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GNAT2 (G protein subunit alpha transducin 2)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2780
Gene nameGene Name - the full gene name approved by the HGNC.
G protein subunit alpha transducin 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GNAT2
SynonymsGene synonyms aliases
ACHM4, GNATC, HG1D
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.3
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs121434585 G>A Pathogenic Stop gained, coding sequence variant
rs146606352 T>C Likely-pathogenic Missense variant, coding sequence variant
rs397515384 C>T Conflicting-interpretations-of-pathogenicity Intron variant
rs745308973 G>A Likely-pathogenic Stop gained, coding sequence variant
rs748981899 G>A Likely-pathogenic Coding sequence variant, stop gained
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT021422 hsa-miR-9-5p Microarray 17612493
MIRT023994 hsa-miR-1-3p Proteomics;Microarray 18668037
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0001580 Process Detection of chemical stimulus involved in sensory perception of bitter taste IBA 21873635
GO:0001664 Function G protein-coupled receptor binding IBA 21873635
GO:0001750 Component Photoreceptor outer segment IBA 21873635
GO:0001750 Component Photoreceptor outer segment IDA 2534964
GO:0001750 Component Photoreceptor outer segment ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P19087
Protein name Guanine nucleotide-binding protein G(t) subunit alpha-2 (Transducin alpha-2 chain)
Protein function Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between r
PDB 6N84 , 6N85
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00503 G-alpha
13 → 343
G-protein alpha subunit
 Domain
Sequence
Sequence length 354
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Phototransduction   PLC beta mediated events
G-protein activation
Ca2+ pathway
G alpha (i) signalling events
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Achromatopsia Achromatopsia, ACHROMATOPSIA 4 rs121918344, rs267606739, rs397515360, rs121918537, rs121918538, rs786200908, rs796051871, rs121918539, rs387906401, rs267606936, rs786200909, rs786200910, rs267606934, rs267606937, rs267606935, rs786200911, rs104893612, rs104893613, rs104893614, rs104893615, rs104893616, rs104893617, rs137852608, rs104893619, rs104893620, rs104893621, rs121434585, rs2101121827, rs146640460, rs199474697, rs372006750, rs786204762, rs373862340, rs773372519, rs768345097, rs201794629, rs786204492, rs786204498, rs150115958, rs753625117, rs786205532, rs869320751, rs761357250, rs796065053, rs797045170, rs797045171, rs797045173, rs797045174, rs761129859, rs797045172, rs757470958, rs552069173, rs777509481, rs886063161, rs745557293, rs1057517388, rs1057517454, rs1057516571, rs1057516504, rs1057516825, rs1057516878, rs1057516866, rs1057517167, rs1057517052, rs1057517053, rs748993388, rs1057516791, rs1057517434, rs1057516782, rs376711003, rs1057518098, rs775796581, rs1554604525, rs1554604767, rs1554604833, rs1362472371, rs1554604851, rs1375507464, rs1554607546, rs1554607553, rs964530890, rs1554608319, rs772725807, rs1554609946, rs1554609956, rs768735888, rs773381712, rs999921351, rs373270306, rs201320564, rs1554610279, rs1554610284, rs35010099, rs1026427970, rs1554610655, rs776896038, rs372302139, rs1554610668, rs775038513, rs765574129, rs764742792, rs1385347376, rs1554611860, rs1554612145, rs1554612159, rs1554612805, rs1554612806, rs1201521544, rs1554613998, rs371318766, rs1554614024, rs1554614022, rs6471482, rs1554614038, rs1391492794, rs1174949911, rs1554614131, rs1554614157, rs1554614423, rs1554618404, rs1554618413, rs1554618417, rs1554618420, rs1052078370, rs1554619292, rs1554619303, rs1554619498, rs1554619500, rs1554619509, rs1442286151, rs1554619513, rs1554619514, rs765383904, rs200805087, rs1554888858, rs1554888861, rs1023522305, rs1554890513, rs1554888353, rs756324901, rs1554888848, rs757622521, rs1554888978, rs1554889905, rs1028838062, rs762773298, rs141386891, rs1553450762, rs138958917, rs1553450764, rs1553227755, rs745308973, rs1554609943, rs1554614402, rs1554609978, rs1554604775, rs1554607548, rs1558820471, rs1558022158, rs1558811557, rs1557917535, rs748981899, rs1557917899, rs1557918619, rs1557918635, rs1557918911, rs1403825722, rs1557920291, rs146606352, rs1557918544, rs1557918638, rs777878533, rs1558820134, rs1000861056, rs998703203, rs1585942791, rs750257554, rs374258471, rs1571134523, rs778114016, rs763041373, rs1571143590, rs1570562309, rs1574385431, rs1574390600, rs1464167194, rs1574391103, rs781227859, rs770786127, rs1586003680, rs1233466909, rs1586047969, rs766703340, rs1692739030, rs1692898861, rs371558158, rs1823261605, rs1330263985, rs1574390811, rs1692509021, rs749842881, rs1692921014, rs757167624, rs201782746, rs761969118, rs1823778696, rs1692508715, rs761554853, rs1227761587, rs201747279, rs183838250 12077706, 21107338, 12077706
Cone dystrophy Progressive cone dystrophy rs121918537, rs796051871, rs104893967, rs61750172, rs61750173, rs606231180, rs606231181, rs61755783, rs61749668, rs61753046, rs762426409, rs374805348, rs794727197, rs863224908, rs869320709, rs139027297, rs140451304, rs1238632042, rs117522010, rs1023522305, rs531851447, rs1271498710, rs1554186441, rs757622521, rs1028838062, rs1568725951, rs1564801134, rs1557918619, rs1582323732, rs1589705946, rs1589693002, rs1659954489, rs1660447204, rs1660845802, rs1692799480, rs1800113541, rs138924201, rs748084580, rs1883036406, rs1905007623, rs1589690942, rs1589704707, rs1768016995
Cone monochromatism Cone monochromatism rs104894912, rs121434621, rs104894914
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Unknown
Disease name Disease term dbSNP ID References
Color blindness Color Blindness, Red, Color Blindness, Red-Green, Color Blindness, Blue, Color Blindness, Acquired, Color blindness, Color Blindness, Inherited 12077706
Disorder of eye Disorder of eye
Dyschromatopsia Dyschromatopsia
Exotropia Exotropia

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