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Aliases for MFAP4 Gene

Aliases for MFAP4 Gene

  • Microfibrillar Associated Protein 4 2 3 5
  • Microfibril-Associated Glycoprotein 4 2

External Ids for MFAP4 Gene

Previous GeneCards Identifiers for MFAP4 Gene

  • GC17M019418
  • GC17M020758
  • GC17M019191
  • GC17M019448
  • GC17M019227
  • GC17M018666

Summaries for MFAP4 Gene

Entrez Gene Summary for MFAP4 Gene

  • This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

GeneCards Summary for MFAP4 Gene

MFAP4 (Microfibrillar Associated Protein 4) is a Protein Coding gene. Diseases associated with MFAP4 include smith-magenis syndrome and specific developmental disorder. Among its related pathways are Degradation of the extracellular matrix and Elastic fibre formation. An important paralog of this gene is TNC.

UniProtKB/Swiss-Prot for MFAP4 Gene

  • Could be involved in calcium-dependent cell adhesion or intercellular interactions.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFAP4 Gene

Genomics for MFAP4 Gene

Regulatory Elements for MFAP4 Gene

Promoters for MFAP4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MFAP4 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the MFAP4 gene promoter:

Genomic Location for MFAP4 Gene

Chromosome:
17
Start:
19,383,442 bp from pter
End:
19,387,240 bp from pter
Size:
3,799 bases
Orientation:
Minus strand

Genomic View for MFAP4 Gene

Genes around MFAP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFAP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFAP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFAP4 Gene

Proteins for MFAP4 Gene

  • Protein details for MFAP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55083-MFAP4_HUMAN
    Recommended name:
    Microfibril-associated glycoprotein 4
    Protein Accession:
    P55083
    Secondary Accessions:
    • A8KAJ1
    • A8MVM2
    • B4E317
    • Q6P680

    Protein attributes for MFAP4 Gene

    Size:
    255 amino acids
    Molecular mass:
    28648 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB00968.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG65329.1; Type=Erroneous termination; Positions=256; Note=Translated as stop.; Evidence={ECO:0000305};

    Alternative splice isoforms for MFAP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFAP4 Gene

Proteomics data for MFAP4 Gene at MOPED

Post-translational modifications for MFAP4 Gene

  • Glycosylation at Asn 87 and Asn 137
  • Modification sites at PhosphoSitePlus

Other Protein References for MFAP4 Gene

Antibody Products

No data available for DME Specific Peptides for MFAP4 Gene

Domains & Families for MFAP4 Gene

Gene Families for MFAP4 Gene

Suggested Antigen Peptide Sequences for MFAP4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P55083

UniProtKB/Swiss-Prot:

MFAP4_HUMAN :
  • Contains 1 fibrinogen C-terminal domain.
Domain:
  • Contains 1 fibrinogen C-terminal domain.
genes like me logo Genes that share domains with MFAP4: view

Function for MFAP4 Gene

Molecular function for MFAP4 Gene

GENATLAS Biochemistry:
microfibrillar associated glycoprotein 4,36kDa,component of microfibrils in the extracellular matrix,commonly deleted in Smith-Magenis syndrome
UniProtKB/Swiss-Prot Function:
Could be involved in calcium-dependent cell adhesion or intercellular interactions.

Phenotypes for MFAP4 Gene

genes like me logo Genes that share phenotypes with MFAP4: view

Animal Model Products

miRNA for MFAP4 Gene

miRTarBase miRNAs that target MFAP4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MFAP4 Gene

Localization for MFAP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFAP4 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MFAP4 Gene COMPARTMENTS Subcellular localization image for MFAP4 gene
Compartment Confidence
extracellular 5
nucleus 1

Gene Ontology (GO) - Cellular Components for MFAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril NAS 7633408
genes like me logo Genes that share ontologies with MFAP4: view

Pathways & Interactions for MFAP4 Gene

genes like me logo Genes that share pathways with MFAP4: view

Pathways by source for MFAP4 Gene

Gene Ontology (GO) - Biological Process for MFAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009650 UV protection IDA 22355679
GO:0010712 regulation of collagen metabolic process IDA 22355679
GO:0043206 extracellular fibril organization IDA 22355679
GO:0048251 elastic fiber assembly IDA 22355679
GO:0071493 cellular response to UV-B IDA 22355679
genes like me logo Genes that share ontologies with MFAP4: view

No data available for SIGNOR curated interactions for MFAP4 Gene

Drugs & Compounds for MFAP4 Gene

(1) Drugs for MFAP4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with MFAP4: view

Transcripts for MFAP4 Gene

Unigene Clusters for MFAP4 Gene

Microfibrillar-associated protein 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MFAP4 Gene

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

Relevant External Links for MFAP4 Gene

GeneLoc Exon Structure for
MFAP4
ECgene alternative splicing isoforms for
MFAP4

Expression for MFAP4 Gene

mRNA expression in normal human tissues for MFAP4 Gene

mRNA differential expression in normal tissues according to GTEx for MFAP4 Gene

This gene is overexpressed in Artery - Aorta (x6.7), Artery - Coronary (x5.3), and Artery - Tibial (x4.0).

Protein differential expression in normal tissues from HIPED for MFAP4 Gene

This gene is overexpressed in Adipocyte (9.0), Urinary Bladder (8.4), and Lung (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MFAP4 Gene



SOURCE GeneReport for Unigene cluster for MFAP4 Gene Hs.296049

genes like me logo Genes that share expression patterns with MFAP4: view

Protein tissue co-expression partners for MFAP4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MFAP4 Gene

Orthologs for MFAP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for MFAP4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MFAP4 35
  • 90.08 (n)
  • 95.04 (a)
MFAP4 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MFAP4 35
  • 91.56 (n)
  • 95.44 (a)
MFAP4 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfap4 35
  • 89.58 (n)
  • 95.83 (a)
Mfap4 16
Mfap4 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfap4 35
  • 89.39 (n)
  • 95.45 (a)
oppossum
(Monodelphis domestica)
Mammalia MFAP4 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFAP4 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488644 35
  • 70.61 (n)
  • 70 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.18835 35
mfap4 36
  • 49 (a)
OneToMany
MFAP4 (1 of 14) 36
  • 47 (a)
OneToMany
MFAP4 (10 of 14) 36
  • 45 (a)
OneToMany
MFAP4 (11 of 14) 36
  • 47 (a)
OneToMany
MFAP4 (12 of 14) 36
  • 45 (a)
OneToMany
MFAP4 (13 of 14) 36
  • 44 (a)
OneToMany
MFAP4 (14 of 14) 36
  • 44 (a)
OneToMany
MFAP4 (2 of 14) 36
  • 46 (a)
OneToMany
MFAP4 (3 of 14) 36
  • 46 (a)
OneToMany
MFAP4 (4 of 14) 36
  • 48 (a)
OneToMany
MFAP4 (5 of 14) 36
  • 50 (a)
OneToMany
MFAP4 (6 of 14) 36
  • 52 (a)
OneToMany
MFAP4 (8 of 14) 36
  • 46 (a)
OneToMany
MFAP4 (9 of 14) 36
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1889 37
  • 39 (a)
CG30280 37
  • 41 (a)
CG30281 37
  • 41 (a)
CG5550 37
  • 42 (a)
CG8642 37
  • 40 (a)
CG9500 37
  • 38 (a)
sca 37
  • 41 (a)
sca 35
  • 54.58 (n)
  • 44.44 (a)
CG41520 36
  • 12 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007031 35
  • 49.25 (n)
  • 36.18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
ManyToMany
-- 36
  • 45 (a)
ManyToMany
-- 36
  • 46 (a)
ManyToMany
-- 36
  • 50 (a)
ManyToMany
Species with no ortholog for MFAP4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 MFAP4 Gene

ENSEMBL:
Gene Tree for MFAP4 (if available)
TreeFam:
Gene Tree for MFAP4 (if available)

Paralogs for MFAP4 Gene

Paralogs for MFAP4 Gene

genes like me logo Genes that share paralogs with MFAP4: view

Variants for MFAP4 Gene

Sequence variations from dbSNP and Humsavar for MFAP4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs17855749 - 19,385,101(+) TACCT(A/G)CCCCG reference, missense
rs973649 -- 19,388,755(-) AGATA(C/T)CTGTG upstream-variant-2KB
rs973650 -- 19,388,472(-) ATCTA(C/T)ATATA upstream-variant-2KB
rs1634931 -- 19,385,320(-) CCCCA(A/G)GGCCA intron-variant
rs2240099 -- 19,384,961(-) CAAAC(A/C)AGCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MFAP4 Gene

Variant ID Type Subtype PubMed ID
nsv907864 CNV Loss 21882294

Variation tolerance for MFAP4 Gene

Residual Variation Intolerance Score: 24.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MFAP4 Gene

HapMap Linkage Disequilibrium report
MFAP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFAP4 Gene

Disorders for MFAP4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MFAP4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • smith magenis syndrome
specific developmental disorder
miller-dieker lissencephaly syndrome
  • mds
intermittent explosive disorder
  • explosive personality disorder
lens subluxation
  • subluxation of lens
- elite association - COSMIC cancer census association via MalaCards
Search MFAP4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MFAP4

Genetic Association Database (GAD)
MFAP4
Human Genome Epidemiology (HuGE) Navigator
MFAP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MFAP4
genes like me logo Genes that share disorders with MFAP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MFAP4 Gene

Publications for MFAP4 Gene

  1. The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. (PMID: 7633408) Zhao Z. … Patel P.I. (Hum. Mol. Genet. 1995) 2 3 4 23 67
  2. Microfibril-associated protein 4 binds to surfactant protein A (SP-A) and colocalizes with SP-A in the extracellular matrix of the lung. (PMID: 16867155) Schlosser A. … Holmskov U. (Scand. J. Immunol. 2006) 3 23
  3. Microfibril-associated protein 4 is present in lung washings and binds to the collagen region of lung surfactant protein D. (PMID: 10542261) Lausen M. … Holmskov U. (J. Biol. Chem. 1999) 3 23
  4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3
  5. LGALS3BP regulates centriole biogenesis and centrosome hypertrophy in cancer cells. (PMID: 23443559) Fogeron M.L. … Lange B.M. (Nat Commun 2013) 3

Products for MFAP4 Gene

Sources for MFAP4 Gene

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