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

Gene ID: 54810, updated on 13-Mar-2020

Summary

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
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
Expression
Broad expression in kidney (RPKM 20.2), small intestine (RPKM 19.8) and 18 other tissues See more
Orthologs

Genomic context

See GIPC2 in Genome Data Viewer
Location:
1p31.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (78044970..78138444)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (78510646..78604129)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes 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 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 ring finger protein, transmembrane 1 pseudogene 2 Neighboring gene uncharacterized MGC27382

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20075

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 

General protein information

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)

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_001304725.2NP_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:41105
    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_017655.6NP_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
    Q8TF65
    Related
    ENSP00000359795.3, ENST00000370759.4
    Conserved Domains (1) summary
    cd00992
    Location:115179
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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