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Aliases for MFAP3 Gene

Aliases for MFAP3 Gene

  • Microfibril Associated Protein 3 2 3 5
  • Microfibrillar Associated Protein 3 2

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 (Microfibril 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.

Additional gene information for MFAP3 Gene

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

Genomics for MFAP3 Gene

GeneHancer (GH) Regulatory Elements for MFAP3 Gene

Promoters and enhancers for MFAP3 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
GH05I154037 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.1 -61 2.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 FAM114A2 MFAP3 PIR52529
GH05I154834 Enhancer 1.5 Ensembl ENCODE dbSUPER 14.1 +796.2 796176 1.7 PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 ZNF2 YY1 ZNF766 ZNF213 CNOT8 SAP30L-AS1 LARP1 MFAP3 GEMIN5 FAM114A2 FAXDC2 MIR378H
GH05I154001 Enhancer 0.6 Ensembl ENCODE 22.7 -36.6 -36572 1.8 STAT1 ZSCAN5C GABPA MFAP3 FAM114A2 PIR52529
GH05I154072 Enhancer 1 Ensembl ENCODE 11.3 +33.6 33594 0.6 RB1 FEZF1 ZNF2 RAD21 RFX5 GLIS2 ZNF213 ARID2 SCRT2 ZNF143 GC05M154064 GALNT10 MFAP3 FAM114A2 GC05M154066
GH05I154444 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 4.6 +407.3 407332 3.3 HDGF PKNOX1 ZFP64 ARID4B SIN3A ZNF2 IRF4 YY1 POLR2B E2F8 SAP30L SAP30L-AS1 FAM114A2 GEMIN5 MFAP3 HAND1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MFAP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MFAP3 gene promoter:

Genomic Locations for MFAP3 Gene

Genomic Locations for MFAP3 Gene
chr5:154,038,906-154,220,478
(GRCh38/hg38)
Size:
181,573 bases
Orientation:
Plus strand
chr5:153,418,466-153,600,038
(GRCh37/hg19)

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for MFAP3 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MFAP3 Gene

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 From GWAS Catalog for MFAP3 Gene

Phenotypes for MFAP3 Gene

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

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
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 MFAP3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

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

Gene Ontology (GO) - Biological Process for MFAP3 Gene

None

No data available for SIGNOR curated interactions for MFAP3 Gene

Drugs & Compounds for MFAP3 Gene

No Compound Related Data Available

Transcripts for MFAP3 Gene

Unigene Clusters for MFAP3 Gene

Microfibrillar-associated protein 3:
Representative Sequences:

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 CGAP 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

Evidence on tissue expression from TISSUES for MFAP3 Gene

  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with MFAP3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia MFAP3 33 34
  • 90.7 (n)
cow
(Bos Taurus)
Mammalia MFAP3 33 34
  • 88.67 (n)
mouse
(Mus musculus)
Mammalia Mfap3 33 16 34
  • 84.2 (n)
rat
(Rattus norvegicus)
Mammalia Mfap3 33
  • 83.29 (n)
oppossum
(Monodelphis domestica)
Mammalia MFAP3 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
chicken
(Gallus gallus)
Aves MFAP3 33 34
  • 69.73 (n)
lizard
(Anolis carolinensis)
Reptilia MFAP3 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mfap3 33
  • 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 Variation AA Info Type
rs1000295052 -- 154,037,560(+) G/A upstream_transcript_variant
rs1000308213 -- 154,057,076(+) G/A 3_prime_UTR_variant
rs1000320545 -- 154,050,085(+) G/C intron_variant
rs1000411913 -- 154,037,435(+) T/C upstream_transcript_variant
rs1000892272 -- 154,044,586(+) G/A 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)

Additional Variant Information 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

Additional Disease Information for MFAP3

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

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 WR … Rosenbloom J (Genomics 1995) 2 3 4 22 58
  2. Genome-wide association of BMI in African Americans. (PMID: 21701570) Ng MC … Bowden DW (Obesity (Silver Spring, Md.) 2012) 3 44 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for MFAP3 Gene

Sources for MFAP3 Gene

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