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SH2D4A SH2 domain containing 4A [ Homo sapiens (human) ]

Gene ID: 63898, updated on 3-May-2020

Summary

Official Symbol
SH2D4Aprovided by HGNC
Official Full Name
SH2 domain containing 4Aprovided by HGNC
Primary source
HGNC:HGNC:26102
See related
Ensembl:ENSG00000104611 MIM:614968
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
SH2A; PPP1R38
Expression
Ubiquitous expression in ovary (RPKM 11.6), stomach (RPKM 9.2) and 22 other tissues See more
Orthologs

Genomic context

See SH2D4A in Genome Data Viewer
Location:
8p21.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (19313570..19396218)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (19171081..19253729)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379300 Neighboring gene uncharacterized LOC105379306 Neighboring gene uncharacterized LOC102724881 Neighboring gene chondroitin sulfate N-acetylgalactosaminyltransferase 1 Neighboring gene uncharacterized LOC105379308 Neighboring gene uncharacterized LOC107986920

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 study of primary dentition pit-and-fissure and smooth surface caries.
NHGRI GWA Catalog
Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20967

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
SH2 domain-containing protein 4A
Names
protein SH(2)A
protein phosphatase 1 regulatory subunit 38

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_001174159.1NP_001167630.1  SH2 domain-containing protein 4A isoform a

    See identical proteins and their annotated locations for NP_001167630.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AK024799, BC082982, CA418381
    Consensus CDS
    CCDS6009.1
    UniProtKB/Swiss-Prot
    Q9H788
    Related
    ENSP00000428684.1, ENST00000519207.5
    Conserved Domains (1) summary
    cd10350
    Location:339442
    SH2_SH2D4A; Src homology 2 domain found in the SH2 domain containing protein 4A (SH2D4A)
  2. NM_001174160.1NP_001167631.1  SH2 domain-containing protein 4A isoform b

    See identical proteins and their annotated locations for NP_001167631.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
    Source sequence(s)
    AK024799, AK293301, CA418381, DA952240
    Consensus CDS
    CCDS55206.1
    UniProtKB/Swiss-Prot
    Q9H788
    Related
    ENSP00000429482.1, ENST00000518040.5
    Conserved Domains (1) summary
    cd10350
    Location:294397
    SH2_SH2D4A; Src homology 2 domain found in the SH2 domain containing protein 4A (SH2D4A)
  3. NM_001363110.1NP_001350039.1  SH2 domain-containing protein 4A isoform c

    Status: VALIDATED

    Source sequence(s)
    AK024799, BC082982, CA418381, DA952240, DB183296
    Conserved Domains (2) summary
    cd10350
    Location:312415
    SH2_SH2D4A; Src homology 2 domain found in the SH2 domain containing protein 4A (SH2D4A)
    cl26511
    Location:99251
    Neuromodulin_N; Gap junction protein N-terminal region
  4. NM_001363111.1NP_001350040.1  SH2 domain-containing protein 4A isoform c

    Status: VALIDATED

    Source sequence(s)
    AK024799, BC082982, CA418381, DB183296
    Conserved Domains (2) summary
    cd10350
    Location:312415
    SH2_SH2D4A; Src homology 2 domain found in the SH2 domain containing protein 4A (SH2D4A)
    cl26511
    Location:99251
    Neuromodulin_N; Gap junction protein N-terminal region
  5. NM_022071.4NP_071354.2  SH2 domain-containing protein 4A isoform a

    See identical proteins and their annotated locations for NP_071354.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AK024799, BC082982, CA418381, DA952240
    Consensus CDS
    CCDS6009.1
    UniProtKB/Swiss-Prot
    Q9H788
    Related
    ENSP00000265807.3, ENST00000265807.8
    Conserved Domains (1) summary
    cd10350
    Location:339442
    SH2_SH2D4A; Src homology 2 domain found in the SH2 domain containing protein 4A (SH2D4A)

RNA

  1. NR_156444.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC068880, CA418381, DA952240

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_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    19313570..19396218
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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