1. Gene
  2. CPNE7 - copine 7 Gene

CPNE7 - copine 7 Gene

中文名称:应对 7

种属: Homo sapiens

基因 ID: 27132 | 基因类型: protein coding

关于 CPNE7

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:89,575,758-89,597,246 (from NCBI)

This gene has 9 transcripts (splice variants), 207 orthologues and 8 paralogues. Broad expression in brain (RPKM 2.3), stomach (RPKM 1.2) and 16 other tissues.

功能概要

该基因编码由钙依赖性膜结合蛋白组成的 copine 家族成员。该基因产物包含两个 N 端 C2 结构域和一个 von Willebrand 因子 A 结构域。编码的蛋白质可能参与膜运输。已经为该基因发现了编码不同亚型的两个选择性剪接的转录物变体。[RefSeq 提供,2008 年 11 月]

This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

CPNE7 基因产物(2)

mRNA Protein Name
NM_014427.5 NP_055242.1 copine-7 isoform b
NM_153636.3 NP_705900.1 copine-7 isoform a
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to calcium ion IDA
IDA: 通过直接分析推断
21087455 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
21087455 GOA
located in nucleus IDA
IDA: 通过直接分析推断
21087455 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
21087455 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

CPNE7 蛋白结构

C2

C2: C2 domain (29 - 112)

C2

C2: C2 domain (236 - 320)

Copine

Copine: Copine (401 - 548)

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

copine-7

copine VII

CPNE7 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
CPNE7 Q9UBL6 ADAMTSL4 Homo sapiens Q6UY14-3 25416956
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
Dentin Caries

Compound Dental Caries

Dental Caries Extending Into Dentine

Dental Caries Extending Into Dentin

Nephronophthisis 3

NPHP3

Nph3

Adolescent Nephronophthisis

Nephronophthisis, Type 3

Dentin Sensitivity

Sensitive Dentin

Kbg Syndrome

KBGS

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

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
Mus musculus CPNE7 MGD MGI:2142747
Macaca mulatta CPNE7 VGNC VGNC:71469
Bos taurus CPNE7 VGNC VGNC:27663
Felis catus CPNE7 VGNC VGNC:61134
Rattus norvegicus CPNE7 RGD RGD:1307466
Canis familiaris CPNE7 VGNC VGNC:39566