GNAT2

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Identifiers
Aliases|
External IDs| GeneCards: [1]
Orthologs
Species| Human| Mouse
Entrez| |

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UniProt| |

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RefSeq (mRNA)| |

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RefSeq (protein)| |

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Location (UCSC)| n/a| n/a
PubMed search| n/a| n/a
Wikidata
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Guanine nucleotide-binding protein G(t) subunit alpha-2 is a protein that in humans is encoded by the GNAT2 gene.[1][2]

## Contents

* 1 Function
* 2 References
* 3 Further reading
* 4 External links

## Function

[edit | edit source]

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones.[2]

## References

[edit | edit source]

1. ↑ 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.
2. ↑ 2.0 2.1 "Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2".

## Further reading

[edit | edit source]

* 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.
* 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. 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. 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. 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.
* 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.
* 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. 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. 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. 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

[edit | edit source]

* GeneReviews/NIH/NCBI/UW entry on Achromatopsia
* OMIM entries on Achromatopsia

* v
* t
* e

Intracellular signaling peptides and proteins

MAP|

* see MAP kinase pathway

Calcium|

* Intracellular calcium-sensing proteins
* Calcineurin
* Ca2+/calmodulin-dependent protein kinase

G protein|

| Heterotrimeric|

| cAMP:|

* Heterotrimeric G protein
* Gs/Gi
* Adenylate cyclase
* cAMP
* 3',5'-cyclic-AMP phosphodiesterase
* Protein kinase A

|

cGMP:|

* Transducin
* Gustducin
* Guanylate cyclase
* cGMP
* 3',5'-cyclic-GMP phosphodiesterase
* Protein kinase G

* G alpha subunit Gα
* GNAO1
* GNAI1
* GNAI2
* GNAI3
* GNAT1
* GNAT2
* GNAT3
* GNAZ
* GNAS
* GNAL
* GNAQ
* GNA11
* GNA12
* GNA13
* GNA14
* GNA15/GNA16

* G beta-gamma complex Gβ
* GNB1
* GNB2
* GNB3
* GNB4
* GNB5
* Gγ
* GNGT1
* GNGT2
* GNG2
* GNG3
* GNG4
* GNG5
* GNG7
* GNG8
* GNG10
* GNG11
* GNG12
* GNG13
* BSCL2

* G protein-coupled receptor kinase
* AMP-activated protein kinase

Monomeric|

* ARFs
* Rabs
* Ras
* HRAS
* KRAS
* NRAS
* Rhos
* Arfs
* Ran
* Rhebs
* Raps
* RGKs

Cyclin|

* Cyclin-dependent kinase inhibitor protein
* Cyclin-dependent kinase
* Cyclin

Lipid|

* Phosphoinositide phospholipase C
* Phospholipase C

Other protein kinase|

| Serine/threonine:|

* Casein kinase
* 1
* 2
* eIF-2 kinase
* EIF2AK3
* Glycogen synthase kinase
* GSK1
* GSK2
* GSK-3
* GSK3A
* GSK3B
* IκB kinase
* CHUK
* IKK2
* IKBKG
* Interleukin-1 receptor associated kinase
* IRAK1
* IRAK2
* IRAK3
* IRAK4
* Lim kinase
* LIMK1
* LIMK2
* p21-activated kinases
* PAK1
* PAK2
* PAK3
* PAK4
* Rho-associated protein kinase
* ROCK1
* ROCK2
* Ribosomal s6 kinase
* RPS6KA1

|

Tyrosine:|

* ZAP70
* Focal adhesion protein-tyrosine kinase
* PTK2
* PTK2B
* BTK

both|

* Dual-specificity kinase

Other protein phosphatase|

| Serine/threonine:|

* Protein phosphatase 2

|

Tyrosine:|

* protein tyrosine phosphatase: Receptor-like protein tyrosine phosphatase
* Sh2 domain-containing protein tyrosine phosphatase

both:|

* Dual-specificity phosphatase

Apoptosis|

* see apoptosis signaling pathway

GTP-binding protein regulators|

* see GTP-binding protein regulators

Other|

* Activating transcription factor 6
* Signal transducing adaptor protein
* I-kappa B protein
* Mucin-4
* Olfactory marker protein
* Phosphatidylethanolamine binding protein
* EDARADD
* PRKCSH

see also deficiencies of intracellular signaling peptides and proteins

* v
* t
* e

Hydrolases: acid anhydride hydrolases (EC 3.6)

3.6.1|

* Pyrophosphatase
* Inorganic
* Thiamine
* Apyrase
* Thiamine-triphosphatase

3.6.2|

* Adenylylsulfatase
* Phosphoadenylylsulfatase

3.6.3-4: ATPase|

| 3.6.3|

| Cu++ (3.6.3.4)|

* Menkes/ATP7A
* Wilson/ATP7B

|

Ca+ (3.6.3.8)|

* SERCA
* ATP2A1
* ATP2A2
* ATP2A3
* Plasma membrane
* ATP2B1
* ATP2B2
* ATP2B3
* ATP2B4
* SPCA
* ATP2C1
* ATP2C2

Na+/K+ (3.6.3.9)|

* ATP1A1
* ATP1A2
* ATP1A3
* ATP1A4
* ATP1B1
* ATP1B2
* ATP1B3
* ATP1B4

H+/K+ (3.6.3.10)|

* ATP4A

Other P-type ATPase|

* ATP8B1
* ATP10A
* ATP11B
* ATP12A
* ATP13A2
* ATP13A3

3.6.4|

* Dynein
* Kinesin
* Myosin
* Katanin

3.6.5: GTPase|

| 3.6.5.1: Heterotrimeric G protein|

* Gαs
* Gαi
* GNAI1
* GNAI2
* GNAI3
* Gαq/11
* GNAQ
* GNA11
* Gα12/13
* GNA12
* GNA13
* Transducin
* GNAT1
* GNAT2
* Gustducin
* GNAT3

|

3.6.5.2: Small GTPase > Ras superfamily|

* Rho family of GTPases: Cdc42
* CDC42
* TC10
* TCL
* RhoUV
* RhoU
* RhoV
* Rac
* Rac1
* 2
* 3
* RhoG
* RhoBTB
* 1
* 2
* RhoH
* Rho
* A
* B
* C
* Rnd
* 1
* 2
* 3
* RhoDF
* RhoF
* RhoD

* other: Ras
* HRAS
* KRAS
* NRAS
* Rab
* RAB23
* RAB27
* Arf
* ARF6
* SAR1B
* ARL13B
* ARL6
* Ran
* Rheb
* Rap
* RGK

3.6.5.3: Protein-synthesizing GTPase|

* Prokaryotic
* IF-2
* EF-Tu
* EF-G
* Eukaryotic

3.6.5.5-6: Polymerization motors|

* Dynamin
* Tubulin

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