Evidence Details for GRIK2
Basic Information Top
| Gene Symbol: | GRIK2 ( EAA4,GLR6,GLUK6,GLUR6,MGC74427,MRT6 ) |
|---|---|
| Gene Full Name: | glutamate receptor, ionotropic, kainate 2 |
| Band: | 6q16.3 |
| Quick Links | Entrez ID:2898; OMIM: 138244; Uniprot ID:GRIK2_HUMAN; ENSEMBL ID: ENSG00000164418; HGNC ID: 4580 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GRIK2|2898|nucleotide
ATGAAGATTATTTTCCCGATTCTAAGTAATCCAGTCTTCAGGCGCACCGTTAAACTCCTGCTCTGTTTACTGTGGATTGGATATTCTCAAGGAACCACACATGTA
TTAAGATTTGGTGGTATTTTTGAATATGTGGAATCTGGCCCAATGGGAGCTGAGGAACTTGCATTCAGATTTGCTGTGAACACAATTAACAGAAACAGAACATTG
CTACCCAATACTACCCTTACCTATGATACCCAGAAGATAAACCTTTATGATAGTTTTGAAGCATCCAAGAAAGCCTGTGATCAGCTGTCTCTTGGGGTGGCTGCC
ATCTTCGGGCCTTCACACAGCTCATCAGCAAACGCAGTGCAGTCCATCTGCAATGCTCTGGGAGTTCCCCACATACAGACCCGCTGGAAGCACCAGGTGTCAGAC
AACAAAGATTCCTTCTATGTCAGTCTCTACCCAGACTTCTCTTCACTCAGCCGTGCCATTTTAGACCTGGTGCAGTTTTTCAAGTGGAAAACCGTCACGGTTGTG
TATGATGACAGCACTGGTCTCATTCGTTTGCAAGAGCTCATCAAAGCTCCATCAAGGTATAATCTTCGACTCAAAATTCGTCAGTTACCTGCTGATACAAAGGAT
GCAAAACCCTTACTAAAAGAAATGAAAAGAGGCAAGGAGTTTCATGTAATCTTTGATTGTAGCCATGAAATGGCAGCAGGCATTTTAAAACAGGCATTAGCTATG
GGAATGATGACAGAATACTATCATTATATCTTTACCACTCTGGACCTCTTTGCTCTTGATGTTGAGCCCTACCGATACAGTGGTGTTAACATGACAGGGTTCAGA
ATATTAAATACAGAAAATACCCAAGTCTCCTCCATCATTGAAAAGTGGTCGATGGAACGATTGCAGGCACCTCCGAAACCCGATTCAGGTTTGCTGGATGGATTT
ATGACGACTGATGCTGCTCTAATGTATGATGCTGTGCATGTGGTGTCTGTGGCCGTTCAACAGTTTCCCCAGATGACAGTCAGTTCCTTGCAGTGTAATCGACAT
AAACCCTGGCGCTTCGGGACCCGCTTTATGAGTCTAATTAAAGAGGCACATTGGGAAGGCCTCACAGGCAGAATAACTTTCAACAAAACCAATGGCTTGAGAACA
Show »
ATGAAGATTATTTTCCCGATTCTAAGTAATCCAGTCTTCAGGCGCACCGTTAAACTCCTGCTCTGTTTACTGTGGATTGGATATTCTCAAGGAACCACACATGTA
TTAAGATTTGGTGGTATTTTTGAATATGTGGAATCTGGCCCAATGGGAGCTGAGGAACTTGCATTCAGATTTGCTGTGAACACAATTAACAGAAACAGAACATTG
CTACCCAATACTACCCTTACCTATGATACCCAGAAGATAAACCTTTATGATAGTTTTGAAGCATCCAAGAAAGCCTGTGATCAGCTGTCTCTTGGGGTGGCTGCC
ATCTTCGGGCCTTCACACAGCTCATCAGCAAACGCAGTGCAGTCCATCTGCAATGCTCTGGGAGTTCCCCACATACAGACCCGCTGGAAGCACCAGGTGTCAGAC
AACAAAGATTCCTTCTATGTCAGTCTCTACCCAGACTTCTCTTCACTCAGCCGTGCCATTTTAGACCTGGTGCAGTTTTTCAAGTGGAAAACCGTCACGGTTGTG
TATGATGACAGCACTGGTCTCATTCGTTTGCAAGAGCTCATCAAAGCTCCATCAAGGTATAATCTTCGACTCAAAATTCGTCAGTTACCTGCTGATACAAAGGAT
GCAAAACCCTTACTAAAAGAAATGAAAAGAGGCAAGGAGTTTCATGTAATCTTTGATTGTAGCCATGAAATGGCAGCAGGCATTTTAAAACAGGCATTAGCTATG
GGAATGATGACAGAATACTATCATTATATCTTTACCACTCTGGACCTCTTTGCTCTTGATGTTGAGCCCTACCGATACAGTGGTGTTAACATGACAGGGTTCAGA
ATATTAAATACAGAAAATACCCAAGTCTCCTCCATCATTGAAAAGTGGTCGATGGAACGATTGCAGGCACCTCCGAAACCCGATTCAGGTTTGCTGGATGGATTT
ATGACGACTGATGCTGCTCTAATGTATGATGCTGTGCATGTGGTGTCTGTGGCCGTTCAACAGTTTCCCCAGATGACAGTCAGTTCCTTGCAGTGTAATCGACAT
AAACCCTGGCGCTTCGGGACCCGCTTTATGAGTCTAATTAAAGAGGCACATTGGGAAGGCCTCACAGGCAGAATAACTTTCAACAAAACCAATGGCTTGAGAACA
Show »
>GRIK2|2898|protein
MKIIFPILSNPVFRRTVKLLLCLLWIGYSQGTTHVLRFGGIFEYVESGPMGAEELAFRFAVNTINRNRTLLPNTTLTYDTQKINLYDSFEASKKACDQLSLGVAA
IFGPSHSSSANAVQSICNALGVPHIQTRWKHQVSDNKDSFYVSLYPDFSSLSRAILDLVQFFKWKTVTVVYDDSTGLIRLQELIKAPSRYNLRLKIRQLPADTKD
AKPLLKEMKRGKEFHVIFDCSHEMAAGILKQALAMGMMTEYYHYIFTTLDLFALDVEPYRYSGVNMTGFRILNTENTQVSSIIEKWSMERLQAPPKPDSGLLDGF
MTTDAALMYDAVHVVSVAVQQFPQMTVSSLQCNRHKPWRFGTRFMSLIKEAHWEGLTGRITFNKTNGLRTDFDLDVISLKEEGLEKIGTWDPASGLNMTESQKGK
PANITDSLSNRSLIVTTILEEPYVLFKKSDKPLYGNDRFEGYCIDLLRELSTILGFTYEIRLVEDGKYGAQDDANGQWNGMVRELIDHKADLAVAPLAITYVREK
Show »
MKIIFPILSNPVFRRTVKLLLCLLWIGYSQGTTHVLRFGGIFEYVESGPMGAEELAFRFAVNTINRNRTLLPNTTLTYDTQKINLYDSFEASKKACDQLSLGVAA
IFGPSHSSSANAVQSICNALGVPHIQTRWKHQVSDNKDSFYVSLYPDFSSLSRAILDLVQFFKWKTVTVVYDDSTGLIRLQELIKAPSRYNLRLKIRQLPADTKD
AKPLLKEMKRGKEFHVIFDCSHEMAAGILKQALAMGMMTEYYHYIFTTLDLFALDVEPYRYSGVNMTGFRILNTENTQVSSIIEKWSMERLQAPPKPDSGLLDGF
MTTDAALMYDAVHVVSVAVQQFPQMTVSSLQCNRHKPWRFGTRFMSLIKEAHWEGLTGRITFNKTNGLRTDFDLDVISLKEEGLEKIGTWDPASGLNMTESQKGK
PANITDSLSNRSLIVTTILEEPYVLFKKSDKPLYGNDRFEGYCIDLLRELSTILGFTYEIRLVEDGKYGAQDDANGQWNGMVRELIDHKADLAVAPLAITYVREK
Show »
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 | 0 (1) | 0 (1) | 1 (1) | 3 (5) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 8 (10) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Nord, 2011 | US | aCGH | - | - | ASD | - | - | - | - | 41 | 367 | 408 |
Linkage Studies Top