Cell atlas - PDE6H - The Human Protein Atlas

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PDE6H

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	PDE6H
Gene description	Phosphodiesterase 6H, cGMP-specific, cone, gamma
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	1
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Not detected
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Not detected Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	PDE6H
Synonyms
Description	Phosphodiesterase 6H, cGMP-specific, cone, gamma (HGNC Symbol)
Entrez gene summary	This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]
Chromosome	12
Cytoband	p12.3
Chromosome location (bp)	14973022 - 14981865
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000139053 (version 83.38)
Entrez gene	5149
UniProt	Q13956 (UniProt - Evidence at protein level)
neXtProt	NX_Q13956
Antibodypedia	PDE6H antibodies

PROTEIN BROWSER

PDE6H-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PDE6H-001 ENSP00000266395 ENST00000266395	Q13956 [Direct mapping] Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma Show all	Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Disease related genes Potential drug targets Show all	GO:0000187 [activation of MAPK activity] GO:0004114 [3',5'-cyclic-nucleotide phosphodiesterase activity] GO:0004857 [enzyme inhibitor activity] GO:0005515 [protein binding] GO:0007601 [visual perception] GO:0008152 [metabolic process] GO:0030553 [cGMP binding] GO:0043086 [negative regulation of catalytic activity] GO:0045742 [positive regulation of epidermal growth factor receptor signaling pathway] GO:0045745 [positive regulation of G-protein coupled receptor protein signaling pathway] GO:0047555 [3',5'-cyclic-GMP phosphodiesterase activity] GO:0050896 [response to stimulus] Show all	83 aa 9.1 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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