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Aliases for PCDH18 Gene

Aliases for PCDH18 Gene

  • Protocadherin 18 2 3 5
  • Protocadherin 68-Like Protein 3
  • Protocadherin-18 3
  • KIAA1562 4
  • PCDH68L 3

External Ids for PCDH18 Gene

Previous GeneCards Identifiers for PCDH18 Gene

  • GC04U990099
  • GC04M9M0022
  • GC04M138798
  • GC04M138660
  • GC04M138440
  • GC04M134169

Summaries for PCDH18 Gene

Entrez Gene Summary for PCDH18 Gene

  • This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCDH18 Gene

PCDH18 (Protocadherin 18) is a Protein Coding gene. Diseases associated with PCDH18 include Hemophagocytic Lymphohistiocytosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH12.

UniProtKB/Swiss-Prot for PCDH18 Gene

  • Potential calcium-dependent cell-adhesion protein.

Gene Wiki entry for PCDH18 Gene

Additional gene information for PCDH18 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDH18 Gene

Genomics for PCDH18 Gene

GeneHancer (GH) Regulatory Elements for PCDH18 Gene

Promoters and enhancers for PCDH18 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
GH04J137527 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.3 1284 6.6 CTCF PKNOX1 FOXA2 SIN3A CEBPG FEZF1 ZFHX2 ZNF366 POLR2A PATZ1 PCDH18 PIR60072
GH04J137609 Enhancer 0.5 ENCODE 11.1 -77.9 -77851 2 CTCF NANOG POLR2A NR2F2 ETS1 PCDH18 ENSG00000280352 ENSG00000250126 LOC101927414
GH04J137614 Enhancer 0.5 ENCODE 9.5 -82.2 -82204 0.2 SIX4 CTBP1 GATA3 FOXA2 FOXA1 PCDH18 ENSG00000280352 ENSG00000250126 LOC101927414
GH04J137662 Enhancer 0.8 FANTOM5 Ensembl ENCODE 2.8 -131.9 -131880 2.8 NANOG FOXP2 WT1 PCDH18 ENSG00000250126 LOC101927414
GH04J137310 Enhancer 0.4 ENCODE 4.5 +221.5 221539 1.8 JUND POLR2A FOS PCDH18 SERF1AP1 GC04M137375
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCDH18 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCDH18 gene promoter:
  • E2F-3a
  • E2F
  • E2F-1
  • E2F-2
  • AREB6
  • E2F-4
  • E2F-5
  • CUTL1
  • POU2F1
  • POU2F1a

Genomic Locations for PCDH18 Gene

Genomic Locations for PCDH18 Gene
13,581 bases
Minus strand
13,577 bases
Minus strand

Genomic View for PCDH18 Gene

Genes around PCDH18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDH18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDH18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDH18 Gene

Proteins for PCDH18 Gene

  • Protein details for PCDH18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A8K7K3
    • B7ZKT1
    • Q52LS2

    Protein attributes for PCDH18 Gene

    1135 amino acids
    Molecular mass:
    126149 Da
    Quaternary structure:
    • Interacts with DAB1.
    • Sequence=BAB13388.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PCDH18 Gene


neXtProt entry for PCDH18 Gene

Post-translational modifications for PCDH18 Gene

  • Glycosylation at Asn641, Asn583, isoforms=2559, isoforms=2420, isoforms=2269, and isoforms=2103
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PCDH18 Gene

Domains & Families for PCDH18 Gene

Gene Families for PCDH18 Gene

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

Protein Domains for PCDH18 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCDH18: view

No data available for UniProtKB/Swiss-Prot for PCDH18 Gene

Function for PCDH18 Gene

Molecular function for PCDH18 Gene

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

Phenotypes From GWAS Catalog for PCDH18 Gene

Gene Ontology (GO) - Molecular Function for PCDH18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDH18: view
genes like me logo Genes that share phenotypes with PCDH18: view

Animal Models for PCDH18 Gene

MGI Knock Outs for PCDH18:
  • Pcdh18 Pcdh18<tm1.1(KOMP)Vlcg>

Animal Model Products

Clone Products

  • R&D Systems cDNA Clones for PCDH18 (Protocadherin-18)

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PCDH18 Gene

Localization for PCDH18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDH18 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 PCDH18 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
peroxisome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCDH18 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 PCDH18: view

Pathways & Interactions for PCDH18 Gene

SuperPathways for PCDH18 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCDH18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA,IBA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007267 cell-cell signaling IBA --
GO:0007399 nervous system development IEA,IBA --
GO:0007420 brain development ISS --
genes like me logo Genes that share ontologies with PCDH18: view

No data available for Pathways by source and SIGNOR curated interactions for PCDH18 Gene

Drugs & Compounds for PCDH18 Gene

(1) Drugs for PCDH18 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 PCDH18: view

Transcripts for PCDH18 Gene

mRNA/cDNA for PCDH18 Gene

Unigene Clusters for PCDH18 Gene

Protocadherin 18:
Representative Sequences:

Clone Products

  • R&D Systems cDNA Clones for PCDH18 (Protocadherin-18)

Alternative Splicing Database (ASD) splice patterns (SP) for PCDH18 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
SP1: - - - -
SP2: - - - - -
SP3: -
SP5: -
SP6: - -

Relevant External Links for PCDH18 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCDH18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCDH18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PCDH18 Gene

This gene is overexpressed in Plasma (66.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PCDH18 Gene

Protein tissue co-expression partners for PCDH18 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCDH18 Gene:


SOURCE GeneReport for Unigene cluster for PCDH18 Gene:


mRNA Expression by UniProt/SwissProt for PCDH18 Gene:

Tissue specificity: Expressed in all tissues, with highest expression in lung and ovary.

Evidence on tissue expression from TISSUES for PCDH18 Gene

  • Heart(5)
  • Liver(5)
  • Lung(5)
  • Nervous system(5)
  • Intestine(4.8)
  • Blood(4.2)
  • Spleen(4.1)
  • Pancreas(3.9)
genes like me logo Genes that share expression patterns with PCDH18: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDH18 Gene

Orthologs for PCDH18 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDH18 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PCDH18 34 33
  • 99.74 (n)
(Monodelphis domestica)
Mammalia PCDH18 34
  • 93 (a)
(Bos Taurus)
Mammalia PCDH18 34 33
  • 92.68 (n)
(Mus musculus)
Mammalia Pcdh18 16 34 33
  • 86.92 (n)
(Rattus norvegicus)
Mammalia Pcdh18 33
  • 86.73 (n)
(Canis familiaris)
Mammalia PCDH18 34 33
  • 82.19 (n)
(Ornithorhynchus anatinus)
Mammalia PCDH18 34
  • 52 (a)
(Gallus gallus)
Aves PCDH18 34 33
  • 78.96 (n)
(Anolis carolinensis)
Reptilia PCDH18 34
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pcdh18 33
  • 73.88 (n)
(Danio rerio)
Actinopterygii pcdh18a 34
  • 68 (a)
pcdh18b 34
  • 67 (a)
Dr.19441 33
Species where no ortholog for PCDH18 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)
  • 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 PCDH18 Gene

Gene Tree for PCDH18 (if available)
Gene Tree for PCDH18 (if available)
Evolutionary constrained regions (ECRs) for PCDH18: view image

Paralogs for PCDH18 Gene

genes like me logo Genes that share paralogs with PCDH18: view

Variants for PCDH18 Gene

Sequence variations from dbSNP and Humsavar for PCDH18 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000030683 -- 137,519,356(-) T/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000046391 -- 137,522,412(-) G/A intron_variant
rs1000078640 -- 137,523,951(-) A/C intron_variant
rs1000271264 -- 137,528,740(-) C/T coding_sequence_variant, synonymous_variant
rs10004843 -- 137,523,207(-) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PCDH18 Gene

Variant ID Type Subtype PubMed ID
nsv516176 CNV gain+loss 19592680
nsv595521 CNV loss 21841781
nsv595576 CNV loss 21841781

Variation tolerance for PCDH18 Gene

Residual Variation Intolerance Score: 4.75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 48.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCDH18 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDH18 Gene

Disorders for PCDH18 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PCDH18 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hemophagocytic lymphohistiocytosis
  • fhl
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PCDH18

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PCDH18: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCDH18 Gene

Publications for PCDH18 Gene

  1. Identification and characterization of three members of a novel subclass of protocadherins. (PMID: 11549318) Wolverton T … Lalande M (Genomics 2001) 2 3 4 22 58
  2. Disabled-1 interacts with a novel developmentally regulated protocadherin. (PMID: 11716507) Homayouni R … Curran T (Biochemical and biophysical research communications 2001) 3 22 58
  3. Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members. (PMID: 10835267) Nollet F … van Roy F (Journal of molecular biology 2000) 2 3 58
  4. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 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 PCDH18 Gene

Sources for PCDH18 Gene

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