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PDE6H phosphodiesterase 6H [ Homo sapiens (human) ]

Gene ID: 5149, updated on 29-Sep-2018

Summary

Official Symbol
PDE6Hprovided by HGNC
Official Full Name
phosphodiesterase 6Hprovided by HGNC
Primary source
HGNC:HGNC:8790
See related
Ensembl:ENSG00000139053 MIM:601190; Vega:OTTHUMG00000168743
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RCD3; ACHM6
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See PDE6H in Genome Data Viewer
Location:
12p12.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (14973022..14981865)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (15125956..15134799)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene endoplasmic reticulum protein 27 Neighboring gene uncharacterized LOC105369670 Neighboring gene Rho GDP dissociation inhibitor beta Neighboring gene long intergenic non-protein coding RNA 1489 Neighboring gene uncharacterized LOC107984506 Neighboring gene RAS like estrogen regulated growth inhibitor

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3',5'-cyclic-GMP phosphodiesterase activity IEA
Inferred from Electronic Annotation
more info
 
cGMP binding IEA
Inferred from Electronic Annotation
more info
 
enzyme inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of MAPK activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epidermal growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
Names
GMP-PDE gamma
phosphodiesterase 6H, cGMP-specific, cone, gamma
NP_006196.1
XP_016874920.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016859.1 RefSeqGene

    Range
    5001..13844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006205.2NP_006196.1  retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

    See identical proteins and their annotated locations for NP_006196.1

    Status: REVIEWED

    Source sequence(s)
    BU729922, D45399, EL946662
    Consensus CDS
    CCDS8672.1
    UniProtKB/Swiss-Prot
    Q13956
    Related
    ENSP00000266395.2, OTTHUMP00000239347, ENST00000266395.2, OTTHUMT00000400880
    Conserved Domains (1) summary
    pfam04868
    Location:283
    PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    14973022..14981865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019431.2XP_016874920.1  retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X1

    UniProtKB/Swiss-Prot
    Q13956
    Conserved Domains (1) summary
    pfam04868
    Location:283
    PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit
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