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Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
MFAP2 (Microfibril Associated Protein 2) is a Protein Coding gene. Diseases associated with MFAP2 include Costello Syndrome and Weill-Marchesani Syndrome. Among its related pathways are Degradation of the extracellular matrix and Canonical and Non-canonical Notch signaling. Gene Ontology (GO) annotations related to this gene include fibronectin binding and fibrinogen binding. An important paralog of this gene is MFAP5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | RCA | 25037231 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001527 | microfibril | IDA | 24353434 |
GO:0005576 | extracellular region | TAS | -- |
GO:0062023 | collagen-containing extracellular matrix | HDA | 25037231 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Elastic fibre formation | ||
2 | Degradation of the extracellular matrix | ||
3 | Canonical and Non-canonical Notch signaling | ||
4 | Notch Signaling Pathway (WikiPathways) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0030198 | extracellular matrix organization | TAS | -- |
GO:0048048 | embryonic eye morphogenesis | IEP | 25406291 |
GO:0048050 | post-embryonic eye morphogenesis | IEP | 25406291 |
GO:0120162 | positive regulation of cold-induced thermogenesis | ISS | 24458361 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||
SP6: | - | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MFAP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MFAP2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MFAP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mfap2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mfap2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MFAP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MFAP2 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mfap2 30 |
|
||
MGC75763 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | mfap2-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mfap2 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8527 30 |
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv107n100 | CNV | gain | 25217958 |
dgv108n100 | CNV | gain | 25217958 |
dgv120n100 | CNV | gain | 25217958 |
dgv92n100 | CNV | gain | 25217958 |
esv2758925 | CNV | gain+loss | 17122850 |
nsv1077159 | CNV | deletion | 25765185 |
nsv1143440 | CNV | deletion | 24896259 |
nsv428421 | CNV | gain+loss | 18775914 |
nsv508947 | CNV | insertion | 20534489 |
nsv834269 | CNV | loss | 17160897 |
nsv834280 | CNV | loss | 17160897 |
nsv954854 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
costello syndrome |
|
|
weill-marchesani syndrome |
|
|
geleophysic dysplasia |
|
|
connective tissue disease |
|