MASP2
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MASP2 (HGNC:6902) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
MBL associated serine protease 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MASP1P1
Alias symbols
Map19, sMAP, MAP-2
%HI
72.87(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.16(Read more about gnomAD LOEUF score)
Cytoband
1p36.22
Genomic Coordinates
GRCh37/hg19: chr1:11086580-11107296 NCBI Ensembl UCSC
GRCh38/hg38: chr1:11026523-11047239 NCBI Ensembl UCSC
MANE Select Transcript
NM_006610.4 ENST00000400897.8 (Read more about MANE Select)
Function
Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase. {ECO:0000269|PubMed:10946292}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-4313
ClinGen Curation ID:
CCID:007437
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • immunodeficiency due to MASP-2 deficiency Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)