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SH2D1B SH2 domain containing 1B [ Homo sapiens (human) ]

Gene ID: 117157, updated on 22-Aug-2020

Summary

Official Symbol
SH2D1Bprovided by HGNC
Official Full Name
SH2 domain containing 1Bprovided by HGNC
Primary source
HGNC:HGNC:30416
See related
Ensembl:ENSG00000198574 MIM:608510
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
EAT2
Summary
By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008]
Expression
Broad expression in spleen (RPKM 4.0), bone marrow (RPKM 1.8) and 14 other tissues See more
Orthologs

Genomic context

See SH2D1B in Genome Data Viewer
Location:
1q23.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (162395268..162412136, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162365056..162381928, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene spermatogenesis associated 46 Neighboring gene chromosome 1 open reading frame 226 Neighboring gene SLAM family member 6 pseudogene 1 Neighboring gene uncharacterized LOC105371497 Neighboring gene U2AF homology motif kinase 1

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

Phenotypes

Associated conditions

Description Tests
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
leukocyte activation involved in immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of innate immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of natural killer cell mediated immunity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of immune response TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
SH2 domain-containing protein 1B
Names
EAT-2
EWS/FLI1-activated transcript 2
SH2 domain-containing molecule EAT2

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_053282.5NP_444512.2  SH2 domain-containing protein 1B

    See identical proteins and their annotated locations for NP_444512.2

    Status: VALIDATED

    Source sequence(s)
    AL512785
    Consensus CDS
    CCDS30928.1
    UniProtKB/Swiss-Prot
    O14796
    Related
    ENSP00000356906.2, ENST00000367929.3
    Conserved Domains (1) summary
    cd10342
    Location:1103
    SH2_SAP1; Src homology 2 (SH2) domain found in SLAM-associated protein (SAP)1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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
    162395268..162412136 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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