1. Gene
  2. PCDH18 - protocadherin 18 Gene

PCDH18 - protocadherin 18 Gene

中文名称:原钙粘蛋白 18

种属: Homo sapiens

同用名: PCDH68L

基因 ID: 54510 | 基因类型: protein coding

关于 PCDH18

Cytogenetic location: 4q28.3 Genomic coordinates (GRCh38): 4:137,518,918-137,532,494 (from NCBI)

This gene has 8 transcripts (splice variants), 274 orthologues and 61 paralogues. Broad expression in placenta (RPKM 18.1), endometrium (RPKM 17.7) and 21 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]

PCDH18 基因产物(2)

mRNA Protein Name
NM_001300828.2 NP_001287757.1 protocadherin-18 isoform 2 precursor
NM_019035.5 NP_061908.1 protocadherin-18 isoform 1 precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PCDH18 蛋白结构

Cadherin_2

Cadherin_2: Cadherin-like (29 - 111)

Cadherin

Cadherin: Cadherin domain (144 - 236)

Cadherin

Cadherin: Cadherin domain (252 - 344)

Cadherin

Cadherin: Cadherin domain (371 - 455)

Cadherin

Cadherin: Cadherin domain (470 - 566)

Cadherin

Cadherin: Cadherin domain (588 - 672)

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  • 1135 a.a.
蛋白主名 其他名称

protocadherin-18

protocadherin 68-like protein

PCDH18 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
PCDH18 Q9HCL0 UBQLN1 Homo sapiens Q9UMX0 32296183
种属内
PCDH18 Q9HCL0 UBQLN1 Homo sapiens Q9UMX0 32296183
种属内
PCDH18 Q9HCL0 UBQLN1 Homo sapiens Q9UMX0 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd

Osasd

Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect

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 PCDH18 RGD RGD:1305870
Bos taurus PCDH18 VGNC VGNC:32619
Canis familiaris PCDH18 VGNC VGNC:44296
Macaca mulatta PCDH18 VGNC VGNC:75600
Mus musculus PCDH18 MGD MGI:1920423
Felis catus PCDH18 VGNC VGNC:64061