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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PCDH18 Gene

protein-coding   GIFtS: 54
GCID: GC04M138440

protocadherin 18
 Explore 1 disease affiliated with
PCDH18 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PCDH18    

Aliases
for PCDH18 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Protocadherin 181 2
KIAA15621 3 5
PCDH68L1 2
Protocadherin 68-Like Protein2
Protocadherin-181

External Ids:    HGNC: 142681   Entrez Gene: 545102   Ensembl: ENSG000001891847   OMIM: 6082875   UniProtKB: Q9HCL03   

Export aliases for PCDH18 gene to outside databases

Previous GC identifers: GC04U990099 GC04M9M0022 GC04M138798 GC04M138660 GC04M134169


Summaries
for PCDH18 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PCDH18:
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)

UniProtKB/Swiss-Prot: PCD18_HUMAN, Q9HCL0
Function: Potential calcium-dependent cell-adhesion protein

Gene Wiki entry for PCDH18


Genomic Views
for PCDH18 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PCDH18 gene promoter:
         E2F-4   E2F-3a   E2F-5   CUTL1   E2F-2   AREB6   POU2F1   E2F   E2F-1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PCDH18 promoter sequence
   Search SABiosciences Chromatin IP Primers for PCDH18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PCDH18


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q31   Ensembl cytogenetic band:  4q28.3   HGNC cytogenetic band: 4q28.3

PCDH18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PCDH18 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M138440:  view genomic region     (about GC identifiers)

Start:
 138,440,072 bp from pter      End:
 138,453,648 bp from pter
Size:
 13,577 bases      Orientation:
 minus strand

Proteins
for PCDH18 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PCD18_HUMAN, Q9HCL0 (See protein sequence)
Recommended Name: Protocadherin-18 precursor  
Size: 1135 amino acids; 126149 Da
Subunit: Interacts with DAB1 (By similarity)
Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity)
Sequence caution: Sequence=BAB13388.1; Type=Erroneous initiation;
Secondary accessions: A8K7K3 B7ZKT1 Q52LS2
Alternative splicing: 2 isoforms:  Q9HCL0-1   Q9HCL0-2   

Explore the universe of human proteins at neXtProt for PCDH18: NX_Q9HCL0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HCL0

    • PCDH18 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_061908.1  
    ENSEMBL proteins: 
     ENSP00000355082   ENSP00000390688   ENSP00000425903   ENSP00000424269   ENSP00000425647  

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    Uscn Proteins for PCDH18

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--


    PCDH18 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for PCDH18 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PCDH18 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR015919 Cadherin-like
     IPR013164 Cadherin_N
     IPR020894 Cadherin_CS
     IPR002126 Cadherin

    Graphical View of Domain Structure for InterPro Entry Q9HCL0

    ProtoNet protein and cluster: Q9HCL0

    1 Blocks protein family: IPB002126 Cadherin

    UniProtKB/Swiss-Prot: PCD18_HUMAN, Q9HCL0
    Similarity: Contains 6 cadherin domains


    Function
    for PCDH18 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PCD18_HUMAN, Q9HCL0
    Function: Potential calcium-dependent cell-adhesion protein

    miRNA
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    hsa-miR-100* hsa-miR-4272 hsa-miR-16-1* hsa-miR-488 hsa-miR-889 hsa-miR-34b hsa-miR-642b hsa-miR-223*
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----


    PCDH18 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for PCDH18:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 


    Pathways & Interactions
    for PCDH18 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PCDH18

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for PCDH18 (Q9HCL03 ENSP000003550824) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DAB1O755533, ENSP000003602774I2D: score=2 STRING: ENSP00000360277
    ATG5Q9H1Y03, ENSP000003433134I2D: score=1 STRING: ENSP00000343313
    APLP1P516933I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007156homophilic cell adhesion IEA--
    GO:0007420brain development ISS--


    PCDH18 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PCDH18 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PCDH18

    1 HMDB Compound for PCDH18    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about PCDH18 / PCD18 

    Transcripts
    for PCDH18 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PCDH18 gene: 
    NM_019035.3  

    Unigene Clusters for PCDH18:

    Protocadherin 18
    Hs.591691  [show with all ESTs], Hs.738416  [show with all ESTs]
    Unigene Representative Sequences: NM_019035, AK297122
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344876(uc003ihe.4 uc003ihf.4 uc011cgz.2 uc003ihg.4 uc011cha.2)
    ENST00000412923 ENST00000507846 ENST00000510305 ENST00000511115

    miRNA
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    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate PCDH18 (see all 38):
    hsa-miR-100* hsa-miR-4272 hsa-miR-16-1* hsa-miR-488 hsa-miR-889 hsa-miR-34b hsa-miR-642b hsa-miR-223*
    SwitchGear 3'UTR luciferase reporter plasmid: PCDH18 3' UTR sequence
    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PCDH18
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    Additional cDNA sequence: AK297122.1 

    4 DOTS entries:

    DT.444047  DT.97765645  DT.100784808  DT.95158627 

    24/127 AceView cDNA sequences (see all 127):

    AA292131 H88271 BU147090 CK000708 BQ948400 BM545802 CD657084 AB046782 
    W72511 AA604083 CN483156 BM562546 W76069 AI129871 BM474840 AA375083 
    BX642427 AA342606 NM_019035 AA961517 CA412450 AL699731 H88539 BC071581 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PCDH18 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
    SP1:                    -     -     -           -                                       
    SP2:                    -     -     -     -     -                                       
    SP3:                                            -                                       
    SP4:                                                                                    
    SP5:                                            -                                       


    ECgene alternative splicing isoforms for PCDH18

    Expression
    for PCDH18 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PCDH18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATCTCATATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PCDH18 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSertoli cellsTestis
    LungLung BudLung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    N2/LSB/S/F8/CHIR-induced cells (Generation of midbra...)

    See PCDH18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PCDH18

    SOURCE GeneReport for Unigene clusters: Hs.591691 Hs.738416

    UniProtKB/Swiss-Prot: PCD18_HUMAN, Q9HCL0
    Tissue specificity: Expressed in all tissues, with highest expression in lung and ovary

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    In Situ
    Assay Products:     
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    Orthologs
    for PCDH18 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for PCDH18 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PCDH181 protocadherin 18 78.94(n)
    86.28(a)    		   422438  XM_420404.3  XP_420404.3 
    lizard
    (Anolis carolinensis)    		 Reptilia PCDH186
    		 --
    		 84(a)
    		 1 ↔ 1
    		 5(121202663-121211025)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia BX712004.12   -- 79.05(n)    BX712004.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.194412 Transcribed sequence with moderate similarity to protein more 74.5(n)    AL730880.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea cdh-106
    		 CaDHerin family member (cdh-10)
    		 7(a)
    		 1 → many
    		 IV(2436514-2463368)


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

    Paralogs
    for PCDH18 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PCDH18 gene
    PCDH172  PCDH72  PCDH11X2  PCDH202  PCDH12  PCDH102  PCDH11Y2  PCDH122  
    PCDH92  PCDH192  PCDH82  
    18/69 SIMAP similar genes for PCDH18 using alignment to 5 protein entries:     PCD18_HUMAN (see all proteins) (see all similar genes):
    DKFZp434B0923    ME4    PCDHB17    ME6    PCDHAC2    PCDHGA4
    PCDHGB4    ME1    PCDHGA10    PCDHA1    PCDHA3    PCDHGA1
    PCDHGA11    PCDHGA12    PCDHGA5    PCDHGA8    PCDHGA9    PCDHGB5

    PCDH18 for paralogs           About GeneDecksing



    Genomic Variants
    for PCDH18 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Human Gene Mutation Database (HGMD): PCDH18
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PCDH18
    DNA2.0 Custom Variant and Variant Library Synthesis for PCDH18

    Disorders / Diseases
    for PCDH18 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PCDH18 for disorders           About GeneDecksing

    OMIM gene information: 608287    OMIM disorders: --

    1 disease for PCDH18:    About MalaCards
    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: PCDH18 (1 document)

    Export disorders for PCDH18 gene to outside databases

    Publications
    for PCDH18 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PCDH18 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with PCDH18)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of three members of a novel subclass of protocadherins. (PubMed id 11549318)1, 2, 3, 9 Wolverton T. and Lalande M. (2001)
    2. Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members. (PubMed id 10835267)1, 3 Nollet F....van Roy F. (2000)
    3. 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. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (2000)
    4. Disabled-1 interacts with a novel developmentally regulated protocadherin. (PubMed id 11716507)1, 9 Homayouni R....Curran T. (2001)
    5. A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. (PubMed id 22832960)1 Service S.K....Freimer N.B. (2012)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Recent progress in protocadherin research. (PubMed id 11082270)1 Suzuki S.T. (2000)

    External Searches for PCDH18 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing PCDH18 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54510 HGNC: 14268 AceView: PCDH18 Ensembl:ENSG00000189184 euGenes: HUgn54510
    ECgene: PCDH18 H-InvDB: PCDH18

    Other Databases showing PCDH18 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1562

    Specialized Databases showing PCDH18 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PCDH18 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    		Patent Information for PCDH18 gene:
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