Gene Gene information from NCBI Gene database.
Entrez ID 30011
Gene name SH3 domain containing kinase binding protein 1
Gene symbol SH3KBP1
Synonyms (NCBI Gene)
AGMX2CD2BP3CIN85GIG10HSB-1HSB1IMD61MIG18
Chromosome X
Chromosome location Xp22.12
Summary This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cel
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1602794694 C>G Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
198
miRTarBase ID miRNA Experiments Reference
MIRT035790 hsa-miR-1914-5p CLASH 23622248
MIRT613683 hsa-miR-548az-5p HITS-CLIP 23824327
MIRT613682 hsa-miR-548t-5p HITS-CLIP 23824327
MIRT613681 hsa-miR-3609 HITS-CLIP 23824327
MIRT613680 hsa-miR-548ah-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10679202, 12177062, 14596919, 15090612, 15962011, 16164598, 16228008, 16256071, 16751601, 17255943, 17306257, 18641129, 18680311, 19111555, 19268472, 20221403, 20551902, 20711168, 21516116, 21900206, 23178720, 23663663, 25036637, 28514442, 31413325, 31980649, 32296183, 32814053, 339
GO:0005737 Component Cytoplasm IDA 20221403, 25468996
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300374 13867 ENSG00000147010
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96B97
Protein name SH3 domain-containing kinase-binding protein 1 (CD2-binding protein 3) (CD2BP3) (Cbl-interacting protein of 85 kDa) (Human Src family kinase-binding protein 1) (HSB-1)
Protein function Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor recepto
PDB 2BZ8 , 2K6D , 2K9G , 2N64 , 2O2O , 2YDL , 5ABS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14604 SH3_9 6 54 Variant SH3 domain Domain
PF14604 SH3_9 105 153 Variant SH3 domain Domain
PF14604 SH3_9 274 324 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Also expressed in some cancer cell lines.
Sequence
MVEAIVEFDYQAQHDDELTISVGEIITNIRKEDGGWWEGQINGRRGLFPDNFVREIKKEM
KKDPLTNKAPEKPLHEVPSGNSLLSSETILRTNKRGERRRRRCQVAFSYLPQNDDELELK
VGDIIEVVGEVEEGWWEGVLNGKTGMFPSNFIK
ELSGESDELGISQDEQLSKSSLRETTG
SESDGGDSSSTKSEGANGTVATAAIQPKKVKGVGFGDIFKDKPIKLRPRSIEVENDFLPV
EKTIGKKLPATTATPDSSKTEMDSRTKSKDYCKVIFPYEAQNDDELTIKEGDIVTLINKD
CIDVGWWEGELNGRRGVFPDNFVK
LLPPDFEKEGNRPKKPPPPSAPVIKQGAGTTERKHE
IKKIPPERPEMLPNRTEEKERPEREPKLDLQKPSVPAIPPKKPRPPKTNSLSRPGALPPR
RPERPVGPLTHTRGDSPKIDLAGSSLSGILDKDLSDRSNDIDLEGFDSVVSSTEKLSHPT
TSRPKATGRRPPSQSLTSSSLSSPDIFDSPSPEEDKEEHISLAHRGVDASKKTSKTVTIS
QVSDNKASLPPKPGTMAAGGGGPAPLSSAAPSPLSSSLGTAGHRANSPSLFGTEGKPKME
PAASSQAAVEELRTQVRELRSIIETMKDQQKREIKQLLSELDEEKKIRLRLQMEVNDIKK
ALQSK
Sequence length 665
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   EGFR downregulation
Negative regulation of MET activity
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Reelin signalling pathway
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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)
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
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 18070883
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia HPO_DG
★☆☆☆☆
Found in Text Mining only
AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2 (disorder) AGAMMAGLOBULINEMIA, X-LINKED CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis HPO_DG
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 34344401 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24072600, 31142511
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17255943, 33627783 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 33627783 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 30181811
★☆☆☆☆
Found in Text Mining only