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PDE6C phosphodiesterase 6C [ Homo sapiens (human) ]

Gene ID: 5146, updated on 18-Nov-2018

Summary

Official Symbol
PDE6Cprovided by HGNC
Official Full Name
phosphodiesterase 6Cprovided by HGNC
Primary source
HGNC:HGNC:8787
See related
Ensembl:ENSG00000095464 MIM:600827; Vega:OTTHUMG00000018775
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
COD4; ACHM5; PDEA2
Summary
This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See PDE6C in Genome Data Viewer
Location:
10q23.33
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (93612588..93665673)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (95372345..95425430)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene free fatty acid receptor 4 Neighboring gene retinol binding protein 4 Neighboring gene FRA10A associated CGG repeat 1 Neighboring gene FRA10A repeat instability region Neighboring gene uncharacterized LOC101927013

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?

Phenotypes

Associated conditions

Description Tests
Achromatopsia
MedGen: C0152200 GeneReviews: Achromatopsia
Compare labs
Cone dystrophy 4
MedGen: C2751308 OMIM: 613093 GeneReviews: Achromatopsia
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of preschool internalizing problems.
NHGRI GWA Catalog

Pathways from BioSystems

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
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
phototransduction, visible light IEA
Inferred from Electronic Annotation
more info
 
retinal cone cell development IEA
Inferred from Electronic Annotation
more info
 
visual perception IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
Names
cGMP phosphodiesterase 6C
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
NP_006195.3

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_016752.1 RefSeqGene

    Range
    5001..58086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006204.3NP_006195.3  cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'

    See identical proteins and their annotated locations for NP_006195.3

    Status: REVIEWED

    Source sequence(s)
    AL356214, BG206143, BG220856, U31973
    Consensus CDS
    CCDS7429.1
    UniProtKB/Swiss-Prot
    P51160
    Related
    ENSP00000360502.3, OTTHUMP00000020119, ENST00000371447.3, OTTHUMT00000049437
    Conserved Domains (2) summary
    smart00065
    Location:80231
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:561806
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

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_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    93612588..93665673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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