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MFAP2 microfibrillar associated protein 2 [ Homo sapiens (human) ]

Gene ID: 4237, updated on 26-May-2016
Official Symbol
MFAP2provided by HGNC
Official Full Name
microfibrillar associated protein 2provided by HGNC
Primary source
HGNC:HGNC:7033
See related
Ensembl:ENSG00000117122 HPRD:01137; MIM:156790; Vega:OTTHUMG00000002290
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
MAGP; MAGP1; MAGP-1
Summary
Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Orthologs
Location:
1p36.1-p35
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (16974500..16981643, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17300997..17308081, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376805 Neighboring gene transfer RNA-Asn (GTT) 4-1 Neighboring gene RNA, U1 small nuclear 2 Neighboring gene ciliary rootlet coiled-coil, rootletin Neighboring gene uncharacterized LOC105376806 Neighboring gene ATPase 13A2 Neighboring gene succinate dehydrogenase complex iron sulfur subunit B

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
NHGRI GWA Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef immunocomplexes analyzed by mass spectrometry reveal that microfibrillar-associated protein 2 (MFAP2) is a Nef-binding protein in Jurkat cells PubMed

Go to the HIV-1, Human Interaction Database

  • Elastic fibre formation, organism-specific biosystem (from REACTOME)
    Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Molecules associated with elastic fibres, organism-specific biosystem (from REACTOME)
    Molecules associated with elastic fibres, organism-specific biosystemProteins found associated with microfibrils include vitronectin (Dahlback et al. 1990), latent transforming growth factor beta-binding proteins (Kielty et al. 2002, Munger & Sheppard 2011), emilin (B...
  • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Notch signaling pathway, organism-specific biosystem
    Notch signaling pathway
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ50901

Gene Ontology Provided by GOA

Process Evidence Code Pubs
embryonic eye morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
post-embryonic eye morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
microfibril IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
microfibrillar-associated protein 2
Names
microfibril-associated glycoprotein 1

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_029688.1 RefSeqGene

    Range
    5001..12085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135247.1NP_001128719.1  microfibrillar-associated protein 2 isoform b precursor

    See identical proteins and their annotated locations for NP_001128719.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site and differs in the 5' UTR compared to variant 2. The resulting isoform (b) has the same N- and C-termini but is one aa shorter compared to isoform a. Variants 3 and 4 both encode isoform b.
    Source sequence(s)
    AK222751, AU280150, BC028033
    Consensus CDS
    CCDS44071.1
    UniProtKB/Swiss-Prot
    P55001
    Related
    ENSP00000364684, OTTHUMP00000002398, ENST00000375534, OTTHUMT00000006611
    Conserved Domains (1) summary
    pfam05507
    Location:16150
    MAGP; Microfibril-associated glycoprotein (MAGP)
  2. NM_001135248.1NP_001128720.1  microfibrillar-associated protein 2 isoform b precursor

    See identical proteins and their annotated locations for NP_001128720.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site compared to variant 2. The resulting isoform (b) has the same N- and C-termini but is one aa shorter compared to isoform a. Variants 3 and 4 both encode isoform b.
    Source sequence(s)
    AK222751, BC015039, BC028033
    Consensus CDS
    CCDS44071.1
    UniProtKB/Swiss-Prot
    P55001
    Conserved Domains (1) summary
    pfam05507
    Location:16150
    MAGP; Microfibril-associated glycoprotein (MAGP)
  3. NM_002403.3NP_002394.1  microfibrillar-associated protein 2 isoform a precursor

    See identical proteins and their annotated locations for NP_002394.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    BC015039, BC028033, DN996554
    Consensus CDS
    CCDS174.1
    UniProtKB/Swiss-Prot
    P55001
    UniProtKB/TrEMBL
    A0A024RA94
    Related
    ENSP00000364685, OTTHUMP00000002397, ENST00000375535, OTTHUMT00000006609
    Conserved Domains (1) summary
    pfam05507
    Location:1151
    MAGP; Microfibril-associated glycoprotein (MAGP)
  4. NM_017459.2NP_059453.1  microfibrillar-associated protein 2 isoform a precursor

    See identical proteins and their annotated locations for NP_059453.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2.
    Source sequence(s)
    AK222751, AU280150, BC028033
    Consensus CDS
    CCDS174.1
    UniProtKB/Swiss-Prot
    P55001
    UniProtKB/TrEMBL
    A0A024RA94
    Conserved Domains (1) summary
    pfam05507
    Location:1151
    MAGP; Microfibril-associated glycoprotein (MAGP)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    16974500..16981643 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541476.1XP_011539778.1  

    See identical proteins and their annotated locations for XP_011539778.1

    UniProtKB/Swiss-Prot
    P55001
    UniProtKB/TrEMBL
    A0A024RA94
    Conserved Domains (1) summary
    pfam05507
    Location:1151
    MAGP; Microfibril-associated glycoprotein (MAGP)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    17409311..17416419 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)