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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	30011
Gene name Gene Name - the full gene name approved by the HGNC.	SH3 domain containing kinase binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SH3KBP1
Synonyms (NCBI Gene) Gene synonyms aliases	AGMX2, CD2BP3, CIN85, GIG10, HSB-1, HSB1, IMD61, MIG18
Disease Acronyms (UniProt) Disease acronyms from UniProt database	IMD61
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xp22.12
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(1)

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

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(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	10679202, 12177062, 14596919, 15090612, 15962011, 16164598, 16256071, 16751601, 17255943, 17306257, 18641129, 18680311, 19111555, 19268472, 20221403, 20551902, 20711168, 21516116, 21900206, 23178720, 23663663, 25036637, 28514442, 31413325, 31980649, 32296183, 32814053
GO:0005737	Component	Cytoplasm	IDA	20221403, 25468996
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	IEA
GO:0007267	Process	Cell-cell signaling	NAS	10679202
GO:0007411	Process	Axon guidance	TAS
GO:0008360	Process	Regulation of cell shape	IMP	21834987
GO:0016477	Process	Cell migration	IMP	21834987
GO:0017124	Function	SH3 domain binding	IEA
GO:0030139	Component	Endocytic vesicle	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0042059	Process	Negative regulation of epidermal growth factor receptor signaling pathway	TAS
GO:0043005	Component	Neuron projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0050871	Process	Positive regulation of B cell activation	IMP	29636373
GO:0061024	Process	Membrane organization	TAS

MIM	HGNC	e!Ensembl
300374	13867	ENSG00000147010

Protein

UniProt ID

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 Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Agammaglobulinemia	Agammaglobulinemia	rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392 View all (17 more)
Agammaglobulinemia, x-linked	AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2 (disorder)	rs128620183, rs128620184, rs128620187, rs128620188, rs128620185, rs128620186, rs128620189, rs864321660, rs864321661, rs864321662, rs864321663, rs128621190, rs864321664, rs864321665, rs1569293253 View all (60 more)
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	15059925
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Otitis media	Recurrent otitis media	ClinVar
Immunodeficiency	immunodeficiency 61	GenCC

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
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)