PCDH8 - protocadherin 8 Gene

Homo sapiens

Also known as PAPC; ARCADLIN

Gene ID: 5100 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

Cadherin_2

Cadherin

0
200
400
600
800
1000
1070 a.a.

Protein Preferred Names

Protein Names

protocadherin-8

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10131	PCDH8 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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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