1. Gene
  2. SORBS2 - sorbin and SH3 domain containing 2 Gene

SORBS2 - sorbin and SH3 domain containing 2 Gene

中文名称:含山梨醇和 SH3 结构域

种属: Homo sapiens

同用名: ARGBP2; PRO0618

基因 ID: 8470 | 基因类型: protein coding

关于 SORBS2

Cytogenetic location: 4q35.1 Genomic coordinates (GRCh38): 4:185,585,523-185,956,372 (from NCBI)

This gene has 73 transcripts (splice variants), 207 orthologues and 12 paralogues. Broad expression in heart (RPKM 46.6), adrenal (RPKM 26.3) and 19 other tissues.

功能概要

Arg 和 c-Abl 代表非受体蛋白酪氨酸激酶 Abelson 家族的哺乳动物成员。它们通过后一组蛋白质的羧基端存在的 SH3 结构域与 Arg/Abl 结合蛋白相互作用。该基因编码含有 sorbin 和 SH3 结构域的 2 蛋白。它具有三个 C 端 SH3 结构域和一个与脂筏蛋白相互作用的 N 端山梨醇同源 (SoHo) 结构域。这种蛋白质在上皮细胞和心肌细胞中的亚细胞定位表明它作为衔接蛋白发挥作用,在应力纤维中组装信号复合物,并且它是 Abl 家族激酶和肌动蛋白细胞骨架之间的潜在联系。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin Cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

SORBS2 基因产物(42)

mRNA Protein Name
NM_001145670.2 NP_001139142.1 sorbin and SH3 domain-containing protein 2 isoform 3
NM_001145671.3 NP_001139143.1 sorbin and SH3 domain-containing protein 2 isoform 4
NM_001145672.2 NP_001139144.1 sorbin and SH3 domain-containing protein 2 isoform 5
NM_001145673.3 NP_001139145.1 sorbin and SH3 domain-containing protein 2 isoform 6
NM_001145674.3 NP_001139146.1 sorbin and SH3 domain-containing protein 2 isoform 7
NM_001145675.3 NP_001139147.1 sorbin and SH3 domain-containing protein 2 isoform 8
NM_001270771.3 NP_001257700.1 sorbin and SH3 domain-containing protein 2 isoform 9
NM_001394245.1 NP_001381174.1 sorbin and SH3 domain-containing protein 2 isoform 10
NM_001394246.1 NP_001381175.1 sorbin and SH3 domain-containing protein 2 isoform 11
NM_001394247.1 NP_001381176.1 sorbin and SH3 domain-containing protein 2 isoform 11
NM_001394248.1 NP_001381177.1 sorbin and SH3 domain-containing protein 2 isoform 12
NM_001394249.1 NP_001381178.1 sorbin and SH3 domain-containing protein 2 isoform 12
NM_001394250.1 NP_001381179.1 sorbin and SH3 domain-containing protein 2 isoform 13
NM_001394251.1 NP_001381180.1 sorbin and SH3 domain-containing protein 2 isoform 9
NM_001394252.1 NP_001381181.1 sorbin and SH3 domain-containing protein 2 isoform 9
NM_001394253.1 NP_001381182.1 sorbin and SH3 domain-containing protein 2 isoform 9
NM_001394254.1 NP_001381183.1 sorbin and SH3 domain-containing protein 2 isoform 14
NM_001394255.1 NP_001381184.1 sorbin and SH3 domain-containing protein 2 isoform 15
NM_001394256.1 NP_001381185.1 sorbin and SH3 domain-containing protein 2 isoform 15
NM_001394257.1 NP_001381186.1 sorbin and SH3 domain-containing protein 2 isoform 15
NM_001394258.1 NP_001381187.1 sorbin and SH3 domain-containing protein 2 isoform 16
NM_001394259.1 NP_001381188.1 sorbin and SH3 domain-containing protein 2 isoform 17
NM_001394260.1 NP_001381189.1 sorbin and SH3 domain-containing protein 2 isoform 17
NM_001394261.1 NP_001381190.1 sorbin and SH3 domain-containing protein 2 isoform 18
NM_001394262.1 NP_001381191.1 sorbin and SH3 domain-containing protein 2 isoform 19
NM_001394263.1 NP_001381192.1 sorbin and SH3 domain-containing protein 2 isoform 19
NM_001394264.1 NP_001381193.1 sorbin and SH3 domain-containing protein 2 isoform 20
NM_001394265.1 NP_001381194.1 sorbin and SH3 domain-containing protein 2 isoform 21
NM_001394266.1 NP_001381195.1 sorbin and SH3 domain-containing protein 2 isoform 2
NM_001394267.1 NP_001381196.1 sorbin and SH3 domain-containing protein 2 isoform 2
NM_001394268.1 NP_001381197.1 sorbin and SH3 domain-containing protein 2 isoform 2
NM_001394270.1 NP_001381199.1 sorbin and SH3 domain-containing protein 2 isoform 2
NM_001394271.1 NP_001381200.1 sorbin and SH3 domain-containing protein 2 isoform 2
NM_001394272.1 NP_001381201.1 sorbin and SH3 domain-containing protein 2 isoform 2
NM_001394273.1 NP_001381202.1 sorbin and SH3 domain-containing protein 2 isoform 22
NM_001394274.1 NP_001381203.1 sorbin and SH3 domain-containing protein 2 isoform 23
NM_001394275.1 NP_001381204.1 sorbin and SH3 domain-containing protein 2 isoform 23
NM_001394276.1 NP_001381205.1 sorbin and SH3 domain-containing protein 2 isoform 24
NM_001394277.1 NP_001381206.1 sorbin and SH3 domain-containing protein 2 isoform 25
NM_001395207.1 NP_001382136.1 sorbin and SH3 domain-containing protein 2 isoform 26
NM_003603.7 NP_003594.3 sorbin and SH3 domain-containing protein 2 isoform 1
NM_021069.6 NP_066547.1 sorbin and SH3 domain-containing protein 2 isoform 2
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 identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15161933 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

SORBS2 蛋白结构

Sorb

Sorb: Sorbin homologous domain (67 - 116)

SH3_1

SH3_1: SH3 domain (869 - 913)

SH3_1

SH3_1: SH3 domain (944 - 991)

SH3_9

SH3_9: Variant SH3 domain (1048 - 1098)

  • 0
  • 200
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  • 1000
  • 1100 a.a.
蛋白主名 其他名称

sorbin and SH3 domain-containing protein 2

Arg binding protein 2

SORBS2 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
种属内
SORBS2 O94875 HEL2 Homo sapiens V9HW98 25416956
种属内
SORBS2 O94875 SH2D4A Homo sapiens Q9H788-2 25416956
种属内
SORBS2 O94875 SH2D4A Homo sapiens Q9H788-2 25416956
种属内
SORBS2 O94875 SH2D4A Homo sapiens Q9H788-2 25416956
种属内
SORBS2 O94875 PAK2 Homo sapiens Q13177 16374509
种属内
SORBS2 O94875 PAK2 Homo sapiens Q13177 16374509
种属内
SORBS2 O94875 ATPAF2 Homo sapiens Q8N5M1 25416956
种属内
SORBS2 O94875 VPS37C Homo sapiens A5D8V6 25416956
种属内
SORBS2 O94875 VPS37C Homo sapiens A5D8V6 25416956
种属内
SORBS2 O94875 PALLD Homo sapiens Q8WX93
Y2H
16125169
种属内
SORBS2 O94875 PALLD Homo sapiens Q8WX93 16125169
种属内
SORBS2 O94875 WAS Homo sapiens P42768 25416956
种属内
SORBS2 O94875 YWHAZ Homo sapiens P63104 15161933
种属内
SORBS2 O94875 NCK2 Homo sapiens O43639 25416956
种属内
SORBS2 O94875 NCK2 Homo sapiens O43639 25416956
种属内
SORBS2 O94875 EFS Homo sapiens O43281 25416956
种属间
SORBS2 O94875 Q9WMX2-PRO_0000037551 Hepatitis C virus Q9WMX2-PRO_0000037551 18985028
种属间
SORBS2 O94875 Q9WMX2-PRO_0000037551 Hepatitis C virus Q9WMX2-PRO_0000037551 18985028
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
Hypotrichosis 13

HYPT13

Hypotrichosis With Woolly Hair

Hypotrichosis, Type 13

Retinitis Pigmentosa 23

RP23

Retinitis Pigmentosa-23

Retinitis Pigmentosa, Type 23

Rp23 Gene

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy

Fshd

Landouzy-Dejerine Muscular Dystrophy

Muscular Dystrophy, Facioscapulohumeral

FSHD1

Fshd1a

Muscular Dystrophy, Facioscapulohumeral, Type 1a

Facioscapulohumeral Muscular Dystrophy Type 1a

Fsh Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy 1a

Facioscapulohumeral Atrophy

Facioscapulohumeral Myopathy

Muscular Dystrophy, Facioscapulohumeral, Type 1

Facioscapulohumeral Muscular Dystrophy Type 1

Landouzy Dejerine Muscular Dystrophy

Muscular Dystrophy, Landouzy-Dejerine

Fshmd1a

Facio-Scapulo-Humeral Dystrophy

Facioscapulohumeral Type Progressive Muscular Dystrophy

Facioscapuloperoneal Muscular Dystrophy

Facioscapulohumeral Dystrophy

Fsh Dystrophy

Landouzy-Dejerine Dystrophy

Landouzy-Dejerine Myopathy

Fmd

Facioscapulohumeral Muscular Dystrophy-1a

Muscular Dystrophy Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral, Type 1

Landouzy-Dejerine Disease

Landouzy-Déjerine Atrophy

Facioscapulohumeral Muscle Dystrophy

Fmd - [Facioscapulohumeral Muscular Dystrophy]

Fsh - [Facioscapulohumeral Muscular Dystrophy]

Fshd - [Facioscapulohumeral Muscular Dystrophy]

Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

Landouzy-Déjérine Muscular Dystrophy

Myopathy, Spheroid Body

Spheroid Body Myopathy

Autosomal Dominant Spheroid Body Myopathy

SBM

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

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 SORBS2 VGNC VGNC:106942
Felis catus SORBS2 VGNC VGNC:80007
Macaca mulatta SORBS2 VGNC VGNC:77767
Canis familiaris SORBS2 VGNC VGNC:51827
Mus musculus SORBS2 MGD MGI:1924574
Rattus norvegicus SORBS2 RGD RGD:620061