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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 and Patent Foramen Ovale. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH17.

UniProtKB/Swiss-Prot for PCDH18 Gene

  • Potential calcium-dependent cell-adhesion protein.

Gene Wiki entry for PCDH18 Gene

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

Genomics for PCDH18 Gene

Regulatory Elements for PCDH18 Gene

Enhancers for PCDH18 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around PCDH18 on UCSC Golden Path with GeneCards custom track

Promoters for PCDH18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCDH18 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCDH18 Gene

Chromosome:
4
Start:
137,518,918 bp from pter
End:
137,532,498 bp from pter
Size:
13,581 bases
Orientation:
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:
    Q9HCL0-PCD18_HUMAN
    Recommended name:
    Protocadherin-18
    Protein Accession:
    Q9HCL0
    Secondary Accessions:
    • A8K7K3
    • B7ZKT1
    • Q52LS2

    Protein attributes for PCDH18 Gene

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

    Alternative splice isoforms for PCDH18 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDH18 Gene

Post-translational modifications for PCDH18 Gene

  • Glycosylation at Asn 103, Asn 269, Asn 420, Asn 559, Asn 583, and Asn 641
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDH18 Gene

Antibody Products

No data available for DME Specific Peptides for PCDH18 Gene

Domains & Families for PCDH18 Gene

Gene Families for PCDH18 Gene

Protein Domains for PCDH18 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HCL0

UniProtKB/Swiss-Prot:

PCD18_HUMAN :
  • Contains 6 cadherin domains.
Domain:
  • Contains 6 cadherin domains.
genes like me logo Genes that share domains with PCDH18: view

Function for PCDH18 Gene

Molecular function for PCDH18 Gene

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

Gene Ontology (GO) - Molecular Function for PCDH18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Flow Cytometry Products

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

COMPARTMENTS
Jensen Localization Image for PCDH18 Gene COMPARTMENTS Subcellular localization image for PCDH18 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
cytosol 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PCDH18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma 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

Interacting Proteins for PCDH18 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000355082%0d%0a9606.ENSP00000360277%0d%0a9606.ENSP00000432472%0d%0a9606.ENSP00000346155%0d%0a9606.ENSP00000346155%0d%0a9606.ENSP00000344456%0d%0a
Selected Interacting proteins: ENSP00000355082 Q9HCL0-PCD18_HUMAN for PCDH18 Gene via STRING IID

Gene Ontology (GO) - Biological Process for PCDH18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
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 Nutra 0
genes like me logo Genes that share compounds with PCDH18: view

Transcripts for PCDH18 Gene

Unigene Clusters for PCDH18 Gene

Protocadherin 18:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Flow Cytometry Products

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: -
SP4:
SP5: -
SP6: - -
SP7:

Relevant External Links for PCDH18 Gene

GeneLoc Exon Structure for
PCDH18
ECgene alternative splicing isoforms for
PCDH18

Expression for PCDH18 Gene

mRNA expression in normal human tissues 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, PaxDb, 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:

PCDH18

SOURCE GeneReport for Unigene cluster for PCDH18 Gene:

Hs.591691

mRNA Expression by UniProt/SwissProt for PCDH18 Gene:

Q9HCL0-PCD18_HUMAN
Tissue specificity: Expressed in all tissues, with highest expression in lung and ovary.
genes like me logo Genes that share expression patterns with PCDH18: view

Primer Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia PCDH18 34
  • 92.68 (n)
  • 97.27 (a)
PCDH18 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCDH18 34
  • 82.19 (n)
  • 91.95 (a)
PCDH18 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcdh18 34
  • 86.92 (n)
  • 92.68 (a)
Pcdh18 16
Pcdh18 35
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCDH18 34
  • 99.74 (n)
  • 100 (a)
PCDH18 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcdh18 34
  • 86.73 (n)
  • 92.07 (a)
oppossum
(Monodelphis domestica)
Mammalia PCDH18 35
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCDH18 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCDH18 34
  • 78.96 (n)
  • 86.3 (a)
PCDH18 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCDH18 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcdh18 34
  • 73.88 (n)
  • 80.79 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.19441 34
pcdh18a 35
  • 68 (a)
OneToMany
pcdh18b 35
  • 67 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PCDH18 (if available)
TreeFam:
Gene Tree for PCDH18 (if available)

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 Sequence Context AA Info Type
rs1128422 -- 137,520,077(-) AATCT(C/T)CCCTT utr-variant-3-prime
rs1135219 -- 137,519,046(-) CATTA(A/G)GAAAA utr-variant-3-prime
rs1135220 -- 137,518,968(-) CCGCT(A/C)TTTTG utr-variant-3-prime
rs7436190 -- 137,533,973(+) TTTCC(A/C)AAAAA upstream-variant-2KB
rs7440183 -- 137,533,442(+) GGCTA(A/G)TCTTT upstream-variant-2KB

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)

Relevant External Links for PCDH18 Gene

Human Gene Mutation Database (HGMD)
PCDH18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDH18

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

Disorders for PCDH18 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hemophagocytic lymphohistiocytosis
  • haemophagocytic syndrome
patent foramen ovale
  • atrial septal defect within oval fossa
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PCDH18

Genetic Association Database (GAD)
PCDH18
Human Genome Epidemiology (HuGE) Navigator
PCDH18
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDH18
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 65
  2. Disabled-1 interacts with a novel developmentally regulated protocadherin. (PMID: 11716507) Homayouni R. … Curran T. (Biochem. Biophys. Res. Commun. 2001) 3 22 65
  3. Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members. (PMID: 10835267) Nollet F. … van Roy F. (J. Mol. Biol. 2000) 2 3 65
  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 Res. 2000) 3 4 65
  5. Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis. (PMID: 26739415) Gao L. … Zhou J. (Transl Res 2016) 3 65

Products for PCDH18 Gene

Sources for PCDH18 Gene

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