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

Gene ID: 54810, updated on 17-Jun-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, Apr 2022]
Expression
Broad expression in kidney (RPKM 20.2), small intestine (RPKM 19.8) and 18 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (78044970..78138444)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (77883878..77977248)
105.20220307 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 (30) 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20075

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
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_2023_10

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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