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PCDH7 protocadherin 7 [ Homo sapiens (human) ]

Gene ID: 5099, updated on 18-Jul-2021

Summary

Official Symbol
PCDH7provided by HGNC
Official Full Name
protocadherin 7provided by HGNC
Primary source
HGNC:HGNC:8659
See related
Ensembl:ENSG00000169851 MIM:602988
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BHPCDH; BH-Pcdh; PPP1R120
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]
Expression
Broad expression in brain (RPKM 10.8), spleen (RPKM 5.9) and 17 other tissues See more
Orthologs
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Genomic context

See PCDH7 in Genome Data Viewer
Location:
4p15.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (30719861..31146800)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (30721991..31148422)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene cathepsin B pseudogene Neighboring gene RPS3A pseudogene 17 Neighboring gene MT-CYB pseudogene 43 Neighboring gene long intergenic non-protein coding RNA 2497 Neighboring gene uncharacterized LOC105374564

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol.
GeneReviews: Not available
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
GeneReviews: Not available
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
GeneReviews: Not available
Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
GeneReviews: Not available
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ97161

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in platelet alpha granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
protocadherin-7
Names
BH-protocadherin (brain-heart)
brain-heart protocadherin
protein phosphatase 1, regulatory subunit 120

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001173523.2NP_001166994.1  protocadherin-7 isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) represents the longest transcript and encodes the longest isoform (d).
    Source sequence(s)
    AC098595, AC107394, AC110766
    Conserved Domains (2) summary
    cd11304
    Location:541635
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam08374
    Location:8421053
    Protocadherin; Protocadherin
  2. NM_002589.4NP_002580.2  protocadherin-7 isoform a precursor

    See identical proteins and their annotated locations for NP_002580.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) uses an alternate splice pattern in the 3' CDS and 3' UTR, compared to variant d. The resulting isoform (a) has a shorter and distinct C-terminus, compared to isoform d.
    Source sequence(s)
    AC098595
    Consensus CDS
    CCDS33971.1
    UniProtKB/Swiss-Prot
    O60245
    Related
    ENSP00000355243.2, ENST00000361762.3
    Conserved Domains (2) summary
    cd11304
    Location:541635
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam08374
    Location:8421053
    Protocadherin; Protocadherin
  3. NM_032457.4NP_115833.2  protocadherin-7 isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) uses an alternate in-frame splice site in the 3' coding region, compared to variant d. The resulting isoform (c) lacks an internal segment near the C-terminus, compared to isoform d.
    Source sequence(s)
    AC098595, AC107394, AC110766
    Conserved Domains (2) summary
    cd11304
    Location:541635
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam08374
    Location:8421053
    Protocadherin; Protocadherin

RNA

  1. NR_172626.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC098595

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    30719861..31146800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513842.3XP_011512144.1  protocadherin-7 isoform X1

    Conserved Domains (2) summary
    cd11304
    Location:541635
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam08374
    Location:8421053
    Protocadherin; Protocadherin
  2. XM_017008261.2XP_016863750.1  protocadherin-7 isoform X4

  3. XM_017008260.2XP_016863749.1  protocadherin-7 isoform X3

  4. XM_005248163.4XP_005248220.1  protocadherin-7 isoform X7

    Conserved Domains (2) summary
    cd11304
    Location:541635
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam08374
    Location:8421053
    Protocadherin; Protocadherin
  5. XM_017008259.2XP_016863748.1  protocadherin-7 isoform X2

  6. XM_017008262.2XP_016863751.1  protocadherin-7 isoform X5

  7. XM_005248164.4XP_005248221.1  protocadherin-7 isoform X8

    Conserved Domains (2) summary
    cd11304
    Location:541635
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam08374
    Location:8421053
    Protocadherin; Protocadherin
  8. XM_011513843.3XP_011512145.1  protocadherin-7 isoform X6

    Conserved Domains (2) summary
    cd11304
    Location:541635
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam08374
    Location:8421053
    Protocadherin; Protocadherin
  9. XM_005248166.4XP_005248223.1  protocadherin-7 isoform X18

    Conserved Domains (2) summary
    cd11304
    Location:541635
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam08374
    Location:8421053
    Protocadherin; Protocadherin
  10. XM_011513844.3XP_011512146.1  protocadherin-7 isoform X15

    Conserved Domains (2) summary
    cd11304
    Location:541635
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam08374
    Location:8421053
    Protocadherin; Protocadherin
  11. XM_017008272.2XP_016863761.1  protocadherin-7 isoform X17

  12. XM_017008264.2XP_016863753.1  protocadherin-7 isoform X9

  13. XM_017008263.2XP_016863752.1  protocadherin-7 isoform X9

  14. XM_017008266.2XP_016863755.1  protocadherin-7 isoform X11

  15. XM_017008265.2XP_016863754.1  protocadherin-7 isoform X10

  16. XM_017008268.2XP_016863757.1  protocadherin-7 isoform X13

  17. XM_017008271.2XP_016863760.1  protocadherin-7 isoform X16

    Conserved Domains (2) summary
    cd11304
    Location:541635
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam08374
    Location:8421053
    Protocadherin; Protocadherin
  18. XM_017008267.2XP_016863756.1  protocadherin-7 isoform X12

  19. XM_017008269.2XP_016863758.1  protocadherin-7 isoform X14

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032456.4: Suppressed sequence

    Description
    NM_032456.4: This RefSeq was removed because currently there is support for the transcript but not for the protein.
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