GNAT2

Protein-coding gene in the species Homo sapiens
GNAT2
Identifiers
AliasesGNAT2, ACHM4, GNATC, G protein subunit alpha transducin 2, HG1D
External IDsOMIM: 139340 MGI: 95779 HomoloGene: 21092 GeneCards: GNAT2
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for GNAT2
Genomic location for GNAT2
Band1p13.3Start109,603,091 bp[1]
End109,619,929 bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for GNAT2
Genomic location for GNAT2
Band3 F2.3|3 46.83 cMStart108,000,105 bp[2]
End108,008,748 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • oocyte

  • secondary oocyte

  • monocyte

  • islet of Langerhans

  • stromal cell of endometrium

  • blood

  • Achilles tendon

  • left ventricle

  • rectum

  • gallbladder
Top expressed in
  • retinal pigment epithelium

  • pineal gland

  • islet of Langerhans

  • secondary oocyte

  • Paneth cell

  • ciliary body

  • adrenal gland

  • seminal vesicula

  • iris

  • primitive streak
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • nucleotide binding
  • G-protein beta/gamma-subunit complex binding
  • signal transducer activity
  • metal ion binding
  • G protein-coupled photoreceptor activity
  • guanyl nucleotide binding
  • G protein-coupled receptor binding
  • GTPase activity
  • GTP binding
Cellular component
  • photoreceptor inner segment
  • plasma membrane
  • photoreceptor outer segment
  • heterotrimeric G-protein complex
  • photoreceptor outer segment membrane
Biological process
  • response to stimulus
  • adenylate cyclase-modulating G protein-coupled receptor signaling pathway
  • positive regulation of cytosolic calcium ion concentration
  • retinal cone cell development
  • detection of chemical stimulus involved in sensory perception of bitter taste
  • detection of light stimulus involved in visual perception
  • response to light intensity
  • signal transduction
  • visual perception
  • phototransduction
  • Wnt signaling pathway, calcium modulating pathway
  • protein folding
  • G protein-coupled receptor signaling pathway
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

2780

14686

Ensembl

ENSG00000134183

ENSMUSG00000009108

UniProt

P19087

P50149

RefSeq (mRNA)

NM_005272
NM_001377295
NM_001379232

NM_008141

RefSeq (protein)

NP_005263
NP_001364224
NP_001366161

NP_032167

Location (UCSC)Chr 1: 109.6 – 109.62 MbChr 3: 108 – 108.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Guanine nucleotide-binding protein G(t) subunit alpha-2 is a protein that in humans is encoded by the GNAT2 gene.[5][6]

Function

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phosphodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134183 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000009108 – 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. ^ Morris TA, Fong SL (Oct 1993). "Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2)". Genomics. 17 (2): 442–8. doi:10.1006/geno.1993.1345. PMID 8406495.
  6. ^ a b "Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2".

Further reading

  • Wilkie TM, Gilbert DJ, Olsen AS, et al. (1993). "Evolution of the mammalian G protein alpha subunit multigene family". Nat. Genet. 1 (2): 85–91. doi:10.1038/ng0592-85. PMID 1302014. S2CID 31888533.
  • Arshavsky VYu, Gray-Keller MP, Bownds MD (1991). "cGMP suppresses GTPase activity of a portion of transducin equimolar to phosphodiesterase in frog rod outer segments. Light-induced cGMP decreases as a putative feedback mechanism of the photoresponse". J. Biol. Chem. 266 (28): 18530–7. doi:10.1016/S0021-9258(18)55094-8. PMID 1655754.
  • Mazzoni MR, Malinski JA, Hamm HE (1991). "Structural analysis of rod GTP-binding protein, Gt. Limited proteolytic digestion pattern of Gt with four proteases defines monoclonal antibody epitope". J. Biol. Chem. 266 (21): 14072–81. doi:10.1016/S0021-9258(18)92811-5. PMID 1713215.
  • Fawzi AB, Fay DS, Murphy EA, et al. (1991). "Rhodopsin and the retinal G-protein distinguish among G-protein beta gamma subunit forms". J. Biol. Chem. 266 (19): 12194–200. doi:10.1016/S0021-9258(18)98880-0. PMID 1905716.
  • Kubo M, Hirano T, Kakinuma M (1991). "Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit". FEBS Lett. 291 (2): 245–8. doi:10.1016/0014-5793(91)81294-I. PMID 1936270. S2CID 84445060.
  • Lerea CL, Bunt-Milam AH, Hurley JB (1990). "Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina". Neuron. 3 (3): 367–76. doi:10.1016/0896-6273(89)90261-4. PMID 2534964. S2CID 2870440.
  • Blatt C, Eversole-Cire P, Cohn VH, et al. (1988). "Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human". Proc. Natl. Acad. Sci. U.S.A. 85 (20): 7642–6. Bibcode:1988PNAS...85.7642B. doi:10.1073/pnas.85.20.7642. PMC 282248. PMID 2902634.
  • Buss JE, Mumby SM, Casey PJ, et al. (1987). "Myristoylated alpha subunits of guanine nucleotide-binding regulatory proteins". Proc. Natl. Acad. Sci. U.S.A. 84 (21): 7493–7. Bibcode:1987PNAS...84.7493B. doi:10.1073/pnas.84.21.7493. PMC 299322. PMID 3118369.
  • Hirano T (1994). "[Analysis of cell specific transcription of the human cone transducin alpha subunit gene]". Hokkaido Igaku Zasshi. 68 (6): 885–93. PMID 8112713.
  • Morris TA, Fong WB, Ward MJ, et al. (1997). "Localization of upstream silencer elements involved in the expression of cone transducin alpha-subunit (GNAT2)". Invest. Ophthalmol. Vis. Sci. 38 (1): 196–206. PMID 9008644.
  • Kohl S, Baumann B, Rosenberg T, et al. (2002). "Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia". Am. J. Hum. Genet. 71 (2): 422–5. doi:10.1086/341835. PMC 379175. PMID 12077706.
  • Aligianis IA, Forshew T, Johnson S, et al. (2002). "Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)". J. Med. Genet. 39 (9): 656–60. doi:10.1136/jmg.39.9.656. PMC 1735242. PMID 12205108.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Piña AL, Baumert U, Loyer M, Koenekoop RK (2004). "A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene". Mol. Vis. 10: 265–71. PMID 15094710.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Rosenberg T, Baumann B, Kohl S, et al. (2005). "Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations". Invest. Ophthalmol. Vis. Sci. 45 (12): 4256–62. doi:10.1167/iovs.04-0317. PMID 15557429.

External links

  • GeneReviews/NIH/NCBI/UW entry on Achromatopsia
  • OMIM entries on Achromatopsia
  • v
  • t
  • e
MAP
  • see MAP kinase pathway
CalciumG protein
Heterotrimeric
cAMP:
cGMP:
Monomeric
CyclinLipidOther protein kinase
Serine/threonine:
Tyrosine:
Serine/threonine/tyrosine
Arginine
Other protein phosphatase
Serine/threonine:
Tyrosine:
both:
Apoptosis
  • see apoptosis signaling pathway
GTP-binding protein regulators
  • see GTP-binding protein regulators
Other
see also deficiencies of intracellular signaling peptides and proteins
  • v
  • t
  • e
3.6.1
3.6.2
3.6.3-4: ATPase
3.6.3
Cu++ (3.6.3.4)
Ca+ (3.6.3.8)
Na+/K+ (3.6.3.9)
H+/K+ (3.6.3.10)
  • ATP4A
Other P-type ATPase
3.6.4
3.6.5: GTPase
3.6.5.1: Heterotrimeric G protein
3.6.5.2: Small GTPase > Ras superfamily
3.6.5.3: Protein-synthesizing GTPase
3.6.5.5-6: Polymerization motors


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