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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:41591442-41610974 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 23.20 cM, cytoband A5
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    365 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:41591330-41618207 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SH2D1A, SH2 domain containing 1A
  • 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:124227868-124373197 (+)  GRCh38
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
    117 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
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
neoplasm
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
    19
  • GO References
    11
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    708
  • Tissues
    1
  • cDNA Data
    12
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 16
      Genomic 2
      cDNA 13
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 150
      Developmental Gene Expression 1
      Diseases 5
      Gene Ontology 11
      Phenotypes 117
    • 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:354962 Akama-Garren EH, et al., T cell help shapes B cell tolerance. Sci Immunol. 2024 Feb 16;9(92):eadj7029
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory