PCDH7 - protocadherin 7 Gene

Also Known as BHPCDH; BH-Pcdh; PPP1R120

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5099

About PCDH7

Cytogenetic location: 4p15.1 Genomic coordinates (GRCh38): 4:30,720,369-31,146,800 (from NCBI)

This gene has 13 transcripts (splice variants), 206 orthologues and 33 paralogues. Broad expression in brain (RPKM 10.8), spleen (RPKM 5.9) and 17 other tissues.

Summary

This gene belongs to the protocadherin gene family, a subfamily of the Cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 Cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]

PCDH7 Products (3)

mRNA Protein Name
NM_001173523.2 NP_001166994.1 protocadherin-7 isoform d precursor
NM_002589.4 NP_002580.2 protocadherin-7 isoform a precursor
NM_032457.4 NP_115833.2 protocadherin-7 isoform c precursor

PCDH7 Protein Structure

Cadherin_2

Cadherin_2: Cadherin-like (34 - 114)

Cadherin

Cadherin: Cadherin domain (255 - 298)

Cadherin

Cadherin: Cadherin domain (313 - 405)

Cadherin

Cadherin: Cadherin domain (430 - 525)

Cadherin

Cadherin: Cadherin domain (542 - 629)

Cadherin

Cadherin: Cadherin domain (644 - 731)

Cadherin

Cadherin: Cadherin domain (758 - 839)

Protocadherin

Protocadherin: Protocadherin (842 - 1055)

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  • 1069 a.a.
Protein Preferred Names Protein Names

protocadherin-7

  • BH-protocadherin (brain-heart)

Recombinant PCDH7 Proteins

Cat. No. Product Name Accession Purity
HY-P75956 PCDH7 Protein, Human (sf9, His) O60245-1/NP_002580.2 (A29-S879) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Astigmatism
Epilepsy, Myoclonic Juvenile
  • Juvenile Myoclonic Epilepsy

  • Janz Syndrome

  • Jme

  • Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

  • EJM

  • Myoclonic Epilepsy, Juvenile

  • Petit Mal, Impulsive

  • Myoclonic Epilepsy, Juvenile 1

  • Myoclonic Epilepsy, Juvenile, 1

  • Adolescent Myoclonic Epilepsy

  • Juvenile Myoclonus Epilepsy

  • Juvenile Myoclonic Epilepsy 1

  • EJM1

  • Petit Mal Impulsive

  • Susceptibility To Juvenile Myoclonic Epilepsy 1

  • Myoclonic Epilepsy Juvenile

  • Epilepsy, Myoclonic, Juvenile

  • Myoclonic Epilepsy Of Janz

  • Jme - [Juvenile Myoclonic Epilepsy]

Benign Epilepsy With Centrotemporal Spikes
  • Rolandic Epilepsy

  • Benign Rolandic Epilepsy

  • Epilepsy, Rolandic

  • Bcects

  • Benign Childhood Epilepsy With Centrotemporal Spike

  • Sylvan Seizures

  • Becrs

  • Bects

  • Bre

  • Benign Epilepsy Of Childhood With Centrotemporal Spikes

  • Benign Familial Epilepsy Of Childhood With Rolandic Spikes

  • Centrotemporal Epilepsy

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

Orthologs Information

Species Symbol Source ID
Canis familiaris PCDH7 VGNC VGNC:53195
Macaca mulatta PCDH7 VGNC VGNC:75777
Rattus norvegicus PCDH7 RGD RGD:1303209
Felis catus PCDH7 VGNC VGNC:68717
Mus musculus PCDH7 MGD MGI:1860487
Bos taurus PCDH7 VGNC VGNC:32621
Others PCDH7 NCBI