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)
Triplosensitivity:
Not Yet Evaluated
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)