1. Gene
  2. CDHR2 - cadherin related family member 2 Gene

CDHR2 - cadherin related family member 2 Gene

中文名称:钙粘素相关家族成员 2

种属: Homo sapiens

同用名: PCLCK; PCLKC; PCDH24

基因 ID: 54825 | 基因类型: protein coding

关于 CDHR2

Cytogenetic location: 5q35.2 Genomic coordinates (GRCh38): 5:176,542,511-176,595,974 (from NCBI)

This gene has 7 transcripts (splice variants), 116 orthologues and 33 paralogues. Biased expression in duodenum (RPKM 125.9), small intestine (RPKM 110.9) and 3 other tissues.

功能概要

该基因是原钙粘蛋白家族的成员,代表较大的钙粘蛋白超家族的一个子集。原钙粘蛋白家族的成员编码非经典钙粘蛋白,其作为钙依赖性细胞间粘附分子发挥作用。这种原钙粘蛋白代表了一种新的肿瘤抑制候选物。已经鉴定出编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供,2010 年 1 月]

This gene is a member of the protocadherin family, which represents a subset of the larger Cadherin superfamily. The members of the protocadherin family encode non-classical Cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010]

CDHR2 基因产物(2)

mRNA Protein Name
NM_001171976.2 NP_001165447.1 cadherin-related family member 2 precursor
NM_017675.6 NP_060145.3 cadherin-related family member 2 precursor
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 cell adhesion molecule binding IDA
IDA: 通过直接分析推断
24725409 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12117771 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in brush border assembly IDA
IDA: 通过直接分析推断
32209652 GOA
involved in cell-cell adhesion mediated by cadherin IDA
IDA: 通过直接分析推断
12117771 GOA
involved in epithelial cell differentiation IDA
IDA: 通过直接分析推断
12117771 GOA
involved in intermicrovillar adhesion IMP
IMP: 通过突变表型推断
24725409 GOA
involved in negative regulation of cell growth involved in contact inhibition IDA
IDA: 通过直接分析推断
12117771 GOA
involved in regulation of microvillus length IMP
IMP: 通过突变表型推断
24725409 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
12117771 GOA
located in brush border IDA
IDA: 通过直接分析推断
21330445 GOA
located in brush border membrane IDA
IDA: 通过直接分析推断
24725409 GOA
located in microvillus IDA
IDA: 通过直接分析推断
32209652 GOA
located in microvillus membrane IDA
IDA: 通过直接分析推断
12117771 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
24725409 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

CDHR2 蛋白结构

Cadherin

Cadherin: Cadherin domain (246 - 339)

Cadherin

Cadherin: Cadherin domain (485 - 576)

Cadherin

Cadherin: Cadherin domain (590 - 686)

Cadherin

Cadherin: Cadherin domain (700 - 796)

Cadherin

Cadherin: Cadherin domain (938 - 1039)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1310 a.a.
蛋白主名 其他名称

cadherin-related family member 2

protocadherin-24

CDHR2 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
CDHR2 Q9BYE9 MYO7B Homo sapiens Q6PIF6 24725409
种属内
CDHR2 Q9BYE9 MYO7B Homo sapiens Q6PIF6 24725409
种属内
CDHR2 Q9BYE9 MAST2 Homo sapiens Q6P0Q8
Y2H
12117771
种属内
CDHR2 Q9BYE9 CDHR5 Homo sapiens Q9HBB8-1 24725409
种属内
CDHR2 Q9BYE9 CDHR5 Homo sapiens Q9HBB8-1
SEM
24725409
种属内
CDHR2 Q9BYE9 USH1C Homo sapiens Q9Y6N9-1 24725409
种属内
CDHR2 Q9BYE9 CDHR5 Homo sapiens Q9HBB8-2 24725409
种属内
CDHR2 Q9BYE9 CDHR5 Homo sapiens Q9HBB8-2
SEM
24725409
种属内
CDHR2 Q9BYE9 CDHR5 Homo sapiens Q9HBB8-2 24725409
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
Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes

Usher Syndrome, Type I

USH1

Usher Syndrome Type 1

Us1

Usher Syndrome, Type 1b

Usher Syndrome Type 1e

Retinitis Pigmentosa And Congenital Deafness

Usher Syndrome, Type Ie

USH1E

Usher Syndrome, Type 1e

Usher Syndrome, Type 1a

Usher Syndrome, Type Ib

Usher Syndrome Type 1b

Usher Syndrome Type Ie

Usher Syndrome Type I

Usher 1

Usher Syndrome, Type 1

Ush1a

Usher Syndrome, Type I, French Variety

Usher Syndrome, Type Ia

Usher Syndrome 1b

USH1B

Usher'S Syndrome Type 1b

Usher Syndrome Type Ib

Ushib

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
Rattus norvegicus CDHR2 RGD RGD:1560576
Bos taurus CDHR2 VGNC VGNC:27109
Canis familiaris CDHR2 VGNC VGNC:39038
Mus musculus CDHR2 MGD MGI:2687323
Felis catus CDHR2 VGNC VGNC:60689
Macaca mulatta CDHR2 VGNC VGNC:110476