1. Gene
  2. CDH7 - cadherin 7 Gene

CDH7 - cadherin 7 Gene

中文名称:钙粘蛋白 7

种属: Homo sapiens

同用名: CDH7L1

基因 ID: 1005 | 基因类型: protein coding

关于 CDH7

Cytogenetic location: 18q22.1 Genomic coordinates (GRCh38): 18:65,750,252-65,890,337 (from NCBI)

This gene has 4 transcripts (splice variants), 263 orthologues and 33 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码钙粘蛋白超家族的 II 型经典钙粘蛋白。可变剪接导致多个转录本变体,其中至少一个编码前原蛋白,该前原蛋白经过蛋白水解处理以产生成熟的糖蛋白。这种钙依赖性细胞粘附分子由五个细胞外钙粘蛋白重复序列、一个跨膜区域和一个高度保守的细胞质尾部组成。 II 型 (非典型) 钙粘蛋白是根据它们缺乏 I 型钙粘蛋白特有的组氨酸-丙氨酸-缬氨酸 (HAV) 细胞粘附识别序列来定义的。钙粘蛋白以嗜同性方式介导细胞-细胞结合,有助于异质细胞类型的分类。该基因的突变可能与人类患者的双相情感障碍有关。该基因存在于 18 号染色体上的基因簇中。[RefSeq 提供,2016 年 5 月]

This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is 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 histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I Cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, May 2016]

CDH7 基因产物(4)

mRNA Protein Name
NM_001317214.3 NP_001304143.1 cadherin-7 isoform 2 precursor
NM_001362438.2 NP_001349367.1 cadherin-7 isoform 1 preproprotein
NM_004361.5 NP_004352.2 cadherin-7 isoform 1 preproprotein
NM_033646.4 NP_387450.1 cadherin-7 isoform 1 preproprotein

CDH7 蛋白结构

Cadherin

Cadherin: Cadherin domain (62 - 143)

Cadherin

Cadherin: Cadherin domain (158 - 252)

Cadherin

Cadherin: Cadherin domain (267 - 368)

Cadherin

Cadherin: Cadherin domain (382 - 473)

Cadherin

Cadherin: Cadherin domain (486 - 583)

Cadherin_C

Cadherin_C: Cadherin cytoplasmic region (631 - 778)

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

cadherin-7

cadherin 7, 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

Waardenburg Syndrome, Type 2d

Waardenburg Syndrome Type 2d

WS2D

Waardenburg Syndrome, Type Iid

Waardenburg Syndrome Type Iid

Waardenburg Syndrome 2d

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
Mus musculus CDH7 MGD MGI:2442792
Bos taurus CDH7 VGNC VGNC:27106
Rattus norvegicus CDH7 RGD RGD:1306856
Felis catus CDH7 VGNC VGNC:60686
Canis familiaris CDH7 VGNC VGNC:39034
Macaca mulatta CDH7 VGNC VGNC:70975
Others CDH7 NCBI