Format

Send to:

Choose Destination

PCDH18 protocadherin 18 [ Homo sapiens (human) ]

Gene ID: 54510, updated on 7-May-2016
Official Symbol
PCDH18provided by HGNC
Official Full Name
protocadherin 18provided by HGNC
Primary source
HGNC:HGNC:14268
See related
Ensembl:ENSG00000189184 HPRD:12205; MIM:608287; Vega:OTTHUMG00000161348
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PCDH68L
Summary
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]
Orthologs
Location:
4q31
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (137518918..137532498, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (138440072..138453629, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S23 pseudogene 2 Neighboring gene uncharacterized LOC105377442 Neighboring gene uncharacterized LOC105377443 Neighboring gene uncharacterized LOC101927414

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
NHGRI GWA Catalog
Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer.
NHGRI GWA Catalog
Genome-wide association study of retinopathy in individuals without diabetes.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1562, DKFZp434B0923

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protocadherin-18
Names
protocadherin 68-like protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001300828.1NP_001287757.1  protocadherin-18 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001287757.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AB046782, AK292018, BG541979, BQ017212, BX097655, BX647786
    Consensus CDS
    CCDS75193.1
    UniProtKB/Swiss-Prot
    Q9HCL0
    UniProtKB/TrEMBL
    Q5HYG2
    Related
    ENSP00000390688, OTTHUMP00000220080, ENST00000412923, OTTHUMT00000364615
    Conserved Domains (1) summary
    cd11304
    Location:470572
    Cadherin_repeat; Cadherin tandem repeat domain
  2. NM_019035.4NP_061908.1  protocadherin-18 isoform 1 precursor

    See identical proteins and their annotated locations for NP_061908.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB046782, BG541979, BQ017212, BX097655, BX647786
    Consensus CDS
    CCDS34064.1
    UniProtKB/Swiss-Prot
    Q9HCL0
    UniProtKB/TrEMBL
    Q5HYG2
    Related
    ENSP00000355082, OTTHUMP00000220079, ENST00000344876, OTTHUMT00000364614
    Conserved Domains (1) summary
    cd11304
    Location:470572
    Cadherin_repeat; Cadherin tandem repeat domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    137518918..137532498 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714239.2XP_006714302.1  

    See identical proteins and their annotated locations for XP_006714302.1

    Conserved Domains (1) summary
    cd11304
    Location:470572
    Cadherin_repeat; Cadherin tandem repeat domain

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    138416576..138430156 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)