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PCDH19 protocadherin 19 [ Homo sapiens (human) ]

Gene ID: 57526, updated on 3-Jun-2014
Official Symbol
PCDH19provided by HGNC
Official Full Name
protocadherin 19provided by HGNC
Primary source
HGNC:14270
Locus tag
RP11-99E24.1
See related
Ensembl:ENSG00000165194; HPRD:11843; MIM:300460; Vega:OTTHUMG00000022000
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
EFMR; EIEE9
Summary
The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
See PCDH19 in Epigenomics, MapViewer
Location:
Xq22.1
Exon count :
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (100291644..100410273, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (99546642..99665271, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene Neighboring gene ribosomal protein SA pseudogene 8 Neighboring gene tenomodulin Neighboring gene tetraspanin 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Early infantile epileptic encephalopathy 9
MedGen: C1848137 OMIM: 300088 GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-06-06)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-06-06)

ISCA Genome Curation PagePubMed

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
homophilic cell adhesion 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-19
Names
protocadherin-19

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.

Genomic

  1. NG_021319.1 

    Range
    5001..123630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001105243.1NP_001098713.1  protocadherin-19 isoform a precursor

    See proteins identical to NP_001098713.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform c.
    Source sequence(s)
    AB037734, AK096591, AL355593, BM975868, CR749278, DA500179
    Consensus CDS
    CCDS43976.1
    UniProtKB/TrEMBL
    B3KU71
    UniProtKB/Swiss-Prot
    Q8TAB3
    Related
    ENSP00000255531, OTTHUMP00000023649, ENST00000255531, OTTHUMT00000057478
    Conserved Domains (1) summary
    cd11304
    Location:242342
    Blast Score: 316
    Cadherin_repeat; Cadherin tandem repeat domain
  2. NM_001184880.1NP_001171809.1  protocadherin-19 isoform c precursor

    See proteins identical to NP_001171809.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).
    Source sequence(s)
    AB037734, BM975868, EF676096
    Consensus CDS
    CCDS55462.1
    UniProtKB/Swiss-Prot
    Q8TAB3
    Related
    ENSP00000362125, OTTHUMP00000023650, ENST00000373034, OTTHUMT00000057479
    Conserved Domains (1) summary
    cd11304
    Location:242342
    Blast Score: 317
    Cadherin_repeat; Cadherin tandem repeat domain
  3. NM_020766.2NP_065817.2  protocadherin-19 isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform c.
    Source sequence(s)
    AB037734, AK096591, AL355593, BM975868, CR749278, DA500179
    Consensus CDS
    CCDS48141.1
    UniProtKB/TrEMBL
    B3KU71
    UniProtKB/Swiss-Prot
    Q8TAB3
    Related
    ENSP00000400327, OTTHUMP00000226658, ENST00000420881, OTTHUMT00000378687
    Conserved Domains (1) summary
    cd11304
    Location:242342
    Blast Score: 316
    Cadherin_repeat; Cadherin tandem repeat domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    100291644..100410273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    89347660..89465802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    99439320..99557952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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