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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
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:42502565-42522097 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 23.20 cM, cytoband A5
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    54 from dbSNP Build 142
  • Strain Annotations
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1328352
protein coding gene ChrX:42502453-42529330 (.)
129S1/SvImJ no annotation
A/J no annotation
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ MGP_C3HHeJ_G0035350
protein coding gene ChrX:37880227-37906999 (+)
C57BL/6NJ no annotation
CAROLI/EiJ MGP_CAROLIEiJ_G0033027
protein coding gene ChrX:35670036-35684820 (+)
CAST/EiJ no annotation
CBA/J no annotation
DBA/2J no annotation
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ no annotation
NZO/HlLtJ no annotation
PWK/PhJ MGP_PWKPhJ_G0034340
protein coding gene ChrX:25278967-25307220 (+)
SPRET/EiJ no annotation
WSB/EiJ no annotation



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
    UniProt: O60880

  • Chr Location
    Xq25; chrX:124346282-124373160 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
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
less
  • Phenotype Summary
    44 phenotypes from 8 alleles in 18 genetic backgrounds
    14 phenotypes from multigenic genotypes
    91 phenotype references
Phenotype Overview

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

Click cells to view annotations.
Mice homozygous for disruptions in this gene display various immune system abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 20400 NCBI Gene Model | MGI Sequence Detail 19533 C57BL/6J ±  kb
transcript NM_001313688 RefSeq | MGI Sequence Detail 942 C57BL/6  
polypeptide O88890 UniProt | EBI | MGI Sequence Detail 126 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    Genomic 2
    cDNA 13

    Microarray probesets 4
References
more
  • Summaries
    All 121
    Developmental Gene Expression 1
    Diseases 5
    Gene Ontology 9
    Phenotypes 91
  • 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:262546 Zappasodi R, et al., Non-conventional Inhibitory CD4(+)Foxp3(-)PD-1(hi) T Cells as a Biomarker of Immune Checkpoint Blockade Activity. Cancer Cell. 2018 Jun 11;33(6):1017-1032.e7

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
12/11/2018
MGI 6.13
The Jackson Laboratory