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    MASP2 MBL associated serine protease 2 [ Homo sapiens (human) ]

    Gene ID: 10747, updated on 3-Nov-2024

    Summary

    Official Symbol
    MASP2provided by HGNC
    Official Full Name
    MBL associated serine protease 2provided by HGNC
    Primary source
    HGNC:HGNC:6902
    See related
    Ensembl:ENSG00000009724 MIM:605102; AllianceGenome:HGNC:6902
    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; MAP-2; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MASP2 in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11026523..11047239, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (10567802..10588801, complement)
    RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr1:11008047-11008548 Neighboring gene chromosome 1 open reading frame 127 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:11018518-11019287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11020057-11020826 Neighboring gene Sharpr-MPRA regulatory region 3012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 157 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 257 Neighboring gene cofilin 1 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 258 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11072454-11073421 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:11073783-11074029 Neighboring gene TAR DNA binding protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11105801-11106633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 163 Neighboring gene spermidine synthase Neighboring gene exosome component 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:11152350-11152530 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11159092-11159654 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11159655-11160215 Neighboring gene EXOSC10 antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    mannan-binding lectin serine protease 2
    Names
    MBL-associated plasma protein of 19 kD
    mannan binding lectin serine peptidase 2
    mannan-binding lectin serine peptidase 1 pseudogene 1
    mannan-binding lectin serine protease 1 pseudogene 1
    mannose-binding lectin associated protein 19
    mannose-binding lectin-associated serine protease 2
    mannose-binding protein-associated serine protease 2
    small MBL-associated protein
    NP_006601.2
    NP_631947.1
    XP_016855586.1
    XP_047295714.1
    XP_054189900.1
    XP_054189901.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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), LRG_82

    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
      A8K458, A8MWJ2, O00187, O75754, Q5TEQ5, Q5TER0, Q96QG4, Q9BZH0, Q9H498, Q9H499, Q9UBP3, Q9UC48, Q9ULC7, Q9UMV3, Q9Y270
      UniProtKB/TrEMBL
      A0A8V8TQL2
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 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

      UniProtKB/TrEMBL
      A0A8V8TQY3, A0A8V8TQY5
      Related
      ENSP00000514788.1, ENST00000700089.1
    2. XM_047439758.1XP_047295714.1  mannan-binding lectin serine protease 2 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TPN9
      Related
      ENSP00000514795.1, ENST00000700096.1

    RNA

    1. XR_001736931.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      10567802..10588801 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333925.1XP_054189900.1  mannan-binding lectin serine protease 2 isoform X1

      UniProtKB/TrEMBL
      A0A8V8TQY3
    2. XM_054333926.1XP_054189901.1  mannan-binding lectin serine protease 2 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TPN9

    RNA

    1. XR_008485877.1 RNA Sequence