GUCY2F

Protein-coding gene in humans
GUCY2F
Identifiers
AliasesGUCY2F, CYGF, GC-F, GUC2DL, GUC2F, RETGC-2, ROS-GC2, guanylate cyclase 2F, retinal
External IDsOMIM: 300041; MGI: 105119; HomoloGene: 37491; GeneCards: GUCY2F; OMA:GUCY2F - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for GUCY2F
Genomic location for GUCY2F
BandXq22.3-q23Start109,372,906 bp[1]
End109,482,086 bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for GUCY2F
Genomic location for GUCY2F
BandX F2|X 62.85 cMStart140,864,156 bp[2]
End140,979,927 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • testicle

  • right uterine tube

  • olfactory zone of nasal mucosa

  • endometrium

  • canal of the cervix

  • connective tissue

  • adipose tissue

  • body of uterus

  • viscus

  • abdomen
Top expressed in
  • layer of retina

  • neural layer of retina

  • ear

  • vestibular labyrinth

  • outer nuclear layer

  • olfactory bulb

  • diencephalon

  • hypothalamus

  • Cortex of frontal lobe

  • hippocampal formation
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein kinase activity
  • nucleotide binding
  • protein homodimerization activity
  • GTP binding
  • lyase activity
  • phosphorus-oxygen lyase activity
  • ATP binding
  • guanylate cyclase activity
  • signaling receptor activity
  • adenylate cyclase activity
  • protein heterodimerization activity
  • peptide receptor activity
Cellular component
  • integral component of membrane
  • membrane
  • integral component of plasma membrane
  • photoreceptor disc membrane
  • guanylate cyclase complex, soluble
  • nuclear outer membrane
  • plasma membrane
Biological process
  • intracellular signal transduction
  • response to stimulus
  • regulation of rhodopsin mediated signaling pathway
  • cyclic nucleotide biosynthetic process
  • detection of light stimulus involved in visual perception
  • protein phosphorylation
  • visual perception
  • receptor guanylyl cyclase signaling pathway
  • cGMP biosynthetic process
  • cGMP-mediated signaling
  • signal transduction
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

2986

245650

Ensembl

ENSG00000101890

ENSMUSG00000042282

UniProt

P51841

Q5SDA5

RefSeq (mRNA)

NM_001522

NM_001007576

RefSeq (protein)

NP_001513

NP_001007577

Location (UCSC)Chr X: 109.37 – 109.48 MbChr X: 140.86 – 140.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Retinal guanylyl cyclase 2 also known as guanylate cyclase F (GUCY2F) is a protein that in humans is encoded by the GUCY2F gene.[5]

Function

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.[5]

Clinical significance

Defects in this gene may be a cause of X-linked retinitis pigmentosa.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101890 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042282 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: Guanylate cyclase 2F, retinal".

Further reading

  • Blackford A, Parmigiani G, Kensler TW, Wolfgang C, Jones S, Zhang X, Parsons DW, Lin JC, Leary RJ, Eshleman JR, Goggins M, Jaffee EM, Iacobuzio-Donahue CA, Maitra A, Klein A, Cameron JL, Olino K, Schulick R, Winter J, Vogelstein B, Velculescu VE, Kinzler KW, Hruban RH (April 2009). "Genetic mutations associated with cigarette smoking in pancreatic cancer". Cancer Res. 69 (8): 3681–8. doi:10.1158/0008-5472.CAN-09-0015. PMC 2669837. PMID 19351817.
  • Lowe DG, Dizhoor AM, Liu K, Gu Q, Spencer M, Laura R, Lu L, Hurley JB (June 1995). "Cloning and expression of a second photoreceptor-specific membrane retina guanylyl cyclase (RetGC), RetGC-2". Proc. Natl. Acad. Sci. U.S.A. 92 (12): 5535–9. Bibcode:1995PNAS...92.5535L. doi:10.1073/pnas.92.12.5535. PMC 41730. PMID 7777544.
  • Yang RB, Fülle HJ, Garbers DL (February 1996). "Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina". Genomics. 31 (3): 367–72. doi:10.1006/geno.1996.0060. PMID 8838319.
  • Yang RB, Garbers DL (May 1997). "Two eye guanylyl cyclases are expressed in the same photoreceptor cells and form homomers in preference to heteromers". J. Biol. Chem. 272 (21): 13738–42. doi:10.1074/jbc.272.21.13738. PMID 9153227.
  • Wood LD, Calhoun ES, Silliman N, Ptak J, Szabo S, Powell SM, Riggins GJ, Wang TL, Yan H, Gazdar A, Kern SE, Pennacchio L, Kinzler KW, Vogelstein B, Velculescu VE (October 2006). "Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers". Hum. Mutat. 27 (10): 1060–1. doi:10.1002/humu.9452. PMID 16941478. S2CID 34046523.
  • Laura RP, Hurley JB (August 1998). "The kinase homology domain of retinal guanylyl cyclases 1 and 2 specifies the affinity and cooperativity of interaction with guanylyl cyclase activating protein-2". Biochemistry. 37 (32): 11264–71. doi:10.1021/bi9809674. PMID 9698373.
  • Helten A, Säftel W, Koch KW (November 2007). "Expression level and activity profile of membrane bound guanylate cyclase type 2 in rod outer segments". J. Neurochem. 103 (4): 1439–46. doi:10.1111/j.1471-4159.2007.04923.x. PMID 17868328. S2CID 37314184.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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