AutismKB 2.0

Evidence Details for SNTG2


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Basic Information Top
Gene Symbol:SNTG2 ( G2SYN,MGC133174,SYN5 )
Gene Full Name: syntrophin, gamma 2
Band: 2p25.3
Quick LinksEntrez ID:54221; OMIM: 608715; Uniprot ID:SNTG2_HUMAN; ENSEMBL ID: ENSG00000172554; HGNC ID: 13741
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SNTG2|54221|nucleotide
ATGGGCACCGAGGGACCCCCGCCCCCGGCCGCCTCCCGCGGACGCCAGGGCTGCCTGCTGGTACCTGCGCGGACGAAAACCACTATTGCTCTGTTGTATGATGAA
GAGTCCGAAAATGCCTATGACATCCGGCTGAAGCTGACGAAAGAGGTGCTGACAATTCAGAAACAAGATGTTGTCTGTGTGGGCGGAAGCCACCAGGGCAGGAAT
CGCAGAACTGTTACACTCCGCAGACAGCCAGTTGGCGGCTTGGGCCTGAGTATAAAGGGAGGTTCTGAGCACAACGTCCCTGTCGTCATATCAAAAATATTCGAA
GACCAAGCAGCTGACCAGACAGGGATGTTGTTCGTAGGAGATGCTGTTCTCCAGGTTAATGGCATACATGTAGAAAATGCAACTCATGAAGAAGTGGTGCATCTG
CTGAGAAATGCTGGCGATGAAGTTACCATCACCGTTGAGTATCTCAGGGAAGCGCCGGCATTTCTGAAGCTCCCGTTAGGGTCCCCAGGGCCATCCAGCGACCAC
AGCAGTGGGGCCTCCTCTCCCCTCTTTGACAGCGGTTTGCATCTGAACGGAAACTCCAGTACCACAGCCCCATCGTCACCTTCCTCGCCCATAGCTAAGGACCCG
AGGTATGAGAAGCGCTGGCTGGACACCTTGTCCGTGCCTCTGTCCATGGCTCGCATCTCAAGGTACAAAGCCGGAACGGAAAAATTAAGGTGGAATGCGTTCGAG
GTGCTCGCCCTGGACGGAGTCAGCTCTGGGATCCTCCGGTTTTACACAGCCCAGGATGGCACCGACTGGCTGCGGGCGGTCTCAGCCAACATCAGGGAGCTGACA
CTTCAGAACATGAAGATGGCGAACAAATGCTGCTCTCCTTCCGACCAGGTTGTGCATATGGGGTGGGTAAATGAGAAACTCCAAGGAGCTGACTCCTCTCAAACC
TTCAGACCCAAGTTCCTAGCACTGAAGGGCCCGTCCTTCTACGTTTTCAGCACTCCTCCGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTC
TGTGAGGTGCTATTTAAAGTTCACAAGTTCTGGCTCACAGAGGACTGCTGGTTGCAAGCAAACTTGTATCTGGGTCTTCAAGATTTTGACTTTGAGGACCAGAGG
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>SNTG2|54221|protein
MGTEGPPPPAASRGRQGCLLVPARTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQPVGGLGLSIKGGSEHNVPVVISKIFE
DQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPAFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDP
RYEKRWLDTLSVPLSMARISRYKAGTEKLRWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQT
FRPKFLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSHVFNVELGSELAMWEKSFQRAT
FMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKTRVKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGF
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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 (3) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 1 (1) 14 (7)
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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Yuen RK, 2016 - WGSASD 200 - - - 200 - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2001 USA microsatellite-based genomic screenautism, PDD, Asperger syndrome 35 - 35 - - - -
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Toma C, 2014 - Illumina HiSeq 2000--ASD 10 - - 21 -
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018