2. Gene
  3. PCDH8 - protocadherin 8 Gene

PCDH8 - protocadherin 8 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：原钙粘蛋白 8

种属: Homo sapiens

同用名: PAPC; ARCADLIN

基因 ID: 5100 | 基因类型: protein coding

关于 PCDH8

Cytogenetic location: 13q14.3 Genomic coordinates (GRCh38): 13:52,842,889-52,848,640 (from NCBI)

This gene has 3 transcripts (splice variants), 280 orthologues and 61 paralogues. Biased expression in brain (RPKM 2.9), testis (RPKM 0.5) and 2 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。该基因编码一种完整的膜蛋白，该蛋白被认为以 CNS 特异性方式在细胞粘附中发挥作用。与通常由 15-17 个外显子编码的经典钙粘蛋白不同，该基因仅包含 3 个外显子。值得注意的是编码细胞外区域的第一个大外显子，包括 6 个钙粘蛋白结构域和一个跨膜区域。选择性剪接产生具有独特细胞质尾巴的亚型。[RefSeq 提供，2008 年 7 月]

This gene belongs to the protocadherin gene family, a subfamily of the Cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical Cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 Cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]

PCDH8 基因产物(2)

mRNA Protein Name
NM_002590.4 NP_002581.2 protocadherin-8 isoform 1 precursor
NM_032949.3 NP_116567.1 protocadherin-8 isoform 2 precursor

PCDH8 蛋白结构

Cadherin_2

Cadherin_2: Cadherin-like (31 - 109)

Cadherin

Cadherin: Cadherin domain (142 - 236)

Cadherin

Cadherin: Cadherin domain (253 - 344)

Cadherin

Cadherin: Cadherin domain (401 - 487)

Cadherin

Cadherin: Cadherin domain (502 - 600)

Cadherin

Cadherin: Cadherin domain (623 - 710)

  • 0
  • 200
  • 400
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  • 1000
  • 1070 a.a.
蛋白主名 其他名称

protocadherin-8

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 9

Efmr

Epileptic Encephalopathy, Early Infantile, 9

Eiee9

DEE9

Juberg-Hellman Syndrome

Epilepsy, Female-Restricted, With Mental Retardation

Developmental And Epileptic Encephalopathy, 9

Early Infantile Epileptic Encephalopathy 9

Early Infantile Female-Limited Epilecptic Encephalopathy

Female Restricted Epilepsy With Mental Retardation

Juberg Hellman Syndrome

Pcdh19-Related Female-Limited Epilepsy

Epilepsy And Intellectual Disability Limited To Females

Epilepsy, Female Restricted, With Intellectual Disability

Familial Epilepsy And Intellectual Disability Limited To Females

Female Restricted Epilepsy With Intellectual Delays

Pcdh19-Related Fle

Pcdh19-Related Infantile Epileptic Encephalopathy

Female Restricted Epilepsy With Intellectual Disability

Encephalopathy, Epileptic, Early Infantile, Type 9
Pyelitis
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10131 PCDH8 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PCDH8 RGD RGD:69350
Bos taurus PCDH8 VGNC VGNC:32622
Mus musculus PCDH8 MGD MGI:1306800
Macaca mulatta PCDH8 VGNC VGNC:106282
Felis catus PCDH8 VGNC VGNC:102283
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