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Sh2d1a Gene Detail
Summary
  • Symbol
    Sh2d1a
  • Name
    SH2 domain containing 1A
  • Synonyms
    Duncan disease homolog, SAP
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328352
    NCBI Gene: 20400
  • Gene Overview
    MyGene.info: SH2D1A
Location & Maps
more
  • Sequence Map
    ChrX:42502453-42529330 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      26878 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SH2D1A, SH2 domain containing 1A
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SH2D1A, SH2 domain containing 1A
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SAP/SH2D1A, XLP, XLPD, XLPD1
  • Links
    NCBI Gene ID: 4068
    neXtProt AC: NX_O60880

  • Chr Location
    Xq25; chrX:124346282-124373160 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Sh2d1a mouse models; 1 with human SH2D1A associations

Human Disease Mouse Models
       Lymphoproliferative Syndrome, X-Linked, 1; XLP1   OMIM: 308240 View 7 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    44 phenotypes from 8 alleles in 18 genetic backgrounds
    14 phenotypes from multigenic genotypes
    77 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Spontaneous
    1
  • Targeted
    10
  • Transgenic
    1
Mice homozygous for disruptions in this gene display various immune system abnormalities.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    73 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 14
    Genomic 2
    cDNA 12

    Microarray probesets 4
References
more
  • Summaries
    All 104
    Developmental Gene Expression 1
    Diseases 5
    Gene Ontology 8
    Phenotypes 77
  • 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:229702 Suan D, et al., T follicular helper cells have distinct modes of migration and molecular signatures in naive and memory immune responses. Immunity. 2015 Apr 21;42(4):704-18

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory