The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor... See more...

Aliases for SH2B2 Gene

Aliases for SH2B2 Gene

  • SH2B Adaptor Protein 2 2 3 5
  • APS 2 3 4
  • Adapter Protein With Pleckstrin Homology And Src Homology 2 Domains 3 4
  • SH2 And PH Domain-Containing Adapter Protein APS 3 4
  • SH2B Adapter Protein 2 3 4
  • Adaptor Protein With Pleckstrin Homology And Src 2
  • SH2B2 5

External Ids for SH2B2 Gene

Previous GeneCards Identifiers for SH2B2 Gene

  • GC07P101715
  • GC07P101928
  • GC07P096518

Summaries for SH2B2 Gene

Entrez Gene Summary for SH2B2 Gene

  • The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq, Jun 2009]

GeneCards Summary for SH2B2 Gene

SH2B2 (SH2B Adaptor Protein 2) is a Protein Coding gene. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include identical protein binding and SH3/SH2 adaptor activity. An important paralog of this gene is SH2B1.

UniProtKB/Swiss-Prot Summary for SH2B2 Gene

  • Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways. May be involved in coupling from immunoreceptor to Ras signaling. Acts as a negative regulator of cytokine signaling in collaboration with CBL. Binds to EPOR and suppresses EPO-induced STAT5 activation, possibly through a masking effect on STAT5 docking sites in EPOR. Suppresses PDGF-induced mitogenesis. May induce cytoskeletal reorganization via interaction with VAV3.

Gene Wiki entry for SH2B2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SH2B2 Gene

Genomics for SH2B2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SH2B2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SH2B2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SH2B2

Top Transcription factor binding sites by QIAGEN in the SH2B2 gene promoter:
  • AhR
  • GATA-1
  • GATA-3
  • NF-kappaB
  • NF-kappaB1
  • Pax-2
  • Pax-2a
  • Pax-2b
  • RelA

Genomic Locations for SH2B2 Gene

Latest Assembly
chr7:102,284,525-102,321,711
(GRCh38/hg38)
Size:
37,187 bases
Orientation:
Plus strand

Previous Assembly
chr7:101,928,432-101,962,178
(GRCh37/hg19 by Entrez Gene)
Size:
33,747 bases
Orientation:
Plus strand

chr7:101,928,405-101,962,178
(GRCh37/hg19 by Ensembl)
Size:
33,774 bases
Orientation:
Plus strand

Genomic View for SH2B2 Gene

Genes around SH2B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH2B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH2B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH2B2 Gene

Proteins for SH2B2 Gene

  • Protein details for SH2B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14492-SH2B2_HUMAN
    Recommended name:
    SH2B adapter protein 2
    Protein Accession:
    O14492
    Secondary Accessions:
    • A0A0A0MTI2
    • A6ND74

    Protein attributes for SH2B2 Gene

    Size:
    632 amino acids
    Molecular mass:
    67738 Da
    Quaternary structure:
    • Homodimer. Interacts with KIT/c-KIT, SHC1, EPOR, PDGFR, VAV1 and VAV3. Interacts (via N-terminal region) with SHC1. Interacts (via the phosphorylated C-terminus) with GRB2. Interacts (via its SH2 domain) with EPOR, INSR and KIT. Interacts with GRB2 after B-cell antigen receptor stimulation. Interacts (via PH domain) with VAV3. Interacts with NTRK1, NTRK2 and NTRK3 (phosphorylated); after stimulation of the receptor by its extracellular ligand and subsequent autophosphorylation of the receptor. Binds INSR, GRB2, ASB6 and CAP. Insulin stimulation leads to dissociation of CAP. Binds CBS only when SH2B2/APS has become phosphorylated. INSR binding does not depend on the phosphorylation of SH2B2/APS (By similarity).

    Three dimensional structures from OCA and Proteopedia for SH2B2 Gene

    Alternative splice isoforms for SH2B2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH2B2 Gene

Post-translational modifications for SH2B2 Gene

  • Tyrosine phosphorylated by JAK2, KIT and other kinases activated by B-cell receptor in response to stimulation with cytokines, IL3, IL5, PDGF, IGF1, IGF2, CSF2/GM-CSF and cross-linking of the B-cell receptor complex.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SH2B2 Gene

Domains & Families for SH2B2 Gene

Protein Domains for SH2B2 Gene

InterPro:
Blocks:
  • SH2 domain signature
  • Pleckstrin-like

Suggested Antigen Peptide Sequences for SH2B2 Gene

GenScript: Design optimal peptide antigens:
  • SH2 and PH domain-containing adapter protein APS (SH2B2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14492

UniProtKB/Swiss-Prot:

SH2B2_HUMAN :
  • Belongs to the SH2B adapter family.
Family:
  • Belongs to the SH2B adapter family.
genes like me logo Genes that share domains with SH2B2: view

Function for SH2B2 Gene

Molecular function for SH2B2 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways. May be involved in coupling from immunoreceptor to Ras signaling. Acts as a negative regulator of cytokine signaling in collaboration with CBL. Binds to EPOR and suppresses EPO-induced STAT5 activation, possibly through a masking effect on STAT5 docking sites in EPOR. Suppresses PDGF-induced mitogenesis. May induce cytoskeletal reorganization via interaction with VAV3.

Phenotypes From GWAS Catalog for SH2B2 Gene

Gene Ontology (GO) - Molecular Function for SH2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity IDA,IBA 21873635
GO:0005515 protein binding IPI 15737992
GO:0035591 signaling adaptor activity IEA,IDA 9233773
GO:0042169 SH2 domain binding IDA 9233773
GO:0042802 identical protein binding IPI --
genes like me logo Genes that share ontologies with SH2B2: view
genes like me logo Genes that share phenotypes with SH2B2: view

Animal Models for SH2B2 Gene

MGI Knock Outs for SH2B2:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH2B2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SH2B2 Gene

Localization for SH2B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH2B2 Gene

Cytoplasm. Cell membrane. Note=Cytoplasmic before PDGF stimulation. After PDGF stimulation, localized at the cell membrane and peripheral region.

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 SH2B2 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SH2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA --
GO:0001726 ruffle IDA --
GO:0005737 cytoplasm IDA 9989826
GO:0005829 cytosol IDA,TAS --
GO:0005884 actin filament IDA --
genes like me logo Genes that share ontologies with SH2B2: view

Pathways & Interactions for SH2B2 Gene

genes like me logo Genes that share pathways with SH2B2: view

Pathways by source for SH2B2 Gene

1 GeneGo (Thomson Reuters) pathway for SH2B2 Gene
  • Development EPO-induced Jak-STAT pathway
1 Cell Signaling Technology pathway for SH2B2 Gene

SIGNOR curated interactions for SH2B2 Gene

Activates:
Inactivates:
Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for SH2B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001922 B-1 B cell homeostasis IMP --
GO:0007165 signal transduction IEA --
GO:0007399 nervous system development IMP --
GO:0007596 blood coagulation TAS --
GO:0008286 insulin receptor signaling pathway IDA,ISS --
genes like me logo Genes that share ontologies with SH2B2: view

Drugs & Compounds for SH2B2 Gene

(1) Drugs for SH2B2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SH2B2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SH2B2: view

Transcripts for SH2B2 Gene

mRNA/cDNA for SH2B2 Gene

11 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH2B2

Alternative Splicing Database (ASD) splice patterns (SP) for SH2B2 Gene

No ASD Table

Relevant External Links for SH2B2 Gene

GeneLoc Exon Structure for
SH2B2

Expression for SH2B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SH2B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH2B2 Gene

This gene is overexpressed in Whole Blood (x11.3) and Muscle - Skeletal (x5.1).

Protein differential expression in normal tissues from HIPED for SH2B2 Gene

This gene is overexpressed in Heart (37.1), Adipocyte (18.3), and Blymphocyte (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SH2B2 Gene



Protein tissue co-expression partners for SH2B2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SH2B2

SOURCE GeneReport for Unigene cluster for SH2B2 Gene:

Hs.489448

mRNA Expression by UniProt/SwissProt for SH2B2 Gene:

O14492-SH2B2_HUMAN
Tissue specificity: Expressed in spleen, prostate, testis, uterus, small intestine and skeletal muscle. Among hematopoietic cell lines, expressed exclusively in B-cells. Not expressed in most tumor cell lines.
genes like me logo Genes that share expression patterns with SH2B2: view

Primer products for research

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SH2B2 Gene

Orthologs for SH2B2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SH2B2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SH2B2 29 30
  • 99.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SH2B2 29 30
  • 88.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SH2B2 29 30
  • 87.58 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sh2b2 29 16 30
  • 80.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sh2b2 29
  • 80.01 (n)
Oppossum
(Monodelphis domestica)
Mammalia SH2B2 30
  • 56 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SH2B2 30
  • 43 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SH2B2 29 30
  • 70.77 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SH2B2 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488327 29
  • 61.46 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100535524 29
  • 64.25 (n)
SH2B2 30
  • 46 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Lnk 30
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 40 (a)
OneToMany
Species where no ortholog for SH2B2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 SH2B2 Gene

ENSEMBL:
Gene Tree for SH2B2 (if available)
TreeFam:
Gene Tree for SH2B2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SH2B2: view image
Alliance of Genome Resources:
Additional Orthologs for SH2B2

Paralogs for SH2B2 Gene

Paralogs for SH2B2 Gene

(3) SIMAP similar genes for SH2B2 Gene using alignment to 4 proteins:

  • SH2B2_HUMAN
  • C9JK89_HUMAN
  • F5GY53_HUMAN
  • H7C431_HUMAN
genes like me logo Genes that share paralogs with SH2B2: view

Variants for SH2B2 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SH2B2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SH2B2 Gene

Variant ID Type Subtype PubMed ID
dgv11539n54 CNV loss 21841781
dgv6538n100 CNV gain 25217958
esv1453362 CNV insertion 17803354
esv2759548 CNV gain 17122850
esv3614347 CNV loss 21293372
esv998770 CNV insertion 20482838
nsv1076938 CNV deletion 25765185
nsv428182 CNV gain 18775914
nsv509218 CNV insertion 20534489
nsv831082 CNV gain 17160897
nsv949918 CNV deletion 24416366

Variation tolerance for SH2B2 Gene

Gene Damage Index Score: 5.22; 69.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SH2B2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH2B2
Leiden Open Variation Database (LOVD)
SH2B2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SH2B2 Gene

Disorders for SH2B2 Gene

Additional Disease Information for SH2B2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for SH2B2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SH2B2 Gene

Publications for SH2B2 Gene

  1. Cloning and characterization of APS, an adaptor molecule containing PH and SH2 domains that is tyrosine phosphorylated upon B-cell receptor stimulation. (PMID: 9233773) Yokouchi M … Yoshimura A (Oncogene 1997) 2 3 4 22
  2. APS, an adaptor protein containing Pleckstrin homology (PH) and Src homology-2 (SH2) domains inhibits the JAK-STAT pathway in collaboration with c-Cbl. (PMID: 10374881) Wakioka T … Yoshimura A (Leukemia 1999) 3 4 22
  3. APS, an adaptor protein containing PH and SH2 domains, is associated with the PDGF receptor and c-Cbl and inhibits PDGF-induced mitogenesis. (PMID: 9989826) Yokouchi M … Yoshimura A (Oncogene 1999) 3 4 22
  4. Adaptor protein APS binds the NH2-terminal autoinhibitory domain of guanine nucleotide exchange factor Vav3 and augments its activity. (PMID: 12400014) Yabana N … Shibuya M (Oncogene 2002) 3 4
  5. SH2-B family members differentially regulate JAK family tyrosine kinases. (PMID: 11751854) O'Brien KB … Carter-Su C (The Journal of biological chemistry 2002) 3 22

Products for SH2B2 Gene

Sources for SH2B2 Gene