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MFAP2 Gene(Protein Coding)

Microfibril Associated Protein 2

GCID:
GC01M016974
GIFtS:
49
Genes Participants
UDN Logo

Aliases for MFAP2 Gene

Aliases for MFAP2 Gene

  • Microfibril Associated Protein 2 2 3 5
  • Microfibril-Associated Glycoprotein 1 3 4
  • Microfibrillar Associated Protein 2 2 3
  • MAGP-1 3 4
  • MAGP1 3 4
  • MAGP 3 4
  • Microfibril-Associated Glycoprotein-1 2
  • Microfibrillar-Associated Protein 2 3
  • MFAP-2 4

External Ids for MFAP2 Gene

Previous GeneCards Identifiers for MFAP2 Gene

  • GC01M017038
  • GC01M016341
  • GC01M016682
  • GC01M017046
  • GC01M017173
  • GC01M017300
  • GC01M015545

Summaries for MFAP2 Gene

Entrez Gene Summary for MFAP2 Gene

  • 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]

GeneCards Summary for MFAP2 Gene

MFAP2 (Microfibril Associated Protein 2) is a Protein Coding gene. Diseases associated with MFAP2 include Costello Syndrome. Among its related pathways are Canonical and Non-canonical Notch signaling and Elastic fibre formation. Gene Ontology (GO) annotations related to this gene include fibronectin binding and fibrinogen binding. An important paralog of this gene is MFAP5.

UniProtKB/Swiss-Prot for MFAP2 Gene

  • Component of the elastin-associated microfibrils.

Gene Wiki entry for MFAP2 Gene

Additional gene information for MFAP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFAP2 Gene

Genomics for MFAP2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MFAP2 Gene

Promoters and enhancers for MFAP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J016977 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 694.7 +1.5 1516 4.7 MXI1 ZIC2 ZNF48 HIC1 ZNF121 ZNF335 POLR2A ZNF143 RCOR1 FOS MFAP2 ENSG00000226526 LOC105376805 PADI3 ATP13A2 CROCCP2 LOC105376806
GH01J017011 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 32.7 -30.9 -30851 2.6 ATF1 ZFP64 ARID4B SIN3A ETS1 ZNF766 GLIS2 ZNF213 ZNF143 ZFP91 ATP13A2 MFAP2 ARHGEF19 CROCC CROCCP3 ENSG00000235241 RPL22P3 LINC01772 NBPF1 FBXO42
GH01J016902 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 28.5 +76.6 76593 4.9 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ENSG00000272426 ZBTB17 CROCC CROCCP3 ARHGEF19 RPL22P3 LINC01772 MFAP2 NECAP2 SZRD1
GH01J016348 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE 19.7 +630.7 630672 5.5 SMAD1 ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B ZNF766 CBX5 ZNF213 FBXO42 SZRD1 ZBTB17 SPEN RPL22P3 ARHGEF19 ENSG00000237938 CROCC CROCCP3 RPS16P1
GH01J016729 Enhancer 1.2 ENCODE dbSUPER 40.5 +254.1 254102 0.2 HNRNPUL1 ARNT FEZF1 GLI4 ZNF2 YY1 ETS1 GTF3C2 ZNF121 ZNF213 TRG-CCC5-1 TRV-CAC13-1 GC01P016729 ENSG00000237938 SPEN CROCC RPS16P1 CROCCP3 ARHGEF19 MFAP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFAP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MFAP2 gene promoter:
  • AREB6
  • Lmo2
  • E47
  • Brachyury
  • p53
  • ATF6

Genomic Locations for MFAP2 Gene

Genomic Locations for MFAP2 Gene
chr1:16,974,500-16,981,643
(GRCh38/hg38)
Size:
7,144 bases
Orientation:
Minus strand
chr1:17,300,997-17,308,081
(GRCh37/hg19)
Size:
7,085 bases
Orientation:
Minus strand

Genomic View for MFAP2 Gene

Genes around MFAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFAP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MFAP2 Gene

Proteins for MFAP2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MFAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55001-MFAP2_HUMAN
    Recommended name:
    Microfibrillar-associated protein 2
    Protein Accession:
    P55001
    Secondary Accessions:
    • Q53X60
    • Q5JXY0

    Protein attributes for MFAP2 Gene

    Size:
    183 amino acids
    Molecular mass:
    20826 Da
    Quaternary structure:
    • Forms a ternary complex with BGN and ELN. Interacts with FBN1 (via N-terminal domain) and FBN2.

    Alternative splice isoforms for MFAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFAP2 Gene

Protein Expression for MFAP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MFAP2 Gene

  • Forms intermolecular disulfide bonds either with other MAGP-1 molecules or with other components of the microfibrils. May form transglutaminase cross-links.
  • O-glycosylated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MFAP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for MFAP2
  • Boster Bio Antibodies for MFAP2

No data available for DME Specific Peptides for MFAP2 Gene

Domains & Families for MFAP2 Gene

Gene Families for MFAP2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for MFAP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MFAP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P55001

UniProtKB/Swiss-Prot:

MFAP2_HUMAN :
  • Belongs to the MFAP family.
Family:
  • Belongs to the MFAP family.
genes like me logo Genes that share domains with MFAP2: view

Function for MFAP2 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MFAP2 Gene

UniProtKB/Swiss-Prot Function:
Component of the elastin-associated microfibrils.
GENATLAS Biochemistry:
microfibrillar associated glycoprotein 2,component of elastin microfibrils in the extracellular matrix

Phenotypes From GWAS Catalog for MFAP2 Gene

genes like me logo Genes that share phenotypes with MFAP2: view

Animal Models for MFAP2 Gene

MGI Knock Outs for MFAP2:
  • Mfap2 Mfap2<tm1Mech>
  • Mfap2 Mfap2<tm1a(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for MFAP2

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MFAP2 Gene

Localization for MFAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFAP2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MFAP2 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for MFAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril IDA 24353434
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with MFAP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MFAP2 Gene

Pathways & Interactions for MFAP2 Gene

genes like me logo Genes that share pathways with MFAP2: view

Pathways by source for MFAP2 Gene

Gene Ontology (GO) - Biological Process for MFAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030198 extracellular matrix organization TAS --
GO:0048048 embryonic eye morphogenesis IEP 25406291
GO:0048050 post-embryonic eye morphogenesis IEP 25406291
genes like me logo Genes that share ontologies with MFAP2: view

No data available for SIGNOR curated interactions for MFAP2 Gene

Drugs & Compounds for MFAP2 Gene

Products:

  1. Drug

(3) Drugs for MFAP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MFAP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MFAP2: view

Transcripts for MFAP2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MFAP2 Gene

(4) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(192) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MFAP2 Gene

Microfibrillar-associated protein 2:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFAP2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b
SP1: - -
SP2: - -
SP3: - -
SP4:
SP5:
SP6: - - - -

Relevant External Links for MFAP2 Gene

GeneLoc Exon Structure for
MFAP2
ECgene alternative splicing isoforms for
MFAP2

Expression for MFAP2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MFAP2 Gene

mRNA expression in normal human tissues for MFAP2 Gene
mRNA expression by BioGPS for MFAP2 GenemRNA expression by GTEx for MFAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MFAP2 Gene

This gene is overexpressed in Cervix - Ectocervix (x4.2).

Protein differential expression in normal tissues from HIPED for MFAP2 Gene

This gene is overexpressed in Gallbladder (17.0), Pancreas (6.8), and Testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MFAP2 Gene



Protein tissue co-expression partners for MFAP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MFAP2 Gene:

MFAP2

SOURCE GeneReport for Unigene cluster for MFAP2 Gene:

Hs.389137
genes like me logo Genes that share expression patterns with MFAP2: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFAP2 Gene

Orthologs for MFAP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MFAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MFAP2 34 33
  • 91.8 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MFAP2 34 33
  • 89.62 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MFAP2 34 33
  • 87.25 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mfap2 16 34 33
  • 85.93 (n)
rat
(Rattus norvegicus)
 Mammalia Mfap2 33
  • 83.7 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia MFAP2 34
  • 82 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MFAP2 34 33
  • 73.48 (n)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mfap2 33
  • 64.79 (n)
MGC75763 33
African clawed frog
(Xenopus laevis)
 Amphibia mfap2-prov 33
zebrafish
(Danio rerio)
 Actinopterygii mfap2 34 33
  • 64.96 (n)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8527 33
Species where no ortholog for MFAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MFAP2 Gene

ENSEMBL:
Gene Tree for MFAP2 (if available)
TreeFam:
Gene Tree for MFAP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MFAP2: view image

Paralogs for MFAP2 Gene

Paralogs for MFAP2 Gene

(2) SIMAP similar genes for MFAP2 Gene using alignment to 1 proteins:

  • MFAP2_HUMAN

Pseudogenes.org Pseudogenes for MFAP2 Gene

genes like me logo Genes that share paralogs with MFAP2: view

Variants for MFAP2 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MFAP2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000041067 -- 16,979,759(-) C/T intron_variant
rs1000159405 -- 16,978,992(-) T/C intron_variant
rs1000317852 -- 16,978,799(-) A/C intron_variant
rs1001165953 -- 16,980,849(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001446802 -- 16,981,203(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MFAP2 Gene

Variant ID Type Subtype PubMed ID
dgv107n100 CNV gain 25217958
dgv108n100 CNV gain 25217958
dgv120n100 CNV gain 25217958
dgv92n100 CNV gain 25217958
esv2758925 CNV gain+loss 17122850
nsv1077159 CNV deletion 25765185
nsv1143440 CNV deletion 24896259
nsv428421 CNV gain+loss 18775914
nsv508947 CNV insertion 20534489
nsv834269 CNV loss 17160897
nsv834280 CNV loss 17160897
nsv954854 CNV deletion 24416366

Variation tolerance for MFAP2 Gene

Residual Variation Intolerance Score: 50% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.41; 27.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MFAP2 Gene

Human Gene Mutation Database (HGMD)
MFAP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFAP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFAP2 Gene

Disorders for MFAP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MFAP2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
costello syndrome
  • cstlo
- elite association - COSMIC cancer census association via MalaCards
Search MFAP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MFAP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MFAP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MFAP2 Gene

Publications for MFAP2 Gene

  1. Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170. (PMID: 7759096) Faraco J … Francke U (Genomics 1995) 2 3 4 22 58
  2. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M … Tobin MD (Nature genetics 2011) 3 44 58
  3. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 44 58
  4. Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. (PMID: 19182256) Krumbiegel M … Reis A (Investigative ophthalmology & visual science 2009) 3 44 58
  5. The intracellular form of human MAGP1 elicits a complex and specific transcriptional response. (PMID: 17692555) Segade F … Mecham RP (The international journal of biochemistry & cell biology 2007) 3 22 58

Products for MFAP2 Gene

Sources for MFAP2 Gene

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