AutismKB 2.0

Evidence Details for SLC47A2


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Basic Information Top
Gene Symbol:SLC47A2 ( FLJ31196,MATE2,MATE2-B,MATE2-K,MATE2K )
Gene Full Name: solute carrier family 47, member 2
Band: 17p11.2
Quick LinksEntrez ID:146802; OMIM: 609833; Uniprot ID:S47A2_HUMAN; ENSEMBL ID: ENSG00000180638; HGNC ID: 26439
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC47A2|146802|nucleotide
ATGGACAGCCTCCAGGACACAGTGGCCCTGGACCATGGGGGCTGCTGCCCTGCCCTCAGCAGGCTGGTTCCCAGAGGCTTTGGGACTGAGATGTGGACTCTCTTT
GCCCTTTCTGGACCCCTGTTCCTGTTCCAGGTGCTGACTTTTATGATCTACATCGTGAGCACTGTGTTCTGCGGGCACCTGGGCAAGGTGGAGCTGGCATCGGTG
ACCCTCGCGGTGGCCTTTGTCAATGTCTGCGGAGTTTCTGTAGGAGTTGGTTTGTCTTCGGCATGTGACACCTTGATGTCTCAGAGCTTCGGCAGCCCCAACAAG
AAGCACGTGGGCGTGATCCTGCAGCGGGGCGCGCTGGTCCTGCTCCTCTGCTGCCTCCCTTGCTGGGCGCTCTTCCTCAACACCCAGCACATCCTGCTGCTCTTC
CGGCAGGACCCGGACGTGTCCAGGTTGACCCAGGACTATGTAATGATTTTCATTCCAGGACTTCCGGTGATTTTTCTTTACAATCTGCTGGCAAAATATTTGCAA
AATCAGAAGATCACCTGGCCCCAAGTCCTCAGTGGTGTGGTGGGCAACTGTGTCAACGGTGTGGCCAACTATGCCCTGGTTTCTGTGCTGAACCTGGGGGTCAGG
GGCTCCGCCTATGCCAACATCATCTCCCAGTTTGCACAGACCGTCTTCCTCCTTCTCTACATTGTGCTGAAGAAGCTGCACCTGGAGACGTGGGCAGGTTGGTCC
AGCCAGTGCCTGCAGGACTGGGGCCCCTTCTTCTCCCTGGCTGTCCCCAGCATGCTCATGATCTGTGTTGAGTGGTGGGCCTATGAGATCGGGAGCTTCCTCATG
GGGCTGCTCAGTGTGGTGGATCTCTCTGCCCAGGCTGTCATCTACGAGGTGGCCACTGTGACCTACATGATTCCCTTGGGGCTCAGCATCGGGGTCTGTGTCCGA
GTGGGGATGGCTCTGGGGGCTGCGGATACTGTGCAGGCCAAGCGCTCGGCCGTCTCGGGCGTGCTCAGCATAGTTGGCATTTCCCTGGTCCTGGGCACCCTGATA
AGCATCCTGAAAAATCAGCTGGGGCATATTTTTACCAATGATGAAGATGTCATTGCCCTGGTGAGCCAGGTCTTGCCGGTTTATAGTGTCTTTCACGTGTTTGAG
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>SLC47A2|146802|protein
MDSLQDTVALDHGGCCPALSRLVPRGFGTEMWTLFALSGPLFLFQVLTFMIYIVSTVFCGHLGKVELASVTLAVAFVNVCGVSVGVGLSSACDTLMSQSFGSPNK
KHVGVILQRGALVLLLCCLPCWALFLNTQHILLLFRQDPDVSRLTQDYVMIFIPGLPVIFLYNLLAKYLQNQKITWPQVLSGVVGNCVNGVANYALVSVLNLGVR
GSAYANIISQFAQTVFLLLYIVLKKLHLETWAGWSSQCLQDWGPFFSLAVPSMLMICVEWWAYEIGSFLMGLLSVVDLSAQAVIYEVATVTYMIPLGLSIGVCVR
VGMALGAADTVQAKRSAVSGVLSIVGISLVLGTLISILKNQLGHIFTNDEDVIALVSQVLPVYSVFHVFEAICCVYGGVLRGTGKQAFGAAVNAITYYIIGLPLG
ILLTFVVRMRIMGLWLGMLACVFLATAAFVAYTARLDWKLAAEEAKKHSGRQQQQRAESTATRPGPEKAVLSSVATGSSPGITLTTYSRSECHVDFFRTPEEAHA
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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 (5) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
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
Potocki, 2007 - aCGHautism - - - - 1 - 1
Nakamine, 2008 Costa Rica SNP microarrayautsim - - - - 1 - 1
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top