Aliases for MFAP5 Gene
Aliases for MFAP5 Gene
External Ids for MFAP5 Gene
- HGNC: 29673
- Entrez Gene: 8076
- Ensembl: ENSG00000197614
- OMIM: 601103
- UniProtKB: Q13361
Previous GeneCards Identifiers for MFAP5 Gene
- GC12M008690
- GC12M008689
- GC12M008798
- GC12M008585
- GC12M008806
Summaries for MFAP5 Gene
-
This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
GeneCards Summary for MFAP5 Gene
MFAP5 (Microfibril Associated Protein 5) is a Protein Coding gene. Diseases associated with MFAP5 include Aortic Aneurysm, Familial Thoracic 9 and Aortic Aneurysm. Among its related pathways are MFAP5-mediated ovarian cancer cell motility and invasiveness and Elastic fibre formation. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is MFAP2.
UniProtKB/Swiss-Prot for MFAP5 Gene
-
May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils (PubMed:8557636).
Additional gene information for MFAP5 Gene
- Monarch Initiative
- Search for MFAP5 at DataMed
- Search for MFAP5 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFAP5 Gene
Genomics for MFAP5 Gene
GeneHancer (GH) Regulatory Elements for MFAP5 Gene
Promoters and enhancers for MFAP5 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH12J008659 | Promoter/Enhancer | 1.5 | EPDnew FANTOM5 Ensembl ENCODE | 652.7 | +0.0 | 22 | 5.8 | MAZ RXRA MAX CEBPB EP300 POLR2A STAT3 RCOR1 PRDM1 CHD2 | MFAP5 ENSG00000255829 HADHAP2 | |
| GH12J008672 | Promoter/Enhancer | 0.9 | EPDnew FANTOM5 | 650.4 | -9.7 | -9721 | 0.3 | ZFP36 | MFAP5 CLEC6A CLEC4E M6PR ENSG00000249790 CLEC4D ENSG00000255829 LOC101060064 | |
| GH12J008909 | Promoter/Enhancer | 2.6 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 12.2 | -250.0 | -249974 | 7.1 | HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A FEZF1 ZNF2 ETS1 GLIS2 | PHC1 KLRG1 M6PR ENSG00000255829 MFAP5 A2ML1-AS2 A2ML1 ENSG00000282022 A2ML1-AS1 | |
| GH12J008639 | Enhancer | 0.3 | ENCODE | 13 | +23.1 | 23104 | 0.7 | GATA3 | ENSG00000255829 MFAP5 CLEC4E A2ML1-AS2 A2ML1 RNU6-275P HADHAP2 | |
| GH12J008634 | Enhancer | 0.3 | ENCODE | 13 | +26.8 | 26841 | 2.4 | MAFK | HADHAP2 ENSG00000255829 MFAP5 CLEC4E A2ML1-AS2 A2ML1 RNU6-275P RIMKLB |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around MFAP5 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MFAP5 gene promoter:
-
- MIF-1
- HSF2
- GCNF-2
- GCNF-1
- GCNF
- Cdc5
- RFX1
- Ik-1
- Brachyury
- Bach1
Regulatory Element Products
Genomic Locations for MFAP5 Gene
Genomic Locations for MFAP5 Gene
- chr12:8,637,346-8,662,888
- (GRCh38/hg38)
- Size:
- 25,543 bases
- Orientation:
- Minus strand
- chr12:8,789,942-8,815,484
- (GRCh37/hg19)
- Size:
- 25,543 bases
- Orientation:
- Minus strand
Genomic View for MFAP5 Gene
Genes around MFAP5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p13.31 by Entrez Gene
- 12p13.31 by HGNC
- 12p13.31 by Ensembl
MFAP5 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 MFAP5 Gene
Proteins for MFAP5 Gene
-
Protein details for MFAP5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13361-MFAP5_HUMAN
- Recommended name:
- Microfibrillar-associated protein 5
- Protein Accession:
- Q13361
- B0AZL6
- D3DUV1
- Q7Z490
Protein attributes for MFAP5 Gene
- Size:
- 173 amino acids
- Molecular mass:
- 19612 Da
- Quaternary structure:
-
- Interacts with TGFB2. Interacts with BMP2. Interacts with FBN1 (via N-terminal domain) and FBN2.
Protein Expression for MFAP5 Gene
Post-translational modifications for MFAP5 Gene
- Forms intermolecular disulfide bonds either with other MAGP-2 molecules or with other components of the microfibrils.
- N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. O-glycan heterogeneity at Thr-54: HexHexNAc (major) and HexHexNAc + sulfate (minor).
- Glycosylation at posLast=7979 and isoforms=254
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- MFAP5_HUMAN (752)
Other Protein References for MFAP5 Gene
Antibody Products
- R&D Systems Antibodies for MFAP5 (MAGP-2/MFAP5)
- Novus Biologicals Antibodies for MFAP5
-
Abcam antibodies for MFAP5
- Invitrogen Antibodies for MFAP5
- GeneTex MFAP5 Antibody for MFAP5
-
Boster Bio Antibodies for MFAP5
- Sino Biological Antibodies for MFAP5
Protein Products
- R&D Systems Proteins and Enzymes for MFAP5 (MAGP-2/MFAP5)
-
OriGene Purified Proteins for MFAP5
- Search Origene for MassSpec and Protein Over-expression Lysates for MFAP5
- Origene Custom Protein Services for MFAP5
- Sino Biological Recombinant Proteins for MFAP5
- Sino Biological Cell Lysates for MFAP5
- Search GeneTex for Proteins for MFAP5
-
Abcam proteins for MFAP5
Assay Products
- antibodies-online: Search results for 11 available MFAP5 Elisa Kits ranked by validation data
- Compare Top MFAP5 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for MFAP5 Gene
Domains & Families for MFAP5 Gene
Gene Families for MFAP5 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for MFAP5 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MFAP5 Gene
Graphical View of Domain Structure for InterPro Entry
Q13361- Family:
-
- Belongs to the MFAP family.
Function for MFAP5 Gene
Molecular function for MFAP5 Gene
- UniProtKB/Swiss-Prot Function:
- May play a role in hematopoiesis. In the cardiovascular system, could regulate growth factors or participate in cell signaling in maintaining large vessel integrity (By similarity). Component of the elastin-associated microfibrils (PubMed:8557636).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005201 | extracellular matrix structural constituent | TAS | 8557636 |
Phenotypes for MFAP5 Gene
- MGI mutant phenotypes for MFAP5:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for MFAP5:
Animal Models for MFAP5 Gene
- MGI Knock Outs for MFAP5:
-
- Mfap5 Mfap5<tm1Mech>
Animal Model Products
-
Taconic Biosciences Mouse Models for MFAP5
- Cyagen custom Knockout/knockin (KOKI) mouse models for MFAP5
-
CRISPR Products
-
OriGene CRISPR knockouts for MFAP5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MFAP5
- genomics-online: gRNA clones - Search results for 107 available MFAP5 gene related products
- Overview of 107 available MFAP5 gene related products
- Applied Biological Materials CRISPR for MFAP5
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MFAP5
- GenScript: Design CRISPR guide RNA sequences for MFAP5
miRNA for MFAP5 Gene
- miRTarBase miRNAs that target MFAP5
-
- hsa-mir-124-3p (MIRT022336)
- hsa-mir-6836-3p (MIRT646418)
- hsa-mir-5001-3p (MIRT646419)
- hsa-mir-6829-3p (MIRT646420)
- hsa-mir-6791-3p (MIRT646421)
- hsa-mir-6778-3p (MIRT646422)
- hsa-mir-4726-3p (MIRT646423)
- hsa-mir-6764-5p (MIRT646424)
- hsa-mir-6840-3p (MIRT646425)
- hsa-mir-1915-3p (MIRT646426)
- hsa-mir-190a-3p (MIRT707336)
- hsa-mir-374b-5p (MIRT707337)
- hsa-mir-374a-5p (MIRT707338)
- hsa-mir-5011-5p (MIRT707339)
- hsa-mir-410-3p (MIRT707340)
- hsa-mir-5692c (MIRT707341)
- hsa-mir-5692b (MIRT707342)
- hsa-mir-369-3p (MIRT707343)
- hsa-mir-1277-5p (MIRT707344)
- hsa-mir-6507-5p (MIRT707345)
- hsa-mir-1248 (MIRT761598)
- hsa-mir-1295a (MIRT762344)
- hsa-mir-4747-3p (MIRT771914)
- hsa-mir-5699-5p (MIRT775195)
- hsa-mir-5704 (MIRT775240)
- hsa-mir-874-5p (MIRT782515)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for MFAP5
- Browse OriGene Inhibitory RNA Products For MFAP5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFAP5
- genomics-online: shRNA clones - Search results for 107 available MFAP5 gene related products
- Overview of 107 available MFAP5 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MFAP5
- VectorBuilder custom plasmid, inducible vectors for MFAP5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MFAP5
-
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MFAP5
- Applied Biological Materials Clones for MFAP5
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MFAP5
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for MFAP5 Gene
Localization for MFAP5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MFAP5 Gene
- Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001527 | microfibril | ISS | -- |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IEA | -- |
| GO:0031012 | extracellular matrix | IDA | 27068509 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MFAP5 Gene
Pathways & Interactions for MFAP5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Notch signaling pathway (KEGG) | ||
| 2 | Elastic fibre formation | ||
| 3 | Degradation of the extracellular matrix | ||
| 4 | MFAP5-mediated ovarian cancer cell motility and invasiveness | ||
Pathways by source for MFAP5 Gene
2 BioSystems pathways for MFAP5 Gene
3 Reactome pathways for MFAP5 Gene
1 R&D Systems pathway for MFAP5 Gene
Interacting Proteins for MFAP5 Gene
GPS-Prot Interaction Network for MFAP5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030198 | extracellular matrix organization | TAS | -- |
| GO:0060216 | definitive hemopoiesis | ISS | -- |
| GO:0097435 | supramolecular fiber organization | IEA | -- |
No data available for SIGNOR curated interactions for MFAP5 Gene
Transcripts for MFAP5 Gene
mRNA/cDNA for MFAP5 Gene
- (5) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (166) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000535411 585 bps (uc058kxd.1)
- ENST00000543467 388 bps (uc058kxe.1)
- ENST00000359478 2845 bps (uc001qut.2)
- ENST00000433590 2308 bps (uc009zge.2)
- ENST00000396549 1195 bps (uc001qus.3)
Unigene Clusters for MFAP5 Gene
- Microfibrillar associated protein 5:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MFAP5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MFAP5
- genomics-online: gRNA clones - Search results for 107 available MFAP5 gene related products
- Overview of 107 available MFAP5 gene related products
- Applied Biological Materials CRISPR for MFAP5
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MFAP5
- GenScript: Design CRISPR guide RNA sequences for MFAP5
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for MFAP5
- Browse OriGene Inhibitory RNA Products For MFAP5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFAP5
- genomics-online: shRNA clones - Search results for 107 available MFAP5 gene related products
- Overview of 107 available MFAP5 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MFAP5
- VectorBuilder custom plasmid, inducible vectors for MFAP5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MFAP5
-
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MFAP5
- Applied Biological Materials Clones for MFAP5
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for MFAP5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Node Cells Atrioventricular Node
- Mature Cardiac Fibroblasts Myocardium
- Atrioventricular Node
- Bone (Muscoskeletal System)
-
Fibroblasts
- Mature Cardiac Fibroblasts Myocardium
- Detroit 551
- Skeletal Muscle (Muscoskeletal System)
- Inner Cell Mass (Early Embryonic Tissues)
- Cartilage (Muscoskeletal System)
-
Liver (Hepatobiliary System)
- Mature Mesothelial Cells Liver Lobule
- Dermis (Integumentary System)
-
Placenta (Extraembryonic Tissues)
-
Smooth Muscle (Muscoskeletal System)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for MFAP5 Gene
This gene is overexpressed in Nerve - Tibial (x6.6), Adipose - Subcutaneous (x5.4), and Uterus (x4.9).
This gene is overexpressed in Gallbladder (11.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MFAP5 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of MFAP5 Gene:
MFAP5SOURCE GeneReport for Unigene cluster for MFAP5 Gene:
Hs.512842Evidence on tissue expression from TISSUES for MFAP5 Gene
- Muscle(4.4)
- Liver(4.1)
- Heart(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MFAP5 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- mandible
- maxilla
- meninges
- mouth
- pharynx
- skull
Thorax:
- aorta
- chest wall
- heart
- heart valve
- lung
- rib
- rib cage
- sternum
Abdomen:
- abdominal wall
- intestine
Pelvis:
- pelvis
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for MFAP5
-
OriGene qPCR primer pairs and template standards for MFAP5
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for MFAP5 Gene
Orthologs for MFAP5 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MFAP5 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MFAP5 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MFAP5 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Mfap5 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mfap5 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MFAP5 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MFAP5 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MFAP5 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC101734819 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mfap5 34 |
|
OneToOne |
- Species where no ortholog for MFAP5 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)
- platypus (Ornithorhynchus anatinus)
- 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)
Evolution for MFAP5 Gene
- ENSEMBL:
- Gene Tree for MFAP5 (if available)
- TreeFam:
- Gene Tree for MFAP5 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MFAP5: view image
Paralogs for MFAP5 Gene
Variants for MFAP5 Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs724159961 | pathogenic, Aortic aneurysm, familial thoracic 9, Aortic aneurysm, familial thoracic 9 (AAT9) [MIM:616166] | 8,660,895(-) | C/A | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs727502791 | pathogenic, Aortic aneurysm, familial thoracic 9 | 8,648,141(-) | G/A | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| VAR_036430 | A breast cancer sample | p.Val61Asp | |||
| rs148879406 | likely-benign, not specified | 8,662,093(-) | C/T | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs151240610 | likely-benign, not specified | 8,648,221(-) | C/T | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2667162 | CNV | deletion | 23128226 |
| nsv1051530 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
56.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.47;
10.19% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MFAP5 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFAP5 Gene
Disorders for MFAP5 Gene
(4) MalaCards diseases for MFAP5 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| aortic aneurysm, familial thoracic 9 |
|
|
| aortic aneurysm |
|
|
| aneurysm |
|
|
| dysentery |
|
|
Search MFAP5 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MFAP5_HUMAN- Aortic aneurysm, familial thoracic 9 (AAT9) [MIM:616166]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as medial necrosis or Erdheim cystic medial necrosis in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269 PubMed:25434006}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MFAP5
No data available for Genatlas for MFAP5 Gene
Publications for MFAP5 Gene
- The exon structure of the human MAGP-2 gene. Similarity with the MAGP-1 gene is confined to two exons encoding a cysteine-rich region. (PMID: 9792630) Hatzinikolas G … Gibson MA (The Journal of biological chemistry 1998) 2 3 4 22 58
- Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25) (PMID: 8557636) Gibson MA … Cleary EG (The Journal of biological chemistry 1996) 2 3 4 58
- MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. (PMID: 25434006) Barbier M … Boileau C (American journal of human genetics 2014) 3 4 58
- A gene signature predictive for outcome in advanced ovarian cancer identifies a survival factor: microfibril-associated glycoprotein 2. (PMID: 19962670) Mok SC … Birrer MJ (Cancer cell 2009) 3 22 58
- Microfibril-associate glycoprotein-2 (MAGP-2) promotes angiogenic cell sprouting by blocking notch signaling in endothelial cells. (PMID: 18417156) Albig AR … Schiemann WP (Microvascular research 2008) 3 22 58
Products for MFAP5 Gene
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- GenScript: Design CRISPR guide RNA sequences for MFAP5
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for MFAP5
- Sino Biological Human cDNA Clone for MFAP5
- Sino Biological Recombinant Proteins for MFAP5
- Sino Biological Cell Lysates for MFAP5
- Sino Biological Antibodies for MFAP5
- Browse Sino Biological Assays
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MFAP5
- Novus Biologicals lysates and proteins for MFAP5
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for MFAP5
- Abcam proteins for MFAP5
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- Search Knockout (KO) Validated Antibodies
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- Taconic Biosciences Mouse Models for MFAP5
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for MFAP5
- Cyagen custom Knockout/knockin (KOKI) mouse models for MFAP5
- VectorBuilder custom plasmid, inducible vectors for MFAP5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MFAP5
- 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
- antibodies-online: Search results for 46 available MFAP5 Antibodies ranked by validation data
- Compare Top MFAP5 Antibodies
- antibodies-online: Search results for 11 available MFAP5 Elisa Kits ranked by validation data
- Compare Top MFAP5 Elisa Kits
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- antibodies-online: Search results for 17 available MFAP5 Proteins ranked by validation data
- Compare Top MFAP5 Proteins
- GeneTex MFAP5 Antibody for MFAP5
- Search GeneTex for Proteins for MFAP5
- Horizon Cell Lines for MFAP5
- genomics-online: cdna clones - Search results for 107 available MFAP5 gene related products
- Overview of 107 available MFAP5 gene related products
- orf clones - Search results for 107 available MFAP5 gene related products
- Overview of 107 available MFAP5 gene related products
- genomics-online: gRNA clones - Search results for 107 available MFAP5 gene related products
- Overview of 107 available MFAP5 gene related products
- genomics-online: primer clones - Search results for 107 available MFAP5 gene related products
- Overview of 107 available MFAP5 gene related products
- genomics-online: shRNA clones - Search results for 107 available MFAP5 gene related products
- Overview of 107 available MFAP5 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MFAP5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MFAP5
- GeneCopoeia miRNA 3'UTR Target clone products for MFAP5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MFAP5
- Boster Bio Antibodies for MFAP5
- Browse Boster Bio ELISA Kits
Sources for MFAP5 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt