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    GIPC2 GIPC PDZ domain containing family member 2 [ Homo sapiens (human) ]

    Gene ID: 54810, updated on 26-Nov-2024

    Summary

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    Official Symbol
    GIPC2provided by HGNC
    Official Full Name
    GIPC PDZ domain containing family member 2provided by HGNC
    Primary source
    HGNC:HGNC:18177
    See related
    Ensembl:ENSG00000137960 MIM:619089; AllianceGenome:HGNC:18177
    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
    SEMCAP2; SEMCAP-2
    Summary
    Enables identical protein binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in kidney (RPKM 20.2), small intestine (RPKM 19.8) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GIPC2 in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (78044970..78138444)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (77883878..77977248)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (78510654..78604128)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1228 Neighboring gene far upstream element binding protein 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member B4 Neighboring gene nitrilase family member 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1230 Neighboring gene signal sequence receptor subunit 3 pseudogene Neighboring gene RNA, U6 small nuclear 1102, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 22 Neighboring gene uncharacterized LOC107984997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1233 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:78620646-78621238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:78624292-78624822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:78624823-78625353 Neighboring gene ring finger protein, transmembrane 1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:78677659-78678159 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:78702835-78703748 Neighboring gene uncharacterized MGC27382 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:78805687-78806886

    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. Molecular cloning and characterization of human GIPC2, a novel gene homologous to human GIPC1 and Xenopus Kermit. Kirikoshi H, et al. Int J Oncol, 2002 Mar. PMID 11836570
    2. GIPC2 interacts with Fzd7 to promote prostate cancer metastasis by activating WNT signaling. Wang L, et al. Oncogene, 2022 Apr. PMID 35347223, Free PMC Article
    3. GIPC2 is an endocrine-specific tumor suppressor gene for both sporadic and hereditary tumors of RET- and SDHB-, but not VHL-associated clusters of pheochromocytoma/paraganglioma. Dong Y, et al. Cell Death Dis, 2021 May 4. PMID 33947839, Free PMC Article
    4. GIPC gene family (Review). Katoh M. Int J Mol Med, 2002 Jun. PMID 12011974
    5. Host PDZ-containing proteins targeted by SARS-CoV-2. Caillet-Saguy C, et al. FEBS J, 2021 Sep. PMID 33864728, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GIPC2 interacts with Fzd7 to promote prostate cancer metastasis by activating WNT signaling.
      Title: GIPC2 interacts with Fzd7 to promote prostate cancer metastasis by activating WNT signaling.
    2. GIPC2 is an endocrine-specific tumor suppressor gene for both sporadic and hereditary tumors of RET- and SDHB-, but not VHL-associated clusters of pheochromocytoma/paraganglioma.
      Title: GIPC2 is an endocrine-specific tumor suppressor gene for both sporadic and hereditary tumors of RET- and SDHB-, but not VHL-associated clusters of pheochromocytoma/paraganglioma.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
    4. Molecular cloning and characterization of human GIPC2, a novel gene homologous to human GIPC1 and Xenopus Kermit
      Title: Molecular cloning and characterization of human GIPC2, a novel gene homologous to human GIPC1 and Xenopus Kermit.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    PDZ domain-containing protein GIPC2
    Names
    PDZ domain protein GIPC2
    epididymis secretory sperm binding protein
    semaF cytoplasmic domain associated protein 2
    semaphorin cytoplasmic domain associated protein 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_001304725.2 → NP_001291654.1  PDZ domain-containing protein GIPC2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon in place of that of variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC093118, AC103591
      UniProtKB/Swiss-Prot
      Q8TF65
      Conserved Domains (1) summary
      cd00992
      Location:41 → 105
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    2. NM_017655.6 → NP_060125.4  PDZ domain-containing protein GIPC2 isoform 1

      See identical proteins and their annotated locations for NP_060125.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC093118, AC103591
      Consensus CDS
      CCDS685.1
      UniProtKB/Swiss-Prot
      Q8IYD3, Q8TF65, Q9NXS7
      UniProtKB/TrEMBL
      A0A384P5H2
      Related
      ENSP00000359795.3, ENST00000370759.4
      Conserved Domains (1) summary
      cd00992
      Location:115 → 179
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      78044970..78138444
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423230.1 → XP_047279186.1  PDZ domain-containing protein GIPC2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      77883878..77977248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337206.1 → XP_054193181.1  PDZ domain-containing protein GIPC2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TF65.1 GenPept UniProtKB/Swiss-Prot:Q8TF65

    Gene LinkOut

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

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