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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
  • Gene Overview
    MyGene.info: SH2B1
Location & Maps
more
  • Sequence Map
    Chr7:126466994-126475424 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8431 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 69.06 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SH2B1, SH2B adaptor protein 1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    SH2B1, SH2B adaptor protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    PSM, SH2B
  • Links
    NCBI Gene ID: 25970
    neXtProt AC: NX_Q9NRF2

  • Chr Location
    16p11.2; chr16:28846600-28874213 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 3 alleles in 3 genetic backgrounds
    13 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
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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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000058215 VEGA Gene Model | MGI Sequence Detail 8431 C57BL/6J ±  kb
transcript OTTMUST00000142963 VEGA | MGI Sequence Detail 2956 Not Applicable  
polypeptide OTTMUSP00000074552 VEGA | MGI Sequence Detail 756 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    17 from dbSNP Build 142
  • PCR
Protein
Information
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Molecular
Reagents
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  • All nucleic 99
    cDNA 97
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
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MGI:2141935, MGI:894322
References
more
  • Summaries
    All 45
    Developmental Gene Expression 3
    Gene Ontology 6
    Phenotypes 13
  • 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:214138 Chen Z, et al., SH2B1 in beta-cells promotes insulin expression and glucose metabolism in mice. Mol Endocrinol. 2014 May;28(5):696-705

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
08/23/2016
MGI 6.05
The Jackson Laboratory