Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SH2B3 Gene

Aliases for SH2B3 Gene

  • SH2B Adaptor Protein 3 2 3
  • LNK 3 4 6
  • Lymphocyte-Specific Adapter Protein Lnk 3 4
  • Signal Transduction Protein Lnk 3 4
  • Lymphocyte Adaptor Protein 2
  • Lymphocyte Adapter Protein 4
  • SH2B Adapter Protein 3 3
  • IDDM20 3

External Ids for SH2B3 Gene

Previous GeneCards Identifiers for SH2B3 Gene

  • GC12P110328
  • GC12P111843
  • GC12P108858

Summaries for SH2B3 Gene

Entrez Gene Summary for SH2B3 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]

GeneCards Summary for SH2B3 Gene

SH2B3 (SH2B Adaptor Protein 3) is a Protein Coding gene. Diseases associated with SH2B3 include myelofibrosis and growth retardation-mild developmental delay-chronic hepatitis syndrome. Among its related pathways are PI-3K cascade and Signaling by GPCR. GO annotations related to this gene include phospholipid binding and protein complex binding. An important paralog of this gene is SH2B2.

UniProtKB/Swiss-Prot for SH2B3 Gene

  • Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.

Gene Wiki entry for SH2B3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH2B3 Gene

Genomics for SH2B3 Gene

Regulatory Elements for SH2B3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SH2B3 Gene

Start:
111,405,917 bp from pter
End:
111,451,623 bp from pter
Size:
45,707 bases
Orientation:
Plus strand

Genomic View for SH2B3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SH2B3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH2B3 Gene

Proteins for SH2B3 Gene

  • Protein details for SH2B3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQQ2-SH2B3_HUMAN
    Recommended name:
    SH2B adapter protein 3
    Protein Accession:
    Q9UQQ2
    Secondary Accessions:
    • B9EGG5
    • O95184

    Protein attributes for SH2B3 Gene

    Size:
    575 amino acids
    Molecular mass:
    63225 Da
    Quaternary structure:
    • Binds to the tyrosine-phosphorylated TCR zeta chain via its SH2 domain

neXtProt entry for SH2B3 Gene

Proteomics data for SH2B3 Gene at MOPED

Post-translational modifications for SH2B3 Gene

Other Protein References for SH2B3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SH2B3 Gene

Domains for SH2B3 Gene

Gene Families for SH2B3 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing
  • SH2D :SH2 domain containing

Protein Domains for SH2B3 Gene

Suggested Antigen Peptide Sequences for SH2B3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UQQ2

UniProtKB/Swiss-Prot:

SH2B3_HUMAN :
  • Q9UQQ2
Domain:
  • Contains 1 PH domain.
  • Contains 1 SH2 domain.
Family:
  • Belongs to the SH2B adapter family.
genes like me logo Genes that share domains with SH2B3: view

Function for SH2B3 Gene

Molecular function for SH2B3 Gene

UniProtKB/Swiss-Prot Function: Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.

Gene Ontology (GO) - Molecular Function for SH2B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0005515 protein binding IPI 16273093
GO:0032403 protein complex binding IEA --
GO:0035591 signaling adaptor activity IEA --
GO:0042301 phosphate ion binding IEA --
genes like me logo Genes that share ontologies with SH2B3: view

Phenotypes for SH2B3 Gene

genes like me logo Genes that share phenotypes with SH2B3: view

Animal Models for SH2B3 Gene

MGI Knock Outs for SH2B3:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SH2B3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SH2B3 Gene

Localization for SH2B3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SH2B3 Gene COMPARTMENTS Subcellular localization image for SH2B3 gene
Compartment Confidence
cytosol 4
nucleus 2
cytoskeleton 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SH2B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SH2B3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SH2B3 Gene

Pathways for SH2B3 Gene

genes like me logo Genes that share pathways with SH2B3: view

Gene Ontology (GO) - Biological Process for SH2B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007596 blood coagulation TAS --
GO:0009967 positive regulation of signal transduction IEA --
GO:0030097 hemopoiesis --
GO:0030154 cell differentiation IEA --
GO:0035162 embryonic hemopoiesis IEA --
genes like me logo Genes that share ontologies with SH2B3: view

Compounds for SH2B3 Gene

(3) Novoseek inferred chemical compound relationships for SH2B3 Gene

Compound -log(P) Hits PubMed IDs
phosphotyrosine 57.5 2
tyrosine 47.1 8
phosphatidylinositol 27.5 2
genes like me logo Genes that share compounds with SH2B3: view

Transcripts for SH2B3 Gene

Unigene Clusters for SH2B3 Gene

SH2B adaptor protein 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SH2B3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SH2B3
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH2B3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11
SP1:
SP2:
SP3:
SP4:

Relevant External Links for SH2B3 Gene

GeneLoc Exon Structure for
SH2B3
ECgene alternative splicing isoforms for
SH2B3

Expression for SH2B3 Gene

mRNA expression in normal human tissues for SH2B3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SH2B3 Gene

SOURCE GeneReport for Unigene cluster for SH2B3 Gene Hs.506784

mRNA Expression by UniProt/SwissProt for SH2B3 Gene

Q9UQQ2-SH2B3_HUMAN
Tissue specificity: Preferentially expressed by lymphoid cell lines
genes like me logo Genes that share expressions with SH2B3: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SH2B3 Gene

Orthologs for SH2B3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SH2B3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH2B3 35
  • 99.42 (n)
  • 98.96 (a)
SH2B3 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SH2B3 35
  • 87.31 (n)
  • 87.9 (a)
SH2B3 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SH2B3 35
  • 88.12 (n)
  • 90.67 (a)
SH2B3 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh2b3 35
  • 79.97 (n)
  • 78.88 (a)
Sh2b3 16
Sh2b3 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SH2B3 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH2B3 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH2B3 35
  • 68.23 (n)
  • 62.11 (a)
SH2B3 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH2B3 36
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh2b3 35
  • 58.85 (n)
  • 55.12 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4732 35
zebrafish
(Danio rerio)
Actinopterygii LOC101884640 35
  • 59.14 (n)
  • 55.81 (a)
sh2b3 36
  • 36 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Lnk 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for SH2B3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SH2B3 Gene

ENSEMBL:
Gene Tree for SH2B3 (if available)
TreeFam:
Gene Tree for SH2B3 (if available)

Paralogs for SH2B3 Gene

Paralogs for SH2B3 Gene

genes like me logo Genes that share paralogs with SH2B3: view

Variants for SH2B3 Gene

Sequence variations from dbSNP and Humsavar for SH2B3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs14555 -- 111,451,512(+) GGCAA(A/T)TTTTT utr-variant-3-prime
rs723984 -- 111,425,880(-) tgatg(A/G)aaggc intron-variant
rs734285 -- 111,445,770(-) GCCTG(G/T)CCACC intron-variant, utr-variant-5-prime
rs734286 -- 111,445,686(-) GATGG(C/T)CACCT intron-variant, utr-variant-5-prime
rs739496 -- 111,449,855(+) GCTCC(A/G)AGAGG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SH2B3 Gene

Variant ID Type Subtype PubMed ID
nsv832513 CNV Gain 17160897
nsv899519 CNV Gain 21882294
nsv899520 CNV Loss 21882294
nsv886 CNV Loss 18451855
esv28093 CNV Loss 19812545

Relevant External Links for SH2B3 Gene

HapMap Linkage Disequilibrium report
SH2B3
Human Gene Mutation Database (HGMD)
SH2B3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH2B3 Gene

Disorders for SH2B3 Gene

(3) OMIM Diseases for SH2B3 Gene (605093)

UniProtKB/Swiss-Prot

SH2B3_HUMAN
  • Celiac disease 13 (CELIAC13) [MIM:612011]: A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. {ECO:0000269 PubMed:18311140}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:17554260}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for SH2B3 Gene

Relevant External Links for SH2B3

Genetic Association Database (GAD)
SH2B3
Human Genome Epidemiology (HuGE) Navigator
SH2B3
genes like me logo Genes that share disorders with SH2B3: view

Publications for SH2B3 Gene

  1. Cloning and characterization of human Lnk, an adaptor protein with pleckstrin homology and Src homology 2 domains that can inhibit T cell activation. (PMID: 10799879) Li Y. … Hayashi J. (J. Immunol. 2000) 2 3 4 23
  2. Newly identified genetic risk variants for celiac disease related to the immune response. (PMID: 18311140) Hunt K.A. … van Heel D.A. (Nat. Genet. 2008) 3 4 48
  3. Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency. (PMID: 18593762) Skinningsrud B. … Undlien D.E. (J. Clin. Endocrinol. Metab. 2008) 3 48
  4. Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease. (PMID: 18805825) Romanos J. … Wijmenga C. (J. Med. Genet. 2009) 3 48
  5. Shared and distinct genetic variants in type 1 diabetes and celiac disease. (PMID: 19073967) Smyth D.J. … Todd J.A. (N. Engl. J. Med. 2008) 3 48

Products for SH2B3 Gene

Sources for SH2B3 Gene

Back to Top

Content