Seroatlas · Human Serome Atlas

SH2B1

SH2B adapter protein 1

Also known as: FLJ30542, SH2B, SH2B1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9NRF2
Gene: SH2B1
Ensembl: ENSG00000178188
Chromosome: 16
Canonical length: 756 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Centriolar satellite,Cytosol
Quaternary structure: Homopentamer

OverviewNCBI Gene

This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

756 residues, UniProt reviewed canonical sequence.

>Q9NRF2|SH2B1
     1  MNGAPSPEDG ASPSSPPLPP PPPPSWREFC ESHARAAALD FARRFRLYLA SHPQYAGPGA
    61  EAAFSRRFAE LFLQHFEAEV ARASGSLSPP ILAPLSPGAE ISPHDLSLES CRVGGPLAVL
   121  GPSRSSEDLA GPLPSSVSSS STTSSKPKLK KRFSLRSVGR SVRGSVRGIL QWRGTVDPPS
   181  SAGPLETSSG PPVLGGNSNS NSSGGAGTVG RGLVSDGTSP GERWTHRFER LRLSRGGGAL
   241  KDGAGMVQRE ELLSFMGAEE AAPDPAGVGR GGGVAGPPSG GGGQPQWQKC RLLLRSEGEG
   301  GGGSRLEFFV PPKASRPRLS IPCSSITDVR TTTALEMPDR ENTFVVKVEG PSEYIMETVD
   361  AQHVKAWVSD IQECLSPGPC PATSPRPMTL PLAPGTSFLT RENTDSLELS CLNHSESLPS
   421  QDLLLGPSES NDRLSQGAYG GLSDRPSASI SPSSASIAAS HFDSMELLPP ELPPRIPIEE
   481  GPPTGTVHPL SAPYPPLDTP ETATGSFLFQ GEPEGGEGDQ PLSGYPWFHG MLSRLKAAQL
   541  VLTGGTGSHG VFLVRQSETR RGEYVLTFNF QGKAKHLRLS LNEEGQCRVQ HLWFQSIFDM
   601  LEHFRVHPIP LESGGSSDVV LVSYVPSSQR QQEPTTSHDP PQPPEPPSWT DPPQPGAEEA
   661  SRAPEVAAAA AAAAKERQEK EKAGGGGVPE ELVPVVELVP VVELEEAIAP GSEAQGAGSG
   721  GDAGVPPMVQ LQQSPLGGDG EEGGHPRAIN NQYSFV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SH2B1 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.59
Highest tissue expression: 83 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 83 nTPM
pituitary gland: 62 nTPM
cerebral cortex: 60 nTPM
ovary: 60 nTPM
thyroid gland: 60 nTPM
kidney: 56 nTPM

Single-cell type

cardiomyocytes: 118 nCPM
choroid plexus epithelial cells: 91 nCPM
myonuclei: 87 nCPM
distal convoluted tubule cells: 75 nCPM
adipocytes: 71 nCPM
retinal ganglion cells: 66 nCPM

Immune cell

basophil: 3.3 nTPM
neutrophil: 2.1 nTPM
gdT-cell: 2 nTPM
MAIT T-cell: 1.9 nTPM
T-reg: 1.8 nTPM
naive B-cell: 1.7 nTPM

Brain region

cerebral cortex: 121 nTPM
cerebellum: 107 nTPM
white matter: 106 nTPM
amygdala: 98 nTPM
hippocampal formation: 98 nTPM
thalamus: 94 nTPM

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): 0.32
gnomAD pLI: 0.97
gnomAD missense Z: 0.69
DepMap mean gene effect: -0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

transmembrane receptor protein tyrosine kinase adaptor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SH2B1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SH2B1 as an antibody target. Whether an autoantibody or antibody against SH2B1 could matter depends on whether native SH2B1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SH2B1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SH2B1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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