AutismKB 2.0

Evidence Details for MAN2A2


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Basic Information Top
Gene Symbol:MAN2A2 ( MANA2X )
Gene Full Name: mannosidase, alpha, class 2A, member 2
Band: 15q25
Quick LinksEntrez ID:4122; OMIM: 600988; Uniprot ID:MA2A2_HUMAN; ENSEMBL ID: ENSG00000196547; HGNC ID: 6825
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAN2A2|4122|nucleotide
ATGAAGCTGAAAAAGCAGGTGACAGTGTGTGGGGCTGCCATCTTCTGTGTGGCAGTCTTCTCGCTCTACCTCATGCTGGACCGAGTGCAACACGATCCCACCCGA
CACCAGAATGGTGGGAACTTCCCCCGGAGCCAAATTTCTGTGCTGCAGAACCGCATTGAGCAGCTGGAGCAGCTTTTGGAGGAGAACCATGAGATTATCAGCCAT
ATCAAGGACTCCGTGCTGGAGCTGACAGCCAACGCAGAGGGCCCGCCCGCCATGCTGCCCTACTACACGGTCAATGGCTCCTGGGTGGTGCCACCGGAGCCCCGG
CCCAGCTTCTTCTCCATCTCCCCGCAGGACTGCCAGTTTGCTTTGGGGGGCCGGGGTCAGAAGCCAGAGCTGCAGATGCTCACTGTGTCGGAGGAGCTGCCGTTT
GACAACGTGGATGGTGGTGTGTGGAGGCAAGGCTTCGACATCTCCTACGACCCGCACGACTGGGATGCTGAAGACCTGCAGGTGTTTGTGGTGCCCCACTCTCAC
AATGACCCAGGCTGGATCAAGACCTTTGACAAGTACTACACAGAGCAGACCCAACACATCCTCAATAGCATGGTGTCTAAGCTGCAGGAGGACCCCCGGCGGCGC
TTCCTCTGGGCAGAGGTCTCCTTCTTCGCCAAGTGGTGGGACAACATCAATGTCCAAAAGAGAGCGGCAGTCCGAAGGCTGGTGGGAAACGGGCAGCTGGAGATT
GCGACAGGAGGCTGGGTGATGCCAGATGAGGCCAATTCCCACTACTTTGCATTGATTGACCAGCTCATCGAAGGACACCAGTGGCTGGAGAGAAATCTTGGTGCA
ACCCCCCGCTCTGGCTGGGCAGTGGACCCCTTTGGATACAGCTCCACCATGCCTTACCTGCTGCGCCGTGCCAACCTCACCAGCATGCTGATTCAGAGAGTGCAC
TATGCCATCAAGAAGCACTTTGCTGCCACCCACAGCCTAGAGTTCATGTGGAGGCAGACATGGGACTCGGACTCCAGCACAGACATCTTCTGTCACATGATGCCC
TTCTACAGCTATGACGTCCCCCATACCTGTGGCCCAGATCCCAAGATCTGCTGCCAATTTGATTTCAAACGCCTGCCTGGTGGGCGCATCAACTGCCCTTGGAAG
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>MAN2A2|4122|protein
MKLKKQVTVCGAAIFCVAVFSLYLMLDRVQHDPTRHQNGGNFPRSQISVLQNRIEQLEQLLEENHEIISHIKDSVLELTANAEGPPAMLPYYTVNGSWVVPPEPR
PSFFSISPQDCQFALGGRGQKPELQMLTVSEELPFDNVDGGVWRQGFDISYDPHDWDAEDLQVFVVPHSHNDPGWIKTFDKYYTEQTQHILNSMVSKLQEDPRRR
FLWAEVSFFAKWWDNINVQKRAAVRRLVGNGQLEIATGGWVMPDEANSHYFALIDQLIEGHQWLERNLGATPRSGWAVDPFGYSSTMPYLLRRANLTSMLIQRVH
YAIKKHFAATHSLEFMWRQTWDSDSSTDIFCHMMPFYSYDVPHTCGPDPKICCQFDFKRLPGGRINCPWKVPPRAITEANVAERAALLLDQYRKKSQLFRSNVLL
VPLGDDFRYDKPQEWDAQFFNYQRLFDFFNSRPNLHVQAQFGTLSDYFDALYKRTGVEPGARPPGFPVLSGDFFSYADREDHYWTGYYTSRPFYKSLDRVLEAHL
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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) 1 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (4)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top