1. Gene
  2. CDH18 - cadherin 18 Gene

CDH18 - cadherin 18 Gene

中文名称:钙粘蛋白 18

种属: Homo sapiens

同用名: CDH14; CDH24; CDH14L

基因 ID: 1016 | 基因类型: protein coding

关于 CDH18

Cytogenetic location: 5p14.3 Genomic coordinates (GRCh38): 5:19,471,296-20,575,713 (from NCBI)

This gene has 12 transcripts (splice variants), 256 orthologues and 33 paralogues. Biased expression in brain (RPKM 4.0), adrenal (RPKM 1.3) and 1 other tissue.

功能概要

该基因编码一种 II 型经典钙粘蛋白,来自整合膜蛋白的钙粘蛋白超家族,介导钙依赖性细胞间粘附。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。 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中枢神经系统中特异表达,并被推定参与突触粘附、轴突生长和引导。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2014 年 5 月]

This gene encodes a type II classical cadherin from the cadherin superfamily of 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. 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 specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

CDH18 基因产物(11)

mRNA Protein Name
NM_001167667.3 NP_001161139.1 cadherin-18 isoform 2 precursor
NM_001291956.3 NP_001278885.1 cadherin-18 isoform 1 preproprotein
NM_001291957.2 NP_001278886.1 cadherin-18 isoform 3 precursor
NM_001349556.2 NP_001336485.1 cadherin-18 isoform 1 preproprotein
NM_001349558.2 NP_001336487.1 cadherin-18 isoform 1 preproprotein
NM_001349559.2 NP_001336488.1 cadherin-18 isoform 1 preproprotein
NM_001349560.2 NP_001336489.1 cadherin-18 isoform 3 precursor
NM_001349561.2 NP_001336490.1 cadherin-18 isoform 2 precursor
NM_001349562.2 NP_001336491.1 cadherin-18 isoform 4
NM_001349563.2 NP_001336492.1 cadherin-18 isoform 4
NM_004934.5 NP_004925.1 cadherin-18 isoform 1 preproprotein

CDH18 蛋白结构

Cadherin

Cadherin: Cadherin domain (64 - 150)

Cadherin

Cadherin: Cadherin domain (164 - 258)

Cadherin

Cadherin: Cadherin domain (273 - 352)

Cadherin

Cadherin: Cadherin domain (388 - 479)

Cadherin

Cadherin: Cadherin domain (492 - 589)

Cadherin_C

Cadherin_C: Cadherin cytoplasmic region (640 - 783)

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

cadherin-18

cadherin 18, 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

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

Epidural Abscess

Abscess Epidural

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 CDH18 VGNC VGNC:39026
Rattus norvegicus CDH18 RGD RGD:1305430
Macaca mulatta CDH18 VGNC VGNC:70811
Mus musculus CDH18 MGD MGI:1344366
Bos taurus CDH18 VGNC VGNC:27097
Felis catus CDH18 VGNC VGNC:60676
Others CDH18 NCBI