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    PDE6H phosphodiesterase 6H [ Homo sapiens (human) ]

    Gene ID: 5149, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PDE6Hprovided by HGNC
    Official Full Name
    phosphodiesterase 6Hprovided by HGNC
    Primary source
    HGNC:HGNC:8790
    See related
    Ensembl:ENSG00000139053 MIM:601190; AllianceGenome:HGNC:8790
    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
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    Genomic context

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    See PDE6H in Genome Data Viewer
    Location:
    12p12.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (14973042..14981865)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (14850375..14859197)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (15125976..15134799)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6059 Neighboring gene endoplasmic reticulum protein 27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6060 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:15103381-15104580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6064 Neighboring gene Rho GDP dissociation inhibitor beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4277 Neighboring gene long intergenic non-protein coding RNA 1489 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:15191267-15191767 Neighboring gene RERG intronic transcript 1 Neighboring gene RAS like estrogen regulated growth inhibitor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H). Shimizu-Matsumoto A, et al. Genomics, 1996 Feb 15. PMID 8786098
    2. A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. Piri N, et al. Ophthalmology, 2005 Jan. PMID 15629837
    3. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Kohl S, et al. Am J Hum Genet, 2012 Sep 7. PMID 22901948, Free PMC Article
    4. A phosphodiesterase inhibitor specific to a subset of bovine retinal cones. Hamilton SE, et al. J Biol Chem, 1990 Jul 5. PMID 2162841
    5. Three-dimensional structure of non-activated cGMP phosphodiesterase 6 and comparison of its image with those of activated forms. Kajimura N, et al. J Struct Biol, 2002 Jul. PMID 12372317

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These findings add PDE6H to the set of genes involved in autosomal-recessive cone disorders and demonstrate the importance of the inhibitory gamma subunit in cone phototransduction
      Title: A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Our results indicate that mutations in the PDE6H gene are not common, because only 1 of 240 patients with cone dystrophy showed a single nucleotide substitution in the 5' UTR of PDE6H mRNA
      Title: A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.
    Submit: New GeneRIF Correction

    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
    		Compare labs
    Retinal cone dystrophy 3A
    MedGen: C1864900 OMIM: 610024 GeneReviews: Achromatopsia
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 enzyme inhibitor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in photoreceptor outer segment membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    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

    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

    1. NG_016859.1 RefSeqGene

      Range
      5021..13844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006205.3 → NP_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, Q52LY7
      Related
      ENSP00000266395.2, ENST00000266395.3
      Conserved Domains (1) summary
      pfam04868
      Location:2 → 83
      PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      14973042..14981865
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      14850375..14859197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13956.1 GenPept UniProtKB/Swiss-Prot:Q13956

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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