PCDH19

GENE INFORMATION

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Gene name

PCDH19 (HGNC Symbol)

Synonyms

EFMR, EIEE9, KIAA1313

Description

protocadherin 19 (HGNC Symbol)

Entrez gene 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]

Chromosome

X (Chromosome progress)

Cytoband

q22.1

Chromosome location (bp)

99546642 - 99665271

Ensembl

ENSG00000165194 (version 73.37)

Entrez gene

57526

UniProt

Q8TAB3 (UniProt - Evidence at protein level)

neXtProt

NX_Q8TAB3

Antibodypedia

PCDH19 antibodies
 

PROTEIN VIEW

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PCDH19-001
 
PCDH19-002
 
PCDH19-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PCDH19-001 ENSP00000255531
ENST00000255531
Q8TAB3
Show all »
Show » Show » 1101 121.1 Yes 1
PCDH19-002 ENSP00000362125
ENST00000373034
Q8TAB3
Show all »
Show » Show » 1148 126.3 Yes 1
PCDH19-004 ENSP00000400327
ENST00000420881
E9PAM6
Show all »
Show » Show » 1100 121 Yes 1