AutismKB 2.0

Annotation Detail for LAMB2


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Basic Information Top
Gene Symbol:LAMB2 ( LAMS )
Gene Full Name: laminin, beta 2 (laminin S)
Band: 3p21.31
Quick LinksEntrez ID:3913; OMIM: 150325; Uniprot ID:LAMB2_HUMAN; ENSEMBL ID: ENSG00000172037; HGNC ID: 6487
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
248N-linked (GlcNAc...) (Potential).
368N-linked (GlcNAc...) (Potential).
1085N-linked (GlcNAc...) (Potential).
1249N-linked (GlcNAc...) (Potential).
1308N-linked (GlcNAc...).
1348N-linked (GlcNAc...).
1499N-linked (GlcNAc...).
Location(AA) Modifications Resource
248N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
368N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1085N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1249N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1308N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1348N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1499N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
10MethylarginineHMM predict
91S-palmitoylHMM predict
207Phosphoserine(CK1)HMM predict
248N-linkedHMM predict
271Phosphotyrosine(Syk)HMM predict
368N-linkedHMM predict
417Phosphoserine(ATM)HMM predict
425Phosphoserine(IKK)HMM predict
470S-palmitoylHMM predict
541S-palmitoylHMM predict
587Phosphothreonine(MAPK)HMM predict
591Phosphothreonine(MAPK)HMM predict
593Phosphoserine(IKK)HMM predict
607Phosphothreonine(PKC)HMM predict
706Phosphothreonine(MAPK)HMM predict
708Phosphotyrosine(SRC)HMM predict
708Phosphotyrosine(Syk)HMM predict
708Phosphotyrosine(Abl)HMM predict
743Phosphothreonine(PKC)HMM predict
747Phosphotyrosine(EGFR)HMM predict
760Phosphoserine(IKK)HMM predict
760Phosphoserine(CDC2)HMM predict
762O-linkedHMM predict
790Phosphoserine(PKA)HMM predict
874S-palmitoylHMM predict
935Phosphoserine(ATM)HMM predict
949Phosphoserine(ATM)HMM predict
949Phosphoserine(CK1)HMM predict
1039Phosphothreonine(PKA)HMM predict
1052Phosphoserine(IKK)HMM predict
1067S-palmitoylHMM predict
1085N-linkedHMM predict
1159Phosphothreonine(PKA)HMM predict
1187S-palmitoylHMM predict
1249N-linkedHMM predict
1250Phosphothreonine(PKC)HMM predict
1251O-linkedHMM predict
1251Phosphoserine(PKB)HMM predict
1251Phosphoserine(IKK)HMM predict
1308N-linkedHMM predict
1338Phosphoserine(CAMK2)HMM predict
1356O-linkedHMM predict
1359O-linkedHMM predict
1359Phosphoserine(IKK)HMM predict
1423S-palmitoylHMM predict
1485Phosphoserine(IKK)HMM predict
1485Phosphoserine(CAMK2)HMM predict
1595Phosphoserine(PKB)HMM predict
1595Phosphoserine(PKG)HMM predict
1595Phosphoserine(IKK)HMM predict
1595Phosphoserine(CAMK2)HMM predict
1635Phosphothreonine(PKA)HMM predict
1654Phosphoserine(PKG)HMM predict
1654Phosphoserine(CK2)HMM predict
1682Phosphoserine(CK2)HMM predict
1712Phosphothreonine(PKC)HMM predict
1759Phosphotyrosine(SRC)HMM predict
1794Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002292
  • Location:chr3 49133551-49145602
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 49150521 49150799 278 5058
CTCF G2GSE9613 49155942 49156418 476 10578
PHF8 293TGSE20725 49145904 49146679 775 689
RARA MCF7GSE15244 49146923 49147321 398 1520
RARA MCF7GSE15244 49148140 49148490 350 2713
TFAP2C MCF7GSE21234 49153254 49153613 359 7831
hScc1 BcellGSE12603 49147174 49148037 863 2003
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 49135180 49135676 496 0
CTCF G2GSE9613 49136211 49139033 2822 0
CTCF G2GSE9613 49143495 49143844 349 0
CTCF G2GSE9613 49144728 49145696 968 0
H3ac HepG2E 49143674 49146191 2517 0
PHF8 293TGSE20725 49144826 49145854 1028 0
TFAP2C MCF7GSE21234 49144602 49145830 1228 0
hScc1 BcellGSE12603 49137593 49138027 434 0
hScc1 BcellGSE12603 49144352 49145366 1014 0
p130 shRbQuiescentGSE19898 49144968 49145763 795 0
p130 shRbSenescentGSE19898 49145079 49145284 205 0
p130 shRbSenescentGSE19898 49145359 49145612 253 0
Validated miRNA targets Top
Cis-Nats regulation 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


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