MFAP4 Gene (Protein Coding)

Microfibril Associated Protein 4

GC17M019383
GIFtS:
40
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 diffe... See more...

Aliases for MFAP4 Gene

Aliases for MFAP4 Gene

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

External Ids for MFAP4 Gene

Previous GeneCards Identifiers for MFAP4 Gene

  • GC17M019418
  • GC17M020758
  • GC17M019191
  • GC17M019448
  • GC17M019227
  • GC17M019286
  • 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 (Microfibril Associated Protein 4) is a Protein Coding gene. Diseases associated with MFAP4 include Smith-Magenis Syndrome and Focal Chorioretinitis. Among its related pathways are Degradation of the extracellular matrix and Elastic fibre formation. An important paralog of this gene is ANGPTL6.

UniProtKB/Swiss-Prot Summary for MFAP4 Gene

  • Could be involved in calcium-dependent cell adhesion or intercellular interactions. May contribute to the elastic fiber assembly and/or maintenance (PubMed:26601954).

Additional gene information for MFAP4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MFAP4 Gene

Genomics for MFAP4 Gene

GeneHancer (GH) Regulatory Elements for MFAP4 Gene

Promoters and enhancers for MFAP4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MFAP4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MFAP4

Top Transcription factor binding sites by QIAGEN in the MFAP4 gene promoter:
  • AML1a

Genomic Locations for MFAP4 Gene

Genomic Locations for MFAP4 Gene
chr17:19,383,442-19,387,240
(GRCh38/hg38)
Size:
3,799 bases
Orientation:
Minus strand
chr17:19,286,755-19,290,553
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for MFAP4 Gene

Proteins for MFAP4 Gene

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  • 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:
    • Homodimer. Can also form higher oligomers. Interacts with FBN1, FBN2 and LOX. Interacts with COL1A1 in a Ca (2+)-dependent manner. Interacts with ELN in a Ca (2+)-dependent manner; this interaction promotes ELN self-assembly (PubMed:26601954).
    SequenceCaution:
    • Sequence=AAB00968.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG65329.1; Type=Erroneous termination; Note=Extended C-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for MFAP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFAP4 Gene

Protein Expression for MFAP4 Gene

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

Post-translational modifications for MFAP4 Gene

  • Glycosylation at Asn87 and Asn137
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • MFAP4_HUMAN (1512)

Other Protein References for MFAP4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MFAP4 Gene

Domains & Families for MFAP4 Gene

Gene Families for MFAP4 Gene

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

Protein Domains for MFAP4 Gene

Blocks:
  • Fibrinogen, beta/gamma chain, C-terminal globular
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFAP4 Gene

GenScript: Design optimal peptide antigens:
  • Microfibril-associated glycoprotein 4 (MFAP4_HUMAN)
genes like me logo Genes that share domains with MFAP4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MFAP4 Gene

Function for MFAP4 Gene

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  1. Animal Model
  2. CRISPR
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  6. Cell Line

Molecular function for MFAP4 Gene

UniProtKB/Swiss-Prot Function:
Could be involved in calcium-dependent cell adhesion or intercellular interactions. May contribute to the elastic fiber assembly and/or maintenance (PubMed:26601954).
GENATLAS Biochemistry:
microfibrillar associated glycoprotein 4,36kDa,component of microfibrils in the extracellular matrix,commonly deleted in Smith-Magenis syndrome

Phenotypes From GWAS Catalog for MFAP4 Gene

Gene Ontology (GO) - Molecular Function for MFAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent RCA 20551380
GO:0005515 protein binding IPI 22355679
genes like me logo Genes that share ontologies with MFAP4: view
genes like me logo Genes that share phenotypes with MFAP4: view

Animal Models for MFAP4 Gene

MGI Knock Outs for MFAP4:
  • Mfap4 Mfap4<tm1Ascr>
  • Mfap4 Mfap4<tm1b(NCOM)Mfgc>

Animal Model Products

CRISPR Products

miRNA for MFAP4 Gene

miRTarBase miRNAs that target MFAP4

Clone Products

  • Addgene plasmids for MFAP4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 MFAP4 gene
Compartment Confidence
extracellular 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

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,IDA --
GO:0062023 collagen-containing extracellular matrix HDA,IDA 26601954
GO:0071953 elastic fiber IDA 10424889
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:0007155 cell adhesion IEA --
GO:0009650 UV protection IDA 22355679
GO:0010712 regulation of collagen metabolic process 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

Products:

  1. Drug

(1) Drugs for MFAP4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with MFAP4: view

Transcripts for MFAP4 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for MFAP4 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for MFAP4

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

Expression for MFAP4 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MFAP4 Gene

mRNA expression in normal human tissues for MFAP4 Gene
mRNA expression by BioGPS for MFAP4 GenemRNA expression by GTEx 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 and MOPED for MFAP4 Gene



Protein tissue co-expression partners for MFAP4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MFAP4

SOURCE GeneReport for Unigene cluster for MFAP4 Gene:

Hs.296049

Evidence on tissue expression from TISSUES for MFAP4 Gene

  • Nervous system(4.6)
  • Liver(4.3)
  • Bone marrow(4)
  • Lung(3.3)
  • Gall bladder(2.6)
  • Muscle(2.5)
  • Heart(2.4)
  • Eye(2)
genes like me logo Genes that share expression patterns with MFAP4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
dog
(Canis familiaris)
 Mammalia MFAP4 31 30
  • 91.56 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MFAP4 31 30
  • 90.08 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mfap4 17 31 30
  • 89.58 (n)
rat
(Rattus norvegicus)
 Mammalia Mfap4 30
  • 89.39 (n)
oppossum
(Monodelphis domestica)
 Mammalia MFAP4 31
  • 78 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MFAP4 31
  • 78 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100488644 30
  • 70.61 (n)
zebrafish
(Danio rerio)
 Actinopterygii MFAP4 (6 of 14) 31
  • 52 (a)
 OneToMany
MFAP4 (5 of 14) 31
  • 50 (a)
 OneToMany
mfap4 31
  • 49 (a)
 OneToMany
MFAP4 (4 of 14) 31
  • 48 (a)
 OneToMany
MFAP4 (11 of 14) 31
  • 47 (a)
 OneToMany
MFAP4 (1 of 14) 31
  • 47 (a)
 OneToMany
MFAP4 (8 of 14) 31
  • 46 (a)
 OneToMany
MFAP4 (2 of 14) 31
  • 46 (a)
 OneToMany
MFAP4 (3 of 14) 31
  • 46 (a)
 OneToMany
MFAP4 (9 of 14) 31
  • 45 (a)
 OneToMany
MFAP4 (12 of 14) 31
  • 45 (a)
 OneToMany
MFAP4 (10 of 14) 31
  • 45 (a)
 OneToMany
MFAP4 (14 of 14) 31
  • 44 (a)
 OneToMany
MFAP4 (13 of 14) 31
  • 44 (a)
 OneToMany
Dr.18835 30
fruit fly
(Drosophila melanogaster)
 Insecta sca 32 30
  • 54.58 (n)
CG5550 32
  • 42 (a)
CG30281 32
  • 41 (a)
CG30280 32
  • 41 (a)
CG8642 32
  • 40 (a)
CG1889 32
  • 39 (a)
CG9500 32
  • 38 (a)
CG41520 31
  • 12 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007031 30
  • 49.25 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 52 (a)
 ManyToMany
-- 31
  • 50 (a)
 ManyToMany
-- 31
  • 46 (a)
 ManyToMany
-- 31
  • 45 (a)
 ManyToMany
Species where no ortholog for MFAP4 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MFAP4: view image

Paralogs for MFAP4 Gene

Paralogs for MFAP4 Gene

(21) SIMAP similar genes for MFAP4 Gene using alignment to 2 proteins:

  • MFAP4_HUMAN
  • K7ES70_HUMAN
genes like me logo Genes that share paralogs with MFAP4: view

Variants for MFAP4 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MFAP4 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs17855749 - p.Ala173Val

Additional dbSNP identifiers (rs#s) for MFAP4 Gene

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

Variant ID Type Subtype PubMed ID
esv3582561 CNV loss 25503493
nsv1061317 CNV gain 25217958
nsv574574 CNV gain 21841781
nsv953845 CNV deletion 24416366

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)

Additional Variant Information for MFAP4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFAP4

SNP Genotyping and Copy Number Assay Products

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

Disorders for MFAP4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • sms
focal chorioretinitis
- elite association - COSMIC cancer census association via MalaCards
Search MFAP4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MFAP4

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 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 PI (Human molecular genetics 1995) 2 3 4 23 54
  2. Characterization of Microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding Protein Involved in Elastic Fiber Formation. (PMID: 26601954) Pilecki B … Sorensen GL (The Journal of biological chemistry 2016) 3 4 54
  3. 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 SE … Australian Cancer Study (Ovarian Cancer) (PLoS genetics 2010) 3 41 54
  4. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. (PMID: 17539903) Edelman EA … Elsea SH (Clinical genetics 2007) 3 41 54
  5. 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 (Scandinavian journal of immunology 2006) 3 23 54

ExternalLinks

View latest publications for MFAP4 gene in Mastermind

Products for MFAP4 Gene

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Sources for MFAP4 Gene