AutismKB 2.0

Annotation Detail for MASP2


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Basic Information Top
Gene Symbol:MASP2 ( MAP19,MASP-2,MASP1P1,sMAP )
Gene Full Name: mannan-binding lectin serine peptidase 2
Band: 1p36.22
Quick LinksEntrez ID:10747; OMIM: 605102; Uniprot ID:MASP2_HUMAN; ENSEMBL ID: ENSG00000009724; HGNC ID: 6902
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
158(3R)-3-hydroxyasparagine (Potential).
Location(AA) Modifications Resource
1583-hydroxyasparagine (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
32Phosphoserine(CDC2)HMM predict
32Phosphoserine(CAMK2)HMM predict
48Phosphothreonine(PKA)HMM predict
94PhosphoserineHMM predict
95Phosphothreonine(CK2)HMM predict
197Phosphoserine(CK2)HMM predict
197Phosphoserine(CK1)HMM predict
198Phosphoserine(MAPK)HMM predict
201Phosphotyrosine(INSR)HMM predict
275O-linkedHMM predict
410Phosphotyrosine(INSR)HMM predict
410Phosphotyrosine(Jak)HMM predict
441Phosphothreonine(PKC)HMM predict
547N-linkedHMM predict
666Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006610
  • Location:chr1 11009167-11029871
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p63 keratinocytesGSE17611 11008401 11009775 1374 80
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 11020177 11020534 357 0
CTCF CD4SISSRdata 11020177 11020534 357 0
CTCF HelaGSE12889 11020188 11020558 370 0
CTCF JurkatGSE12889 11020314 11020623 309 0
CTCF G2GSE9613 11020336 11020797 461 0
Myc K562GSE19551 11020306 11020656 350 0
Rb QuiescentGSE19898 11020368 11020477 109 0
TAFII hESGSE17917 11020220 11020569 349 0
hScc1 BcellGSE12603 11020036 11020989 953 0
hScc1 CdLSGSE12603 11020036 11020797 761 0
hScc1 G2GSE9613 11020125 11020797 672 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
191 EST chr1 11024366 11024849 75 mRNA MASP2 chr1 11020846 11041551Sense/Antisense (SA) pairs

Simple Query:


  (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