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Aliases for PCDH7 Gene

Aliases for PCDH7 Gene

  • Protocadherin 7 2 3 5
  • BH-Protocadherin (Brain-Heart) 2 3
  • Brain-Heart Protocadherin 3 4
  • BH-Pcdh 3 4
  • BHPCDH 3 4
  • Protein Phosphatase 1, Regulatory Subunit 120 3
  • Regulatory Subunit 120 2
  • Protein Phosphatase 1 2
  • PPP1R120 3

External Ids for PCDH7 Gene

Previous GeneCards Identifiers for PCDH7 Gene

  • GC04P030846
  • GC04P030410
  • GC04P030472
  • GC04P030398
  • GC04P030065

Summaries for PCDH7 Gene

Entrez Gene Summary for PCDH7 Gene

  • 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]

GeneCards Summary for PCDH7 Gene

PCDH7 (Protocadherin 7) is a Protein Coding gene. Among its related pathways are Platelet activation, signaling and aggregation. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH20.

Gene Wiki entry for PCDH7 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDH7 Gene

Genomics for PCDH7 Gene

Regulatory Elements for PCDH7 Gene

Enhancers for PCDH7 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PCDH7 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCDH7 Gene

Chromosome:
4
Start:
30,720,319 bp from pter
End:
31,146,805 bp from pter
Size:
426,487 bases
Orientation:
Plus strand

Genomic View for PCDH7 Gene

Genes around PCDH7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDH7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDH7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDH7 Gene

Proteins for PCDH7 Gene

  • Protein details for PCDH7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60245-PCDH7_HUMAN
    Recommended name:
    Protocadherin-7
    Protein Accession:
    O60245
    Secondary Accessions:
    • O60246
    • O60247
    • Q4W5C4

    Protein attributes for PCDH7 Gene

    Size:
    1069 amino acids
    Molecular mass:
    116071 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA25196.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PCDH7 Gene

    Alternative splice isoforms for PCDH7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDH7 Gene

Proteomics data for PCDH7 Gene at MOPED

Post-translational modifications for PCDH7 Gene

  • Glycosylation at Asn 79, Asn 689, Asn 747, Asn 780, Asn 822, Asn 840, and Asn 845
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDH7 Gene

No data available for DME Specific Peptides for PCDH7 Gene

Domains & Families for PCDH7 Gene

Protein Domains for PCDH7 Gene

Suggested Antigen Peptide Sequences for PCDH7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60245

UniProtKB/Swiss-Prot:

PCDH7_HUMAN :
  • Contains 7 cadherin domains.
Domain:
  • Contains 7 cadherin domains.
genes like me logo Genes that share domains with PCDH7: view

Function for PCDH7 Gene

Molecular function for PCDH7 Gene

GENATLAS Biochemistry:
BH-protocadherin 7,cadherin-related neuronal receptor,expressed predominantly in brain,localizing to synaptic junctions and putatively involved in specific neuronal connections and signal transduction,also expressed in cancer cell line and heart with three alternatively spliced forms a,b and c,cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
genes like me logo Genes that share phenotypes with PCDH7: view

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDH7 Gene

Localization for PCDH7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDH7 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCDH7 Gene COMPARTMENTS Subcellular localization image for PCDH7 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PCDH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCDH7: view

Pathways & Interactions for PCDH7 Gene

genes like me logo Genes that share pathways with PCDH7: view

Interacting Proteins for PCDH7 Gene

Gene Ontology (GO) - Biological Process for PCDH7 Gene

None

No data available for SIGNOR curated interactions for PCDH7 Gene

Drugs & Compounds for PCDH7 Gene

No Compound Related Data Available

Transcripts for PCDH7 Gene

Unigene Clusters for PCDH7 Gene

Protocadherin 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PCDH7 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c
SP1: -
SP2:
SP3: - -

Relevant External Links for PCDH7 Gene

GeneLoc Exon Structure for
PCDH7
ECgene alternative splicing isoforms for
PCDH7

Expression for PCDH7 Gene

mRNA expression in normal human tissues for PCDH7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCDH7 Gene

This gene is overexpressed in Artery - Aorta (x6.3).

Protein differential expression in normal tissues from HIPED for PCDH7 Gene

This gene is overexpressed in Bone (13.1), Frontal cortex (11.7), Heart (9.4), Pancreatic juice (8.9), and Fetal Brain (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PCDH7 Gene



SOURCE GeneReport for Unigene cluster for PCDH7 Gene Hs.479439

mRNA Expression by UniProt/SwissProt for PCDH7 Gene

O60245-PCDH7_HUMAN
Tissue specificity: Expressed predominantly in brain and heart and at lower levels in various other tissues.
genes like me logo Genes that share expression patterns with PCDH7: view

Primer Products

No data available for Protein tissue co-expression partners for PCDH7 Gene

Orthologs for PCDH7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDH7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PCDH7 35
  • 93.48 (n)
  • 97.92 (a)
PCDH7 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCDH7 35
  • 93.08 (n)
  • 97.19 (a)
PCDH7 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcdh7 35
  • 91.26 (n)
  • 97.85 (a)
Pcdh7 16
Pcdh7 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCDH7 35
  • 99.65 (n)
  • 99.76 (a)
PCDH7 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcdh7 35
  • 91.13 (n)
  • 97.75 (a)
oppossum
(Monodelphis domestica)
Mammalia PCDH7 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCDH7 35
  • 81.83 (n)
  • 89.67 (a)
PCDH7 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCDH7 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcdh7 35
  • 77.91 (n)
  • 86.88 (a)
Str.18049 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.315 35
zebrafish
(Danio rerio)
Actinopterygii pcdh7b 35
  • 73.48 (n)
  • 83.92 (a)
pcdh7b 36
  • 83 (a)
OneToOne
Species with no ortholog for PCDH7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCDH7 Gene

ENSEMBL:
Gene Tree for PCDH7 (if available)
TreeFam:
Gene Tree for PCDH7 (if available)

Paralogs for PCDH7 Gene

Paralogs for PCDH7 Gene

(17) SIMAP similar genes for PCDH7 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PCDH7: view

Variants for PCDH7 Gene

Sequence variations from dbSNP and Humsavar for PCDH7 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs2307 -- 31,073,200(+) GGGGA(A/T)TAGAT intron-variant
rs11567 -- 31,146,665(+) CATGG(C/T)GAAAT utr-variant-3-prime
rs977931 -- 30,724,365(+) TACAG(A/G)TCCGT reference, synonymous-codon
rs901458 -- 30,745,368(-) CACTA(G/T)ATAAA intron-variant
rs901459 -- 30,745,189(-) ACTCA(C/G)ATGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCDH7 Gene

Variant ID Type Subtype PubMed ID
nsv4285 CNV Loss 18451855
nsv4286 CNV Insertion 18451855
nsv499039 CNV Loss 21111241
nsv878810 CNV Loss 21882294
nsv4288 CNV Insertion 18451855
esv274068 CNV Insertion 20981092
esv269545 CNV Insertion 20981092
nsv289917 CNV Insertion 16902084
nsv461316 CNV Gain 19166990
esv2481294 CNV Deletion 19546169
nsv878811 CNV Loss 21882294
esv2727341 CNV Deletion 23290073
esv1008795 CNV Loss 20482838
nsv822516 CNV Loss 20364138
esv2668857 CNV Deletion 23128226
esv2666155 CNV Deletion 23128226
esv2727342 CNV Deletion 23290073
esv2727343 CNV Deletion 23290073
nsv289500 CNV Loss 16902084
esv270619 CNV Insertion 20981092

Variation tolerance for PCDH7 Gene

Residual Variation Intolerance Score: 2.49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCDH7 Gene

Human Gene Mutation Database (HGMD)
PCDH7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDH7 Gene

Disorders for PCDH7 Gene

Relevant External Links for PCDH7

Genetic Association Database (GAD)
PCDH7
Human Genome Epidemiology (HuGE) Navigator
PCDH7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDH7

No disorders were found for PCDH7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDH7 Gene

Publications for PCDH7 Gene

  1. Cloning, expression analysis, and chromosomal localization of BH- protocadherin (PCDH7), a novel member of the cadherin superfamily. (PMID: 9615233) Yoshida K. … Sugano S. (Genomics 1998) 2 3 4 23 67
  2. A genome-wide linkage and association study of musical aptitude identifies loci containing genes related to inner ear development and neurocognitive functions. (PMID: 24614497) Oikkonen J. … JAorvelAo I. (Mol. Psychiatry 2015) 3
  3. Genetic loci associated with circulating levels of very long-chain saturated fatty acids. (PMID: 25378659) Lemaitre R.N. … Friedlander Y. (J. Lipid Res. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for PCDH7 Gene

Sources for PCDH7 Gene

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