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Aliases for SH2B3 Gene

Aliases for SH2B3 Gene

  • SH2B Adaptor Protein 3 2 3 5
  • Lymphocyte-Specific Adapter Protein Lnk 3 4
  • Signal Transduction Protein Lnk 3 4
  • LNK 3 4
  • Lymphocyte Adaptor Protein 2
  • Lymphocyte Adapter Protein 4
  • 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 with myeloid metaplasia, somatic and thrombocythemia 1. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include signal transducer activity and phosphate ion 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

Promoters for SH2B3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SH2B3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SH2B3 Gene

Chromosome:
12
Start:
111,405,108 bp from pter
End:
111,451,624 bp from pter
Size:
46,517 bases
Orientation:
Plus strand

Genomic View for SH2B3 Gene

Genes around SH2B3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH2B3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Antibody Products

  • Cloud-Clone Corp. Antibodies for SH2B3

No data available for DME Specific Peptides for SH2B3 Gene

Domains & Families for SH2B3 Gene

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 :
  • Contains 1 PH domain.
  • Belongs to the SH2B adapter family.
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.
genes like me logo Genes that share phenotypes with SH2B3: view

Human Phenotype Ontology for SH2B3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SH2B3 Gene

MGI Knock Outs for SH2B3:

Animal Model Products

CRISPR Products

miRNA for SH2B3 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 5
nucleus 3
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SH2B3 Gene

Pathways & Interactions for SH2B3 Gene

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

SIGNOR curated interactions for SH2B3 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for SH2B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with SH2B3: view

Drugs & Compounds for SH2B3 Gene

(3) Drugs for SH2B3 Gene - From: DrugBank, Novoseek, and FDA Approved Drugs

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pazopanib Approved Pharma Target, inhibitor VEFGR, c-Kit, and PDGFR inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0
Votrient Approved April 2012/ Approved October of 2009 Pharma 0

(2) Additional Compounds for SH2B3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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

Protein differential expression in normal tissues from HIPED for SH2B3 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SH2B3: view

Protein tissue co-expression partners for SH2B3 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia SH2B3 35
  • 99.42 (n)
  • 98.96 (a)
SH2B3 36
  • 97 (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)
zebrafish
(Danio rerio)
Actinopterygii LOC101884640 35
  • 59.14 (n)
  • 55.81 (a)
sh2b3 36
  • 36 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4732 35
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
rs3184504 - 111,446,804(+) TCCGG(C/T)GGTGC reference, synonymous-codon, missense, utr-variant-5-prime
rs7972796 - 111,418,689(+) AGAAG(C/T)TCCTG reference, missense
rs14555 -- 111,451,512(+) GGCAA(A/T)TTTTT utr-variant-3-prime
rs739496 -- 111,449,855(+) GCTCC(A/G)AGAGG utr-variant-3-prime
rs739497 -- 111,420,282(-) CAAGC(A/G)ATCTT intron-variant

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

Variation tolerance for SH2B3 Gene

Residual Variation Intolerance Score: 49.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.33; 76.73% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(9) MalaCards diseases for SH2B3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myelofibrosis with myeloid metaplasia, somatic
  • myelofibrosis, somatic
thrombocythemia 1
  • thrombocythemia, somatic
erythrocytosis, somatic
  • familial erythrocytosis
growth retardation-mild developmental delay-chronic hepatitis syndrome
essential thrombocythemia
  • hemorrhagic thrombocythemia
- elite association - COSMIC cancer census association via MalaCards
Search SH2B3 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for SH2B3

Genetic Association Database (GAD)
SH2B3
Human Genome Epidemiology (HuGE) Navigator
SH2B3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SH2B3
genes like me logo Genes that share disorders with SH2B3: view

No data available for Genatlas for SH2B3 Gene

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 67
  2. Lnk inhibits myeloproliferative disorder-associated JAK2 mutant, JAK2V617F. (PMID: 19293402) Gery S. … Koeffler H.P. (J. Leukoc. Biol. 2009) 3 23
  3. Expression of the adaptor protein Lnk in leukemia cells. (PMID: 19375649) Gery S. … Koeffler H.P. (Exp. Hematol. 2009) 3 23
  4. Adaptor protein Lnk associates with Tyr(568) in c-Kit. (PMID: 18588518) Gueller S. … Koeffler H.P. (Biochem. J. 2008) 3 23
  5. Enhanced hematopoiesis by hematopoietic progenitor cells lacking intracellular adaptor protein, Lnk. (PMID: 11805142) Takaki S. … Takatsu K. (J. Exp. Med. 2002) 3 23

Products for SH2B3 Gene

Sources for SH2B3 Gene

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