Evidence Details for GRIN2A
Basic Information Top
| Gene Symbol: | GRIN2A ( NMDAR2A,NR2A ) |
|---|---|
| Gene Full Name: | glutamate receptor, ionotropic, N-methyl D-aspartate 2A |
| Band: | 16p13.2 |
| Quick Links | Entrez ID:2903; OMIM: 138253; Uniprot ID:NMDE1_HUMAN; ENSEMBL ID: ENSG00000183454; HGNC ID: 4585 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GRIN2A|2903|nucleotide
ATGGGCAGAGTGGGCTATTGGACCCTGCTGGTGCTGCCGGCCCTTCTGGTCTGGCGCGGTCCGGCGCCGAGCGCGGCGGCGGAGAAGGGTCCCCCCGCGCTAAAT
ATTGCGGTGATGCTGGGTCACAGCCACGACGTGACAGAGCGCGAACTTCGAACACTGTGGGGCCCCGAGCAGGCGGCGGGGCTGCCCCTGGACGTGAACGTGGTA
GCTCTGCTGATGAACCGCACCGACCCCAAGAGCCTCATCACGCACGTGTGCGACCTCATGTCCGGGGCACGCATCCACGGCCTCGTGTTTGGGGACGACACGGAC
CAGGAGGCCGTAGCCCAGATGCTGGATTTTATCTCCTCCCACACCTTCGTCCCCATCTTGGGCATTCATGGGGGCGCATCTATGATCATGGCTGACAAGGATCCG
ACGTCTACCTTCTTCCAGTTTGGAGCGTCCATCCAGCAGCAAGCCACGGTCATGCTGAAGATCATGCAGGATTATGACTGGCATGTCTTCTCCCTGGTGACCACT
ATCTTCCCTGGCTACAGGGAATTCATCAGCTTCGTCAAGACCACAGTGGACAACAGCTTTGTGGGCTGGGACATGCAGAATGTGATCACACTGGACACTTCCTTT
GAGGATGCAAAGACACAAGTCCAGCTGAAGAAGATCCACTCTTCTGTCATCTTGCTCTACTGTTCCAAAGACGAGGCTGTTCTCATTCTGAGTGAGGCCCGCTCC
CTTGGCCTCACCGGGTATGATTTCTTCTGGATTGTCCCCAGCTTGGTCTCTGGGAACACGGAGCTCATCCCAAAAGAGTTTCCATCGGGACTCATTTCTGTCTCC
TACGATGACTGGGACTACAGCCTGGAGGCGAGAGTGAGGGACGGCATTGGCATCCTAACCACCGCTGCATCTTCTATGCTGGAGAAGTTCTCCTACATCCCCGAG
GCCAAGGCCAGCTGCTACGGGCAGATGGAGAGGCCAGAGGTCCCGATGCACACCTTGCACCCATTTATGGTCAATGTTACATGGGATGGCAAAGACTTATCCTTC
ACTGAGGAAGGCTACCAGGTGCACCCCAGGCTGGTGGTGATTGTGCTGAACAAAGACCGGGAATGGGAAAAGGTGGGCAAGTGGGAGAACCATACGCTGAGCCTG
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ATGGGCAGAGTGGGCTATTGGACCCTGCTGGTGCTGCCGGCCCTTCTGGTCTGGCGCGGTCCGGCGCCGAGCGCGGCGGCGGAGAAGGGTCCCCCCGCGCTAAAT
ATTGCGGTGATGCTGGGTCACAGCCACGACGTGACAGAGCGCGAACTTCGAACACTGTGGGGCCCCGAGCAGGCGGCGGGGCTGCCCCTGGACGTGAACGTGGTA
GCTCTGCTGATGAACCGCACCGACCCCAAGAGCCTCATCACGCACGTGTGCGACCTCATGTCCGGGGCACGCATCCACGGCCTCGTGTTTGGGGACGACACGGAC
CAGGAGGCCGTAGCCCAGATGCTGGATTTTATCTCCTCCCACACCTTCGTCCCCATCTTGGGCATTCATGGGGGCGCATCTATGATCATGGCTGACAAGGATCCG
ACGTCTACCTTCTTCCAGTTTGGAGCGTCCATCCAGCAGCAAGCCACGGTCATGCTGAAGATCATGCAGGATTATGACTGGCATGTCTTCTCCCTGGTGACCACT
ATCTTCCCTGGCTACAGGGAATTCATCAGCTTCGTCAAGACCACAGTGGACAACAGCTTTGTGGGCTGGGACATGCAGAATGTGATCACACTGGACACTTCCTTT
GAGGATGCAAAGACACAAGTCCAGCTGAAGAAGATCCACTCTTCTGTCATCTTGCTCTACTGTTCCAAAGACGAGGCTGTTCTCATTCTGAGTGAGGCCCGCTCC
CTTGGCCTCACCGGGTATGATTTCTTCTGGATTGTCCCCAGCTTGGTCTCTGGGAACACGGAGCTCATCCCAAAAGAGTTTCCATCGGGACTCATTTCTGTCTCC
TACGATGACTGGGACTACAGCCTGGAGGCGAGAGTGAGGGACGGCATTGGCATCCTAACCACCGCTGCATCTTCTATGCTGGAGAAGTTCTCCTACATCCCCGAG
GCCAAGGCCAGCTGCTACGGGCAGATGGAGAGGCCAGAGGTCCCGATGCACACCTTGCACCCATTTATGGTCAATGTTACATGGGATGGCAAAGACTTATCCTTC
ACTGAGGAAGGCTACCAGGTGCACCCCAGGCTGGTGGTGATTGTGCTGAACAAAGACCGGGAATGGGAAAAGGTGGGCAAGTGGGAGAACCATACGCTGAGCCTG
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>GRIN2A|2903|protein
MGRVGYWTLLVLPALLVWRGPAPSAAAEKGPPALNIAVMLGHSHDVTERELRTLWGPEQAAGLPLDVNVVALLMNRTDPKSLITHVCDLMSGARIHGLVFGDDTD
QEAVAQMLDFISSHTFVPILGIHGGASMIMADKDPTSTFFQFGASIQQQATVMLKIMQDYDWHVFSLVTTIFPGYREFISFVKTTVDNSFVGWDMQNVITLDTSF
EDAKTQVQLKKIHSSVILLYCSKDEAVLILSEARSLGLTGYDFFWIVPSLVSGNTELIPKEFPSGLISVSYDDWDYSLEARVRDGIGILTTAASSMLEKFSYIPE
AKASCYGQMERPEVPMHTLHPFMVNVTWDGKDLSFTEEGYQVHPRLVVIVLNKDREWEKVGKWENHTLSLRHAVWPRYKSFSDCEPDDNHLSIVTLEEAPFVIVE
DIDPLTETCVRNTVPCRKFVKINNSTNEGMNVKKCCKGFCIDILKKLSRTVKFTYDLYLVTNGKHGKKVNNVWNGMIGEVVYQRAVMAVGSLTINEERSEVVDFS
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MGRVGYWTLLVLPALLVWRGPAPSAAAEKGPPALNIAVMLGHSHDVTERELRTLWGPEQAAGLPLDVNVVALLMNRTDPKSLITHVCDLMSGARIHGLVFGDDTD
QEAVAQMLDFISSHTFVPILGIHGGASMIMADKDPTSTFFQFGASIQQQATVMLKIMQDYDWHVFSLVTTIFPGYREFISFVKTTVDNSFVGWDMQNVITLDTSF
EDAKTQVQLKKIHSSVILLYCSKDEAVLILSEARSLGLTGYDFFWIVPSLVSGNTELIPKEFPSGLISVSYDDWDYSLEARVRDGIGILTTAASSMLEKFSYIPE
AKASCYGQMERPEVPMHTLHPFMVNVTWDGKDLSFTEEGYQVHPRLVVIVLNKDREWEKVGKWENHTLSLRHAVWPRYKSFSDCEPDDNHLSIVTLEEAPFVIVE
DIDPLTETCVRNTVPCRKFVKINNSTNEGMNVKKCCKGFCIDILKKLSRTVKFTYDLYLVTNGKHGKKVNNVWNGMIGEVVYQRAVMAVGSLTINEERSEVVDFS
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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) | No | 1 (2) | 0 (1) | 2 (4) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 10 (9) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
Case Control Based Association Studies: 2
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| de Krom, 2008_2 | Replication | Illumina 96 Golden Gate bead array | 128 (14.06%) |  | | ASD | - (4-18) |
- | 273 (-) |
- - | ||
| de Krom, 2008_1 | Discovery | the 1536 Golden Gate bead array of Illumina (Illumina, San Diego, California). | 144 (17.36%) | | | ASD | - (4-18) |
- | 404 (-) |
- - | ||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| McCauley, 2005 | - | microsatellite-based genomic screen | |  | autism | 158 | - | 158 | - | 333 | - | - |
| Bailey, 1998 | - | microsatellite-based genomic screen | | | PDD | 99 | - | 99 | - | - | - | - |
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
| Buxbaum, 2004 | USA | microsatellite-based genomic screen | | | autism | 115 | - | 115 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 2
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Barnby, 2005_1 | IMGSAC | mass-extension assay, PCR-RFLP | 239 | - (-) | | | ASD | - - |
- - | |
| ASIAN | ||||||||||
| Yoo, 2012_1 | Korean | Illumina GoldenGateTm Assay | 151 | 151 (12.58%) | | | ASD, AP and PDD-NOS | 79.9±35.6 months - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large 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.