SH3BP2 - SH3 domain binding protein 2 Gene

Also Known as 3BP2; CRBM; CRPM; 3BP-2; RES4-23

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6452

About SH3BP2

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:2,793,085-2,841,096 (from NCBI)

This gene has 28 transcripts (splice variants), 192 orthologues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 16.5), skin (RPKM 14.5) and 25 other tissues.

Summary

The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK Protein Tyrosine Kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

SH3BP2 Products (4)

mRNA	Protein	Name
NM_001122681.2	NP_001116153.1	SH3 domain-binding protein 2 isoform a
NM_001145855.2	NP_001139327.1	SH3 domain-binding protein 2 isoform c
NM_001145856.2	NP_001139328.1	SH3 domain-binding protein 2 isoform b
NM_003023.4	NP_003014.3	SH3 domain-binding protein 2 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Verweise	Source
enables phosphotyrosine residue binding	IPI IPI: Inferred from physical interaction	20624904	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11390470	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SH3BP2 Protein Structure

SH2

0
100
200
300
400
500
561 a.a.

Protein Preferred Names	Protein Names
SH3 domain-binding protein 2	Abl-SH3 binding protein 2

SH3BP2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SH3BP2	P78314	KIT	Homo sapiens	P10721	FPS	24728074
Intra	SH3BP2	P78314	SH3KBP1	Homo sapiens	Q96B97	Imaging	17306257
Intra	SH3BP2	P78314	SH3KBP1	Homo sapiens	Q96B97	Filter Binding	17306257
Intra	SH3BP2	P78314	SH3KBP1	Homo sapiens	Q96B97	Y2H	17306257
Intra	SH3BP2	P78314	TNKS2	Homo sapiens	Q9H2K2	FPS	22153077
Intra	SH3BP2	P78314	VAV1	Homo sapiens	P15498	Anti Bait CoIP	15345594
Intra	SH3BP2	P78314	VAV1	Homo sapiens	P15498	Pull Down	15345594
Intra	SH3BP2	P78314	VAV1	Homo sapiens	P15498	Density Sedimentation	17306257
Intra	SH3BP2	P78314	VAV1	Homo sapiens	P15498	Y2H	15345594
Intra	SH3BP2	P78314	DBNL	Homo sapiens	Q9UJU6	Y2H	17306257
Intra	SH3BP2	P78314	DBNL	Homo sapiens	Q9UJU6	Filter Binding	17306257
Intra	SH3BP2	P78314	DBNL	Homo sapiens	Q9UJU6	Anti Tag CoIP	17306257
Intra	SH3BP2	P78314	DBNL	Homo sapiens	Q9UJU6	Density Sedimentation	17306257

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cherubism	CRBM Familial Benign Giant-Cell Tumor Of The Jaw Familial Fibrous Dysplasia Of Jaw Familial Multilocular Cystic Disease Of The Jaws
Giant Cell Reparative Granuloma	Central Giant Cell Granuloma Central Giant Cell Reparative Granuloma Of Jaw Central Giant Cell Granuloma Granuloma, Giant Cell Granuloma, Giant Cell Reparative Giant Cell Lesion Of Small Bones Giant Cell Granuloma, Nos
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Arc Syndrome ARCS1 Arthrogryposis Renal Dysfunction Cholestasis Syndrome Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome Arcs Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome Arthrogryposis, Renal Dysfunction, And Cholestasis Arthrogryposis-Renal Dysfunction-Cholestasis Arthrogryposis - Renal Dysfunction - Cholestasis Arthrogryposis Multiplex Congenita, Renal Dysfunction, And Cholestasis Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome 1 Arthrogryposis Renal Dysfunction And Cholestasis 1 Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1 Kidney Failure Renal Insufficiency
Oculoectodermal Syndrome	Aplasia Cutis Congenita With Epibulbar Dermoids Toriello-Lacassie-Droste Syndrome Oculoectodermal Syndrome, Somatic OES Aplasia Cutis Congenita-Epibulbar Dermoids Syndrome Oculo-Ectodermal Syndrome Toriello Lacassie Droste Syndrome
Achard Syndrome	Arachnodactyly, Receding Lower Jaw And Joint Laxity Of Hands/Feet
Psoriasis 15	Psors15
Bone Giant Cell Tumor	Giant Cell Tumor Of Bone Osteoclastoma Gct Of Bone Bone Giant Cell Tumour Giant Cell Myeloma Giant Cell Neoplasm Of Bone Giant Cell Tumour Of Bone
Epulis	Epulides Gingival Polyp Polyp Of Gum
Endosteal Hyperostosis, Autosomal Dominant	Osteosclerosis Worth Syndrome Osteosclerosis, Autosomal Dominant Hyperostosis, Endosteal Endosteal Hyperostosis, Worth Type Worth Disease Autosomal Dominant Endosteal Hyperostosis Autosomal Dominant Osteosclerosis, Worth Type Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus Autosomal Dominant Osteosclerosis Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus Worth'S Syndrome Worth Type Autosomal Dominant Osteosclerosis Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus Osteosclerosis, Autosomal Dominant, Worth Type WENHY Endosteal Hyperostosis Autosomal Dominant Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus Osteosclerosis Autosomal Dominant Acquired Osteosclerosis
Ossifying Fibroma	Peripheral Ossifying Fibroma Fibro-Osteoma Fibroma Ossifying Fibroma, Ossifying
Bone Benign Neoplasm
Psoriasis 2	PSORS2 Psoriasis Psoriasis Vulgaris Pv Psoriasis, Susceptibility To, Type 2
Tooth Resorption
Gingival Fibromatosis	Hereditary Gingival Fibromatosis Hereditary Gingival Hyperplasia Autosomal Dominant Gingival Fibromatosis Autosomal Dominant Gingival Hyperplasia Fibromatosis, Gingival, Hereditary Fibromatosis, Gingival
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS12831	SH3BP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SH3BP2	VGNC	VGNC:34566
Mus musculus	SH3BP2	MGD	MGI:1346349
Macaca mulatta	SH3BP2	VGNC	VGNC:77201
Felis catus	SH3BP2	VGNC	VGNC:65101
Canis familiaris	SH3BP2	VGNC	VGNC:46118
Rattus norvegicus	SH3BP2	RGD	RGD:1310588
Others	SH3BP2	NCBI