GNAI3 (G protein subunit alpha i3)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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2773 |
Gene nameGene Name - the full gene name approved by the HGNC.
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G protein subunit alpha i3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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GNAI3 |
SynonymsGene synonyms aliases
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87U6, ARCND1, ARCODS, HG1A |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p13.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alph |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs387907178 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
rs397514768 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P08754 |
Protein name |
Guanine nucleotide-binding protein G(i) subunit alpha-3 (G(i) alpha-3) |
Protein function |
Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates |
PDB |
2IHB
,
2ODE
,
2V4Z
,
4G5O
,
4G5R
,
4G5S
,
7E9H
,
7KH0
,
7RA3
,
7RGP
,
7T10
,
7T11
,
7X6I
,
8GVX
,
8JD6
,
8K9L
,
8OY1
,
8SZH
,
8SZI
,
8WGB
,
9AVL
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00503 |
G-alpha |
13 → 343 |
G-protein alpha subunit |
Domain |
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Sequence |
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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.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Auriculocondylar syndrome |
Auriculo-condylar syndrome, Auriculocondylar syndrome 1, Auriculocondylar syndrome |
rs387907178, rs397514480, rs387907179, rs397514481, rs397514482, rs397514483, rs397514768, rs397514769, rs397514770, rs397514771, rs587777231, rs587777232, rs1553223897 |
22560091, 7698751, 22560091, 27607449, 11102934 |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Macrocephaly |
Macrocephaly |
rs786204854, rs764333096, rs1557739557 |
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Ocular albinism |
Albinism, Ocular |
rs137852296, rs137852297, rs62635018, rs62645741, rs281865178, rs281865183, rs281865184, rs672601353, rs1057518841, rs1057518763, rs1057518787 |
27607449 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Amnesia |
Amnesia |
|
11350863 |
Dysgnathia complex |
Dysgnathia complex |
|
7698751 |
Glossoptosis |
Glossoptosis |
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Mental depression |
Major Depressive Disorder |
rs587778876, rs587778877 |
20125088 |
Microglossia |
Microglossia |
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Micrognathism |
Micrognathism |
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Microstomia |
Microstomia |
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Microtia |
Congenital small ears |
|
7698751 |
Periauricular skin pits |
Periauricular skin pits |
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Posteriorly rotated ear |
Posteriorly rotated ear |
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Ptosis |
Blepharoptosis, Ptosis |
rs139920573 |
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Sleep apnea |
Sleep Apnea, Obstructive |
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Vein of galen aneurysm |
Vein of Galen aneurysm |
rs148223897, rs1554688023 |
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