1  protein ITPRID2 isoform X2

    2. XM_054343554.1 → XP_054199529.1  protein ITPRID2 isoform X3

    3. XM_054343552.1 → XP_054199527.1  protein ITPRID2 isoform X1

    4. XM_054343556.1 → XP_054199531.1  protein ITPRID2 isoform X5

    5. XM_054343557.1 → XP_054199532.1  protein ITPRID2 isoform X6

    6. XM_054343555.1 → XP_054199530.1  protein ITPRID2 isoform X4

    7. XM_054343558.1 → XP_054199533.1  protein ITPRID2 isoform X7

      UniProtKB/TrEMBL
      E7EUL7

    8. XM_054343559.1 → XP_054199534.1  protein ITPRID2 isoform X8

    RNA

    1. XR_008486498.1 RNA Sequence

    2. XR_008486497.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P28290.3 GenPept UniProtKB/Swiss-Prot:P28290

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