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

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: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (11026523..11047239, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (10567802..10588801, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (11086580..11107296, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lectin Pathway Enzyme MASP-2 and Downstream Complement Activation in COVID-19.
Title: Lectin Pathway Enzyme MASP-2 and Downstream Complement Activation in COVID-19.
MASP2 inhibition by narsoplimab suppresses endotheliopathies characteristic of transplant-associated thrombotic microangiopathy: in vitro and ex vivo evidence.
Title: MASP2 inhibition by narsoplimab suppresses endotheliopathies characteristic of transplant-associated thrombotic microangiopathy: in vitro and ex vivo evidence.
Mannose-binding lectin gene 2 variant DD (rs 5030737) is associated with susceptibility to COVID-19 infection in the urban population of Patna City (India).
Title: Mannose-binding lectin gene 2 variant DD (rs 5030737) is associated with susceptibility to COVID-19 infection in the urban population of Patna City (India).
l-ficolin-MASP arm of the complement system in schizophrenia.
Title: l-ficolin-MASP arm of the complement system in schizophrenia.
Ficolin-3 and MASP-2 gene variants in Siberian arctic populations: Summarized evidence of selective pressure for the high frequency of lectin complement pathway deficiency.
Title: Ficolin-3 and MASP-2 gene variants in Siberian arctic populations: Summarized evidence of selective pressure for the high frequency of lectin complement pathway deficiency.
Mannan-binding lectin serine protease-2 (MASP-2) in human kidney and its relevance for proteolytic activation of the epithelial sodium channel.
Title: Mannan-binding lectin serine protease-2 (MASP-2) in human kidney and its relevance for proteolytic activation of the epithelial sodium channel.
Mannose binding lectin-associated serine protease 2 (MASP2) gene polymorphism and susceptibility to human T-lymphotropic virus type 1 (HTLV-1) infection in blood donors from Mashhad, Iran.
Title: Mannose binding lectin-associated serine protease 2 (MASP2) gene polymorphism and susceptibility to human T-lymphotropic virus type 1 (HTLV-1) infection in blood donors from Mashhad, Iran.
Significance of Mannan Binding Lectin-Associated Serine Protease 2 in Urinary Extracellular Vesicles in IgA Nephropathy.
Title: Significance of Mannan Binding Lectin-Associated Serine Protease 2 in Urinary Extracellular Vesicles in IgA Nephropathy.
High Levels of Complement Activating Enzyme MASP-2 Are Associated With the Risk of Future Incident Venous Thromboembolism.
Title: High Levels of Complement Activating Enzyme MASP-2 Are Associated With the Risk of Future Incident Venous Thromboembolism.
Synergy of protease-binding sites within the ecotin homodimer is crucial for inhibition of MASP enzymes and for blocking lectin pathway activation.
Title: Synergy of protease-binding sites within the ecotin homodimer is crucial for inhibition of MASP enzymes and for blocking lectin pathway activation.

Submit: New GeneRIF Correction See all GeneRIFs (102)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Immunodeficiency due to MASP-2 deficiency MedGen: C3151085 OMIM: 613791 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 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 more info	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

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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

EC 3.4.21.104

NP_631947.1

EC 3.4.21.104

XP_016855586.1

EC 3.4.21.104

XP_047295714.1

EC 3.4.21.104

XP_054189900.1

EC 3.4.21.104

XP_054189901.1

EC 3.4.21.104

NCBI Reference Sequences (RefSeq)

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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

NG_007289.2 RefSeqGene

Range

4990..25706

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_82

mRNA and Protein(s)

NM_006610.4 → NP_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:444 → 679

Tryp_SPc; Trypsin-like serine protease

smart00032
Location:300 → 361

CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)

smart00042
Location:28 → 134

CUB; Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein

smart00179
Location:138 → 176

EGF_CA; Calcium-binding EGF-like domain

cd00190
Location:445 → 682

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:366 → 430

Sushi; Sushi repeat (SCR repeat)

pfam00431
Location:184 → 293

CUB; CUB domain
NM_139208.3 → NP_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:28 → 134

CUB; Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein

smart00179
Location:138 → 176

EGF_CA; Calcium-binding EGF-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

11026523..11047239 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A8V8TQY3, A0A8V8TQY5

Related

ENSP00000514788.1, ENST00000700089.1
XM_047439758.1 → XP_047295714.1 mannan-binding lectin serine protease 2 isoform X2

UniProtKB/TrEMBL

A0A8V8TPN9

Related

ENSP00000514795.1, ENST00000700096.1

RNA

XR_001736931.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

10567802..10588801 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A8V8TQY3
XM_054333926.1 → XP_054189901.1 mannan-binding lectin serine protease 2 isoform X2

UniProtKB/TrEMBL

A0A8V8TPN9