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Aliases for PCDH17 Gene

Aliases for PCDH17 Gene

  • Protocadherin 17 2 3 5
  • PCDH68 3 4
  • PCH68 3 4
  • Protocadherin 68 3
  • Protocadherin-17 3
  • Protocadherin-68 4

External Ids for PCDH17 Gene

Previous GeneCards Identifiers for PCDH17 Gene

  • GC13P056173
  • GC13P052200
  • GC13P057142
  • GC13P056003
  • GC13P057103
  • GC13P058205
  • GC13P038887

Summaries for PCDH17 Gene

Entrez Gene Summary for PCDH17 Gene

  • This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCDH17 Gene

PCDH17 (Protocadherin 17) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH19.

UniProtKB/Swiss-Prot for PCDH17 Gene

  • Potential calcium-dependent cell-adhesion protein.

Gene Wiki entry for PCDH17 Gene

Additional gene information for PCDH17 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDH17 Gene

Genomics for PCDH17 Gene

GeneHancer (GH) Regulatory Elements for PCDH17 Gene

Promoters and enhancers for PCDH17 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J057629 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.6 1602 4.5 CTCF MXI1 PKNOX1 TAF1 SUZ12 ZSCAN4 SIN3A ZNF384 RAD21 ZFHX2 ENSG00000278722 PCDH17
GH13J058050 Enhancer 0.3 ENCODE 13.8 +421.4 421428 1.6 NANOG PCDH17 GC13P058012 LINC02338
GH13J057865 Enhancer 0.5 ENCODE 6.4 +235.6 235631 1 FOSL1 MEIS2 PKNOX1 POLR2A TAL1 SETDB1 PCDH17 GC13P057869 GC13P057773
GH13J057672 Enhancer 0.3 ENCODE 4.9 +43.1 43065 0.7 REST GC13M057672 PCDH17 ENSG00000278722
GH13J057643 Enhancer 0.2 dbSUPER 5.1 +14.2 14192 2 PCDH17 ENSG00000278722 GC13M057672
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCDH17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCDH17 gene promoter:
  • Msx-1
  • Pbx1a
  • Nkx2-2
  • C/EBPalpha
  • Pax-5
  • AP-1
  • AML1a
  • Pax-3
  • MIF-1

Genomic Locations for PCDH17 Gene

Genomic Locations for PCDH17 Gene
99,208 bases
Plus strand
97,657 bases
Plus strand

Genomic View for PCDH17 Gene

Genes around PCDH17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDH17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDH17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDH17 Gene

Proteins for PCDH17 Gene

  • Protein details for PCDH17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A8K1R5
    • Q5VVW9
    • Q5VVX0

    Protein attributes for PCDH17 Gene

    1159 amino acids
    Molecular mass:
    126229 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCDH17 Gene


neXtProt entry for PCDH17 Gene

Post-translational modifications for PCDH17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PCDH17 Gene

No data available for DME Specific Peptides for PCDH17 Gene

Domains & Families for PCDH17 Gene

Gene Families for PCDH17 Gene

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

Protein Domains for PCDH17 Gene

Suggested Antigen Peptide Sequences for PCDH17 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCDH17: view

No data available for UniProtKB/Swiss-Prot for PCDH17 Gene

Function for PCDH17 Gene

Molecular function for PCDH17 Gene

UniProtKB/Swiss-Prot Function:
Potential calcium-dependent cell-adhesion protein.

Phenotypes From GWAS Catalog for PCDH17 Gene

Gene Ontology (GO) - Molecular Function for PCDH17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 19945174
genes like me logo Genes that share ontologies with PCDH17: view
genes like me logo Genes that share phenotypes with PCDH17: view

Animal Models for PCDH17 Gene

MGI Knock Outs for PCDH17:

Animal Model Products

  • Taconic Biosciences Mouse Models for PCDH17

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCDH17 Gene

Localization for PCDH17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDH17 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

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 PCDH17 gene
Compartment Confidence
plasma membrane 5
peroxisome 2
cytosol 2
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCDH17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCDH17: view

Pathways & Interactions for PCDH17 Gene

SuperPathways for PCDH17 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCDH17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IBA,IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007267 cell-cell signaling IBA --
GO:0007416 synapse assembly IBA --
GO:0030534 adult behavior IEA --
genes like me logo Genes that share ontologies with PCDH17: view

No data available for Pathways by source and SIGNOR curated interactions for PCDH17 Gene

Drugs & Compounds for PCDH17 Gene

(1) Drugs for PCDH17 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with PCDH17: view

Transcripts for PCDH17 Gene

Unigene Clusters for PCDH17 Gene

Protocadherin 17:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDH17 Gene

No ASD Table

Relevant External Links for PCDH17 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCDH17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCDH17 Gene

mRNA differential expression in normal tissues according to GTEx for PCDH17 Gene

This gene is overexpressed in Spleen (x5.1), Brain - Anterior cingulate cortex (BA24) (x4.6), and Brain - Hypothalamus (x4.4).

Protein differential expression in normal tissues from HIPED for PCDH17 Gene

This gene is overexpressed in Prostate (18.0), Ovary (15.7), Retina (12.7), Lung (8.6), and Fetal Brain (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PCDH17 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCDH17 Gene:


SOURCE GeneReport for Unigene cluster for PCDH17 Gene:


Evidence on tissue expression from TISSUES for PCDH17 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with PCDH17: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDH17 Gene

Orthologs for PCDH17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDH17 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PCDH17 34 33
  • 99.65 (n)
(Canis familiaris)
Mammalia PCDH17 34 33
  • 93.18 (n)
(Bos Taurus)
Mammalia PCDH17 34 33
  • 92.09 (n)
(Monodelphis domestica)
Mammalia PCDH17 34
  • 91 (a)
(Mus musculus)
Mammalia Pcdh17 16 34 33
  • 90.28 (n)
(Rattus norvegicus)
Mammalia Pcdh17 33
  • 89.9 (n)
(Gallus gallus)
Aves PCDH17 34 33
  • 81.64 (n)
(Anolis carolinensis)
Reptilia PCDH17 34
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pcdh17 33
  • 73.01 (n)
(Danio rerio)
Actinopterygii pcdh17 34 33
  • 70.02 (n)
Species where no ortholog for PCDH17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 PCDH17 Gene

Gene Tree for PCDH17 (if available)
Gene Tree for PCDH17 (if available)
Evolutionary constrained regions (ECRs) for PCDH17: view image

Paralogs for PCDH17 Gene

genes like me logo Genes that share paralogs with PCDH17: view

Variants for PCDH17 Gene

Sequence variations from dbSNP and Humsavar for PCDH17 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000040098 -- 57,714,804(+) C/G genic_downstream_transcript_variant, intron_variant
rs1000082271 -- 57,655,562(+) A/G intron_variant
rs1000111370 -- 57,677,640(+) A/G intron_variant
rs1000160682 -- 57,707,793(+) C/T intron_variant
rs1000163579 -- 57,677,253(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PCDH17 Gene

Variant ID Type Subtype PubMed ID
esv29724 CNV loss 19812545
esv3632247 CNV loss 21293372
nsv1044463 CNV loss 25217958
nsv1060 CNV insertion 18451855
nsv1122826 CNV deletion 24896259
nsv477585 CNV novel sequence insertion 20440878
nsv507701 OTHER sequence alteration 20534489
nsv518063 CNV loss 19592680
nsv526745 CNV loss 19592680
nsv527993 CNV loss 19592680
nsv561812 CNV loss 21841781
nsv561813 CNV gain 21841781
nsv832620 CNV gain 17160897

Variation tolerance for PCDH17 Gene

Residual Variation Intolerance Score: 3.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCDH17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDH17 Gene

Disorders for PCDH17 Gene

Additional Disease Information for PCDH17

No disorders were found for PCDH17 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDH17 Gene

Publications for PCDH17 Gene

  1. Genome-wide analyses of human perisylvian cerebral cortical patterning. (PMID: 17978184) Abrahams BS … Geschwind DH (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 58
  2. Frequent silencing of protocadherin 17, a candidate tumour suppressor for esophageal squamous cell carcinoma. (PMID: 20200074) Haruki S … Inazawa J (Carcinogenesis 2010) 3 22 58
  3. Cloning and characterization of zebrafish protocadherin-17. (PMID: 19449025) Biswas S … Jontes JD (Development genes and evolution 2009) 3 22 58
  4. Global gene analysis of late secretory phase, eutopic endometrium does not provide the basis for a minimally invasive test of endometriosis. (PMID: 18353903) Sherwin JR … D'Hooghe TM (Human reproduction (Oxford, England) 2008) 3 22 58
  5. Gene expression profiling in Brodmann's area 46 from subjects with schizophrenia. (PMID: 17464717) Dean B … Thomas EA (The Australian and New Zealand journal of psychiatry 2007) 3 22 58

Products for PCDH17 Gene

Sources for PCDH17 Gene

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