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Aliases for SH2B1 Gene

Aliases for SH2B1 Gene

  • SH2B Adaptor Protein 1 2 3 5
  • Pro-Rich, PH And SH2 Domain-Containing Signaling Mediator 3 4
  • SH2 Domain-Containing Protein 1B 3 4
  • SH2B 3 4
  • PSM 3 4
  • SH2 Domain-Containing Putative Adapter SH2-B 3
  • SH2-B Signaling Protein 3
  • SH2B Adapter Protein 1 3
  • SH2-B Homolog 2
  • KIAA1299 4

External Ids for SH2B1 Gene

Previous GeneCards Identifiers for SH2B1 Gene

  • GC16P028766
  • GC16P026742

Summaries for SH2B1 Gene

Entrez Gene Summary for SH2B1 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]

GeneCards Summary for SH2B1 Gene

SH2B1 (SH2B Adaptor Protein 1) is a Protein Coding gene. Diseases associated with SH2B1 include Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2b1 Deficiency and Chromosome 16P11.2 Deletion Syndrome, 220-Kb. Among its related pathways are Development HGF signaling pathway and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and signaling adaptor activity. An important paralog of this gene is SH2B2.

UniProtKB/Swiss-Prot for SH2B1 Gene

  • Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of insulin (INS), insulin-like growth factor I (IGF1), nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), glial cell line-derived neurotrophic factor (GDNF), platelet-derived growth factor (PDGF) and fibroblast growth factors (FGFs). In growth hormone (GH) signaling, autophosphorylated (Tyr-813) JAK2 recruits SH2B1, which in turn is phosphorylated by JAK2 on tyrosine residues. These phosphotyrosines form potential binding sites for other signaling proteins. GH also promotes serine/threonine phosphorylation of SH2B1 and these phosphorylated residues may serve to recruit other proteins to the GHR-JAK2-SH2B1 complexes, such as RAC1. In leptin (LEP) signaling, binds to and potentiates the activation of JAK2 by globally enhancing downstream pathways. In response to leptin, binds simultaneously to both, JAK2 and IRS1 or IRS2, thus mediating formation of a complex of JAK2, SH2B1 and IRS1 or IRS2. Mediates tyrosine phosphorylation of IRS1 and IRS2, resulting in activation of the PI 3-kinase pathway. Acts as positive regulator of NGF-mediated activation of the Akt/Forkhead pathway; prolongs NGF-induced phosphorylation of AKT1 on Ser-473 and AKT1 enzymatic activity. Enhances the kinase activity of the cytokine receptor-associated tyrosine kinase JAK2 and of other receptor tyrosine kinases, such as FGFR3 and NTRK1. For JAK2, the mechanism seems to involve dimerization of both, SH2B1 and JAK2. Enhances RET phosphorylation and kinase activity. Isoforms seem to be differentially involved in IGF-I and PDGF-induced mitogenesis (By similarity).

Gene Wiki entry for SH2B1 Gene

Additional gene information for SH2B1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH2B1 Gene

Genomics for SH2B1 Gene

GeneHancer (GH) Regulatory Elements for SH2B1 Gene

Promoters and enhancers for SH2B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J028861 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 673.7 +18.0 18020 5.6 CLOCK ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC PPARGC1A SH2B1 ENSG00000261766 ATXN2L TUFM NFATC2IP ENSG00000260853 NPIPB12 SPNS1 SMG1P2 NPIPB10P
GH16J028844 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 672.6 -0.4 -397 3 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC TUFM SH2B1 ATXN2L NFATC2IP ENSG00000260853 SPNS1 NPIPB12 SMG1P2 NPIPB10P ENSG00000198106
GH16J029803 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 79.7 +961.8 961843 10.3 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 PRRT2 ENSG00000259952 GC16P029807 GC16P029809 GC16P029961 MAZ PIR38319 PIR43581 PIR52049 PIR52254
GH16J028209 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 45.5 -635.0 -634998 3.5 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF143 ZNF548 SP3 XPO6 SH2B1 ATXN2L ENSG00000261766 NPIPB9 ENSG00000260853 SPNS1 NFATC2IP ENSG00000260367 RPS15AP33
GH16J028821 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 44.8 -22.5 -22468 4.4 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ATXN2L ENSG00000275807 TUFM NPIPB12 SH2B1 ENSG00000198106 ENSG00000260853 SPNS1 ENSG00000261766 SMG1P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SH2B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SH2B1 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • CUTL1
  • GATA-3
  • Pax-2
  • Pax-2a
  • AML1a
  • PPAR-alpha

Genomic Locations for SH2B1 Gene

Genomic Locations for SH2B1 Gene
chr16:28,846,600-28,874,213
(GRCh38/hg38)
Size:
27,614 bases
Orientation:
Plus strand
chr16:28,857,921-28,885,534
(GRCh37/hg19)
Size:
27,614 bases
Orientation:
Plus strand

Genomic View for SH2B1 Gene

Genes around SH2B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH2B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH2B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH2B1 Gene

Proteins for SH2B1 Gene

  • Protein details for SH2B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRF2-SH2B1_HUMAN
    Recommended name:
    SH2B adapter protein 1
    Protein Accession:
    Q9NRF2
    Secondary Accessions:
    • A8K2R7
    • Q96FK3
    • Q96SX3
    • Q9NRF1
    • Q9NRF3
    • Q9P2P7
    • Q9Y3Y3

    Protein attributes for SH2B1 Gene

    Size:
    756 amino acids
    Molecular mass:
    79366 Da
    Quaternary structure:
    • Self-associates. Homopentamer (By similarity). Forms a heteromultimeric complex with SH2B2 (By similarity). Interacts with SH2B2. Isoform 1 interacts via its SH2 domain with JAK2. Isoform 2 interacts via its SH2 domain and its N-terminus with JAK2; the SH2 domain is required for the major interaction with JAK2 phosphorylated on tyrosine residues; the N-terminus provides a low-affinity binding to JAK2 independent of JAK2 phosphorylation. Isoform 3 interacts via its SH2 domain with JAK2. Isoform 1 interacts via its SH2 domain with INSR; the interaction requires receptor activation. Isoform 3 interacts via its SH2 domain with INSR; the interaction requires receptor activation and requires INSR phosphorylation at Tyr-1185. Isoform 1 interacts with IGF1R; the interaction requires receptor activation. Isoform 2 interacts with PRKAR1A/RET (PTC2) fusion protein; the interaction requires RET Tyr-905 and Tyr-981. Isoform 2 interacts via its SH2 domain with FGFR3; the interaction requires FGFR3 Tyr-724 and Tyr-760. Isoform 2 interacts with RET; the interaction requires RET kinase activity and RET Tyr-981. Isoform 2 interacts with RAC1. Isoform 2 interacts with PDGFRA and/or PDGFRB; the interaction requires receptor activation. Interacts with ISR1 and ISR2. Isoform 3 is probably part of a complex consisting of INSR, ISR1 and SH2B1. Probably part of a ternary complex consisting of SH2B1, JAK2 and ISR1 or ISR2. May interact with FCER1G (By similarity). Interacts (via SH2 domain) with NTRK1 (phosphorylated) (By similarity).
    SequenceCaution:
    • Sequence=AAH10704.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA92537.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB55148.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SH2B1 Gene

    Alternative splice isoforms for SH2B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH2B1 Gene

Post-translational modifications for SH2B1 Gene

  • Phosphorylated on tyrosine residues in response to receptor kinase stimulation. Phosphorylated by RET.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for SH2B1
  • Boster Bio Antibodies for SH2B1

No data available for DME Specific Peptides for SH2B1 Gene

Domains & Families for SH2B1 Gene

Gene Families for SH2B1 Gene

Suggested Antigen Peptide Sequences for SH2B1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NRF2

UniProtKB/Swiss-Prot:

SH2B1_HUMAN :
  • Belongs to the SH2B adapter family.
Family:
  • Belongs to the SH2B adapter family.
genes like me logo Genes that share domains with SH2B1: view

Function for SH2B1 Gene

Molecular function for SH2B1 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of insulin (INS), insulin-like growth factor I (IGF1), nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), glial cell line-derived neurotrophic factor (GDNF), platelet-derived growth factor (PDGF) and fibroblast growth factors (FGFs). In growth hormone (GH) signaling, autophosphorylated (Tyr-813) JAK2 recruits SH2B1, which in turn is phosphorylated by JAK2 on tyrosine residues. These phosphotyrosines form potential binding sites for other signaling proteins. GH also promotes serine/threonine phosphorylation of SH2B1 and these phosphorylated residues may serve to recruit other proteins to the GHR-JAK2-SH2B1 complexes, such as RAC1. In leptin (LEP) signaling, binds to and potentiates the activation of JAK2 by globally enhancing downstream pathways. In response to leptin, binds simultaneously to both, JAK2 and IRS1 or IRS2, thus mediating formation of a complex of JAK2, SH2B1 and IRS1 or IRS2. Mediates tyrosine phosphorylation of IRS1 and IRS2, resulting in activation of the PI 3-kinase pathway. Acts as positive regulator of NGF-mediated activation of the Akt/Forkhead pathway; prolongs NGF-induced phosphorylation of AKT1 on Ser-473 and AKT1 enzymatic activity. Enhances the kinase activity of the cytokine receptor-associated tyrosine kinase JAK2 and of other receptor tyrosine kinases, such as FGFR3 and NTRK1. For JAK2, the mechanism seems to involve dimerization of both, SH2B1 and JAK2. Enhances RET phosphorylation and kinase activity. Isoforms seem to be differentially involved in IGF-I and PDGF-induced mitogenesis (By similarity).

Phenotypes From GWAS Catalog for SH2B1 Gene

Gene Ontology (GO) - Molecular Function for SH2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9742218
GO:0035591 signaling adaptor activity IEA --
genes like me logo Genes that share ontologies with SH2B1: view
genes like me logo Genes that share phenotypes with SH2B1: view

Human Phenotype Ontology for SH2B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SH2B1 Gene

MGI Knock Outs for SH2B1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH2B1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SH2B1 Gene

Localization for SH2B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH2B1 Gene

Cytoplasm. Membrane. Nucleus. Note=Shuttles between the nucleus and the cytoplasm. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SH2B1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SH2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SH2B1: view

Pathways & Interactions for SH2B1 Gene

genes like me logo Genes that share pathways with SH2B1: view

SIGNOR curated interactions for SH2B1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SH2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007596 blood coagulation TAS --
GO:0009967 positive regulation of signal transduction IEA --
GO:0030032 lamellipodium assembly IEA --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with SH2B1: view

Drugs & Compounds for SH2B1 Gene

(13) Drugs for SH2B1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amisulpride Approved, Investigational Pharma Antagonist Dopamine D2/D3 receptor antagonist 0
Aripiprazole Approved, Investigational Pharma Antagonist, Full agonist, Agonist Antipsychotic, High affinity D2 and 5-HT1A receptor partial agonist; also 5-HT2A antagonist 373
Clozapine Approved Pharma Antagonist, Positive, Allosteric regulator, Full agonist, Agonist, Inverse agonist Antipsychotic medication 121
Lithium Approved Pharma 0
Mirtazapine Approved Pharma 97
genes like me logo Genes that share compounds with SH2B1: view

Transcripts for SH2B1 Gene

Unigene Clusters for SH2B1 Gene

SH2B adaptor protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH2B1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH2B1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c · 11d ^ 12a · 12b · 12c ^ 13 ^
SP1: -
SP2: -
SP3: -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - - -
SP7: -
SP8: - - - - - - - - - - - - -
SP9: - - - - - - -
SP10: - - -
SP11: -
SP12: - -

ExUns: 14a · 14b ^ 15 ^ 16
SP1: -
SP2:
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for SH2B1 Gene

GeneLoc Exon Structure for
SH2B1
ECgene alternative splicing isoforms for
SH2B1

Expression for SH2B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SH2B1 Gene

Protein differential expression in normal tissues from HIPED for SH2B1 Gene

This gene is overexpressed in Bone (22.8), Testis (13.4), and Retina (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SH2B1 Gene



Protein tissue co-expression partners for SH2B1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SH2B1 Gene:

SH2B1

SOURCE GeneReport for Unigene cluster for SH2B1 Gene:

Hs.15744

mRNA Expression by UniProt/SwissProt for SH2B1 Gene:

Q9NRF2-SH2B1_HUMAN
Tissue specificity: Widely expressed with highest levels in skeletal muscle and ovary.

Evidence on tissue expression from TISSUES for SH2B1 Gene

  • Nervous system(4.9)
  • Eye(4.5)
  • Liver(4.3)
  • Intestine(2.6)
  • Skin(2.5)
  • Adrenal gland(2.3)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SH2B1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • forehead
  • head
  • jaw
  • maxilla
  • mouth
  • skull
genes like me logo Genes that share expression patterns with SH2B1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SH2B1 Gene

Orthologs for SH2B1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SH2B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH2B1 34 33
  • 96.07 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SH2B1 34 33
  • 91.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SH2B1 34 33
  • 90.64 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh2b1 33
  • 86.96 (n)
mouse
(Mus musculus)
Mammalia Sh2b1 16 34 33
  • 86.48 (n)
oppossum
(Monodelphis domestica)
Mammalia SH2B1 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH2B1 34
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH2B1 34
  • 58 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.30673 33
zebrafish
(Danio rerio)
Actinopterygii sh2b1 34
  • 33 (a)
OneToOne
Dr.10574 33
fruit fly
(Drosophila melanogaster)
Insecta Lnk 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToMany
Species where no ortholog for SH2B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SH2B1 Gene

ENSEMBL:
Gene Tree for SH2B1 (if available)
TreeFam:
Gene Tree for SH2B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SH2B1: view image

Paralogs for SH2B1 Gene

Paralogs for SH2B1 Gene

(1) SIMAP similar genes for SH2B1 Gene using alignment to 10 proteins:

  • SH2B1_HUMAN
  • B4DLN5_HUMAN
  • F5GXU7_HUMAN
  • H3BMY3_HUMAN
  • H3BPB4_HUMAN
  • H3BPZ4_HUMAN
  • H3BTK4_HUMAN
  • H3BTT2_HUMAN
  • H3BUN7_HUMAN
  • H3BVF6_HUMAN
genes like me logo Genes that share paralogs with SH2B1: view

Variants for SH2B1 Gene

Sequence variations from dbSNP and Humsavar for SH2B1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1057518742 pathogenic, Combined oxidative phosphorylation deficiency 4 28,845,030(+) A/T upstream_transcript_variant
rs1057518743 pathogenic, Combined oxidative phosphorylation deficiency 4 28,845,997(+) G/ upstream_transcript_variant
rs112029765 likely-benign, Combined oxidative phosphorylation deficiency 28,846,401(+) C/T upstream_transcript_variant
rs11542257 benign, likely-benign, not specified, Combined oxidative phosphorylation deficiency 28,845,961(+) G/A/C upstream_transcript_variant
rs115691896 uncertain-significance, likely-benign, Combined oxidative phosphorylation deficiency, not specified 28,844,875(+) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SH2B1 Gene

Variant ID Type Subtype PubMed ID
dgv2830n100 CNV gain 25217958
dgv2831n100 CNV gain 25217958
dgv4987n54 CNV gain 21841781
esv2758640 CNV gain+loss 17122850
esv3570454 CNV gain 25503493
esv3638349 CNV gain 21293372
esv3892826 CNV gain+loss 25118596
esv989259 CNV gain 20482838
nsv1059555 CNV gain 25217958
nsv518648 CNV loss 19592680
nsv519100 CNV gain 19592680
nsv571805 CNV loss 21841781

Variation tolerance for SH2B1 Gene

Residual Variation Intolerance Score: 10.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.35; 81.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SH2B1 Gene

Human Gene Mutation Database (HGMD)
SH2B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH2B1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH2B1 Gene

Disorders for SH2B1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SH2B1 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SH2B1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SH2B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SH2B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SH2B1 Gene

Publications for SH2B1 Gene

  1. The SH2B gene is associated with serum leptin and body fat in normal female twins. (PMID: 17228025) Jamshidi Y … O'Dell SD (Obesity (Silver Spring, Md.) 2007) 3 22 44 58
  2. Kinase activation through dimerization by human SH2-B. (PMID: 15767667) Nishi M … Shoelson SE (Molecular and cellular biology 2005) 3 4 22 58
  3. Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation. (PMID: 11827956) Kong M … Donoghue DJ (The Journal of biological chemistry 2002) 2 3 4 58
  4. Alternative splicing, gene localization, and binding of SH2-B to the insulin receptor kinase domain. (PMID: 10594240) Nelms K … Paul WE (Mammalian genome : official journal of the International Mammalian Genome Society 1999) 2 3 4 58
  5. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B … Franks PW (Diabetologia 2010) 3 44 58

Products for SH2B1 Gene

Sources for SH2B1 Gene