AutismKB 2.0

Evidence Details for PTH2R


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Basic Information Top
Gene Symbol:PTH2R ( PTHR2 )
Gene Full Name: parathyroid hormone 2 receptor
Band: 2q34
Quick LinksEntrez ID:5746; OMIM: 601469; Uniprot ID:PTH2R_HUMAN; ENSEMBL ID: ENSG00000144407; HGNC ID: 9609
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTH2R|5746|nucleotide
ATGGCCGGGCTGGGGGCGTCGCTCCACGTCTGGGGTTGGCTAATGCTCGGCAGCTGCCTCCTGGCCAGAGCCCAGCTGGATTCTGATGGCACCATTACTATAGAG
GAGCAGATTGTCCTTGTGCTGAAAGCGAAAGTACAATGTGAACTCAACATCACAGCTCAACTCCAGGAGGGAGAAGGTAATTGTTTCCCTGAATGGGATGGACTC
ATTTGTTGGCCCAGAGGAACAGTGGGGAAAATATCGGCTGTTCCATGCCCTCCTTATATTTATGACTTCAACCATAAAGGAGTTGCTTTCCGACACTGTAACCCC
AATGGAACATGGGATTTTATGCACAGCTTAAATAAAACATGGGCCAATTATTCAGACTGCCTTCGCTTTCTGCAGCCAGATATCAGCATAGGAAAGCAAGAATTC
TTTGAACGCCTCTATGTAATGTATACCGTTGGCTACTCCATCTCTTTTGGTTCCTTGGCTGTGGCTATTCTCATCATTGGTTACTTCAGACGATTGCATTGCACT
AGGAACTATATCCACATGCACTTATTTGTGTCTTTCATGCTGAGAGCTACAAGCATCTTTGTCAAAGACAGAGTAGTCCATGCTCACATAGGAGTAAAGGAGCTG
GAGTCCCTAATAATGCAGGATGACCCACAAAATTCCATTGAGGCAACTTCTGTGGACAAATCACAATATATCGGGTGCAAGATTGCTGTTGTGATGTTTATTTAC
TTCCTGGCTACAAATTATTATTGGATCCTGGTGGAAGGTCTCTACCTGCATAATCTCATCTTTGTGGCTTTCTTTTCGGACACCAAATACCTGTGGGGCTTCATC
TTGATAGGCTGGGGGTTTCCAGCAGCATTTGTTGCAGCATGGGCTGTGGCACGAGCAACTCTGGCTGATGCGAGGTGCTGGGAACTTAGTGCTGGAGACATCAAG
TGGATTTATCAAGCACCGATCTTAGCAGCTATTGGGCTGAATTTTATTCTGTTTCTGAATACGGTTAGAGTTCTAGCTACCAAAATCTGGGAGACCAATGCAGTT
GGGCATGACACAAGGAAGCAATACAGGAAACTGGCCAAATCGACACTGGTCCTGGTCCTAGTCTTTGGAGTGCATTACATCGTGTTCGTATGCCTGCCTCACTCC
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>PTH2R|5746|protein
MAGLGASLHVWGWLMLGSCLLARAQLDSDGTITIEEQIVLVLKAKVQCELNITAQLQEGEGNCFPEWDGLICWPRGTVGKISAVPCPPYIYDFNHKGVAFRHCNP
NGTWDFMHSLNKTWANYSDCLRFLQPDISIGKQEFFERLYVMYTVGYSISFGSLAVAILIIGYFRRLHCTRNYIHMHLFVSFMLRATSIFVKDRVVHAHIGVKEL
ESLIMQDDPQNSIEATSVDKSQYIGCKIAVVMFIYFLATNYYWILVEGLYLHNLIFVAFFSDTKYLWGFILIGWGFPAAFVAAWAVARATLADARCWELSAGDIK
WIYQAPILAAIGLNFILFLNTVRVLATKIWETNAVGHDTRKQYRKLAKSTLVLVLVFGVHYIVFVCLPHSFTGLGWEIRMHCELFFNSFQGFFVSIIYCYCNGEV
QAEVKKMWSRWNLSVDWKRTPPCGSRRCGSVLTTVTHSTSSQSQVAASTRMVLISGKAAKIASRQPDSHITLPGYVWSNSEQDCLPHSFHEETKEDSGRQGDDIL
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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 (1) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (3)
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
Pescucci, 2003 - STS mappingautism - - - - 1 - 1
Linkage Studies Top