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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]
MFAP4 (Microfibril Associated Protein 4) is a Protein Coding gene. Diseases associated with MFAP4 include Smith-Magenis Syndrome and Noonan Syndrome 3. Among its related pathways are Degradation of the extracellular matrix and Elastic fibre formation. An important paralog of this gene is FN1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003823 | antigen binding | IBA | 21873635 |
GO:0005102 | signaling receptor binding | IBA | 21873635 |
GO:0005201 | extracellular matrix structural constituent | RCA | 20551380 |
GO:0005515 | protein binding | IPI | 22355679 |
GO:0097367 | carbohydrate derivative binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001527 | microfibril | NAS | 7633408 |
GO:0005576 | extracellular region | IDA,TAS | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0062023 | collagen-containing extracellular matrix | HDA,IDA | 26601954 |
GO:0071953 | elastic fiber | IDA | 10424889 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Elastic fibre formation | ||
2 | Degradation of the extracellular matrix |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001867 | complement activation, lectin pathway | IBA | 21873635 |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | MFAP4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MFAP4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mfap4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mfap4 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MFAP4 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MFAP4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100488644 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | MFAP4 (6 of 14) 31 |
|
OneToMany | |
MFAP4 (5 of 14) 31 |
|
OneToMany | |||
mfap4 31 |
|
OneToMany | |||
MFAP4 (4 of 14) 31 |
|
OneToMany | |||
MFAP4 (11 of 14) 31 |
|
OneToMany | |||
MFAP4 (1 of 14) 31 |
|
OneToMany | |||
MFAP4 (8 of 14) 31 |
|
OneToMany | |||
MFAP4 (2 of 14) 31 |
|
OneToMany | |||
MFAP4 (3 of 14) 31 |
|
OneToMany | |||
MFAP4 (9 of 14) 31 |
|
OneToMany | |||
MFAP4 (12 of 14) 31 |
|
OneToMany | |||
MFAP4 (10 of 14) 31 |
|
OneToMany | |||
MFAP4 (14 of 14) 31 |
|
OneToMany | |||
MFAP4 (13 of 14) 31 |
|
OneToMany | |||
Dr.18835 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | sca 30 32 |
|
||
CG5550 32 |
|
|
|||
CG30280 32 |
|
|
|||
CG30281 32 |
|
|
|||
CG8642 32 |
|
|
|||
CG1889 32 |
|
|
|||
CG9500 32 |
|
|
|||
CG41520 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007031 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs17855749 | - | p.Ala173Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3582561 | CNV | loss | 25503493 |
nsv1061317 | CNV | gain | 25217958 |
nsv574574 | CNV | gain | 21841781 |
nsv953845 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
smith-magenis syndrome |
|
|
noonan syndrome 3 |
|
|
noonan syndrome 1 |
|
|