PCDH17 - protocadherin 17 Gene

Also Known as PCH68; PCDH68

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27253

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 Références 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_2: Cadherin-like (20 - 111)

Cadherin

Cadherin: Cadherin domain (138 - 233)

Cadherin

Cadherin: Cadherin domain (248 - 341)

Cadherin

Cadherin: Cadherin domain (358 - 463)

Cadherin

Cadherin: Cadherin domain (477 - 574)

Cadherin

Cadherin: Cadherin domain (596 - 681)

  • 0
  • 200
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  • 1000
  • 1159 a.a.
Protein Preferred Names Protein Names

protocadherin-17

  • protocadherin 68

PCDH17 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
PCDH17 O14917 YAF2 Homo sapiens Q8IY57-5
Y2H Array
32296183
Intra
PCDH17 O14917 YAF2 Homo sapiens Q8IY57-5
Y2H Prey Pooling
32296183
Intra
PCDH17 O14917 YAF2 Homo sapiens Q8IY57-5
Validated Y2H
32296183
Intra
PCDH17 O14917 TSC22D4 Homo sapiens Q9Y3Q8
Y2H Prey Pooling
32296183
Intra
PCDH17 O14917 TSC22D4 Homo sapiens Q9Y3Q8
Validated Y2H
32296183
Intra
PCDH17 O14917 TSC22D4 Homo sapiens Q9Y3Q8
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS10126 PCDH17 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21902 Pcdh17 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28419 Pcdh17 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others PCDH17 NCBI