Human Gene SH2B2 (ENST00000444095.3_7) from GENCODE V47lift37
  Description: SH2B adaptor protein 2, transcript variant 9 (from RefSeq NM_001393993.1)
Gencode Transcript: ENST00000444095.3_7
Gencode Gene: ENSG00000160999.11_10
Transcript (Including UTRs)
   Position: hg19 chr7:101,930,159-101,962,178 Size: 32,020 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr7:101,943,835-101,962,097 Size: 18,263 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:101,930,159-101,962,178)mRNA (may differ from genome)Protein (543 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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MGIPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SH2B2_HUMAN
DESCRIPTION: RecName: Full=SH2B adapter protein 2; AltName: Full=Adapter protein with pleckstrin homology and Src homology 2 domains; AltName: Full=SH2 and PH domain-containing adapter protein APS;
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.
SUBUNIT: 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).
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. Note=Cytoplasmic before PDGF stimulation. After PDGF stimulation, localized at the cell membrane and peripheral region.
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.
PTM: 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.
SIMILARITY: Belongs to the SH2B adapter family.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 SH2 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.64 RPKM in Whole Blood
Total median expression: 104.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -144.20255-0.565 Picture PostScript Text
3' UTR -18.7081-0.231 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR015012 - Phe_ZIP
IPR001849 - Pleckstrin_homology
IPR000980 - SH2

Pfam Domains:
PF00169 - PH domain
PF08916 - Phenylalanine zipper

SCOP Domains:
109805 - Phenylalanine zipper
50729 - PH domain-like
55550 - SH2 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1Q2H - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O14492
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005070 SH3/SH2 adaptor activity
GO:0005515 protein binding
GO:0008269 JAK pathway signal transduction adaptor activity
GO:0035591 signaling adaptor activity

Biological Process:
GO:0007165 signal transduction
GO:0007596 blood coagulation
GO:0008286 insulin receptor signaling pathway
GO:0009967 positive regulation of signal transduction
GO:0035556 intracellular signal transduction
GO:0046425 regulation of JAK-STAT cascade

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AB000520 - Homo sapiens mRNA for APS, complete cds.
JD540111 - Sequence 521135 from Patent EP1572962.
JD458373 - Sequence 439397 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O14492 (Reactome details) participates in the following event(s):

R-HSA-205319 Interaction of APS and p-KIT
R-HSA-997237 SH2B proteins bind JAK2
R-HSA-1433506 Phosphorylation of APS
R-HSA-205244 Recruitment of CBL to KIT
R-HSA-1433559 Regulation of KIT signaling
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-1433557 Signaling by SCF-KIT
R-HSA-109582 Hemostasis
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0A0MTI2, A6ND74, APS, ENST00000444095.1, ENST00000444095.2, NM_001393993, O14492, SH2B2_HUMAN, uc320lyu.1, uc320lyu.2
UCSC ID: ENST00000444095.3_7
RefSeq Accession: NM_001359230.2
Protein: O14492 (aka SH2B2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.