Sh2d1a
Gene Detail

Symbol Name ID

Sh2d1a SH2 domain protein 1A MGI:1328352

Synonyms

Duncan disease homolog, SAP

Feature Type

protein coding gene

Genetic Map

Chromosome X

23.20 cM, cytoband A5
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

ChrX:42502453-42523697 bp, + strand From VEGA annotation of GRCm38   21245 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:1762  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: SH2 domain protein 1A
Gene Tree: Sh2d1a

Human homologs

Human Homolog		SH2D1A, SH2 domain containing 1A
NCBI Gene ID		4068
neXtProt AC		NX_O60880
Human Synonyms		DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SAP/SH2D1A, XLP, XLPD
Human Chr (Location)		Xq25; chrX:123480132-123507010 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SH2D1A

Alleles and phenotypes

All alleles(10) : Targeted(9) Spontaneous(1)
 

Mice homozygous for disruptions in this gene display various immune system abnormalities.

 
Human Diseases Modeled Using Mouse Sh2d1a (1)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (6 annotations)

Process	cell-cell signaling, cellular defense response, ...
Component	cytoplasm
Function	SH3/SH2 adaptor activity

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (1 records)
cDNA source data(11)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(14) Genomic(2) cDNA(12)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000017466 (Evidence)
Ensembl Gene Model	ENSMUSG00000005696 (Evidence)
Entrez Gene	20400 (Evidence)
UniGene	441197
DFCI	TC1587159, TC1655351
DoTS	DT.40162701, DT.482762
NIA Mouse Gene Index	U019824
Consensus CDS Project	CCDS30099.1
International Mouse Knockout Project Status	Sh2d1a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017466	VEGA Gene Model | MGI Sequence Detail	21245	C57BL/6J
transcript	OTTMUST00000042411	VEGA | MGI Sequence Detail	883	Not Applicable
polypeptide	OTTMUSP00000019062	VEGA | MGI Sequence Detail	126	Not Applicable

All sequences(44) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(54 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000980	SH2 domain
InterPro	IPR017289	SH2 protein 1A
Protein Ontology	PR:000014812	SH2 domain-containing protein 1A

References

(Earliest) J:50127 Sayos J, et al., The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM [see comments]. Nature. 1998 Oct 1;395(6701):462-9
(Latest) J:193822 Lumayag S, et al., Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):E507-16
All references(92)