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

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; AllianceGenome:HGNC:30416
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: all
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Genomic context

Location:: 1q23.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (162395268..162412136, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (161739274..161756137, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (162365058..162381926, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

When compared with SAP, the other single SH2 domain protein in human, EAT2 shows similar binding energies to unphosphorylated ligands. This is inconsistent to the previous data showing low affinity of EAT2 toward unphosphorylated peptides compared to SAP which shows high affinity
Title: The X-ray Crystallographic Structure of Human EAT2 (SH2D1B).
Data indicate that Ewing's sarcoma-associated transcript-2 (EAT-2) over-expression increased the anti-tumor activity of NK cells against K562 tumor cell. targets.
Title: Manipulation of EAT-2 expression promotes induction of multiple beneficial regulatory and effector functions of the human innate immune system as a novel immunomodulatory strategy.
EAT-2 mediates its effects in natural killer cells by linking SLAM family receptors to phospholipase Cgamma, calcium fluxes, and Erk kinase.
Title: EAT-2, a SAP-like adaptor, controls NK cell activation through phospholipase Cγ, Ca++, and Erk, leading to granule polarization.
NTB-A-mediated IFN-gamma production was greatly reduced in the absence of SLAM-associated protein (SAP), demonstrating that cytokine production and cytotoxicity are differentially dependent on SAP and possibly EAT-2
Title: Molecular analysis of NTB-A signaling: a role for EAT-2 in NTB-A-mediated activation of human NK cells.

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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
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in leukocyte activation involved in immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of innate immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of natural killer cell mediated immunity	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: SH2 domain-containing protein 1B

Names: EAT-2; EWS/FLI1-activated transcript 2; SH2 domain-containing molecule EAT2

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.