Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1602794694	C>G	Likely-pathogenic	Coding sequence variant, missense variant

198

Show/Hide all (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
MIRT326934	hsa-miR-5692a	HITS-CLIP	23824327
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
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
MIRT326934	hsa-miR-5692a	HITS-CLIP	23824327
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613678	hsa-miR-4775	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
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
MIRT326934	hsa-miR-5692a	HITS-CLIP	23824327
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
MIRT616483	hsa-miR-335-3p	HITS-CLIP	23824327
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
MIRT326934	hsa-miR-5692a	HITS-CLIP	23824327
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613678	hsa-miR-4775	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
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
MIRT326934	hsa-miR-5692a	HITS-CLIP	23824327
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
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
MIRT326934	hsa-miR-5692a	HITS-CLIP	23824327
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613678	hsa-miR-4775	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
MIRT616483	hsa-miR-335-3p	HITS-CLIP	23824327
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
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613678	hsa-miR-4775	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
MIRT439641	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT726592	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT726591	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT439641	hsa-miR-218-5p	HITS-CLIP	23212916
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
MIRT326934	hsa-miR-5692a	HITS-CLIP	23824327
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
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
MIRT326934	hsa-miR-5692a	HITS-CLIP	23824327
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613678	hsa-miR-4775	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
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
MIRT326934	hsa-miR-5692a	HITS-CLIP	23824327
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
MIRT616483	hsa-miR-335-3p	HITS-CLIP	23824327
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
MIRT326934	hsa-miR-5692a	HITS-CLIP	23824327
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613678	hsa-miR-4775	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
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
MIRT326934	hsa-miR-5692a	HITS-CLIP	23824327
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
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
MIRT326934	hsa-miR-5692a	HITS-CLIP	23824327
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613678	hsa-miR-4775	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
MIRT616483	hsa-miR-335-3p	HITS-CLIP	23824327
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
MIRT613679	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT613678	hsa-miR-4775	HITS-CLIP	23824327
MIRT613677	hsa-miR-607	HITS-CLIP	23824327
MIRT613676	hsa-miR-1305	HITS-CLIP	23824327
MIRT1345334	hsa-miR-129-5p	CLIP-seq
MIRT1345335	hsa-miR-3121-3p	CLIP-seq
MIRT1345336	hsa-miR-450b-5p	CLIP-seq
MIRT1345337	hsa-miR-4711-5p	CLIP-seq
MIRT1345338	hsa-miR-4778-3p	CLIP-seq
MIRT1345339	hsa-miR-4798-5p	CLIP-seq
MIRT1345340	hsa-miR-507	CLIP-seq
MIRT1345341	hsa-miR-539	CLIP-seq
MIRT1345342	hsa-miR-548a-3p	CLIP-seq
MIRT1345343	hsa-miR-548e	CLIP-seq
MIRT1345344	hsa-miR-548f	CLIP-seq
MIRT1345345	hsa-miR-557	CLIP-seq
MIRT1345346	hsa-miR-124	CLIP-seq
MIRT1345334	hsa-miR-129-5p	CLIP-seq
MIRT1345347	hsa-miR-3148	CLIP-seq
MIRT1345348	hsa-miR-3688-3p	CLIP-seq
MIRT1345349	hsa-miR-4317	CLIP-seq
MIRT1345350	hsa-miR-4477a	CLIP-seq
MIRT1345336	hsa-miR-450b-5p	CLIP-seq
MIRT1345351	hsa-miR-4698	CLIP-seq
MIRT1345337	hsa-miR-4711-5p	CLIP-seq
MIRT1345338	hsa-miR-4778-3p	CLIP-seq
MIRT1345339	hsa-miR-4798-5p	CLIP-seq
MIRT1345352	hsa-miR-506	CLIP-seq
MIRT1345340	hsa-miR-507	CLIP-seq
MIRT1345353	hsa-miR-518a-5p	CLIP-seq
MIRT1345354	hsa-miR-527	CLIP-seq
MIRT1345345	hsa-miR-557	CLIP-seq
MIRT1345334	hsa-miR-129-5p	CLIP-seq
MIRT1345336	hsa-miR-450b-5p	CLIP-seq
MIRT1345337	hsa-miR-4711-5p	CLIP-seq
MIRT1345338	hsa-miR-4778-3p	CLIP-seq
MIRT1345339	hsa-miR-4798-5p	CLIP-seq
MIRT1345340	hsa-miR-507	CLIP-seq
MIRT1345345	hsa-miR-557	CLIP-seq
MIRT1345334	hsa-miR-129-5p	CLIP-seq
MIRT1345336	hsa-miR-450b-5p	CLIP-seq
MIRT1345337	hsa-miR-4711-5p	CLIP-seq
MIRT1345338	hsa-miR-4778-3p	CLIP-seq
MIRT1345339	hsa-miR-4798-5p	CLIP-seq
MIRT1345340	hsa-miR-507	CLIP-seq
MIRT1345345	hsa-miR-557	CLIP-seq
MIRT2102116	hsa-miR-3667-3p	CLIP-seq
MIRT2102117	hsa-miR-4279	CLIP-seq
MIRT2102118	hsa-miR-520d-5p	CLIP-seq
MIRT2102119	hsa-miR-524-5p	CLIP-seq
MIRT2326630	hsa-miR-224	CLIP-seq
MIRT2326630	hsa-miR-224	CLIP-seq
MIRT2326631	hsa-miR-383	CLIP-seq
MIRT2326632	hsa-miR-4772-5p	CLIP-seq
MIRT1345335	hsa-miR-3121-3p	CLIP-seq
MIRT2622170	hsa-miR-433	CLIP-seq
MIRT2622171	hsa-miR-4714-3p	CLIP-seq
MIRT1345341	hsa-miR-539	CLIP-seq
MIRT1345342	hsa-miR-548a-3p	CLIP-seq
MIRT1345343	hsa-miR-548e	CLIP-seq
MIRT1345344	hsa-miR-548f	CLIP-seq
MIRT2690631	hsa-miR-1207-3p	CLIP-seq
MIRT2690632	hsa-miR-1263	CLIP-seq
MIRT2690633	hsa-miR-140-3p	CLIP-seq
MIRT2326630	hsa-miR-224	CLIP-seq
MIRT2690634	hsa-miR-27a	CLIP-seq
MIRT2690635	hsa-miR-27b	CLIP-seq
MIRT1345335	hsa-miR-3121-3p	CLIP-seq
MIRT2622170	hsa-miR-433	CLIP-seq
MIRT2622171	hsa-miR-4714-3p	CLIP-seq
MIRT2690636	hsa-miR-513a-5p	CLIP-seq
MIRT1345341	hsa-miR-539	CLIP-seq
MIRT1345342	hsa-miR-548a-3p	CLIP-seq
MIRT1345343	hsa-miR-548e	CLIP-seq
MIRT1345344	hsa-miR-548f	CLIP-seq

Show/Hide all (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
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0005925	Component	Focal adhesion	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007010	Process	Cytoskeleton organization	IMP	21834987
GO:0007015	Process	Actin filament organization	IBA
GO:0007267	Process	Cell-cell signaling	NAS	10679202
GO:0008360	Process	Regulation of cell shape	IMP	21834987
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	IMP	21834987
GO:0017124	Function	SH3 domain binding	IEA
GO:0030139	Component	Endocytic vesicle	IEA
GO:0030139	Component	Endocytic vesicle	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	IEA
GO:0050871	Process	Positive regulation of B cell activation	IMP	29636373
GO:0070161	Component	Anchoring junction	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA

MIM	HGNC	e!Ensembl
300374	13867	ENSG00000147010

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
VGDIIEVVGEVEEGWWEGVLNGKTGMFPSNFIKELSGESDELGISQDEQLSKSSLRETTG
SESDGGDSSSTKSEGANGTVATAAIQPKKVKGVGFGDIFKDKPIKLRPRSIEVENDFLPV
EKTIGKKLPATTATPDSSKTEMDSRTKSKDYCKVIFPYEAQNDDELTIKEGDIVTLINKD
CIDVGWWEGELNGRRGVFPDNFVKLLPPDFEKEGNRPKKPPPPSAPVIKQGAGTTERKHE
IKKIPPERPEMLPNRTEEKERPEREPKLDLQKPSVPAIPPKKPRPPKTNSLSRPGALPPR
RPERPVGPLTHTRGDSPKIDLAGSSLSGILDKDLSDRSNDIDLEGFDSVVSSTEKLSHPT
TSRPKATGRRPPSQSLTSSSLSSPDIFDSPSPEEDKEEHISLAHRGVDASKKTSKTVTIS
QVSDNKASLPPKPGTMAAGGGGPAPLSSAAPSPLSSSLGTAGHRANSPSLFGTEGKPKME
PAASSQAAVEELRTQVRELRSIIETMKDQQKREIKQLLSELDEEKKIRLRLQMEVNDIKK
ALQSK

Sequence length

665

Interactions

View interactions

	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

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs3747357, rs7883994	RCV005914155 RCV005911296
Cholangiocarcinoma	Benign	rs7883994	RCV005911298
Gastric cancer	Benign	rs7883994	RCV005911297
Immunodeficiency 61	Benign; Likely benign	rs2290805	RCV002488319
Laterality defects, autosomal dominant	Uncertain significance	rs767293120	RCV004765007
Lung cancer	Benign	rs3747357, rs7883994	RCV005914158 RCV005911299
Nonpapillary renal cell carcinoma	Likely benign	rs1569417196, rs370412822	RCV005928615 RCV005926776
Ovarian serous cystadenocarcinoma	Benign	rs3747357	RCV005914157
Sarcoma	Benign	rs3747357	RCV005914156
SH3KBP1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs113170456, rs145308311, rs2290805, rs3747357, rs138422588, rs149782443, rs150089181, rs752483118, rs750689665, rs7882276	RCV003940926 RCV003956165 RCV003921095 RCV003921096 RCV003956332 RCV003911244 RCV003898882 RCV003899766 RCV003944016 RCV003903178
Thymoma	Benign	rs150468291	RCV005926036
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs200596121, rs1213041798, rs150468291, rs752813115	RCV005924157 RCV005925400 RCV005926037 RCV005926775
Uterine corpus endometrial carcinoma	Benign	rs3747357, rs7883994	RCV005914159 RCV005911300

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthritis Psoriatic	Associate	34344401
Breast Neoplasms	Associate	17255943, 33627783
Carcinogenesis	Associate	33627783
Esophageal Squamous Cell Carcinoma	Associate	33179079
Genetic Diseases X Linked	Associate	29636373
Immunologic Deficiency Syndromes	Associate	29636373
Lymphatic Metastasis	Stimulate	33179079
Lymphoma B Cell	Associate	33627783
Nasopharyngeal Carcinoma	Associate	29582644
Neoplasms	Associate	17255943, 20927317, 23279575, 33179079
Squamous Cell Carcinoma of Head and Neck	Associate	20927317

SH3KBP1 (SH3 domain containing kinase binding protein 1)