AutismKB 2.0

Evidence Details for SLC11A2


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Basic Information Top
Gene Symbol:SLC11A2 ( DCT1,DMT1,FLJ37416,NRAMP2 )
Gene Full Name: solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2
Band: 12q13.12
Quick LinksEntrez ID:4891; OMIM: 600523; Uniprot ID:NRAM2_HUMAN; ENSEMBL ID: ENSG00000110911; HGNC ID: 10908
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC11A2|4891|nucleotide
ATGGTGCTGGGTCCTGAACAGAAGATGTCAGATGACAGTGTTTCTGGAGATCATGGGGAGTCTGCCAGTCTTGGTAACATCAACCCTGCCTATAGTAATCCCTCT
CTTTCACAGTCCCCTGGGGACTCAGAGGAGTACTTCGCCACTTACTTTAATGAGAAGATCTCCATTCCTGAGGAGGAGTACTCTTGTTTTAGCTTTCGTAAACTC
TGGGCTTTCACCGGACCAGGTTTTCTTATGAGCATTGCCTACCTGGATCCAGGAAATATTGAATCCGATTTGCAGTCTGGAGCAGTGGCTGGATTTAAGTTGCTC
TGGATCCTTCTGTTGGCCACCCTTGTGGGGCTGCTGCTCCAGCGGCTTGCAGCTAGACTGGGAGTGGTTACTGGGCTGCATCTTGCTGAAGTATGTCACCGTCAG
TATCCCAAGGTCCCACGAGTCATCCTGTGGCTGATGGTGGAGTTGGCTATCATCGGCTCAGACATGCAAGAAGTCATTGGCTCAGCCATTGCTATCAATCTTCTG
TCTGTAGGAAGAATTCCTCTGTGGGGTGGCGTTCTCATCACCATTGCAGATACTTTTGTATTTCTCTTCTTGGACAAATATGGCTTGCGGAAGCTAGAAGCATTT
TTTGGCTTTCTCATCACTATTATGGCCCTCACATTTGGATATGAGTATGTTACAGTGAAACCCAGCCAGAGCCAGGTACTCAAGGGCATGTTCGTACCATCCTGT
TCAGGCTGTCGCACTCCACAGATTGAACAGGCTGTGGGCATCGTGGGAGCTGTCATCATGCCACACAACATGTACCTGCATTCTGCCTTAGTCAAGTCTAGACAG
GTAAACCGGAACAATAAGCAGGAAGTTCGAGAAGCCAATAAGTACTTTTTCATTGAATCCTGCATTGCACTCTTTGTTTCCTTCATCATCAATGTCTTTGTTGTC
TCAGTCTTTGCTGAAGCATTTTTTGGGAAAACCAACGAGCAGGTGGTTGAAGTCTGTACAAATACCAGCAGTCCTCATGCTGGCCTCTTTCCTAAAGATAACTCG
ACACTGGCTGTGGACATCTACAAAGGGGGTGTTGTGCTGGGATGTTACTTTGGGCCTGCTGCACTCTACATTTGGGCAGTGGGGATCCTGGCTGCAGGACAGAGC
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>SLC11A2|4891|protein
MVLGPEQKMSDDSVSGDHGESASLGNINPAYSNPSLSQSPGDSEEYFATYFNEKISIPEEEYSCFSFRKLWAFTGPGFLMSIAYLDPGNIESDLQSGAVAGFKLL
WILLLATLVGLLLQRLAARLGVVTGLHLAEVCHRQYPKVPRVILWLMVELAIIGSDMQEVIGSAIAINLLSVGRIPLWGGVLITIADTFVFLFLDKYGLRKLEAF
FGFLITIMALTFGYEYVTVKPSQSQVLKGMFVPSCSGCRTPQIEQAVGIVGAVIMPHNMYLHSALVKSRQVNRNNKQEVREANKYFFIESCIALFVSFIINVFVV
SVFAEAFFGKTNEQVVEVCTNTSSPHAGLFPKDNSTLAVDIYKGGVVLGCYFGPAALYIWAVGILAAGQSSTMTGTYSGQFVMEGFLNLKWSRFARVVLTRSIAI
IPTLLVAVFQDVEHLTGMNDFLNVLQSLQLPFALIPILTFTSLRPVMSDFANGLGWRIAGGILVLIICSINMYFVVVYVRDLGHVALYVVAAVVSVAYLGFVFYL
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top