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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

HCOP human homology predictions: SH2D1A
Protein SuperFamily: SH2 domain protein 1A
Gene Tree: Sh2d1a

Human
homologs
SH2D1A, SH2 domain containing 1A
Orthology source: HGNC, HomoloGene

IDs:
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.p2

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 in Mice Using Sh2d1a (1)    Mutations 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sh2d1a    NEW 
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 Phenotyping Consortium Status Sh2d1a
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(55) 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:214293 Mathew R, et al., A negative feedback loop mediated by the Bcl6-cullin 3 complex limits Tfh cell differentiation. J Exp Med. 2014 Jun 2;211(6):1137-51
All references(105)
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
08/18/2015
MGI 6.0
The Jackson Laboratory