1. Gene
  2. SH3BP2 - SH3 domain binding protein 2 Gene

SH3BP2 - SH3 domain binding protein 2 Gene

Homo sapiens

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

Gene ID: 6452 | Gene type: protein coding

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

SH3BP2 Protein Structure

PH

PH: PH domain (27 - 127)

SH2

SH2: SH2 domain (466 - 538)

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  • 561 a.a.
Protein Preferred Names Protein Names

SH3 domain-binding protein 2

Abl-SH3 binding protein 2

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

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