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Sh2d3c Gene Detail
Summary
  • Symbol
    Sh2d3c
  • Name
    SH2 domain containing 3C
  • Synonyms
    Cas/HEF1-associated signal transducer, Chat, Nsp3, SH2-containing Eph receptor-binding protein 1, Shep1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351631
    NCBI Gene: 27387
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:32611072-32645008 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 22.09 cM, cytoband B
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    837 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351631
 protein coding gene Chr2:32611067-32645524 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025619
 protein coding gene Chr2:31210266-31247428 (+)
A/J MGP_AJ_G0025596
 protein coding gene Chr2:29874875-29911618 (+)
AKR/J MGP_AKRJ_G0025566
 protein coding gene Chr2:30948423-30985620 (+)
BALB/cJ MGP_BALBcJ_G0025593
 protein coding gene Chr2:29996147-30030730 (+)
C3H/HeJ MGP_C3HHeJ_G0025353
 protein coding gene Chr2:30831575-30869117 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026037
 protein coding gene Chr2:32147079-32183596 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023446
 protein coding gene Chr2:28594859-28629700 (+)
CAST/EiJ MGP_CASTEiJ_G0024815
 protein coding gene Chr2:30779781-30819038 (+)
CBA/J MGP_CBAJ_G0025331
 protein coding gene Chr2:33379541-33417102 (+)
DBA/2J MGP_DBA2J_G0025464
 protein coding gene Chr2:29639658-29673974 (+)
FVB/NJ MGP_FVBNJ_G0025426
 protein coding gene Chr2:29526769-29561222 (+)
LP/J MGP_LPJ_G0025550
 protein coding gene Chr2:31082940-31121491 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025457
 protein coding gene Chr2:32999123-33035787 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026095
 protein coding gene Chr2:30816855-30854011 (+)
PWK/PhJ MGP_PWKPhJ_G0024563
 protein coding gene Chr2:29545477-29582008 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024363
 protein coding gene Chr2:30973052-31014340 (+)
WSB/EiJ MGP_WSBEiJ_G0024884
 protein coding gene Chr2:31002049-31041832 (+)



Homology
more
  • Human Ortholog
    SH2D3C, SH2 domain containing 3C
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SH2D3C, SH2 domain containing 3C
  • Synonyms
    CHAT, NSP3, PRO34088, SHEP1
  • Links
    NCBI Gene ID: 10044
    neXtProt AC: NX_Q8N5H7
    UniProt: Q8N5H7

  • Chr Location
    9q34.11; chr9:127738317-127778710 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 2 alleles in 2 genetic backgrounds
    8 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 a knock-out allele exhibit neonatal lethality with absence of gastric milk. Surviving mice exhibit abnormal olfactory bulb innervation, fewer gonadotrophin positive cells in the hypothalamus, and decreased testes size.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • GO References
    7
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
    706
  • cDNA Data
    9
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 27387 NCBI Gene Model | MGI Sequence Detail 33937 C57BL/6J ±  kb
    transcript NM_001412523 RefSeq | MGI Sequence Detail 3557 C57BL/6  
    polypeptide Q9QZS8 UniProt | EBI | MGI Sequence Detail 854 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000014816 SH2 domain-containing protein 3C
      (term hierarchy)
    • InterPro Domains
      IPR051853 Adapter protein with SH2 and Ras-GEF domains
      IPR036964 Ras guanine-nucleotide exchange factor, catalytic domain superfamily
      IPR023578 Ras guanine nucleotide exchange factor domain superfamily
      IPR001895 Ras guanine-nucleotide exchange factors catalytic domain
      IPR000980 SH2 domain
      IPR036860 SH2 domain superfamily
      IPR044102 SHEP1/BCAR3/NSP1, SH2 domain
    • GlyGen
      Q9QZS8 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 3
    References
    more
    • Summaries
      All 34
      Developmental Gene Expression 3
      Gene Ontology 7
      Phenotypes 8
    • Earliest
      J:58260 Dodelet VC, et al., A novel signaling intermediate, SHEP1, directly couples Eph receptors to R-Ras and Rap1A. J Biol Chem. 1999 Nov 5;274(45):31941-6
    • Latest
      J:246144 Herbin O, et al., Monocyte Adhesion and Plaque Recruitment During Atherosclerosis Development Is Regulated by the Adapter Protein Chat-H/SHEP1. Arterioscler Thromb Vasc Biol. 2016 Sep;36(9):1791-801
    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