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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+. 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

Regulatory Elements for PCDH7 Gene

Enhancers for PCDH7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H030755 1.2 Ensembl ENCODE dbSUPER 11.5 +36.6 36648 3 JUN ZNF664 ZFHX2 FOS NFE2 PRDM10 MAFK NFE2L2 TCF7L2 STAT1 PCDH7 ENSG00000249678 GC04M030717 GC04P030728
GH04H030752 0.9 ENCODE dbSUPER 12.6 +33.1 33143 2 JUN EP300 ZSCAN21 OSR2 JUND FOS PRDM1 TRIM28 PCDH7 ENSG00000249678 GC04M030717 GC04P030728
GH04H030716 1.5 FANTOM5 ENCODE dbSUPER 4.3 -0.5 -531 7 PKNOX1 FEZF1 ZNF2 ETS1 GLIS2 ZNF143 SP3 MAFF ZSCAN16 GLIS1 ENSG00000249678 PCDH7 GC04P030681
GH04H030743 0.5 dbSUPER 12.6 +24.9 24866 3 ZSCAN21 POLR2A ZSCAN4 FEZF1 ZNF843 PCDH7 GC04P030728 GC04M030717
GH04H030949 1.2 ENCODE dbSUPER 4.9 +231.4 231350 3 PKNOX1 ZSCAN4 INSM2 ZNF76 KLF17 FEZF1 RFX5 GLIS2 ZNF366 ZSCAN5C PCDH7 MTCYBP43 GC04P031150
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCDH7 on UCSC Golden Path with GeneCards custom track

Promoters for PCDH7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000167180 -1118 6000 PKNOX1 FEZF1 ZNF2 GLIS2 ZNF143 SP3 REST MAFF ZSCAN16 GLIS1

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

Post-translational modifications for PCDH7 Gene

  • Glycosylation at posLast=7979, posLast=689689, posLast=747747, Asn780, Asn822, Asn840, and posLast=845845
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for PCDH7
  • Santa Cruz Biotechnology (SCBT) Antibodies for PCDH7

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

Animal Model Products

CRISPR Products

Inhibitory RNA 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:

CRISPR Products

Inhibitory RNA 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

Primer Products

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

(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
rs1000003254 -- 30,894,213(+) CTTTG(A/G)ATTCT intron-variant
rs1000017263 -- 30,964,168(+) AGCTT(C/T)AGTTT intron-variant
rs1000026359 -- 30,796,124(+) GCTGC(A/T)GCTAC intron-variant
rs1000028860 -- 30,756,868(+) TCTCT(A/G)GCCTA intron-variant
rs1000035567 -- 30,967,254(+) CGTTT(A/G)GTTAT 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)

Relevant External Links 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

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 22 60
  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 45 60
  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 45 60
  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 45 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for PCDH7 Gene

Sources for PCDH7 Gene

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