1. Gene
  2. CDH19 - cadherin 19 Gene

CDH19 - cadherin 19 Gene

中文名称:钙粘蛋白 19

种属: Homo sapiens

同用名: CDH7; CDH7L2

基因 ID: 28513 | 基因类型: protein coding

关于 CDH19

Cytogenetic location: 18q22.1 Genomic coordinates (GRCh38): 18:66,501,083-66,604,090 (from NCBI)

This gene has 5 transcripts (splice variants), 125 orthologues and 33 paralogues. Broad expression in heart (RPKM 5.1), adrenal (RPKM 2.5) and 19 other tissues.

功能概要

该基因是位于 18 号染色体簇中的三个相关 II 型钙粘蛋白基因之一。编码的蛋白质是一种钙依赖性细胞粘附糖蛋白,包含五个细胞外钙粘蛋白重复序列。钙粘蛋白的丢失可能与癌症形成有关。可变剪接导致该基因的多个转录变体。[RefSeq 提供,2012 年 8 月]

This gene is one of three related type II Cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular Cadherin repeats. Loss of Cadherins may be associated with Cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012]

CDH19 基因产物(2)

mRNA Protein Name
NM_001271028.2 NP_001257957.1 cadherin-19 isoform 2 preproprotein
NM_021153.4 NP_066976.1 cadherin-19 isoform 1 preproprotein

CDH19 蛋白结构

Cadherin

Cadherin: Cadherin domain (49 - 137)

Cadherin

Cadherin: Cadherin domain (153 - 246)

Cadherin

Cadherin: Cadherin domain (261 - 355)

Cadherin

Cadherin: Cadherin domain (375 - 460)

Cadherin

Cadherin: Cadherin domain (474 - 571)

Cadherin_C

Cadherin_C: Cadherin cytoplasmic region (621 - 766)

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

cadherin-19

cadherin 19, type 2

重组 CDH19 蛋白

目录号 产品名 蛋白编号 纯度
HY-P700973 CDH19 Protein, Human (Flag-MBP) Q9H159-1 (G44-H569) ≥95%

关联疾病

疾病名称 别名
Achilles Bursitis

Achilles Bursitis Or Tendinitis

Capped Hock

Haglund'S Deformity

Haglund'S Disease

Osteochondritis Of The Talus

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
Felis catus CDH19 VGNC VGNC:60677
Rattus norvegicus CDH19 RGD RGD:1307169
Mus musculus CDH19 MGD MGI:3588198
Canis familiaris CDH19 VGNC VGNC:39027
Macaca mulatta CDH19 VGNC VGNC:70812
Others CDH19 NCBI