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Gene

MASP2

MBL associated serine protease 2

Summary

Cytogenetic location
1p36.22
Coordinates
Chromosome 1: 11,026,523–11,047,239 (GRCh38)
Exons
11 exons across 20.7 kb
Protein
686 amino acids
Also known as
Map19, sMAP, MAP-2
Previous symbols
MASP1P1
MANE Select transcript
ENST00000400897.8NM_006610.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Other Inborn Errors of Immunity

      • Inborn error of immunity

        One of 114 genes linked to it

        Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

        • 1 GenCC submitter rates it definitive or strong
      • Immunodeficiency Disease

        One of 170 genes linked to it

        Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

        • 1 GenCC submitter rates it definitive or strong
        What knowing changes

        HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

    How MASP2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 1, with a bracket where MASP2 sits. MASP2 and 10 genes near it on chromosome 1, from 10,536,881 to 11,536,880.Chromosome 11p36.22p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4410.6 Mb10.8 Mb11 Mb11.2 Mb11.4 MbPEX14: 10,472,288–10,630,758, forward strandPEX14CASZ1: 10,636,601–10,796,658, reverse strandCASZ1CIROZ: 10,946,471–10,982,076, reverse strandCIROZTARDBP: 11,012,344–11,037,991, forward strandTARDBPMASP2: 11,026,523–11,047,239, reverse strandMASP2SRM: 11,054,584–11,060,078, reverse strandSRMEXOSC10: 11,066,613–11,099,907, reverse strandEXOSC10MTOR: 11,106,531–11,262,556, reverse strandMTORANGPTL7: 11,189,348–11,195,981, forward strandANGPTL7UBIAD1: 11,273,189–11,297,104, forward strandUBIAD1DISP3: 11,478,905–11,537,583, forward strandDISP3Diagram of MASP2: 11 exons on the reverse strand of chromosome 1Exon 9: 1 known disease-causing siteExon 11: 11,026,523–11,027,648, 1,126 basesExon 10: 11,030,176–11,030,250, 75 basesExon 9: 11,030,748–11,030,882, 135 basesExon 8: 11,034,828–11,034,906, 79 basesExon 7: 11,037,693–11,037,811, 119 basesExon 6: 11,042,875–11,043,022, 148 basesExon 5: 11,043,339–11,043,535, 197 basesExon 4: 11,045,408–11,045,539, 132 basesExon 3: 11,046,556–11,046,733, 178 basesExon 2: 11,046,891–11,047,119, 229 basesExon 1: 11,047,203–11,047,239, 37 bases1110515′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 2.5 kb of the gene's 20.7 kb; 2,061 of those bases code for the protein.

    How a genome test reads MASP2

    3

    positions in MASP2 where ClinVar classes a change as pathogenic or likely pathogenic

    1 of them (33%) falls in a region short reads find hard.

    • Segmental duplications (1 site)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

    A whole genome covers all 20.7 kb of MASP2, introns included, not only the 2.5 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). MASP2 gene: MBL associated serine protease 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/masp2

    Vancouver

    Dante Labs. MASP2 gene: MBL associated serine protease 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/masp2

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