2. Gene
  3. XIRP2 - xin actin binding repeat containing 2 Gene

XIRP2 - xin actin binding repeat containing 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含 xin 肌动蛋白结合重复 2

种属: Homo sapiens

同用名: CMYA3

基因 ID: 129446 | 基因类型: protein coding

关于 XIRP2

Cytogenetic location: 2q24.3 Genomic coordinates (GRCh38): 2:166,888,480-167,259,753 (from NCBI)

This gene has 9 transcripts (splice variants), 265 orthologues and 1 paralogue. Biased expression in heart (RPKM 30.7) and prostate (RPKM 5.9).

功能概要

启用肌动蛋白丝结合活性。预计参与肌动蛋白细胞骨架组织和心脏发育。预测作用于心肌组织形态发生的上游或内部；细胞-细胞连接组织；和室间隔发育。与粘着斑和应力纤维共定位。 [由基因组资源联盟提供，2022 年 4 月]

Enables actin filament binding activity. Predicted to be involved in actin Cytoskeleton organization and heart development. Predicted to act upstream of or within cardiac muscle tissue morphogenesis; cell-cell junction organization; and ventricular septum development. Colocalizes with focal adhesion and stress fiber. [provided by Alliance of Genome Resources, Apr 2022]

XIRP2 基因产物(5)

mRNA Protein Name
NM_001079810.4 NP_001073278.1 xin actin-binding repeat-containing protein 2 isoform 2
NM_001199143.2 NP_001186072.1 xin actin-binding repeat-containing protein 2 isoform 3
NM_001199144.2 NP_001186073.1 xin actin-binding repeat-containing protein 2 isoform 4
NM_001199145.2 NP_001186074.1 xin actin-binding repeat-containing protein 2 isoform 5
NM_152381.6 NP_689594.4 xin actin-binding repeat-containing protein 2 isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables actin filament binding IMP
IMP: 通过突变表型推断
15454575 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with focal adhesion IMP
IMP: 通过突变表型推断
15454575 GOA
colocalizes with stress fiber IMP
IMP: 通过突变表型推断
15454575 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

XIRP2 蛋白结构

Xin

Xin: Xin repeat (572 - 587)

Xin

Xin: Xin repeat (612 - 627)

Xin

Xin: Xin repeat (765 - 780)

Xin

Xin: Xin repeat (837 - 851)

Xin

Xin: Xin repeat (870 - 884)

Xin

Xin: Xin repeat (907 - 921)

Xin

Xin: Xin repeat (1012 - 1027)

Xin

Xin: Xin repeat (1050 - 1065)

Xin

Xin: Xin repeat (1089 - 1103)

Xin

Xin: Xin repeat (1122 - 1137)

Xin

Xin: Xin repeat (1234 - 1249)

Xin

Xin: Xin repeat (1307 - 1322)

Xin

Xin: Xin repeat (1345 - 1360)

Xin

Xin: Xin repeat (1521 - 1534)

  • 0
  • 600
  • 1200
  • 1800
  • 2400
  • 3000
  • 3549 a.a.
蛋白主名 其他名称

xin actin-binding repeat-containing protein 2

beta-xin

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 27

DFNB27

Autosomal Recessive Nonsyndromic Deafness 27

Autosomal Recessive Deafness 27
Deafness, Autosomal Dominant 16

DFNA16

Autosomal Dominant Nonsyndromic Deafness 16

Autosomal Dominant Deafness 16
Myopathy, Myofibrillar, 5

Myofibrillar Myopathy 5

MFM5

Myopathy, Myofibrillar, Filamin C-Related

Filaminopathy, Autosomal Dominant

Filaminopathy

Muscle Filaminopathy

Autosomal Dominant Filaminopathy

Mfm Filamin C-Related

Myopathy Myofibrillar Filamin C-Related

Myopathy, Myofibrillar, Type 5
Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15877 XIRP2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris XIRP2 VGNC VGNC:48450
Felis catus XIRP2 VGNC VGNC:67105
Bos taurus XIRP2 VGNC VGNC:36986
Mus musculus XIRP2 MGD MGI:2685198
Rattus norvegicus XIRP2 RGD RGD:1302980
Macaca mulatta XIRP2 VGNC VGNC:78953
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