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    GUCY2F guanylate cyclase 2F, retinal [ Homo sapiens (human) ]

    Gene ID: 2986, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GUCY2Fprovided by HGNC
    Official Full Name
    guanylate cyclase 2F, retinalprovided by HGNC
    Primary source
    HGNC:HGNC:4691
    See related
    Ensembl:ENSG00000101890 MIM:300041; AllianceGenome:HGNC:4691
    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
    CYGF; GC-F; GUC2F; GUC2DL; RETGC-2; ROS-GC2
    Summary
    The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See GUCY2F in Genome Data Viewer
    Location:
    Xq22.3-q23
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (109372906..109482086, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (107820404..107929552, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (108616135..108725315, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 309, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chrX:108268814-108269381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:108356812-108357387 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:108387340-108387890 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:108426594-108427161 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:108427729-108428296 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:108483829-108484360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29842 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:108542338-108542938 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:108590655-108591265 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:108617667-108618372 Neighboring gene GAPDH pseudogene 77 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:108715324-108715825 Neighboring gene Sharpr-MPRA regulatory region 8383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29844 Neighboring gene MFN1 pseudogene 1 Neighboring gene nuclear transport factor 2 like export factor 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Expression level and activity profile of membrane bound guanylate cyclase type 2 in rod outer segments. Helten A, et al. J Neurochem, 2007 Nov. PMID 17868328
    2. Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase. Peshenko IV, et al. J Biol Chem, 2021 Oct. PMID 34537244, Free PMC Article
    3. Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2. Lowe DG, et al. Proc Natl Acad Sci U S A, 1995 Jun 6. PMID 7777544, Free PMC Article
    4. Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers. Wood LD, et al. Hum Mutat, 2006 Oct. PMID 16941478
    5. The kinase homology domain of retinal guanylyl cyclases 1 and 2 specifies the affinity and cooperativity of interaction with guanylyl cyclase activating protein-2. Laura RP, et al. Biochemistry, 1998 Aug 11. PMID 9698373

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase.
      Title: Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase.
    2. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Genetic mutations associated with cigarette smoking in pancreatic cancer.
    3. Mutants of GC-activating protein 2 modulated ROS-GC2 in a manner different from their action on ROS-GC1 indicating that the Ca2+ sensitivity of the Ca2+ sensor is controlled by the mode of target-sensor interaction.
      Title: Expression level and activity profile of membrane bound guanylate cyclase type 2 in rod outer segments.
    4. Results show GUCY2F gene was implicated in the pathogenesis of breast, lung, and pancreatic cancers and it may be useful targets for diagnostic and therapeutic intervention in selected patients.
      Title: Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers.
    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

    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 ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanylate cyclase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanylate cyclase activity TAS
    Traceable Author Statement
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptide receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cGMP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cGMP-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in detection of light stimulus involved in visual perception IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in receptor guanylyl cyclase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of opsin-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nuclear outer membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in rod photoreceptor outer segment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    retinal guanylyl cyclase 2
    Names
    guanylate cyclase 2D-like, membrane (retina-specific)
    guanylate cyclase F
    rod outer segment membrane guanylate cyclase 2
    NP_001513.2

    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_009175.1 RefSeqGene

      Range
      4971..114151
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001522.3 → NP_001513.2  retinal guanylyl cyclase 2

      See identical proteins and their annotated locations for NP_001513.2

      Status: REVIEWED

      Source sequence(s)
      AL031387, L37378
      Consensus CDS
      CCDS14545.1
      UniProtKB/Swiss-Prot
      P51841, Q9UJF1
      Related
      ENSP00000218006.2, ENST00000218006.3
      Conserved Domains (6) summary
      cd06371
      Location:54 → 435
      PBP1_sensory_GC_DEF_like; Ligand-binding domain of membrane guanylyl cyclases (GC-D, GC-E, and GC-F) that are specifically expressed in sensory tissues
      smart00044
      Location:848 → 1040
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:875 → 1062
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam01094
      Location:75 → 412
      ANF_receptor; Receptor family ligand binding region
      pfam07701
      Location:824 → 869
      HNOBA; Heme NO binding associated
      cl21453
      Location:545 → 815
      PKc_like; Protein Kinases, catalytic domain

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      109372906..109482086 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      107820404..107929552 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51841.2 GenPept UniProtKB/Swiss-Prot:P51841

    Gene LinkOut

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

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