1. Gene
  2. CNN2 - calponin 2 Gene

CNN2 - calponin 2 Gene

中文名称:钙调钙素 2

种属: Homo sapiens

基因 ID: 1265 | 基因类型: protein coding

关于 CNN2

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,026,608-1,039,065 (from NCBI)

This gene has 12 transcripts (splice variants), 147 orthologues and 5 paralogues. Ubiquitous expression in lymph node (RPKM 70.8), appendix (RPKM 62.8) and 24 other tissues.

功能概要

由该基因编码的蛋白质可以结合肌动蛋白、钙调蛋白、肌钙蛋白 C 和原肌球蛋白,可能在肌动蛋白丝的结构组织中发挥作用。编码的蛋白质可以在平滑肌收缩和细胞粘附中发挥作用。该基因的几个假基因已被鉴定,并存在于染色体 1、2、3、6、9、11、13、15、16、21 和 22 上。选择性剪接导致编码不同亚型的多个转录变体。[RefSeq 提供,2015 年 1 月]

The protein encoded by this gene, which can bind actin, Calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Several pseudogenes of this gene have been identified, and are present on chromosomes 1, 2, 3, 6, 9, 11, 13, 15, 16, 21 and 22. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]

CNN2 基因产物(4)

mRNA Protein Name
NM_001303499.2 NP_001290428.1 calponin-2 isoform c
NM_001303501.2 NP_001290430.1 calponin-2 isoform d
NM_004368.4 NP_004359.1 calponin-2 isoform a
NM_201277.3 NP_958434.1 calponin-2 isoform b
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within cellular response to mechanical stimulus IDA
IDA: 通过直接分析推断
16236705 GOA
acts upstream of or within regulation of actin filament-based process IDA
IDA: 通过直接分析推断
16236705 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in stress fiber IDA
IDA: 通过直接分析推断
16236705 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
蛋白主名 其他名称

calponin-2

calponin H2, smooth muscle

关联疾病

疾病名称 别名
Spastic Paraplegia 77, Autosomal Recessive

SPG77

Hereditary Spastic Paraplegia 77

Autosomal Recessive Spastic Paraplegia 77

Autosomal Recessive Spastic Paraplegia Type 77

Granulomatous Amebic Encephalitis

Granulomatous Amoebic Encephalitis

Acanthamoeba Encephalitis

Acanthamoeba Granulomatous Encephalitis

Granulomatous Amebic Encephalitis Due To Acanthamoeba

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
Macaca mulatta CNN2 VGNC VGNC:109603
Bos taurus CNN2 VGNC VGNC:27509
Canis familiaris CNN2 VGNC VGNC:57307
Mus musculus CNN2 MGD MGI:105093
Rattus norvegicus CNN2 RGD RGD:1589807