About   Help   FAQ
Sh2b3 Gene Detail
Summary
  • Symbol
    Sh2b3
  • Name
    SH2B adaptor protein 3
  • Synonyms
    Lnk
  • Feature Type
    protein coding gene
  • IDs
    MGI:893598
    NCBI Gene: 16923
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:121953551-121975709 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 61.99 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    395 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_893598
 protein coding gene Chr5:121953544-121975709 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030038
 protein coding gene Chr5:125387460-125409585 (-)
A/J MGP_AJ_G0030003
 protein coding gene Chr5:120229416-120251500 (-)
AKR/J MGP_AKRJ_G0029939
 protein coding gene Chr5:124094278-124116413 (-)
BALB/cJ MGP_BALBcJ_G0030014
 protein coding gene Chr5:121566525-121588691 (-)
C3H/HeJ MGP_C3HHeJ_G0029731
 protein coding gene Chr5:124674279-124698751 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030467
 protein coding gene Chr5:130166560-130190462 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027693
 protein coding gene Chr5:114844392-114866363 (-)
CAST/EiJ MGP_CASTEiJ_G0029140
 protein coding gene Chr5:123774764-123799827 (-)
CBA/J MGP_CBAJ_G0029701
 protein coding gene Chr5:135288786-135313566 (-)
DBA/2J MGP_DBA2J_G0029851
 protein coding gene Chr5:120278261-120300362 (-)
FVB/NJ MGP_FVBNJ_G0029807
 protein coding gene Chr5:119241243-119265228 (-)
LP/J MGP_LPJ_G0029940
 protein coding gene Chr5:125926109-125950475 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029838
 protein coding gene Chr5:139108743-139131937 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030508
 protein coding gene Chr5:123638200-123661198 (-)
PWK/PhJ MGP_PWKPhJ_G0028854
 protein coding gene Chr5:119026289-119048800 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028691
 protein coding gene Chr5:121367568-121395220 (-)
WSB/EiJ MGP_WSBEiJ_G0029215
 protein coding gene Chr5:124311695-124334454 (-)



Homology
more
  • Human Ortholog
    SH2B3, SH2B adaptor protein 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SH2B3, SH2B adaptor protein 3
  • Synonyms
    IDDM20, LNK
  • Links
    NCBI Gene ID: 10019
    neXtProt AC: NX_Q9UQQ2
    UniProt: Q9UQQ2

  • Chr Location
    12q24.12; chr12:111404730-111451623 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Sh2b3 mouse models; 5 with human SH2B3 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 2 alleles in 4 genetic backgrounds
    3 images
    46 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 severe perturbations in hematopoiesis, splenomegaly, and abnormal lymphoid and myeloid homeostasis. Mice homozygous for a different knock-out allele display altered mobility of hematopoietic stem/progenitor cells.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    8
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
    719
  • Tissues
    8
  • cDNA Data
    15
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000042594 Ensembl Gene Model | MGI Sequence Detail 22159 C57BL/6J ±  kb
    transcript ENSMUST00000122426 Ensembl | MGI Sequence Detail 2777 Not Applicable  
    polypeptide ENSMUSP00000113926 Ensembl | MGI Sequence Detail 548 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      Genomic 6
      cDNA 15
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2140878
    References
    more
    • Summaries
      All 80
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 8
      Phenotypes 46
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:358257 Zhang Y, et al., Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity. J Exp Med. 2024 Apr 1;221(4)
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory