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GPATCH2 G-patch domain containing 2 [ Homo sapiens (human) ]

Gene ID: 55105, updated on 13-Mar-2020

Summary

Official Symbol
GPATCH2provided by HGNC
Official Full Name
G-patch domain containing 2provided by HGNC
Primary source
HGNC:HGNC:25499
See related
Ensembl:ENSG00000092978 MIM:616836
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Pfa1; CT110; GPATC2; PPP1R30
Summary
The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Expression
Ubiquitous expression in testis (RPKM 2.6), thyroid (RPKM 1.9) and 25 other tissues See more
Orthologs

Genomic context

See GPATCH2 in Genome Data Viewer
Location:
1q41
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (217426992..217631090, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (217603834..217804426, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985461 Neighboring gene uncharacterized LOC105372920 Neighboring gene spermatogenesis associated 17 Neighboring gene SPATA17 antisense RNA 1 Neighboring gene ubiquitin B pseudogene 2

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10252, FLJ21048, FLJ33578, FLJ41751, MGC74998, DKFZp686H07113

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
negative regulation of phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
G patch domain-containing protein 2
Names
cancer/testis antigen 110
protein phosphatase 1, regulatory subunit 30

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.

Genomic

  1. NG_053034.1 RefSeqGene

    Range
    5013..209111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001297754.3NP_001284683.1  G patch domain-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001284683.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the 3' coding region and differs in the 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK001114, BC042193, BC063474, DB074192
    Consensus CDS
    CCDS73031.1
    UniProtKB/Swiss-Prot
    Q9NW75
    Related
    ENSP00000355901.3, ENST00000366934.3
  2. NM_018040.5NP_060510.1  G patch domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_060510.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC096641, AK001114, AL354659, CA311820
    Consensus CDS
    CCDS1518.1
    UniProtKB/Swiss-Prot
    Q9NW75
    Related
    ENSP00000355902.3, ENST00000366935.8
    Conserved Domains (1) summary
    pfam01585
    Location:468511
    G-patch; G-patch domain

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
    217426992..217631090 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509691.3XP_011507993.1  G patch domain-containing protein 2 isoform X4

    Conserved Domains (1) summary
    pfam01585
    Location:430473
    G-patch; G-patch domain
  2. XM_011509690.3XP_011507992.1  G patch domain-containing protein 2 isoform X2

    Conserved Domains (1) summary
    pfam01585
    Location:454497
    G-patch; G-patch domain
  3. XM_011509689.3XP_011507991.1  G patch domain-containing protein 2 isoform X1

    Conserved Domains (1) summary
    pfam01585
    Location:491534
    G-patch; G-patch domain
  4. XM_017001592.2XP_016857081.1  G patch domain-containing protein 2 isoform X3

  5. XM_011509693.3XP_011507995.1  G patch domain-containing protein 2 isoform X5

  6. XM_017001593.2XP_016857082.1  G patch domain-containing protein 2 isoform X6

  7. XM_011509694.3XP_011507996.1  G patch domain-containing protein 2 isoform X7

RNA

  1. XR_921858.3 RNA Sequence

  2. XR_921856.3 RNA Sequence

  3. XR_247030.4 RNA Sequence

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