AutismKB 2.0

Evidence Details for NLGN2


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Basic Information Top
Gene Symbol:NLGN2 ( KIAA1366 )
Gene Full Name: neuroligin 2
Band: 17p13.1
Quick LinksEntrez ID:57555; OMIM: 606479; Uniprot ID:NLGN2_HUMAN; ENSEMBL ID: ENSG00000169992; HGNC ID: 14290
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NLGN2|57555|nucleotide
ATGTGGCTCCTGGCGCTGTGTCTGGTGGGGCTGGCGGGGGCTCAACGCGGGGGAGGGGGTCCCGGCGGCGGCGCCCCGGGCGGCCCCGGCCTGGGCCTCGGCAGC
CTCGGCGAGGAGCGCTTCCCGGTGGTGAACACGGCCTACGGGCGAGTGCGCGGTGTGCGGCGCGAGCTCAACAACGAGATCCTGGGCCCCGTCGTGCAGTTCTTG
GGCGTGCCCTACGCCACGCCGCCCCTGGGCGCCCGCCGCTTCCAGCCGCCTGAGGCGCCCGCCTCGTGGCCCGGCGTGCGCAACGCCACCACCCTGCCGCCCGCC
TGCCCGCAGAACCTGCACGGGGCGCTGCCCGCCATCATGCTGCCTGTGTGGTTCACCGACAACTTGGAGGCGGCCGCCACCTACGTGCAGAACCAGAGCGAGGAC
TGCCTGTACCTCAACCTCTACGTGCCCACCGAGGACGGTCCGCTCACAAAAAAACGTGACGAGGCGACGCTCAATCCGCCAGACACAGATATCCGTGACCCTGGG
AAGAAGCCTGTGATGCTGTTTCTCCATGGCGGCTCCTACATGGAGGGGACCGGAAACATGTTCGATGGCTCAGTCCTGGCTGCCTATGGCAACGTCATTGTAGCC
ACGCTCAACTACCGTCTTGGGGTGCTCGGTTTTCTCAGCACCGGGGACCAGGCTGCAAAAGGCAACTATGGGCTCCTGGACCAGATCCAGGCCCTGCGCTGGCTC
AGTGAAAACATCGCCCACTTTGGGGGCGACCCCGAGCGTATCACCATCTTTGGTTCCGGGGCAGGGGCCTCCTGCGTCAACCTTCTGATCCTCTCCCACCATTCA
GAAGGGCTGTTCCAGAAGGCCATCGCCCAGAGTGGCACCGCCATTTCCAGCTGGTCTGTCAACTACCAGCCGCTCAAGTACACGCGGCTGCTGGCAGCCAAGGTG
GGCTGTGACCGAGAGGACAGCGCTGAAGCTGTGGAGTGTCTGCGCCGGAAGCCCTCCCGGGAGCTGGTGGACCAGGACGTGCAGCCTGCCCGCTACCACATCGCC
TTTGGGCCCGTGGTGGATGGCGACGTGGTCCCCGATGACCCTGAGATCCTCATGCAGCAGGGAGAATTCCTCAACTACGACATGCTCATCGGCGTCAACCAGGGA
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>NLGN2|57555|protein
MWLLALCLVGLAGAQRGGGGPGGGAPGGPGLGLGSLGEERFPVVNTAYGRVRGVRRELNNEILGPVVQFLGVPYATPPLGARRFQPPEAPASWPGVRNATTLPPA
CPQNLHGALPAIMLPVWFTDNLEAAATYVQNQSEDCLYLNLYVPTEDGPLTKKRDEATLNPPDTDIRDPGKKPVMLFLHGGSYMEGTGNMFDGSVLAAYGNVIVA
TLNYRLGVLGFLSTGDQAAKGNYGLLDQIQALRWLSENIAHFGGDPERITIFGSGAGASCVNLLILSHHSEGLFQKAIAQSGTAISSWSVNYQPLKYTRLLAAKV
GCDREDSAEAVECLRRKPSRELVDQDVQPARYHIAFGPVVDGDVVPDDPEILMQQGEFLNYDMLIGVNQGEGLKFVEDSAESEDGVSASAFDFTVSNFVDNLYGY
PEGKDVLRETIKFMYTDWADRDNGEMRRKTLLALFTDHQWVAPAVATAKLHADYQSPVYFYTFYHHCQAEGRPEWADAAHGDELPYVFGVPMVGATDLFPCNFSK
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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 (3) 1 (1) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 22 (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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lamb, 2005 - microsatellite-based genomic screenautism 207 - 207 - 420 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Krumm N, 2015 2377 1373 77 Excess of rare, inherited truncating mutations in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
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