PDE6A

GENERAL INFORMATION

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Gene name

PDE6A

Gene description

Phosphodiesterase 6A, cGMP-specific, rod, alpha

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (colon, rectum, testis)
GTEx:Tissue enhanced (colon, testis)

Protein evidence

Evidence at protein level

Protein localization

RNA-based expert annotation could not be performed.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining not consistent with RNA expression data. Pending external verification.

Data reliability

Uncertain based on 1 antibody.
HPA016970
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (colon, rectum, testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (colon, testis)

Organ

Expression



GENE INFORMATION

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Gene name

PDE6A (HGNC Symbol)

Synonyms

PDEA, RP43

Description

Phosphodiesterase 6A, cGMP-specific, rod, alpha (HGNC Symbol)

Entrez gene summary

This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]

Chromosome

5

Cytoband

q32

Chromosome location (bp)

149857955 - 149944793

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000132915 (version 78.38)

Entrez gene

5145

UniProt

P16499 (UniProt - Evidence at protein level)

neXtProt

NX_P16499

Antibodypedia

PDE6A antibodies


PROTEIN BROWSER

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ENST00000255266
 
ENST00000613228
 
ENST00000617647
 
 
 
 


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)

PDE6A-001 ENSP00000255266
ENST00000255266
P16499
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Show » Show » 860 99.5 No 0
PDE6A-201 ENSP00000478060
ENST00000613228
F1T0K3
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Show » Show » 779 90.1 No 0
PDE6A-202 ENSP00000482774
ENST00000617647
F1T0K3
Show all »
Show » Show » 779 90.1 No 0