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Aliases for PCDH7 Gene

Aliases for PCDH7 Gene

  • Protocadherin 7 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 120 2 3
  • BH-Protocadherin (Brain-Heart) 2 3
  • Brain-Heart Protocadherin 3 4
  • BH-Pcdh 3 4
  • BHPCDH 3 4
  • Protocadherin-7 3
  • 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 Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH1.

Gene Wiki entry for PCDH7 Gene

Additional gene information for PCDH7 Gene

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

Genomics for PCDH7 Gene

GeneHancer (GH) Regulatory Elements for PCDH7 Gene

Promoters and enhancers for PCDH7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I030716 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554.3 -0.5 -531 7.2 PKNOX1 SIN3A FEZF1 ZNF2 ETS1 GLIS2 ZNF213 ZNF143 SP3 MAFF PCDH7 ENSG00000249678 GC04P030681 GC04M030717
GH04I030755 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.5 +36.6 36647 3.6 JUN ZNF664 ZFHX2 PRDM10 NFE2 FOS MAFK NFE2L2 TCF7L2 STAT1 PCDH7 ENSG00000249678 GC04M030717 GC04P030728
GH04I030752 Enhancer 0.7 ENCODE dbSUPER 12.6 +33.1 33142 2.7 OSR2 ZSCAN21 JUND JUN FOS EP300 PRDM1 PCDH7 ENSG00000249678 GC04P030728 GC04M030717
GH04I030743 Enhancer 0.5 dbSUPER 12.6 +24.9 24866 3.9 ZSCAN21 POLR2A ZSCAN4 FEZF1 ZNF843 PCDH7 GC04P030728 GC04M030717
GH04I030949 Enhancer 1.1 ENCODE dbSUPER 4.9 +231.3 231349 3.9 PKNOX1 ZSCAN4 INSM2 KLF17 MZF1 ZNF76 FEZF1 RFX5 GLIS2 ZNF213 PCDH7 MTCYBP43 GC04P031150
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCDH7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCDH7 gene promoter:

Genomic Locations for PCDH7 Gene

Genomic Locations for PCDH7 Gene
chr4:30,720,319-31,146,805
(GRCh38/hg38)
Size:
426,487 bases
Orientation:
Plus strand
chr4:30,722,030-31,148,423
(GRCh37/hg19)

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

Post-translational modifications for PCDH7 Gene

  • Glycosylation at isoforms=279, Asn689, Asn747, isoforms=2780, Asn822, Asn840, and isoforms=2845

No data available for DME Specific Peptides for PCDH7 Gene

Domains & Families for PCDH7 Gene

Gene Families for PCDH7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

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

No data available for UniProtKB/Swiss-Prot for PCDH7 Gene

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

Phenotypes From GWAS Catalog for PCDH7 Gene

Gene Ontology (GO) - Molecular Function for PCDH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDH7: view
genes like me logo Genes that share phenotypes with PCDH7: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCDH7 gene
Compartment Confidence
plasma membrane 5
extracellular 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCDH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane TAS 9615233
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031092 platelet alpha granule membrane TAS --
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

Gene Ontology (GO) - Biological Process for PCDH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
genes like me logo Genes that share ontologies with PCDH7: view

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PCDH7 Gene



NURSA nuclear receptor signaling pathways regulating expression of PCDH7 Gene:

PCDH7

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.

Evidence on tissue expression from TISSUES for PCDH7 Gene

  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with PCDH7: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia PCDH7 33 34
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia PCDH7 33 34
  • 93.48 (n)
dog
(Canis familiaris)
Mammalia PCDH7 33 34
  • 93.08 (n)
oppossum
(Monodelphis domestica)
Mammalia PCDH7 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcdh7 33 16 34
  • 91.26 (n)
rat
(Rattus norvegicus)
Mammalia Pcdh7 33
  • 91.13 (n)
chicken
(Gallus gallus)
Aves PCDH7 33 34
  • 81.83 (n)
lizard
(Anolis carolinensis)
Reptilia PCDH7 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcdh7 33
  • 77.91 (n)
Str.18049 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.315 33
zebrafish
(Danio rerio)
Actinopterygii pcdh7b 33 34
  • 73.48 (n)
Species where no ortholog for PCDH7 was found in the sources mined by GeneCards:
  • 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

Variants for PCDH7 Gene

Sequence variations from dbSNP and Humsavar for PCDH7 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000003254 -- 30,894,213(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000017263 -- 30,964,168(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000026359 -- 30,796,124(+) T/A genic_downstream_transcript_variant, intron_variant
rs1000028860 -- 30,756,868(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000035567 -- 30,967,254(+) G/A genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv1008795 CNV loss 20482838
esv2481294 CNV deletion 19546169
esv2666155 CNV deletion 23128226
esv2668857 CNV deletion 23128226
esv2727341 CNV deletion 23290073
esv2727342 CNV deletion 23290073
esv2727343 CNV deletion 23290073
esv3306342 CNV mobile element insertion 20981092
esv3338261 CNV insertion 20981092
esv3439388 CNV insertion 20981092
esv3563635 CNV deletion 23714750
esv3563636 CNV deletion 23714750
esv3569340 CNV loss 25503493
esv3575684 CNV gain 25503493
esv3600075 CNV loss 21293372
esv3600076 CNV loss 21293372
esv3600080 CNV loss 21293372
esv3600081 CNV loss 21293372
esv3893906 CNV loss 25118596
nsv1007884 CNV gain 25217958
nsv1123763 CNV deletion 24896259
nsv1136830 CNV deletion 24896259
nsv289500 CNV deletion 16902084
nsv289917 CNV insertion 16902084
nsv4285 CNV deletion 18451855
nsv4286 CNV insertion 18451855
nsv4288 CNV insertion 18451855
nsv461316 CNV gain 19166990
nsv499039 CNV loss 21111241
nsv593899 CNV gain 21841781
nsv822516 CNV loss 20364138
nsv966258 CNV duplication 23825009
nsv967736 CNV duplication 23825009

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)

Additional Variant Information for PCDH7 Gene

Human Gene Mutation Database (HGMD)
PCDH7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDH7

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

Disorders for PCDH7 Gene

Additional Disease Information for PCDH7

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

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 22 58
  2. A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol. (PMID: 22028671) Surakka I … ENGAGE Consortium (PLoS genetics 2011) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Genome-wide analysis of survival in early-stage non-small-cell lung cancer. (PMID: 19414679) Huang YT … Christiani DC (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009) 3 44 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for PCDH7 Gene

Sources for PCDH7 Gene

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