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Sh2b1 Gene Detail
Summary
  • Symbol
    Sh2b1
  • Name
    SH2B adaptor protein 1
  • Synonyms
    Irip, SH2-B, SH2-Bb, Sh2bpsm1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1201407
    NCBI Gene: 20399
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:126066166-126074596 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 69.06 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    151 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1201407
 protein coding gene Chr7:126066165-126075882 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032981
 protein coding gene Chr7:130741051-130749493 (-)
A/J MGP_AJ_G0032964
 protein coding gene Chr7:127286726-127295144 (-)
AKR/J MGP_AKRJ_G0032896
 protein coding gene Chr7:130506737-130515462 (-)
BALB/cJ MGP_BALBcJ_G0032969
 protein coding gene Chr7:126943815-126952284 (-)
C3H/HeJ MGP_C3HHeJ_G0032679
 protein coding gene Chr7:130432261-130440691 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033475
 protein coding gene Chr7:135830233-135838663 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030447
 protein coding gene Chr7:128482219-128490593 (-)
CAST/EiJ MGP_CASTEiJ_G0032007
 protein coding gene Chr7:122221172-122229561 (-)
CBA/J MGP_CBAJ_G0032652
 protein coding gene Chr7:140408707-140417137 (-)
DBA/2J MGP_DBA2J_G0032804
 protein coding gene Chr7:125259780-125268210 (-)
FVB/NJ MGP_FVBNJ_G0032757
 protein coding gene Chr7:125111380-125119818 (-)
LP/J MGP_LPJ_G0032898
 protein coding gene Chr7:132207096-132215541 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032789
 protein coding gene Chr7:141592613-141601070 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033495
 protein coding gene Chr7:129524196-129532614 (-)
PWK/PhJ MGP_PWKPhJ_G0031715
 protein coding gene Chr7:118246227-118254865 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031561
 protein coding gene Chr7:116344665-116353027 (-)
WSB/EiJ MGP_WSBEiJ_G0032120
 protein coding gene Chr7:130487895-130496313 (-)



Homology
more
  • Human Ortholog
    SH2B1, SH2B adaptor protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SH2B1, SH2B adaptor protein 1
  • Synonyms
    PSM, SH2B
  • Links
    NCBI Gene ID: 25970
    neXtProt AC: NX_Q9NRF2
    UniProt: Q9NRF2

  • Chr Location
    16p11.2; chr16:28846600-28874212 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    37 phenotypes from 4 alleles in 4 genetic backgrounds
    25 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.
Homozygous null mice are infertile. Female mice have small, anovulatory ovaries with reduced numbers of follicles and male mice exhibit small testes and sperm deficits. Mice homozygous for a floxed allele activated in the pancreas exhibit impaired glucose homeostasis when fed a high fat diet.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    9
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
    707
  • Tissues
    1
  • cDNA Data
    98
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030733 Ensembl Gene Model | MGI Sequence Detail 8431 C57BL/6J ±  kb
    transcript ENSMUST00000205733 Ensembl | MGI Sequence Detail 2956 Not Applicable  
    polypeptide ENSMUSP00000145754 Ensembl | MGI Sequence Detail 756 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 100
      cDNA 98
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2141935, MGI:894322
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 3
      Gene Ontology 9
      Phenotypes 25
    • Earliest
      J:46214 Riedel H, et al., PSM, an insulin-dependent, pro-rich, PH, SH2 domain containing partner of the insulin receptor. J Biochem. 1997 Dec;122(6):1105-13
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory