PDE6C phosphodiesterase 6C [Homo sapiens (human)] - Gene

Summary

Official Symbol: PDE6Cprovided by HGNC
Official Full Name: phosphodiesterase 6Cprovided by HGNC
Primary source: HGNC:HGNC:8787
See related: Ensembl:ENSG00000095464 MIM:600827; AllianceGenome:HGNC:8787
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: mouse all
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Genomic context

Location:: 10q23.33

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (93612537..93666010)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (94492491..94545941)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (95372294..95425767)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.
Title: Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.
Reconstitution of the phosphodiesterase 6 maturation process important for photoreceptor cell function.
Title: Reconstitution of the phosphodiesterase 6 maturation process important for photoreceptor cell function.
An enhancer located in a Pde6c intron drives transient expression in the cone photoreceptors of developing mouse and human retinas.
Title: An enhancer located in a Pde6c intron drives transient expression in the cone photoreceptors of developing mouse and human retinas.
Two novel PDE6C gene mutations in Chinese family with achromatopsia.
Title: Two novel PDE6C gene mutations in Chinese family with achromatopsia.
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
Title: PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia.
Title: Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia.
Three novel homozygous variants were detected in CNGA3, two novel variants were found in PDE6C. All patients had nonrecordable full-field electroretinography 30-Hz flicker responses, reduced single-flash cone responses but preserved rod responses.
Title: Novel causative variants in patients with achromatopsia.
This study reveals two general mechanisms of missense PDE6C mutations underlying retinal diseases: (a) inability of AIPL1 to fold mutant PDE6C proteins leading to complete catalytic inactivity and (b) failure of P gamma regulatory subunit to serve as co-chaperone with AIPL1 in folding of mutant PDE6C.
Title: Mechanisms of mutant PDE6 proteins underlying retinal diseases.
A novel homozygous PDE6C mutation was identified as the cause of ACHM. In addition, we identified an OPN1SW mutation in the sibling with complete achromatopsia.
Title: Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
Expression of PDE6 in rod photoreceptors show that the cone PDE6 isoform is responsible for the difference in light adaptation between rods and cones.
Title: Exchange of Cone for Rod Phosphodiesterase 6 Catalytic Subunits in Rod Photoreceptors Mimics in Part Features of Light Adaptation.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Achromatopsia MedGen: C0152200 GeneReviews: Achromatopsia	not available
Cone dystrophy 4 MedGen: C2751308 OMIM: 613093 GeneReviews: Achromatopsia	not available

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of preschool internalizing problems. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79144 (e-PCR)
- UniSTS:65392

PDE6C-1 (e-PCR)
- UniSTS:512643

SHGC-31657 (e-PCR)
- UniSTS:65719

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3',5'-cyclic-AMP phosphodiesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3',5'-cyclic-GMP phosphodiesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cGMP binding	IEA Inferred from Electronic Annotation more info
enables calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity	IEA Inferred from Electronic Annotation more info
enables calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cAMP-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in phototransduction, visible light	IEA Inferred from Electronic Annotation more info
involved_in retinal cone cell development	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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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

EC 3.1.4.35

NCBI Reference Sequences (RefSeq)

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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

NG_016752.1 RefSeqGene

Range

4950..58423

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006204.4 → NP_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)

AL157396, AL356214, BG206143, BG220856, U31973

Consensus CDS

CCDS7429.1

UniProtKB/Swiss-Prot

A6NCR6, P51160, Q5VY29

Related

ENSP00000360502.3, ENST00000371447.4

Conserved Domains (2) summary

smart00065
Location:80 → 231

GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases

pfam00233
Location:561 → 806

PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase