AutismKB 2.0

Evidence Details for PGLYRP2


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Basic Information Top
Gene Symbol:PGLYRP2 ( HMFT0141,PGLYRPL,PGRP-L,PGRPL,TAGL-like,tagL,tagL-alpha,tagl-beta )
Gene Full Name: peptidoglycan recognition protein 2
Band: 19p13.12
Quick LinksEntrez ID:114770; OMIM: 608199; Uniprot ID:PGRP2_HUMAN; ENSEMBL ID: ENSG00000161031; HGNC ID: 30013
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PGLYRP2|114770|nucleotide
ATGGCCCAGGGTGTCCTCTGGATCCTACTCGGATTGCTACTGTGGTCAGACCCAGGGACAGCCTCCCTGCCCCTGCTCATGGACTCTGTCATCCAGGCCCTGGCT
GAGCTGGAGCAGAAAGTGCCAGCTGCCAAGACCAGACACACAGCTTCTGCGTGGCTGATGTCAGCTCCAAACTCTGGCCCCCACAATCGCCTCTACCACTTCCTG
CTGGGGGCATGGAGCCTCAATGCTACAGAGTTGGATCCCTGCCCACTAAGCCCAGAGCTGTTAGGCCTGACCAAGGAGGTGGCCCGACATGACGTACGAGAAGGG
AAGGAATATGGGGTGGTGCTGGCACCTGATGGCTCGACCGTGGCTGTGGAGCCTCTGCTGGCGGGGCTGGAGGCAGGGCTGCAAGGGCGCAGGGTCATAAATTTG
CCCTTGGACAGCATGGCTGCCCCTTGGGAGACTGGAGATACCTTTCCAGATGTTGTGGCCATTGCTCCAGATGTAAGAGCCACCTCCTCCCCAGGACTCAGGGAT
GGCTCTCCAGATGTCACCACTGCAGATATTGGAGCCAACACTCCAGATGCTACAAAAGGCTGTCCAGATGTCCAAGCTTCCTTGCCAGATGCCAAAGCCAAGTCC
CCACCGACCATGGTGGACAGCCTCCTGGCAGTCACCCTGGCTGGAAACCTGGGCCTGACCTTCCTCCGAGGTTCCCAGACCCAGAGCCATCCAGACCTGGGAACT
GAGGGCTGCTGGGACCAGCTCTCTGCCCCTCGGACCTTTACGCTTTTGGACCCCAAGGCATCTCTGTTAACCATGGCCTTCCTCAATGGCGCCCTGGATGGGGTC
ATCCTTGGAGACTACCTGAGCCGGACTCCTGAGCCCCGGCCATCCCTCAGCCACTTGCTGAGCCAGTACTATGGGGCTGGGGTGGCCAGAGACCCAGGGTTCCGC
AGCAACTTCCGACGGCAGAACGGTGCTGCTCTGACTTCAGCCTCCATCCTGGCCCAGCAGGTGTGGGGAACCCTTGTCCTTCTACAGAGGCTGGAGCCAGTACAC
CTCCAGCTTCAGTGCATGAGCCAAGAACAGCTGGCCCAGGTGGCTGCCAATGCTACCAAGGAATTCACTGAGGCCTTCCTGGGATGCCCGGCCATCCACCCCCGC
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>PGLYRP2|114770|protein
MAQGVLWILLGLLLWSDPGTASLPLLMDSVIQALAELEQKVPAAKTRHTASAWLMSAPNSGPHNRLYHFLLGAWSLNATELDPCPLSPELLGLTKEVARHDVREG
KEYGVVLAPDGSTVAVEPLLAGLEAGLQGRRVINLPLDSMAAPWETGDTFPDVVAIAPDVRATSSPGLRDGSPDVTTADIGANTPDATKGCPDVQASLPDAKAKS
PPTMVDSLLAVTLAGNLGLTFLRGSQTQSHPDLGTEGCWDQLSAPRTFTLLDPKASLLTMAFLNGALDGVILGDYLSRTPEPRPSLSHLLSQYYGAGVARDPGFR
SNFRRQNGAALTSASILAQQVWGTLVLLQRLEPVHLQLQCMSQEQLAQVAANATKEFTEAFLGCPAIHPRCRWGAAPYRGRPKLLQLPLGFLYVHHTYVPAPPCT
DFTRCAANMRSMQRYHQDTQGWGDIGYSFVVGSDGYVYEGRGWHWVGAHTLGHNSRGFGVAIVGNYTAALPTEAALRTVRDTLPSCAVRAGLLRPDYALLGHRQL
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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 (2) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
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
Philippe, 1999 Sweden, France, Norway, Italy, Austria, Belgium, U microsatellite-based genomic screenautism 51 - 51 - - - -
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 0
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
No Evidence.
Proteomics Studies:1
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
Corbett, 2007_1 USA blood liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS) 69
(15.94%)
ASD 35
(17.14%)
NGS de novo Mutation Studies Top
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