PCDH19

GENERAL INFORMATION

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Gene name

PCDH19

Gene description

Protocadherin 19

Protein class

Disease related genes
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (cerebral cortex)
GTEx:Tissue enhanced (cerebral cortex)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues, most abundant in peripheral nerves and neurons.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA027533
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebral cortex)

Organ

Expression



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

Cytoband

q22.1

Chromosome location (bp)

100291644 - 100410273

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000165194 (version 78.38)

Entrez gene

57526

UniProt

Q8TAB3 (UniProt - Evidence at protein level)

neXtProt

NX_Q8TAB3

Antibodypedia

PCDH19 antibodies


PROTEIN BROWSER

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ENST00000255531
 
ENST00000373034
 
ENST00000420881
 
 
 
 


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
Q8TAB3
Show all »
Show » Show » 1100 121 Yes 1