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Sh2d1a
Gene Detail
 Symbol
Name
ID
Sh2d1a
SH2 domain containing 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:42502453-42529330 bp, + strand
From VEGA annotation of GRCm38

  26878 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 western clawed frog; 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, XLPD1
Human Chr (Location)  Xq25; chrX:124346282-124373160 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SH2D1A
Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Spontaneous(1) Targeted(10)
 
Mice homozygous for disruptions in this gene display various immune system abnormalities.
 
Human Diseases Modeled Using Mouse Sh2d1a (1)    Alleles Annotated to Human Diseases(3)   
Interactions
Sh2d1a interacts with 85 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process cell-cell signaling, cellular defense response, ...
Component cytoplasm
Function protein binding, 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   Expression Atlas
Molecular
reagents
All nucleic(14) Genomic(2) cDNA(12)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000017466 (Evidence)
Ensembl Gene ModelENSMUSG00000005696 (Evidence)
Entrez Gene20400 (Evidence)
UniGene441197
DFCITC1587159, TC1655351
DoTSDT.40162701, DT.482762
NIA Mouse Gene IndexU019824
Consensus CDS ProjectCCDS30099.1
International Mouse Knockout Project StatusSh2d1a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017466 VEGA Gene Model | MGI Sequence Detail 26878 C57BL/6J ±  kb
transcript OTTMUST00000122885 VEGA | MGI Sequence Detail 1223 Not Applicable 
polypeptide OTTMUSP00000067268 VEGA | MGI Sequence Detail 126 Not Applicable 

For the selected sequences
All sequences(52) RefSeq(2) UniProt(6)
Polymorphisms SNPs within 2kb(73 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:208635 Higdon LE, et al., Receptor revision in CD4 T cells is influenced by follicular helper T cell formation and germinal-center interactions. Proc Natl Acad Sci U S A. 2014 Apr 15;111(15):5652-7
All references(104)
Disease annotation references (5)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/16/2014
MGI 5.19
The Jackson Laboratory