Evidence Details for GRIN2B


Gene Symbol: | GRIN2B ( MGC142178,MGC142180,NMDAR2B,NR2B,hNR3 ) |
---|---|
Gene Full Name: | glutamate receptor, ionotropic, N-methyl D-aspartate 2B |
Band: | 12p13.1 |
Quick Links | Entrez ID:2904; OMIM: 138252; Uniprot ID:NMDE2_HUMAN; ENSEMBL ID: ENSG00000150086; HGNC ID: 4586 |
Relate to Another Database: | SFARIGene; denovo-db |


>GRIN2B|2904|nucleotide
ATGAAGCCCAGAGCGGAGTGCTGTTCTCCCAAGTTCTGGTTGGTGTTGGCCGTCCTGGCCGTGTCAGGCAGCAGAGCTCGTTCTCAGAAGAGCCCCCCCAGCATT
GGCATTGCTGTCATCCTCGTGGGCACTTCCGACGAGGTGGCCATCAAGGATGCCCACGAGAAAGATGATTTCCACCATCTCTCCGTGGTACCCCGGGTGGAACTG
GTAGCCATGAATGAGACCGACCCAAAGAGCATCATCACCCGCATCTGTGATCTCATGTCTGACCGGAAGATCCAGGGGGTGGTGTTTGCTGATGACACAGACCAG
GAAGCCATCGCCCAGATCCTCGATTTCATTTCAGCACAGACTCTCACCCCCATCCTGGGCATCCACGGGGGCTCCTCTATGATAATGGCAGATAAGGATGAATCC
TCCATGTTCTTCCAGTTTGGCCCATCAATTGAACAGCAAGCTTCCGTAATGCTCAACATCATGGAAGAATATGACTGGTACATCTTTTCTATCGTCACCACCTAT
TTCCCTGGCTACCAGGACTTTGTAAACAAGATCCGCAGCACCATTGAGAATAGCTTTGTGGGCTGGGAGCTAGAGGAGGTCCTCCTACTGGACATGTCCCTGGAC
GATGGAGATTCTAAGATCCAGAATCAGCTCAAGAAACTTCAAAGCCCCATCATTCTTCTTTACTGTACCAAGGAAGAAGCCACCTACATCTTTGAAGTGGCCAAC
TCAGTAGGGCTGACTGGCTATGGCTACACGTGGATCGTGCCCAGTCTGGTGGCAGGGGATACAGACACAGTGCCTGCGGAGTTCCCCACTGGGCTCATCTCTGTA
TCATATGATGAATGGGACTATGGCCTCCCCGCCAGAGTGAGAGATGGAATTGCCATAATCACCACTGCTGCTTCTGACATGCTGTCTGAGCACAGCTTCATCCCT
GAGCCCAAAAGCAGTTGTTACAACACCCACGAGAAGAGAATCTACCAGTCCAATATGCTAAATAGGTATCTGATCAATGTCACTTTTGAGGGGAGGAATTTGTCC
TTCAGTGAAGATGGCTACCAGATGCACCCGAAACTGGTGATAATTCTTCTGAACAAGGAGAGGAAGTGGGAAAGGGTGGGGAAGTGGAAAGACAAGTCCCTGCAG
Show »
ATGAAGCCCAGAGCGGAGTGCTGTTCTCCCAAGTTCTGGTTGGTGTTGGCCGTCCTGGCCGTGTCAGGCAGCAGAGCTCGTTCTCAGAAGAGCCCCCCCAGCATT
GGCATTGCTGTCATCCTCGTGGGCACTTCCGACGAGGTGGCCATCAAGGATGCCCACGAGAAAGATGATTTCCACCATCTCTCCGTGGTACCCCGGGTGGAACTG
GTAGCCATGAATGAGACCGACCCAAAGAGCATCATCACCCGCATCTGTGATCTCATGTCTGACCGGAAGATCCAGGGGGTGGTGTTTGCTGATGACACAGACCAG
GAAGCCATCGCCCAGATCCTCGATTTCATTTCAGCACAGACTCTCACCCCCATCCTGGGCATCCACGGGGGCTCCTCTATGATAATGGCAGATAAGGATGAATCC
TCCATGTTCTTCCAGTTTGGCCCATCAATTGAACAGCAAGCTTCCGTAATGCTCAACATCATGGAAGAATATGACTGGTACATCTTTTCTATCGTCACCACCTAT
TTCCCTGGCTACCAGGACTTTGTAAACAAGATCCGCAGCACCATTGAGAATAGCTTTGTGGGCTGGGAGCTAGAGGAGGTCCTCCTACTGGACATGTCCCTGGAC
GATGGAGATTCTAAGATCCAGAATCAGCTCAAGAAACTTCAAAGCCCCATCATTCTTCTTTACTGTACCAAGGAAGAAGCCACCTACATCTTTGAAGTGGCCAAC
TCAGTAGGGCTGACTGGCTATGGCTACACGTGGATCGTGCCCAGTCTGGTGGCAGGGGATACAGACACAGTGCCTGCGGAGTTCCCCACTGGGCTCATCTCTGTA
TCATATGATGAATGGGACTATGGCCTCCCCGCCAGAGTGAGAGATGGAATTGCCATAATCACCACTGCTGCTTCTGACATGCTGTCTGAGCACAGCTTCATCCCT
GAGCCCAAAAGCAGTTGTTACAACACCCACGAGAAGAGAATCTACCAGTCCAATATGCTAAATAGGTATCTGATCAATGTCACTTTTGAGGGGAGGAATTTGTCC
TTCAGTGAAGATGGCTACCAGATGCACCCGAAACTGGTGATAATTCTTCTGAACAAGGAGAGGAAGTGGGAAAGGGTGGGGAAGTGGAAAGACAAGTCCCTGCAG
Show »
>GRIN2B|2904|protein
MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTDQ
EAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLD
DGDSKIQNQLKKLQSPIILLYCTKEEATYIFEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIP
EPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHPKLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVE
SVDPLSGTCMRNTVPCQKRIVTENKTDEEPGYIKKCCKGFCIDILKKISKSVKFTYDLYLVTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDF
Show »
MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTDQ
EAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLD
DGDSKIQNQLKKLQSPIILLYCTKEEATYIFEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIP
EPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHPKLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVE
SVDPLSGTCMRNTVPCQKRIVTENKTDEEPGYIKKCCKGFCIDILKKISKSVKFTYDLYLVTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDF
Show »


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) | 3 (9) | 0 (0) | 1 (2) | 1 (1) | 52 (15) |










Family Based Association Studies: 1
Reference | Source | Platform | #Families | Affecteds | Result | |||||
---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
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: 2
Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
MIXED/OTHERS | |||||||||||
Poot M, 2014_1 | Unknown | Illumina Infinium HumanHap300 Genotyping BeadChip SNP arrays | ![]() | ![]() | ASD | - - |
- | 117 (-) |
- 20-49? | ||
Pan Y, 2015_1 | China | ABI 3100/3130 DNA analyzer | ![]() | ![]() | autistic disorder | - - |
- | 286 (-) |
- - | ||
Pan Y, 2015_1 | China | ABI 3100/3130 DNA analyzer | ![]() | ![]() | autistic disorder | - - |
- | 286 (-) |
- - | - |




Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
O'Roak BJ, 2011 | - | 20 | 21 | Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. |
O'Roak BJ, 2012 | 2446 | - | 46 | Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. |
O'Roak BJ, 2014 | 3486 | - | 59 | Recurrent de novo mutations implicate novel genes underlying simplex autism risk. |
Wang T, 2016 | 1543 | 1045 | 54 | De novo genic mutations among a Chinese autism spectrum disorder cohort |
Stessman HA, 2017 | 6342 | - | 74 | Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development |
Trujillano D, 2017 | 5 | - | 5 | Clinical exome sequencing: results from 2819 samples reflecting 1000 families. |
Nilsson D, 2017 | 8 | - | 17 | Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially |




Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Takasaki Y, 2016 | Japan | 3130xL Genetic Analyzer | - | - | ASD | - | - | - | 152 | - |
Wang T, 2016 | China | Illumina HiSeq 2000 | ![]() | ![]() | ASD | 1045 | - | - | 1543 | PCR and Sanger sequencing |


Contact 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.