1. Gene
  2. CDH20 - cadherin 20 Gene

CDH20 - cadherin 20 Gene

中文名称:钙粘素 20

种属: Homo sapiens

同用名: Cdh7; CDH7L3

基因 ID: 28316 | 基因类型: protein coding

关于 CDH20

Cytogenetic location: 18q21.33 Genomic coordinates (GRCh38): 18:61,333,430-61,555,779 (from NCBI)

This gene has 4 transcripts (splice variants), 211 orthologues and 33 paralogues. Biased expression in brain (RPKM 10.7) and fat (RPKM 4.1).

功能概要

该基因是来自钙粘蛋白超家族的 II 型经典钙粘蛋白,是位于 18 号染色体簇中的三个钙粘蛋白 7 样基因之一。编码的膜蛋白是一种钙依赖性细胞-细胞粘附糖蛋白,由五个细胞外钙粘蛋白重复序列组成,一个跨膜区和高度保守的细胞质尾部。 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。由于细胞内粘附紊乱是肿瘤细胞侵袭和转移的先决条件,因此钙粘蛋白被认为是抑癌基因的主要候选者。[RefSeq 提供,2008 年 7 月]

This gene is a type II classical Cadherin from the Cadherin superfamily and one of three Cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular Cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) Cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I Cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, Cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008]

CDH20 基因产物(1)

mRNA Protein Name
NM_031891.4 NP_114097.2 cadherin-20 preproprotein

CDH20 蛋白结构

Cadherin

Cadherin: Cadherin domain (68 - 156)

Cadherin

Cadherin: Cadherin domain (170 - 264)

Cadherin

Cadherin: Cadherin domain (279 - 380)

Cadherin

Cadherin: Cadherin domain (394 - 485)

Cadherin

Cadherin: Cadherin domain (498 - 595)

Cadherin_C

Cadherin_C: Cadherin cytoplasmic region (644 - 793)

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  • 200
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  • 600
  • 801 a.a.
蛋白主名 其他名称

cadherin-20

cadherin 20, type 2

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

Choanal Atresia, Posterior

Choanal Atresia

Atresia Of Nares

Posterior Choanal Atresia

PCA

Imperforate Nares

Choanal Fusion

Congenital Stenosis Of Nares

Congenital Stenosis Of Choanae

Nasal Atresia Nos

Charge Syndrome

Charge Association

Hall-Hittner Syndrome

Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

Hhs

Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

CHARGES

Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma

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
Canis familiaris CDH20 VGNC VGNC:39029
Rattus norvegicus CDH20 RGD RGD:1305438
Bos taurus CDH20 VGNC VGNC:27099
Felis catus CDH20 VGNC VGNC:60679
Macaca mulatta CDH20 VGNC VGNC:70970
Mus musculus CDH20 MGD MGI:1346069