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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. [provided by RefSeq, Jul 2008]
GNAT2 (G Protein Subunit Alpha Transducin 2) is a Protein Coding gene. Diseases associated with GNAT2 include Achromatopsia 4 and Achromatopsia. Among its related pathways are ERK Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity. An important paralog of this gene is GNAT1.
Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0001664 | G protein-coupled receptor binding | IBA | 21873635 |
GO:0003924 | GTPase activity | IEA,IBA | 21873635 |
GO:0005525 | GTP binding | NAS | 1936270 |
GO:0008020 | G protein-coupled photoreceptor activity | NAS | 2534964 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001750 | photoreceptor outer segment | IBA,ISS | -- |
GO:0001917 | photoreceptor inner segment | IBA,IDA | 2534964 |
GO:0005834 | heterotrimeric G-protein complex | NAS | 1936270 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0042622 | photoreceptor outer segment membrane | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | G-Beta Gamma Signaling |
G-Beta Gamma Signaling
.46
GHRH Signaling
.46
CRHR Pathway
.44
|
Relaxin Pathway
.37
Hedgehog Signaling in Mammals
.32
|
2 | CREB Pathway |
CREB Pathway
.68
IP3 Pathway
.68
|
Activation of PKC through GPCR
.63
Intracellular Calcium Signaling
.50
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
|
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
|
4 | Activation of cAMP-Dependent PKA |
cAMP Pathway
.77
Activation of PKA through GPCR
.71
|
PKA Signaling
.56
|
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001580 | detection of chemical stimulus involved in sensory perception of bitter taste | IBA | 21873635 |
GO:0006457 | protein folding | TAS | -- |
GO:0007165 | signal transduction | IEA | -- |
GO:0007186 | G protein-coupled receptor signaling pathway | IEA,NAS | 2534964 |
GO:0007188 | adenylate cyclase-modulating G protein-coupled receptor signaling pathway | IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
[D-Trp7,9,10]-Substance P |
|
89430-38-6 |
|
|
||
G-Protein antagonist peptide |
|
143675-79-0 |
|
|
||
Gue 1654 |
|
397290-30-1 |
|
|
||
mastoparan |
|
72093-21-1 |
|
|
||
SCH 202676 hydrobromide |
|
265980-25-4 |
|
|
Compound | Action | Cas Number |
---|---|---|
[D-Trp7,9,10]-Substance P | Inhibits M1 ACh receptor activation of Gq/11 | 89430-38-6 |
G-Protein antagonist peptide | Inhibits G protein activation by GPCRs | 143675-79-0 |
Gue 1654 | Selective inhibitor of OXE-R Gbetagamma signaling | 397290-30-1 |
Mastoparan | Activates Gi and Go | 72093-21-1 |
SCH 202676 hydrobromide | Inhibitor of ligand binding to G-protein-coupled receptors | 265980-25-4 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GNAT2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GNAT2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GNAT2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GNAT2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Gnat2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gnat2 30 |
|
||
Chicken (Gallus gallus) |
Aves | GNAT2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GNAT2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100216126 30 |
|
||
Str.15316 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | gnat2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | G-ialpha65A 32 |
|
|
|
G-oalpha47A 31 |
|
OneToMany | |||
Galpha73B 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | goa-1 31 |
|
OneToMany | |
gpa-4 32 |
|
|
|||
gpa-7 32 |
|
|
|||
odr-3 32 |
|
|
|||
gpa-3 32 |
|
|
|||
gpa-1 32 |
|
|
|||
gpa-2 32 |
|
|
|||
gpa-8 32 |
|
|
|||
gpa-15 32 |
|
|
|||
gpa-9 32 |
|
|
|||
gpa-11 32 |
|
|
|||
gpa-6 32 |
|
|
|||
gpa-10 32 |
|
|
|||
Rice (Oryza sativa) |
Liliopsida | Os.11635 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
623272 | Pathogenic: Achromatopsia 4 | 109,607,656(-) |
A/AAATTGTGGTGTAT
NM_001377295.2(GNAT2):c.303+365_461+974dup |
SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR | |
623273 | Pathogenic: Achromatopsia 4 | 109,607,656(-) |
AAATTGTGGTGTATTA
NM_005272.4(GNAT2):c.303+365_461+974del |
SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR | |
837652 | Uncertain Significance: not provided | 109,606,348(-) |
T/C NM_005272.5(GNAT2):c.550A>G (p.Ile184Val) |
MISSENSE | |
841688 | Uncertain Significance: not provided | 109,606,365(-) |
C/T NM_005272.5(GNAT2):c.533G>A (p.Arg178Lys) |
MISSENSE | |
847548 | Uncertain Significance: not provided | 109,612,809(-) |
T/C NM_005272.5(GNAT2):c.62A>G (p.Lys21Arg) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
achromatopsia 4 |
|
|
achromatopsia |
|
|
cone dystrophy |
|
|
cone-rod dystrophy 6 |
|
|
eye disease |
|
|