AutismKB 2.0

Evidence Details for ITPR2


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Basic Information Top
Gene Symbol:ITPR2 ( IP3R2 )
Gene Full Name: inositol 1,4,5-triphosphate receptor, type 2
Band: 12p11.23
Quick LinksEntrez ID:3709; OMIM: 600144; Uniprot ID:ITPR2_HUMAN; ENSEMBL ID: ENSG00000123104; HGNC ID: 6181
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ITPR2|3709|nucleotide
ATGACTGAGAAAATGTCCAGCTTCCTCTACATAGGGGACATCGTGTCCCTGTACGCGGAGGGCTCGGTCAACGGCTTCATCAGCACCTTGGGGTTAGTGGATGAC
AGATGTGTGGTGCACCCAGAGGCCGGGGACCTTGCCAACCCTCCCAAGAAGTTCAGAGACTGCCTTTTCAAGGTGTGCCCTATGAACAGATATTCTGCCCAGAAG
CAATATTGGAAAGCAAAGCAAGCCAAACAAGGGAACCACACCGAGGCAGCCTTGCTGAAGAAACTACAGCACGCTGCAGAACTGGAACAAAAACAAAATGAATCG
GAGAATAAGAAACTGTTGGGAGAAATTGTAAAATACAGTAATGTTATACAACTACTGCATATAAAAAGCAACAAATATCTTACTGTCAACAAGAGATTACCTGCT
TTACTGGAGAAGAATGCCATGCGTGTGTCCTTGGATGCTGCAGGAAATGAAGGGTCTTGGTTTTATATTCATCCGTTCTGGAAACTGAGAAGCGAGGGTGACAAT
ATTGTTGTAGGAGATAAAGTTGTTTTGATGCCTGTGAATGCAGGGCAGCCACTACATGCCAGCAACATAGAGCTTCTTGATAACCCAGGGTGTAAAGAGGTGAAT
GCTGTCAATTGCAACACCAGCTGGAAAATCACTTTATTCATGAAATATAGTTCCTATCGAGAGGATGTATTAAAAGGAGGGGACGTTGTTAGATTATTTCATGCG
GAACAAGAGAAGTTTTTGACTTGTGATGAATATGAGAAAAAACAGCACATTTTCCTTCGTACGACCTTGCGCCAATCAGCTACTTCTGCTACTAGTTCTAAAGCA
CTCTGGGAAATAGAGGTGGTTCATCATGACCCATGCCGTGGGGGTGCAGGACAGTGGAACAGCTTGTTCAGATTTAAGCATCTTGCAACTGGAAACTATTTAGCT
GCAGAGCTTAATCCTGATTATCGAGATGCCCAAAATGAAGGAAAAAATGTGAGAGATGGAGTCCCTCCAACTTCAAAGAAAAAACGCCAGGCAGGGGAGAAGATC
ATGTATACTTTGGTTTCAGTCCCGCATGGCAATGACATTGCATCCCTTTTTGAACTAGATGCCACAACTCTTCAGAGAGCTGACTGCCTGGTTCCAAGGAACTCA
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>ITPR2|3709|protein
MTEKMSSFLYIGDIVSLYAEGSVNGFISTLGLVDDRCVVHPEAGDLANPPKKFRDCLFKVCPMNRYSAQKQYWKAKQAKQGNHTEAALLKKLQHAAELEQKQNES
ENKKLLGEIVKYSNVIQLLHIKSNKYLTVNKRLPALLEKNAMRVSLDAAGNEGSWFYIHPFWKLRSEGDNIVVGDKVVLMPVNAGQPLHASNIELLDNPGCKEVN
AVNCNTSWKITLFMKYSSYREDVLKGGDVVRLFHAEQEKFLTCDEYEKKQHIFLRTTLRQSATSATSSKALWEIEVVHHDPCRGGAGQWNSLFRFKHLATGNYLA
AELNPDYRDAQNEGKNVRDGVPPTSKKKRQAGEKIMYTLVSVPHGNDIASLFELDATTLQRADCLVPRNSYVRLRHLCTNTWVTSTSIPIDTDEERPVMLKIGTC
QTKEDKEAFAIVSVPLSEVRDLDFANDANKVLATTVKKLENGTITQNERRFVTKLLEDLIFFVADVPNNGQEVLDVVITKPNRERQKLMREQNILAQVFGILKAP
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Evidence summary Top

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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 (3) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Soysal, 2011 - aCGH--ASD - - - - 1 - 1
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top