PCDH17 - protocadherin 17 Gene

Homo sapiens

Also known as PCH68; PCDH68

Gene ID: 27253 | Gene type: protein coding

About PCDH17

Cytogenetic location: 13q21.1 Genomic coordinates (GRCh38): 13:57,630,108-57,729,311 (from NCBI)

This gene has 4 transcripts (splice variants), 270 orthologues and 61 paralogues. Broad expression in spleen (RPKM 10.8), brain (RPKM 7.3) and 14 other tissues.

Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical Cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]

PCDH17 Products(1)

mRNA	Protein	Name
NM_001040429.3	NP_001035519.1	protocadherin-17 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19945174	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCDH17 Protein Structure

Cadherin_2

Cadherin

0
200
400
600
800
1000
1159 a.a.

Protein Preferred Names

Protein Names

protocadherin-17

protocadherin 68

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

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-RS10126	PCDH17 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PCDH17	RGD	RGD:1304753
Bos taurus	PCDH17	VGNC	VGNC:32618
Canis familiaris	PCDH17	VGNC	VGNC:57451
Felis catus	PCDH17	VGNC	VGNC:64060
Macaca mulatta	PCDH17	VGNC	VGNC:75599
Mus musculus	PCDH17	MGD	MGI:2684924

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