Tissue expression of PCDH19 - Summary - The Human Protein Atlas

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PCDH19

TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
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

RNA tissue category

HPA:	Tissue enhanced (cerebral cortex)
GTEx:	Tissue enhanced (hypothalamus)
FANTOM5:	Tissue enhanced (hippocampus, brain)

Protein evidence

Evidence at protein level

Protein expression

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

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Approved based on 1 antibody. HPA027533
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (cerebral cortex)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (hypothalamus)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (hippocampus, brain)

GENE INFORMATION
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 83.38)
Entrez gene	57526
UniProt	Q8TAB3 (UniProt - Evidence at protein level)
neXtProt	NX_Q8TAB3
Antibodypedia	PCDH19 antibodies

PROTEIN BROWSER

PCDH19-001	PCDH19-002	PCDH19-004

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PCDH19-001 ENSP00000255531 ENST00000255531	Q8TAB3 [Direct mapping] Protocadherin-19 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005509 [calcium ion binding] GO:0005886 [plasma membrane] GO:0007155 [cell adhesion] GO:0007156 [homophilic cell adhesion via plasma membrane adhesion molecules] GO:0007420 [brain development] GO:0016020 [membrane] GO:0016021 [integral component of membrane] Show all	1101 aa 121.1 kDa	Yes	1
PCDH19-002 ENSP00000362125 ENST00000373034	Q8TAB3 [Direct mapping] Protocadherin-19 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005509 [calcium ion binding] GO:0005886 [plasma membrane] GO:0007155 [cell adhesion] GO:0007156 [homophilic cell adhesion via plasma membrane adhesion molecules] GO:0007420 [brain development] GO:0016020 [membrane] GO:0016021 [integral component of membrane] Show all	1148 aa 126.3 kDa	Yes	1
PCDH19-004 ENSP00000400327 ENST00000420881	Q8TAB3 [Direct mapping] Protocadherin-19 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005509 [calcium ion binding] GO:0005886 [plasma membrane] GO:0007155 [cell adhesion] GO:0007156 [homophilic cell adhesion via plasma membrane adhesion molecules] GO:0007420 [brain development] GO:0016020 [membrane] GO:0016021 [integral component of membrane] Show all	1100 aa 121 kDa	Yes	1

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.