SH2B2 (SH2B adaptor protein 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 10603
Gene name SH2B adaptor protein 2
Gene symbol SH2B2
Synonyms (NCBI Gene)
APS
Chromosome 7
Chromosome location 7q22.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
10
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
miRTarBase ID miRNA Experiments Reference
MIRT1344133 hsa-miR-187 CLIP-seq
MIRT1344134 hsa-miR-3119 CLIP-seq
MIRT1344135 hsa-miR-4438 CLIP-seq
MIRT1344136 hsa-miR-4711-3p CLIP-seq
MIRT2101753 hsa-miR-412 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (31)
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IEA
GO:0001726 Component Ruffle IEA
GO:0001922 Process B-1 B cell homeostasis IEA
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity IBA
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605300 17381 ENSG00000160999
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14492
Protein name SH2B adapter protein 2 (Adapter protein with pleckstrin homology and Src homology 2 domains) (SH2 and PH domain-containing adapter protein APS)
Protein 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 collabor
PDB 1Q2H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08916 Phe_ZIP 22 → 78 Phenylalanine zipper Domain
PF00169 PH 194 → 306 PH domain Domain
PF00017 SH2 417 → 494 SH2 domain Domain
Tissue specificity 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. {ECO:0000269|PubMed:9233773, ECO:0000269|PubM
Sequence 
MNGAGPGPAAAAPVPVPVPVPDWRQFCELHAQAAAVDFAHKFCRFLRDNPAYDTPDAGAS
FSRHFAANFLDVFGEEVRRVLVAGPTTRGAAVSAEAMEPELADTSALKAAPYGHSRSSED
VSTHAATKARVRKGFSLRNMSLCVVDGVRDMWHRRASPEPDAAAAPRTAEPRDKWTRRLR
LSRTLAAKVELVDIQREGALRFMVADDAAAGSGGSAQWQKCRLLLRRAVAEERFRLEFFV
PPKASRPKVSIPLSAIIEVRTTMPLEMPEKDNTFVLKVENGAEYILETIDSLQKHSWVAD
IQGCVDPGDSEEDTELSCTRGGCLASRVASCSCELLTDAVDLPRPPETTAVGAVVTAPHS
RGRDAVRESLIHVPLETFLQTLESPGGSGSDSNNTGEQGAETDPEAEPELELSDYPWFHG
TLSRVKAAQLVLAGGPRNHGLFVIRQSETRPGEYVLTFNFQGKAKHLRLSLNGHGQCHVQ
HLWFQSVLDMLRHFHTHPIPLESGGSADITLRSYVRAQDPPPEPGPTPPAAPASPACWSD
SPGQHYFSSLAAAACPPASPSDAAGASSSSASSSSAASGPAPPRPVEGQLSARSRSNSAE
RLLEAVAATAAEEPPEAAPGRARAVENQYSFY
Sequence length 632
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neurotrophin signaling pathway
Insulin signaling pathway 		  Regulation of KIT signaling
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
TYPE 2 DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (45)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Addison Disease Addison`s Disease BEFREE 24014553
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 25773797
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 12734793
★★★★★
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid Syndrome BEFREE 20516018, 22147897, 23154322, 29402471, 30685523
★★★★★
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid syndrome Pubtator 32780559 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 30003797
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 12734793, 25402387, 27550302, 28387637, 28941288, 29608758, 30405613, 31808534
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Syndrome Type II, Polyglandular Polyglandular autoimmune syndrome BEFREE 16254435, 21677034
★★★★★
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 23566870
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Intraductal Noninfiltrating Intraductal noninfiltrating carcinoma Pubtator 40629431 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only