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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]
MFAP5 (Microfibril Associated Protein 5) is a Protein Coding gene. Diseases associated with MFAP5 include Aortic Aneurysm, Familial Thoracic 9 and Familial Thoracic Aortic Aneurysm And Aortic Dissection. Among its related pathways are Degradation of the extracellular matrix and Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is MFAP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | TAS,RCA | 25037231 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001527 | microfibril | ISS | -- |
GO:0005576 | extracellular region | TAS | -- |
GO:0031012 | extracellular matrix | IEA | -- |
GO:0062023 | collagen-containing extracellular matrix | HDA | 25037231 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Notch Signaling Pathway (WikiPathways) | ||
2 | Elastic fibre formation | ||
3 | Degradation of the extracellular matrix | ||
4 | MFAP5-mediated ovarian cancer cell motility and invasiveness |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030198 | extracellular matrix organization | TAS | -- |
GO:0048048 | embryonic eye morphogenesis | IBA | 21873635 |
GO:0060216 | definitive hemopoiesis | ISS | -- |
GO:0097435 | supramolecular fiber organization | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MFAP5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MFAP5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MFAP5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mfap5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mfap5 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MFAP5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MFAP5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MFAP5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101734819 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mfap5 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636624 | Uncertain Significance: not provided | 8,649,528(-) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
668293 | Likely Benign: not provided | 8,654,418(-) | G/C | INTRON_VARIANT | |
668685 | Likely Benign: not provided | 8,650,537(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
669640 | Benign: not provided | 8,648,486(-) | C/A | INTRON_VARIANT | |
674704 | Benign: not provided | 8,660,999(-) | T/A | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2667162 | CNV | deletion | 23128226 |
nsv1051530 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
aortic aneurysm, familial thoracic 9 |
|
|
familial thoracic aortic aneurysm and aortic dissection |
|
|
aortic aneurysm |
|
|
aneurysm |
|
|
aortic disease |
|
|