Sh2d1b1 SH2 domain containing 1B1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sh2d1b1provided by MGI
Official Full Name: SH2 domain containing 1B1provided by MGI
Primary source: MGI:MGI:1349420
See related: Ensembl:ENSMUSG00000102418 AllianceGenome:MGI:1349420
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Eat2; EAT-2; Eat2a; EAT-2A; Sh2d1b
Summary: Enables phosphotyrosine residue binding activity. Involved in leukocyte activation involved in immune response and positive regulation of natural killer cell mediated immunity. Acts upstream of or within several processes, including natural killer cell inhibitory signaling pathway; regulation of natural killer cell mediated cytotoxicity; and regulation of peptidyl-tyrosine phosphorylation. Orthologous to human SH2D1B (SH2 domain containing 1B). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in lung adult (RPKM 2.2), spleen adult (RPKM 1.5) and 12 other tissues See more
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Genomic context

Location:: 1 H3; 1 76.84 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (170104887..170114338)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (170277318..170286769)

Chromosome 1 - NC_000067.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EAT-2 negatively regulates cytokine production in dendritic cells downstream of SLAM engagement and a genetic polymorphism that disturbs this process promotes the development of lupus.
Title: Identification of the SLAM Adapter Molecule EAT-2 as a Lupus-Susceptibility Gene That Acts through Impaired Negative Regulation of Dendritic Cell Signaling.
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.
EAT-2A and EAT-2B act as positive regulators of signaling lymphocyte activation molecule family receptor-specific NK cell functions in C57BL/6 mice.
Title: Cutting edge: The adapters EAT-2A and -2B are positive regulators of CD244- and CD84-dependent NK cell functions in the C57BL/6 mouse.
EAT-2 mediates CRACC function. In the absence of EAT-2, CRACC inhibited natural killer cell function.
Title: Influence of CRACC, a SLAM family receptor coupled to the adaptor EAT-2, on natural killer cell function.
Taken together, the data suggest that both EAT-2A and EAT-2B are adapters that recruit Src kinases to SLAM family receptors using a mechanism that is distinct from that of SAP.
Title: Identification and characterization of two related murine genes, Eat2a and Eat2b, encoding single SH2-domain adapters.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phosphotyrosine residue binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in leukocyte activation involved in immune response	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within natural killer cell inhibitory signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of natural killer cell mediated cytotoxicity	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of natural killer cell mediated cytotoxicity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of natural killer cell mediated cytotoxicity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of peptidyl-tyrosine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of type II interferon production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of peptidyl-tyrosine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of natural killer cell mediated cytotoxicity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of natural killer cell mediated immunity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of signal transduction	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of type II interferon production	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: SH2 domain-containing protein 1B

Names: EWS/FLI1 activated transcript 2; SH2 domain protein 1B1

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.

mRNA and Protein(s)

NM_012009.5 → NP_036139.3 SH2 domain-containing protein 1B

See identical proteins and their annotated locations for NP_036139.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer, protein-coding transcript.

Source sequence(s)

AC123650, BC116698

Consensus CDS

CCDS35767.1

UniProtKB/Swiss-Prot

O35324, Q8C268

UniProtKB/TrEMBL

Q149T1, Q45GR7

Related

ENSMUSP00000137069.2, ENSMUST00000179976.3

Conserved Domains (1) summary

cd10342
Location:1 → 103

SH2_SAP1; Src homology 2 (SH2) domain found in SLAM-associated protein (SAP)1

RNA

NR_153837.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC123650, BG146668