Seroatlas · Human Serome Atlas

SH2B3

SH2B adapter protein 3

Also known as: IDDM20, LNK, SH2B3_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UQQ2
Gene
SH2B3
Ensembl
ENSG00000111252
Chromosome
12
Canonical length
575 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

Canonical amino-acid sequenceUniProt

575 residues, UniProt reviewed canonical sequence.

>Q9UQQ2|SH2B3
     1  MNGPALQPSS PSSAPSASPA AAPRGWSEFC ELHAVAAARE LARQYWLFAR EHPQHAPLRA
    61  ELVSLQFTDL FQRYFCREVR DGRAPGRDYR DTGRGPPAKA EASPEPGPGP AAPGLPKARS
   121  SEELAPPRPP GPCSFQHFRR SLRHIFRRRS AGELPAAHTA AAPGTPGEAA ETPARPGLAK
   181  KFLPWSLARE PPPEALKEAV LRYSLADEAS MDSGARWQRG RLALRRAPGP DGPDRVLELF
   241  DPPKSSRPKL QAACSSIQEV RWCTRLEMPD NLYTFVLKVK DRTDIIFEVG DEQQLNSWMA
   301  ELSECTGRGL ESTEAEMHIP SALEPSTSSS PRGSTDSLNQ GASPGGLLDP ACQKTDHFLS
   361  CYPWFHGPIS RVKAAQLVQL QGPDAHGVFL VRQSETRRGE YVLTFNFQGI AKHLRLSLTE
   421  RGQCRVQHLH FPSVVDMLHH FQRSPIPLEC GAACDVRLSS YVVVVSQPPG SCNTVLFPFS
   481  LPHWDSESLP HWGSELGLPH LSSSGCPRGL SPEGLPGRSS PPEQIFHLVP SPEELANSLQ
   541  HLEHEPVNRA RDSDYEMDSS SRSHLRAIDN QYTPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SH2B3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.51
Highest tissue expression
57 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 57 nTPM
  • spleen: 35 nTPM
  • placenta: 23 nTPM
  • heart muscle: 22 nTPM
  • adipose tissue: 21 nTPM
  • appendix: 21 nTPM

Single-cell type

  • pdcs: 364 nCPM
  • cdc: 298 nCPM
  • monocytes: 275 nCPM
  • macrophages: 273 nCPM
  • kupffer cells: 256 nCPM
  • microglia: 154 nCPM

Immune cell

  • intermediate monocyte: 8.4 nTPM
  • non-classical monocyte: 6.6 nTPM
  • plasmacytoid DC: 4.9 nTPM
  • myeloid DC: 4.8 nTPM
  • classical monocyte: 3.5 nTPM
  • neutrophil: 3 nTPM

Brain region

  • white matter: 51 nTPM
  • thalamus: 46 nTPM
  • medulla oblongata: 45 nTPM
  • cerebral cortex: 44 nTPM
  • spinal cord: 42 nTPM
  • pons: 42 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SH2B3.

Disease | AllUniProt

Conditions SH2B3 is implicated in, by any mechanism.

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 1,035 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.8
gnomAD pLI
0
gnomAD missense Z
0.41
DepMap mean gene effect
-0.04
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SH2B3 as an antibody target. Whether an autoantibody or antibody against SH2B3 could matter depends on whether native SH2B3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SH2B3 is annotated at the cell surface, where native SH2B3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SH2B3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SH2B3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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