Evidence Details for GRIA3
Basic Information Top
| Gene Symbol: | GRIA3 ( GLUR-C,GLUR-K3,GLUR3,GLURC,GluA3,MRX94 ) |
|---|---|
| Gene Full Name: | glutamate receptor, ionotrophic, AMPA 3 |
| Band: | Xq25 |
| Quick Links | Entrez ID:2892; OMIM: 305915; Uniprot ID:GRIA3_HUMAN; ENSEMBL ID: ENSG00000125675; HGNC ID: 4573 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GRIA3|2892|nucleotide
ATGGCCAGGCAGAAGAAAATGGGGCAAAGCGTGCTCCGGGCGGTCTTCTTTTTAGTCCTGGGGCTTTTGGGTCATTCTCACGGAGGATTCCCCAACACCATCAGC
ATAGGTGGACTTTTCATGAGAAACACAGTGCAGGAGCACAGCGCTTTCCGCTTTGCCGTGCAGTTATACAACACCAACCAGAACACCACCGAGAAGCCCTTCCAT
TTGAATTACCACGTAGATCACTTGGATTCCTCCAATAGTTTTTCCGTGACAAATGCTTTCTGCTCCCAGTTCTCGAGAGGGGTGTATGCCATCTTTGGATTCTAT
GACCAGATGTCAATGAACACCCTGACCTCCTTCTGTGGGGCCCTGCACACATCCTTTGTTACGCCTAGCTTCCCCACTGACGCAGATGTGCAGTTTGTCATCCAG
ATGCGCCCAGCCTTGAAGGGCGCTATTCTGAGTCTTCTGGGTCATTACAAGTGGGAGAAGTTTGTGTACCTCTATGACACAGAACGAGGATTTTCCATCCTCCAA
GCGATTATGGAAGCAGCAGTGCAAAACAACTGGCAAGTAACAGCAAGGTCTGTGGGAAACATAAAGGACGTCCAAGAATTCAGGCGCATCATTGAAGAAATGGAC
AGGAGGCAGGAAAAGCGATACTTGATTGACTGCGAAGTCGAAAGGATTAACACAATTTTGGAACAGGTTGTGATCCTAGGGAAACACTCAAGAGGTTATCACTAC
ATGCTCGCTAACCTGGGTTTTACTGATATTTTACTGGAAAGAGTCATGCATGGGGGAGCCAACATTACAGGTTTCCAGATTGTCAACAATGAAAACCCTATGGTT
CAGCAGTTCATACAGCGCTGGGTGAGGCTGGATGAAAGGGAATTCCCTGAAGCCAAGAATGCACCACTAAAGTATACATCTGCATTGACACACGACGCAATACTG
GTCATAGCAGAAGCTTTCCGCTACCTGAGGAGGCAGCGAGTAGATGTGTCCCGGAGAGGAAGTGCTGGAGACTGCTTAGCAAATCCTGCTGTGCCCTGGAGTCAA
GGAATTGATATTGAGAGAGCTCTGAAAATGGTGCAAGTACAAGGAATGACTGGAAATATTCAATTTGACACTTATGGACGTAGGACAAATTATACCATCGATGTG
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ATGGCCAGGCAGAAGAAAATGGGGCAAAGCGTGCTCCGGGCGGTCTTCTTTTTAGTCCTGGGGCTTTTGGGTCATTCTCACGGAGGATTCCCCAACACCATCAGC
ATAGGTGGACTTTTCATGAGAAACACAGTGCAGGAGCACAGCGCTTTCCGCTTTGCCGTGCAGTTATACAACACCAACCAGAACACCACCGAGAAGCCCTTCCAT
TTGAATTACCACGTAGATCACTTGGATTCCTCCAATAGTTTTTCCGTGACAAATGCTTTCTGCTCCCAGTTCTCGAGAGGGGTGTATGCCATCTTTGGATTCTAT
GACCAGATGTCAATGAACACCCTGACCTCCTTCTGTGGGGCCCTGCACACATCCTTTGTTACGCCTAGCTTCCCCACTGACGCAGATGTGCAGTTTGTCATCCAG
ATGCGCCCAGCCTTGAAGGGCGCTATTCTGAGTCTTCTGGGTCATTACAAGTGGGAGAAGTTTGTGTACCTCTATGACACAGAACGAGGATTTTCCATCCTCCAA
GCGATTATGGAAGCAGCAGTGCAAAACAACTGGCAAGTAACAGCAAGGTCTGTGGGAAACATAAAGGACGTCCAAGAATTCAGGCGCATCATTGAAGAAATGGAC
AGGAGGCAGGAAAAGCGATACTTGATTGACTGCGAAGTCGAAAGGATTAACACAATTTTGGAACAGGTTGTGATCCTAGGGAAACACTCAAGAGGTTATCACTAC
ATGCTCGCTAACCTGGGTTTTACTGATATTTTACTGGAAAGAGTCATGCATGGGGGAGCCAACATTACAGGTTTCCAGATTGTCAACAATGAAAACCCTATGGTT
CAGCAGTTCATACAGCGCTGGGTGAGGCTGGATGAAAGGGAATTCCCTGAAGCCAAGAATGCACCACTAAAGTATACATCTGCATTGACACACGACGCAATACTG
GTCATAGCAGAAGCTTTCCGCTACCTGAGGAGGCAGCGAGTAGATGTGTCCCGGAGAGGAAGTGCTGGAGACTGCTTAGCAAATCCTGCTGTGCCCTGGAGTCAA
GGAATTGATATTGAGAGAGCTCTGAAAATGGTGCAAGTACAAGGAATGACTGGAAATATTCAATTTGACACTTATGGACGTAGGACAAATTATACCATCGATGTG
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>GRIA3|2892|protein
MARQKKMGQSVLRAVFFLVLGLLGHSHGGFPNTISIGGLFMRNTVQEHSAFRFAVQLYNTNQNTTEKPFHLNYHVDHLDSSNSFSVTNAFCSQFSRGVYAIFGFY
DQMSMNTLTSFCGALHTSFVTPSFPTDADVQFVIQMRPALKGAILSLLGHYKWEKFVYLYDTERGFSILQAIMEAAVQNNWQVTARSVGNIKDVQEFRRIIEEMD
RRQEKRYLIDCEVERINTILEQVVILGKHSRGYHYMLANLGFTDILLERVMHGGANITGFQIVNNENPMVQQFIQRWVRLDEREFPEAKNAPLKYTSALTHDAIL
VIAEAFRYLRRQRVDVSRRGSAGDCLANPAVPWSQGIDIERALKMVQVQGMTGNIQFDTYGRRTNYTIDVYEMKVSGSRKAGYWNEYERFVPFSDQQISNDSASS
ENRTIVVTTILESPYVMYKKNHEQLEGNERYEGYCVDLAYEIAKHVRIKYKLSIVGDGKYGARDPETKIWNGMVGELVYGRADIAVAPLTITLVREEVIDFSKPF
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MARQKKMGQSVLRAVFFLVLGLLGHSHGGFPNTISIGGLFMRNTVQEHSAFRFAVQLYNTNQNTTEKPFHLNYHVDHLDSSNSFSVTNAFCSQFSRGVYAIFGFY
DQMSMNTLTSFCGALHTSFVTPSFPTDADVQFVIQMRPALKGAILSLLGHYKWEKFVYLYDTERGFSILQAIMEAAVQNNWQVTARSVGNIKDVQEFRRIIEEMD
RRQEKRYLIDCEVERINTILEQVVILGKHSRGYHYMLANLGFTDILLERVMHGGANITGFQIVNNENPMVQQFIQRWVRLDEREFPEAKNAPLKYTSALTHDAIL
VIAEAFRYLRRQRVDVSRRGSAGDCLANPAVPWSQGIDIERALKMVQVQGMTGNIQFDTYGRRTNYTIDVYEMKVSGSRKAGYWNEYERFVPFSDQQISNDSASS
ENRTIVVTTILESPYVMYKKNHEQLEGNERYEGYCVDLAYEIAKHVRIKYKLSIVGDGKYGARDPETKIWNGMVGELVYGRADIAVAPLTITLVREEVIDFSKPF
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | Yes | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Mental retardation, X-linked 94 (300699) |
| Description | Non-syndromic X-linked ID; mutations as well as 3 cases of partial duplication of GRIA3 have been reported in patients with autism or autistic behavior |
| Reference(s) | 17568425; 19736351; 16840569; 17989220; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Jacquemont, 2006 | France | aCGH |  | | ASD | - | - | - | - | 29 | - | 29 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.