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  2. SH3BP2 - SH3 domain binding protein 2 Gene

SH3BP2 - SH3 domain binding protein 2 Gene

中文名称:SH3 结构域结合蛋白 2

种属: Homo sapiens

同用名: 3BP2; CRBM; CRPM; 3BP-2; RES4-23

基因 ID: 6452 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质具有一个 N 端 pleckstrin 同源 (PH) 结构域、一个 SH3 结合脯氨酸富集区和一个 C 端 SH2 结构域。该蛋白结合多种蛋白的 SH3 结构域,包括 ABL1Syk 蛋白酪氨酸激酶,并作为细胞质衔接蛋白发挥作用,以正向调节 T 细胞、自然杀伤细胞 (NK) 和嗜碱性细胞的转录活性。该基因的突变会导致小天使。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphotyrosine residue binding IPI
IPI: 通过物理相互作用推断
20624904 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11390470 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SH3BP2 蛋白结构

PH

PH: PH domain (27 - 127)

SH2

SH2: SH2 domain (466 - 538)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 561 a.a.
蛋白主名 其他名称

SH3 domain-binding protein 2

Abl-SH3 binding protein 2

SH3BP2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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