MFAP2 microfibril associated protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MFAP2provided by HGNC
Official Full Name: microfibril associated protein 2provided by HGNC
Primary source: HGNC:HGNC:7033
See related: Ensembl:ENSG00000117122 MIM:156790; AllianceGenome:HGNC:7033
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]
Expression: Broad expression in endometrium (RPKM 22.6), gall bladder (RPKM 22.5) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (16974502..16981583, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (16784929..16792008, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (17300997..17308078, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MAGP1 maintains tumorigenicity and angiogenesis of laryngeal cancer by activating Wnt/beta-catenin/MMP7 pathway.
Title: MAGP1 maintains tumorigenicity and angiogenesis of laryngeal cancer by activating Wnt/β-catenin/MMP7 pathway.
MFAP2 promotes the progression of oral squamous cell carcinoma by activating the Wnt/beta-catenin signaling pathway through autophagy.
Title: MFAP2 promotes the progression of oral squamous cell carcinoma by activating the Wnt/β-catenin signaling pathway through autophagy.
MFAP2 aggravates tumor progression through activating FOXM1/beta-catenin-mediated glycolysis in ovarian cancer.
Title: MFAP2 aggravates tumor progression through activating FOXM1/β-catenin-mediated glycolysis in ovarian cancer.
MFAP2 Promotes the Proliferation of Cancer Cells and Is Associated With a Poor Prognosis in Hepatocellular Carcinoma.
Title: MFAP2 Promotes the Proliferation of Cancer Cells and Is Associated With a Poor Prognosis in Hepatocellular Carcinoma.
Decreased Levels of Microfibril-Associated Glycoprotein (MAGP)-1 in Patients with Colon Cancer and Obesity Are Associated with Changes in Extracellular Matrix Remodelling.
Title: Decreased Levels of Microfibril-Associated Glycoprotein (MAGP)-1 in Patients with Colon Cancer and Obesity Are Associated with Changes in Extracellular Matrix Remodelling.
Genome-Scale Analysis Identified NID2, SPARC, and MFAP2 as Prognosis Markers of Overall Survival in Gastric Cancer.
Title: Genome-Scale Analysis Identified NID2, SPARC, and MFAP2 as Prognosis Markers of Overall Survival in Gastric Cancer.
Integrated profiling identifies SLC5A6 and MFAP2 as novel diagnostic and prognostic biomarkers in gastric cancer patients.
Title: Integrated profiling identifies SLC5A6 and MFAP2 as novel diagnostic and prognostic biomarkers in gastric cancer patients.
Data show that MAGP-1, component of the extracellular matrix interact with fibrillin and impart unique biological properties that influence microfibril function. Mutations in MAGP-1 have been linked to thoracic aneurysms and metabolic diseases and mice lacking either one have defects in multiple organ systems, reflecting the widespread distribution of microfibrils in vertebrate tissues. [review]
Title: Microfibril-associated glycoproteins MAGP-1 and MAGP-2 in disease.
Our characterization of alternative forms of MAGP2 present in the extracellular space not only enhances diversity of this ECM protein but also provides a previously unrecognized molecular mechanism for regulation of MAGP2 biological activity.
Title: Identification of a functional proprotein convertase cleavage site in microfibril-associated glycoprotein 2.
Decreased MFAP2 gene expression in the endometrium of patients with implantation failure after in vitro ertilization treatment.
Title: NLF2 gene expression in the endometrium of patients with implantation failure after IVF treatment.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH64188 (e-PCR)
- UniSTS:82199

RH79126 (e-PCR)
- UniSTS:53070

SHGC-74283 (e-PCR)
- UniSTS:9395

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables fibrinogen binding	IEA Inferred from Electronic Annotation more info
enables fibronectin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in embryonic eye morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic eye morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in platelet formation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in post-embryonic eye morphogenesis	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in microfibril	IBA Inferred from Biological aspect of Ancestor more info
located_in microfibril	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: microfibrillar-associated protein 2

Names: microfibril-associated glycoprotein 1; microfibrillar associated protein 2

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_029688.1 RefSeqGene

Range

5967..12085

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135247.2 → NP_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

Conserved Domains (1) summary

pfam05507
Location:75 → 150

MAGP; Microfibril-associated glycoprotein (MAGP)
NM_001135248.2 → NP_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

Related

ENSP00000364684.3, ENST00000375534.7

Conserved Domains (1) summary

pfam05507
Location:75 → 150

MAGP; Microfibril-associated glycoprotein (MAGP)
NM_002403.4 → NP_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)

BC028033, DN996554

Consensus CDS

CCDS174.1

UniProtKB/Swiss-Prot

P55001, Q53X60, Q5JXY0

Related

ENSP00000364685.3, ENST00000375535.4

Conserved Domains (1) summary

pfam05507
Location:4 → 151

MAGP; Microfibril-associated glycoprotein (MAGP)
NM_017459.3 → NP_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, Q53X60, Q5JXY0

Conserved Domains (1) summary

pfam05507
Location:4 → 151

MAGP; Microfibril-associated glycoprotein (MAGP)