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Aliases for MFAP3 Gene

Aliases for MFAP3 Gene

  • Microfibrillar Associated Protein 3 2 3 5

External Ids for MFAP3 Gene

Previous GeneCards Identifiers for MFAP3 Gene

  • GC05P153490
  • GC05P153447
  • GC05P153398
  • GC05P148559

Summaries for MFAP3 Gene

GeneCards Summary for MFAP3 Gene

MFAP3 (Microfibrillar Associated Protein 3) is a Protein Coding gene. Among its related pathways are Elastic fibre formation and Degradation of the extracellular matrix. An important paralog of this gene is MFAP3L.

UniProtKB/Swiss-Prot for MFAP3 Gene

  • Component of the elastin-associated microfibrils.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFAP3 Gene

Genomics for MFAP3 Gene

Regulatory Elements for MFAP3 Gene

Enhancers for MFAP3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F154001 0.6 ENCODE 22.6 -36.6 -36573 1.8 STAT1 MFAP3 FAM114A2 PIR52529
GH05F154085 0.6 ENCODE 14.5 +47.6 47614 1.6 MXI1 PKNOX1 ZNF610 SMARCA4 GLIS1 ZIC2 SP7 FAM114A2 MFAP3 GC05M154064 GALNT10
GH05F154834 0.7 Ensembl ENCODE 14.1 +796.3 796321 1.9 PKNOX1 ARNT MLX ARID4B FEZF1 ZNF2 YY1 ZNF548 FOS KLF13 CNOT8 SAP30L-AS1 MFAP3 GEMIN5 FAXDC2 MIR378H
GH05F154118 0.6 Ensembl 11.7 +80.1 80095 0.4 CTCF ZFHX2 RAD51 EGR2 MFAP3 HNRNPA3P7 HAND1 GC05M154064 GALNT10
GH05F154072 1.2 Ensembl ENCODE 11.3 +33.6 33595 0.6 CTCF TFAP4 MAX FEZF1 ZIC2 ZNF2 RAD21 RFX5 TEAD3 GLIS2 GALNT10 MFAP3 FAM114A2 GC05M154064 GC05M154066
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MFAP3 on UCSC Golden Path with GeneCards custom track

Promoters for MFAP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001294414 -6 2600 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5

Genomic Location for MFAP3 Gene

Chromosome:
5
Start:
154,038,906 bp from pter
End:
154,220,478 bp from pter
Size:
181,573 bases
Orientation:
Plus strand

Genomic View for MFAP3 Gene

Genes around MFAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFAP3 Gene

Proteins for MFAP3 Gene

  • Protein details for MFAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55082-MFAP3_HUMAN
    Recommended name:
    Microfibril-associated glycoprotein 3
    Protein Accession:
    P55082
    Secondary Accessions:
    • B2RDK0
    • B4DKA1
    • Q9NXA7

    Protein attributes for MFAP3 Gene

    Size:
    362 amino acids
    Molecular mass:
    40165 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91108.1; Type=Frameshift; Positions=238; Evidence={ECO:0000305};

    Alternative splice isoforms for MFAP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFAP3 Gene

Post-translational modifications for MFAP3 Gene

Other Protein References for MFAP3 Gene

No data available for DME Specific Peptides for MFAP3 Gene

Domains & Families for MFAP3 Gene

Gene Families for MFAP3 Gene

Protein Domains for MFAP3 Gene

Suggested Antigen Peptide Sequences for MFAP3 Gene

Graphical View of Domain Structure for InterPro Entry

P55082

UniProtKB/Swiss-Prot:

MFAP3_HUMAN :
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
Domain:
  • Contains 1 Ig-like C2-type (immunoglobulin-like) domain.
genes like me logo Genes that share domains with MFAP3: view

Function for MFAP3 Gene

Molecular function for MFAP3 Gene

GENATLAS Biochemistry:
microfibrillar associated glycoprotein 3,4.kDa,component of microfibrils in the extracellular matrix
UniProtKB/Swiss-Prot Function:
Component of the elastin-associated microfibrils.

Phenotypes for MFAP3 Gene

genes like me logo Genes that share phenotypes with MFAP3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MFAP3

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MFAP3 Gene

Localization for MFAP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFAP3 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MFAP3 Gene COMPARTMENTS Subcellular localization image for MFAP3 gene
Compartment Confidence
extracellular 5
plasma membrane 5
golgi apparatus 2
nucleus 2

Gene Ontology (GO) - Cellular Components for MFAP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MFAP3: view

Pathways & Interactions for MFAP3 Gene

genes like me logo Genes that share pathways with MFAP3: view

Pathways by source for MFAP3 Gene

Interacting Proteins for MFAP3 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000322956%0d%0a9606.ENSP00000364685%0d%0a9606.ENSP00000378957%0d%0a9606.ENSP00000345008%0d%0a9606.ENSP00000309953%0d%0a9606.ENSP00000331544%0d%0a
Selected Interacting proteins: ENSP00000322956 P55082-MFAP3_HUMAN for MFAP3 Gene via STRING IID

Gene Ontology (GO) - Biological Process for MFAP3 Gene

None

No data available for SIGNOR curated interactions for MFAP3 Gene

Transcripts for MFAP3 Gene

Unigene Clusters for MFAP3 Gene

Microfibrillar-associated protein 3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MFAP3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d
SP1:
SP2: - - -
SP3: - -
SP4: -
SP5:

Relevant External Links for MFAP3 Gene

GeneLoc Exon Structure for
MFAP3
ECgene alternative splicing isoforms for
MFAP3

Expression for MFAP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MFAP3 Gene

Protein differential expression in normal tissues from HIPED for MFAP3 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MFAP3 Gene



Protein tissue co-expression partners for MFAP3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MFAP3 Gene:

MFAP3

SOURCE GeneReport for Unigene cluster for MFAP3 Gene:

Hs.432818
genes like me logo Genes that share expression patterns with MFAP3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MFAP3 Gene

Orthologs for MFAP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MFAP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MFAP3 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia MFAP3 34 35
  • 90.7 (n)
cow
(Bos Taurus)
Mammalia MFAP3 34 35
  • 88.67 (n)
mouse
(Mus musculus)
Mammalia Mfap3 34 16 35
  • 84.2 (n)
rat
(Rattus norvegicus)
Mammalia Mfap3 34
  • 83.29 (n)
oppossum
(Monodelphis domestica)
Mammalia MFAP3 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 74 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
chicken
(Gallus gallus)
Aves MFAP3 34 35
  • 69.73 (n)
lizard
(Anolis carolinensis)
Reptilia MFAP3 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfap3 34
  • 66.32 (n)
Species where no ortholog for MFAP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • zebrafish (Danio rerio)

Evolution for MFAP3 Gene

ENSEMBL:
Gene Tree for MFAP3 (if available)
TreeFam:
Gene Tree for MFAP3 (if available)

Paralogs for MFAP3 Gene

Paralogs for MFAP3 Gene

(1) SIMAP similar genes for MFAP3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MFAP3: view

Variants for MFAP3 Gene

Sequence variations from dbSNP and Humsavar for MFAP3 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1046621 -- 154,056,178(-) AGTAT(C/T)GTGCA utr-variant-3-prime
rs1046633 -- 154,056,853(+) TATAT(C/T)TTCTA utr-variant-3-prime
rs10477089 -- 154,050,634(+) ttttG(G/T)ATTCT intron-variant
rs111407311 -- 154,055,713(+) CGATC(A/G)TCCTG utr-variant-3-prime
rs111650205 -- 154,051,213(+) CTGAA(C/G)CAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MFAP3 Gene

Variant ID Type Subtype PubMed ID
nsv508385 CNV deletion 20534489
nsv950430 CNV duplication 24416366

Variation tolerance for MFAP3 Gene

Residual Variation Intolerance Score: 67.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFAP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFAP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFAP3 Gene

Disorders for MFAP3 Gene

Relevant External Links for MFAP3

Genetic Association Database (GAD)
MFAP3
Human Genome Epidemiology (HuGE) Navigator
MFAP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFAP3

No disorders were found for MFAP3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MFAP3 Gene

Publications for MFAP3 Gene

  1. Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2. (PMID: 7782085) Abrams W.R. … Rosenbloom J. (Genomics 1995) 2 3 4 22 64
  2. Genome-wide association of BMI in African Americans. (PMID: 21701570) Ng M.C. … Bowden D.W. (Obesity (Silver Spring) 2012) 3 46 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for MFAP3 Gene

Sources for MFAP3 Gene

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