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

Gene ID: 2986, updated on 12-Oct-2019

Summary

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
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

Genomic context

See GUCY2F in Genome Data Viewer
Location:
Xq22.3-q23
Exon count:
22
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (109372061..109482086, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (108616135..108725285, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928358 Neighboring gene insulin receptor substrate 4 Neighboring gene RNA, U6 small nuclear 309, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8383 Neighboring gene mitofusin-1-like Neighboring gene nuclear transport factor 2 like export factor 2

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 Apr 4 07:08:55 2018

Bibliography

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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
guanylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
natriuretic peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cGMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cGMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
detection of light stimulus involved in visual perception IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
receptor guanylyl cyclase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
nuclear outer membrane TAS
Traceable Author Statement
more info
PubMed 
photoreceptor disc membrane TAS
Traceable Author Statement
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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_001522.3NP_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
    Related
    ENSP00000218006.2, ENST00000218006.3
    Conserved Domains (6) summary
    cd06371
    Location:54435
    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:8481040
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:8751062
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam01094
    Location:75412
    ANF_receptor; Receptor family ligand binding region
    pfam07701
    Location:824869
    HNOBA; Heme NO binding associated
    cl21453
    Location:545815
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    109372061..109482086 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_244473.3 RNA Sequence

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