1. Gene
  2. PCDH7 - protocadherin 7 Gene

PCDH7 - protocadherin 7 Gene

Homo sapiens

Also known as BHPCDH; BH-Pcdh; PPP1R120

Gene ID: 5099 | Gene type: protein coding

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) ≥95%

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