1. Gene
  2. CDH8 - cadherin 8 Gene

CDH8 - cadherin 8 Gene

中文名称:钙粘素 8

种属: Homo sapiens

同用名: Nbla04261

基因 ID: 1006 | 基因类型: protein coding

关于 CDH8

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:61,647,250-62,036,438 (from NCBI)

This gene has 14 transcripts (splice variants), 213 orthologues and 33 paralogues. Biased expression in brain (RPKM 2.8) and ovary (RPKM 0.2).

功能概要

该基因编码来自钙粘蛋白超家族的 II 型经典钙粘蛋白,即介导钙依赖性细胞粘附的整合膜蛋白。成熟的钙粘蛋白由一个大的 N 末端胞外结构域、一个单一的跨膜结构域和一个小的、高度保守的 C 末端胞质结构域组成。细胞外结构域由 5 个子结构域组成,每个子结构域包含一个钙粘蛋白基序,并且似乎决定了该蛋白质的嗜同细胞粘附活性的特异性。 II 型 (非典型) 钙粘蛋白是根据它们缺乏 I 型钙粘蛋白特有的 HAV 细胞粘附识别序列来定义的。这种特殊的钙粘蛋白在大脑中表达,并被推定参与突触粘附、轴突生长和引导。[RefSeq 提供,2008 年 7 月]

This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) Cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I Cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq, Jul 2008]

CDH8 基因产物(2)

mRNA Protein Name
NM_001410893.1 NP_001397822.1 cadherin-8 isoform 2
NM_001796.5 NP_001787.2 cadherin-8 isoform 1 preproprotein

CDH8 蛋白结构

Cadherin

Cadherin: Cadherin domain (75 - 158)

Cadherin

Cadherin: Cadherin domain (172 - 266)

Cadherin

Cadherin: Cadherin domain (281 - 382)

Cadherin

Cadherin: Cadherin domain (397 - 487)

Cadherin

Cadherin: Cadherin domain (500 - 597)

Cadherin_C

Cadherin_C: Cadherin cytoplasmic region (646 - 791)

  • 0
  • 200
  • 400
  • 600
  • 799 a.a.
蛋白主名 其他名称

cadherin-8

cadherin 8, type 2

重组 CDH8 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7704 Cadherin-8 Protein, Human (HEK293, His) P55286 (A30-M621) ≥95%

关联疾病

疾病名称 别名
Craniofacial-Deafness-Hand Syndrome

CDHS

Craniofacial Deafness Hand Syndrome

Sommer-Young-Wee-Frye Syndrome

Features Of Flat Facial Profile, Hypertelorism, Hypoplastic Nose With Slitlike Nares, And A Sensorineural Hearing Loss

Craniofacial-Hearing Loss-Hand Syndrome

Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome

Eem Syndrome

Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy

EEMS

Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy Syndrome

Albrectsen-Svendsen Syndrome

Ohdo-Hirayama-Terawaki Syndrome

Dysplasia, Ectodermal, Ectrodactyly, And Macular Dystrophy

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 CDH8 RGD RGD:69286
Macaca mulatta CDH8 VGNC VGNC:70976
Canis familiaris CDH8 VGNC VGNC:39035
Mus musculus CDH8 MGD MGI:107434
Bos taurus CDH8 VGNC VGNC:109398
Others CDH8 NCBI