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Aliases for MFAP4 Gene

Aliases for MFAP4 Gene

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

External Ids for MFAP4 Gene

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. Among its related pathways are Degradation of the extracellular matrix and Elastic fibre formation. An important paralog of this gene is FIBCD1.

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

Genomic Location for MFAP4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MFAP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFAP4 Gene

Regulatory Elements for MFAP4 Gene

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

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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn87 and Asn137

Other Protein References for MFAP4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MFAP4 Gene

Domains for MFAP4 Gene

Gene Families for MFAP4 Gene

HGNC:
  • FIBC :Fibrinogen C domain containing

UniProtKB/Swiss-Prot:

MFAP4_HUMAN
Domain:
  • Contains 1 fibrinogen C-terminal domain.:
    • P55083
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

Gene Ontology (GO) - Molecular Function for MFAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 22355679
genes like me logo Genes that share ontologies with MFAP4: view

miRNA for MFAP4 Gene

miRTarBase miRNAs that target MFAP4

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for MFAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001527 microfibril NAS 7633408
GO:0005576 extracellular region TAS --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0070062 extracellular exosome IDA 23376485
GO:0071953 elastic fiber IDA 10424889
genes like me logo Genes that share ontologies with MFAP4: view

Pathways 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:0007155 cell adhesion IEA --
GO:0009650 UV protection IDA 22355679
GO:0010712 regulation of collagen metabolic process IDA 22355679
GO:0030198 extracellular matrix organization TAS --
GO:0043206 extracellular fibril organization IDA 22355679
genes like me logo Genes that share ontologies with MFAP4: view

Compounds for MFAP4 Gene

(1) HMDB Compounds for MFAP4 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Artery - Aorta (6.7), Artery - Coronary (5.3), and Artery - Tibial (4.0).

Integrated Proteomics: protein expression 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 expressions with MFAP4: view

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 36
  • 90.08 (n)
  • 95.04 (a)
MFAP4 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MFAP4 36
  • 91.56 (n)
  • 95.44 (a)
MFAP4 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfap4 36
  • 89.58 (n)
  • 95.83 (a)
Mfap4 16
Mfap4 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MFAP4 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mfap4 36
  • 89.39 (n)
  • 95.45 (a)
lizard
(Anolis carolinensis)
Reptilia MFAP4 37
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488644 36
  • 70.61 (n)
  • 70 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.18835 36
mfap4 37
  • 49 (a)
OneToMany
MFAP4 (1 of 14) 37
  • 47 (a)
OneToMany
MFAP4 (10 of 14) 37
  • 45 (a)
OneToMany
MFAP4 (11 of 14) 37
  • 47 (a)
OneToMany
MFAP4 (12 of 14) 37
  • 45 (a)
OneToMany
MFAP4 (13 of 14) 37
  • 44 (a)
OneToMany
MFAP4 (14 of 14) 37
  • 44 (a)
OneToMany
MFAP4 (2 of 14) 37
  • 46 (a)
OneToMany
MFAP4 (3 of 14) 37
  • 46 (a)
OneToMany
MFAP4 (4 of 14) 37
  • 48 (a)
OneToMany
MFAP4 (5 of 14) 37
  • 50 (a)
OneToMany
MFAP4 (6 of 14) 37
  • 52 (a)
OneToMany
MFAP4 (8 of 14) 37
  • 46 (a)
OneToMany
MFAP4 (9 of 14) 37
  • 45 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007031 36
  • 49.25 (n)
  • 36.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG41520 37
  • 12 (a)
OneToMany
sca 36
  • 54.58 (n)
  • 44.44 (a)
CG1889 38
  • 39 (a)
CG30281 38
  • 41 (a)
CG8642 38
  • 40 (a)
sca 38
  • 41 (a)
CG30280 38
  • 41 (a)
CG9500 38
  • 38 (a)
CG5550 38
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 52 (a)
ManyToMany
-- 37
  • 45 (a)
ManyToMany
-- 37
  • 46 (a)
ManyToMany
-- 37
  • 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

Selected SIMAP similar genes for MFAP4 Gene using alignment to 2 proteins:

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 MAF
rs973649 -- 19,388,755(-) AGATA(C/T)CTGTG upstream-variant-2KB
rs973650 -- 19,388,472(-) ATCTA(C/T)ATATA upstream-variant-2KB
rs1054206 -- 19,384,106(-) GTGGT(C/G)CATCT utr-variant-3-prime
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

Relevant External Links for MFAP4 Gene

HapMap Linkage Disequilibrium report
MFAP4

Disorders for MFAP4 Gene

(1) MalaCards Diseases for MFAP4 Gene

Search for MFAP4 Gene in MalaCards »

(1) University of Copenhagen DISEASES for MFAP4 Gene

Relevant External Links for MFAP4

Genetic Association Database (GAD)
MFAP4
Human Genome Epidemiology (HuGE) Navigator
MFAP4
genes like me logo Genes that share disorders with MFAP4: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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
  3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z. … Henzel W.J. (Protein Sci. 2004) 3 4
  4. 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
  5. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". (PMID: 20628624) Johnatty S.E. … . (PLoS Genet. 2010) 3 49

Products for MFAP4 Gene

Sources for MFAP4 Gene

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