Evidence Details for DRD2
Basic Information Top
Gene Symbol: | DRD2 ( D2DR,D2R ) |
---|---|
Gene Full Name: | dopamine receptor D2 |
Band: | 11q23.2 |
Quick Links | Entrez ID:1813; OMIM: 126450; Uniprot ID:DRD2_HUMAN; ENSEMBL ID: ENSG00000149295; HGNC ID: 3023 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>DRD2|1813|nucleotide
ATGGATCCACTGAATCTGTCCTGGTATGATGATGATCTGGAGAGGCAGAACTGGAGCCGGCCCTTCAACGGGTCAGACGGGAAGGCGGACAGACCCCACTACAAC
TACTATGCCACACTGCTCACCCTGCTCATCGCTGTCATCGTCTTCGGCAACGTGCTGGTGTGCATGGCTGTGTCCCGCGAGAAGGCGCTGCAGACCACCACCAAC
TACCTGATCGTCAGCCTCGCAGTGGCCGACCTCCTCGTCGCCACACTGGTCATGCCCTGGGTTGTCTACCTGGAGGTGGTAGGTGAGTGGAAATTCAGCAGGATT
CACTGTGACATCTTCGTCACTCTGGACGTCATGATGTGCACGGCGAGCATCCTGAACTTGTGTGCCATCAGCATCGACAGGTACACAGCTGTGGCCATGCCCATG
CTGTACAATACGCGCTACAGCTCCAAGCGCCGGGTCACCGTCATGATCTCCATCGTCTGGGTCCTGTCCTTCACCATCTCCTGCCCACTCCTCTTCGGACTCAAT
AACGCAGACCAGAACGAGTGCATCATTGCCAACCCGGCCTTCGTGGTCTACTCCTCCATCGTCTCCTTCTACGTGCCCTTCATTGTCACCCTGCTGGTCTACATC
AAGATCTACATTGTCCTCCGCAGACGCCGCAAGCGAGTCAACACCAAACGCAGCAGCCGAGCTTTCAGGGCCCACCTGAGGGCTCCACTAAAGGGCAACTGTACT
CACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGAGGCTGCCCGGCGAGCCCAGGAGCTGGAG
ATGGAGATGCTCTCCAGCACCAGCCCACCCGAGAGGACCCGGTACAGCCCCATCCCACCCAGCCACCACCAGCTGACTCTCCCCGACCCGTCCCACCATGGTCTC
CACAGCACTCCCGACAGCCCCGCCAAACCAGAGAAGAATGGGCATGCCAAAGACCACCCCAAGATTGCCAAGATCTTTGAGATCCAGACCATGCCCAATGGCAAA
ACCCGGACCTCCCTCAAGACCATGAGCCGTAGGAAGCTCTCCCAGCAGAAGGAGAAGAAAGCCACTCAGATGCTCGCCATTGTTCTCGGCGTGTTCATCATCTGC
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ATGGATCCACTGAATCTGTCCTGGTATGATGATGATCTGGAGAGGCAGAACTGGAGCCGGCCCTTCAACGGGTCAGACGGGAAGGCGGACAGACCCCACTACAAC
TACTATGCCACACTGCTCACCCTGCTCATCGCTGTCATCGTCTTCGGCAACGTGCTGGTGTGCATGGCTGTGTCCCGCGAGAAGGCGCTGCAGACCACCACCAAC
TACCTGATCGTCAGCCTCGCAGTGGCCGACCTCCTCGTCGCCACACTGGTCATGCCCTGGGTTGTCTACCTGGAGGTGGTAGGTGAGTGGAAATTCAGCAGGATT
CACTGTGACATCTTCGTCACTCTGGACGTCATGATGTGCACGGCGAGCATCCTGAACTTGTGTGCCATCAGCATCGACAGGTACACAGCTGTGGCCATGCCCATG
CTGTACAATACGCGCTACAGCTCCAAGCGCCGGGTCACCGTCATGATCTCCATCGTCTGGGTCCTGTCCTTCACCATCTCCTGCCCACTCCTCTTCGGACTCAAT
AACGCAGACCAGAACGAGTGCATCATTGCCAACCCGGCCTTCGTGGTCTACTCCTCCATCGTCTCCTTCTACGTGCCCTTCATTGTCACCCTGCTGGTCTACATC
AAGATCTACATTGTCCTCCGCAGACGCCGCAAGCGAGTCAACACCAAACGCAGCAGCCGAGCTTTCAGGGCCCACCTGAGGGCTCCACTAAAGGGCAACTGTACT
CACCCCGAGGACATGAAACTCTGCACCGTTATCATGAAGTCTAATGGGAGTTTCCCAGTGAACAGGCGGAGAGTGGAGGCTGCCCGGCGAGCCCAGGAGCTGGAG
ATGGAGATGCTCTCCAGCACCAGCCCACCCGAGAGGACCCGGTACAGCCCCATCCCACCCAGCCACCACCAGCTGACTCTCCCCGACCCGTCCCACCATGGTCTC
CACAGCACTCCCGACAGCCCCGCCAAACCAGAGAAGAATGGGCATGCCAAAGACCACCCCAAGATTGCCAAGATCTTTGAGATCCAGACCATGCCCAATGGCAAA
ACCCGGACCTCCCTCAAGACCATGAGCCGTAGGAAGCTCTCCCAGCAGAAGGAGAAGAAAGCCACTCAGATGCTCGCCATTGTTCTCGGCGTGTTCATCATCTGC
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>DRD2|1813|protein
MDPLNLSWYDDDLERQNWSRPFNGSDGKADRPHYNYYATLLTLLIAVIVFGNVLVCMAVSREKALQTTTNYLIVSLAVADLLVATLVMPWVVYLEVVGEWKFSRI
HCDIFVTLDVMMCTASILNLCAISIDRYTAVAMPMLYNTRYSSKRRVTVMISIVWVLSFTISCPLLFGLNNADQNECIIANPAFVVYSSIVSFYVPFIVTLLVYI
KIYIVLRRRRKRVNTKRSSRAFRAHLRAPLKGNCTHPEDMKLCTVIMKSNGSFPVNRRRVEAARRAQELEMEMLSSTSPPERTRYSPIPPSHHQLTLPDPSHHGL
HSTPDSPAKPEKNGHAKDHPKIAKIFEIQTMPNGKTRTSLKTMSRRKLSQQKEKKATQMLAIVLGVFIICWLPFFITHILNIHCDCNIPPVLYSAFTWLGYVNSA
VNPIIYTTFNIEFRKAFLKILHC
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MDPLNLSWYDDDLERQNWSRPFNGSDGKADRPHYNYYATLLTLLIAVIVFGNVLVCMAVSREKALQTTTNYLIVSLAVADLLVATLVMPWVVYLEVVGEWKFSRI
HCDIFVTLDVMMCTASILNLCAISIDRYTAVAMPMLYNTRYSSKRRVTVMISIVWVLSFTISCPLLFGLNNADQNECIIANPAFVVYSSIVSFYVPFIVTLLVYI
KIYIVLRRRRKRVNTKRSSRAFRAHLRAPLKGNCTHPEDMKLCTVIMKSNGSFPVNRRRVEAARRAQELEMEMLSSTSPPERTRYSPIPPSHHQLTLPDPSHHGL
HSTPDSPAKPEKNGHAKDHPKIAKIFEIQTMPNGKTRTSLKTMSRRKLSQQKEKKATQMLAIVLGVFIICWLPFFITHILNIHCDCNIPPVLYSAFTWLGYVNSA
VNPIIYTTFNIEFRKAFLKILHC
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Evidence summary Top
Click 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 (0) | 0 (0) | 0 (0) | 2 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 14 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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 | ||||||||||
Philippe, 2002_1 | PARIS | PCR | 39 | 78 (24.36%) | AD | 16.5 (5-46) |
- - | |||
MIXED/OTHERS | ||||||||||
Hettinger JA, 2012_1 | Canada;USA | PCR | 112 | - (-) | ASD | - - |
- - |
Case Control Based Association Studies: 1
Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
CAUCASIAN | |||||||||||
Toma, 2012_1 | Spanish | SNPlex | ASD | 17 - |
- | 350 (16.86%) |
- - | ||||
MIXED/OTHERS | |||||||||||
Salem AM, 2013_1 | Egyptian | Sanger Institute miRBase | autistic | 5.2 - |
- | 30 (40.00%) |
4.5 - | - |
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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