Aliases for MFAP4 Gene
Aliases for MFAP4 Gene
External Ids for MFAP4 Gene
- HGNC: 7035
- Entrez Gene: 4239
- Ensembl: ENSG00000166482
- OMIM: 600596
- UniProtKB: P55083
Previous GeneCards Identifiers for MFAP4 Gene
- GC17M019418
- GC17M020758
- GC17M019191
- GC17M019448
- GC17M019227
- GC17M018666
Summaries 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. Among its related pathways are Elastic fibre formation and Degradation of the extracellular matrix. 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. May contribute to the elastic fiber assembly and/or maintenance (PubMed:26601954).
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 dump
GeneHancers around MFAP4 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MFAP4 gene promoter:
Regulatory Element Products
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)
Genomic View for MFAP4 Gene
Genes around MFAP4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17p11.2 by Ensembl
- 17p11.2 by Entrez Gene
- 17p11.2 by HGNC
MFAP4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG65329.1; Type=Erroneous termination; Positions=256; Note=Translated as stop.; Evidence={ECO:0000305};
Protein Expression for MFAP4 Gene
Post-translational modifications for MFAP4 Gene
Other Protein References for MFAP4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
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-
Abcam proteins for MFAP4
Assay Products
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Cloud-Clone Corp. Assay Kits for MFAP4
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
Suggested Antigen Peptide Sequences for MFAP4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for MFAP4 Gene
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. May contribute to the elastic fiber assembly and/or maintenance (PubMed:26601954).
Phenotypes From GWAS Catalog for MFAP4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0005515 | protein binding | IPI | 22355679 |
Phenotypes for MFAP4 Gene
- MGI mutant phenotypes for MFAP4:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for MFAP4:
Animal Models for MFAP4 Gene
- MGI Knock Outs for MFAP4:
-
- Mfap4 tm1Ascr
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-
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miRNA for MFAP4 Gene
- miRTarBase miRNAs that target MFAP4
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-
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
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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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
- Endoplasmic reticulum (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001527 | microfibril | NAS | 7633408 |
| GO:0005576 | extracellular region | TAS,IDA | -- |
| GO:0005578 | proteinaceous extracellular matrix | IEA | -- |
| GO:0005615 | extracellular space | IEA | -- |
| GO:0031012 | colocalizes_with extracellular matrix | IDA | 20551380 |
Pathways & Interactions for MFAP4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Elastic fibre formation | ||
| 2 | Degradation of the extracellular matrix | ||
Pathways by source for MFAP4 Gene
3 Reactome pathways for MFAP4 Gene
Interacting Proteins 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 |
No data available for SIGNOR curated interactions for MFAP4 Gene
Drugs & Compounds for MFAP4 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Approved | Nutra | 0 |
Transcripts for MFAP4 Gene
mRNA/cDNA for MFAP4 Gene
- (2) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (281) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for MFAP4 Gene
- Microfibrillar-associated protein 4:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MFAP4
- genomics-online: gRNA clones - Search results for 121 available MFAP4 gene related products
- Overview of 121 available MFAP4 gene related products
- Applied Biological Materials CRISPR for MFAP4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MFAP4
- GenScript: Design CRISPR guide RNA sequences for MFAP4
miRNA Products
- Search ViGene Biosciences for MFAP4
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for MFAP4
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- genomics-online: shRNA clones - Search results for 121 available MFAP4 gene related products
- Overview of 121 available MFAP4 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for MFAP4 gene
Clone Products
- Sino Biological Human cDNA Clone for MFAP4
- VectorBuilder custom plasmid, inducible vectors for MFAP4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MFAP4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for MFAP4
- Applied Biological Materials Clones for MFAP4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||
| SP5: |
Expression 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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of MFAP4 Gene:
MFAP4SOURCE GeneReport for Unigene cluster for MFAP4 Gene:
Hs.296049Evidence 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(2.4)
- Heart(2.1)
- Eye(2)
Primer Products
-
OriGene qPCR primer pairs for MFAP4
-
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Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | MFAP4 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | MFAP4 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Mfap4 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mfap4 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MFAP4 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MFAP4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100488644 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | MFAP4 (6 of 14) 34 |
|
OneToMany | |
| MFAP4 (5 of 14) 34 |
|
OneToMany | |||
| mfap4 34 |
|
OneToMany | |||
| MFAP4 (4 of 14) 34 |
|
OneToMany | |||
| MFAP4 (1 of 14) 34 |
|
OneToMany | |||
| MFAP4 (11 of 14) 34 |
|
OneToMany | |||
| MFAP4 (2 of 14) 34 |
|
OneToMany | |||
| MFAP4 (3 of 14) 34 |
|
OneToMany | |||
| MFAP4 (8 of 14) 34 |
|
OneToMany | |||
| MFAP4 (10 of 14) 34 |
|
OneToMany | |||
| MFAP4 (12 of 14) 34 |
|
OneToMany | |||
| MFAP4 (9 of 14) 34 |
|
OneToMany | |||
| MFAP4 (13 of 14) 34 |
|
OneToMany | |||
| MFAP4 (14 of 14) 34 |
|
OneToMany | |||
| Dr.18835 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | sca 35 33 |
|
||
| CG5550 35 |
|
|
|||
| CG30280 35 |
|
|
|||
| CG30281 35 |
|
|
|||
| CG8642 35 |
|
|
|||
| CG1889 35 |
|
|
|||
| CG9500 35 |
|
|
|||
| CG41520 34 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007031 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
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)
Paralogs for MFAP4 Gene
(21) SIMAP similar genes for MFAP4 Gene using alignment to 2 proteins:
Variants for MFAP4 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000425702 | -- | 19,387,726(-) | G/A | upstream_transcript_variant | |
| rs1001019393 | -- | 19,386,576(-) | A/G | intron_variant | |
| rs1001508376 | -- | 19,385,894(-) | G/A | intron_variant | |
| rs1002007626 | -- | 19,387,658(-) | C/T | upstream_transcript_variant | |
| rs1002704266 | -- | 19,388,758(-) | T/C/G | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3582561 | CNV | loss | 25503493 |
| nsv1061317 | CNV | gain | 25217958 |
| nsv574574 | CNV | gain | 21841781 |
| nsv953845 | CNV | deletion | 24416366 |
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| smith-magenis syndrome |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for MFAP4 Gene
Publications for MFAP4 Gene
- 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 22 58
- 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 58
- 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 44 58
- 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 44 58
- 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 22 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for MFAP4
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Sources for MFAP4 Gene
- (1) GeneCards
- (2) HGNC
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