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MASP2 mannan binding lectin serine peptidase 2 [ Homo sapiens (human) ]

Gene ID: 10747, updated on 1-Aug-2020

Summary

Official Symbol
MASP2provided by HGNC
Official Full Name
mannan binding lectin serine peptidase 2provided by HGNC
Primary source
HGNC:HGNC:6902
See related
Ensembl:ENSG00000009724 MIM:605102
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
sMAP; MAP19; MASP-2; MASP1P1
Summary
This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Expression
Biased expression in liver (RPKM 26.8), bone marrow (RPKM 2.7) and 7 other tissues See more
Orthologs

Genomic context

See MASP2 in Genome Data Viewer
Location:
1p36.22
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (11026523..11047239, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11086580..11107296, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chromosome 1 open reading frame 127 Neighboring gene cofilin 1 pseudogene 6 Neighboring gene TAR DNA binding protein Neighboring gene spermidine synthase Neighboring gene exosome component 10 Neighboring gene EXOSC10 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
calcium-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
complement component C4b binding IDA
Inferred from Direct Assay
more info
PubMed 
peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
complement activation TAS
Traceable Author Statement
more info
 
complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
 
complement activation, lectin pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
complement activation, lectin pathway IDA
Inferred from Direct Assay
more info
PubMed 
complement activation, lectin pathway TAS
Traceable Author Statement
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
mannan-binding lectin serine protease 2
Names
MBL-associated plasma protein of 19 kD
MBL-associated serine protease 2
mannan-binding lectin serine peptidase 1 pseudogene 1
mannan-binding lectin serine protease 1 pseudogene 1
mannose-binding protein-associated serine protease 2
small MBL-associated protein
NP_006601.2
NP_631947.1
XP_016855586.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007289.2 RefSeqGene

    Range
    4990..25706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006610.4NP_006601.2  mannan-binding lectin serine protease 2 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_006601.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript and encodes isoform 1 which activates complement component 4.
    Source sequence(s)
    AK290823, Y09926
    Consensus CDS
    CCDS123.1
    UniProtKB/Swiss-Prot
    O00187
    Related
    ENSP00000383690.3, ENST00000400897.8
    Conserved Domains (7) summary
    smart00020
    Location:444679
    Tryp_SPc; Trypsin-like serine protease
    smart00032
    Location:300361
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    smart00042
    Location:28134
    CUB; Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein
    smart00179
    Location:138176
    EGF_CA; Calcium-binding EGF-like domain
    cd00190
    Location:445682
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00084
    Location:366430
    Sushi; Sushi repeat (SCR repeat)
    pfam00431
    Location:184293
    CUB; CUB domain
  2. NM_139208.3NP_631947.1  mannan-binding lectin serine protease 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_631947.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also called MAp19, differs in the 3' UTR and 3' coding region compared to variant 1, resulting in a frameshift and upstream stop codon. Isoform 2 has a unique C-terminus and lacks the serine protease catalytic domain, compared to isoform 1.
    Source sequence(s)
    AB008047, DA638135, Y18281
    Consensus CDS
    CCDS124.1
    UniProtKB/Swiss-Prot
    O00187
    Related
    ENSP00000383691.3, ENST00000400898.3
    Conserved Domains (2) summary
    smart00042
    Location:28134
    CUB; Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein
    smart00179
    Location:138176
    EGF_CA; Calcium-binding EGF-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    11026523..11047239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000097.1XP_016855586.1  mannan-binding lectin serine protease 2 isoform X1

RNA

  1. XR_002958895.1 RNA Sequence

  2. XR_001736931.1 RNA Sequence

  3. XR_001736932.1 RNA Sequence

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