1. Gene
  2. PCDH20 - protocadherin 20 Gene

PCDH20 - protocadherin 20 Gene

中文名称:原钙粘蛋白 20

种属: Homo sapiens

同用名: PCDH13

基因 ID: 64881 | 基因类型: protein coding

关于 PCDH20

Cytogenetic location: 13q21.2 Genomic coordinates (GRCh38): 13:61,409,685-61,415,849 (from NCBI)

This gene has 1 transcript (splice variant), 205 orthologues and 33 paralogues. Broad expression in brain (RPKM 4.5), lung (RPKM 1.5) and 14 other tissues.

功能概要

该基因属于原钙粘蛋白基因家族,是钙粘蛋白超家族的一个亚家族。该基因编码的蛋白质包含 6 个细胞外钙粘蛋白结构域、一个跨膜结构域和一个不同于经典钙粘蛋白的细胞质尾部。虽然其具体功能尚未确定,但钙粘蛋白相关神经元受体被认为在大脑中特定细胞间连接的建立和功能中发挥作用。[RefSeq 提供,2008 年 7 月]

This gene belongs to the protocadherin gene family, a subfamily of the Cadherin superfamily. This gene encodes a protein which contains 6 extracellular Cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical Cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]

PCDH20 基因产物(1)

mRNA Protein Name
NM_022843.4 NP_073754.2 protocadherin-20 precursor

PCDH20 蛋白结构

Cadherin

Cadherin: Cadherin domain (216 - 310)

Cadherin

Cadherin: Cadherin domain (326 - 401)

Cadherin

Cadherin: Cadherin domain (542 - 630)

Cadherin

Cadherin: Cadherin domain (644 - 732)

Cadherin

Cadherin: Cadherin domain (756 - 843)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 951 a.a.
蛋白主名 其他名称

protocadherin-20

protocadherin 13

关联疾病

疾病名称 别名
Trichorhinophalangeal Syndrome, Type I

Trichorhinophalangeal Dysplasia Type I

TRPS1

Trichorhinophalangeal Syndrome Type I

Trps I

Trichorhinophalangeal Syndrome Type 1

Type I Trichorhinophalangeal Syndrome

Giedion Syndrome

Trp Syndrome

Tricho-Rhino-Phalangeal Syndrome 1

Trichorhinophalangeal Syndrome, Type Iii

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 PCDH20 RGD RGD:1306297
Canis familiaris PCDH20 VGNC VGNC:57452
Mus musculus PCDH20 MGD MGI:2443376
Felis catus PCDH20 VGNC VGNC:102282