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The protein encoded by this gene is similar to SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
SCARF2 (Scavenger Receptor Class F Member 2) is a Protein Coding gene. Diseases associated with SCARF2 include Van Den Ende-Gupta Syndrome and Sclerocornea. Gene Ontology (GO) annotations related to this gene include scavenger receptor activity. An important paralog of this gene is SCARF1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005044 | scavenger receptor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 17474147 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005925 | focal adhesion | HDA | 21423176 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006897 | endocytosis | IEA | -- |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007157 | heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SCARF2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SCARF2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Scarf2 30 |
|
||
Dog (Canis familiaris) |
Mammalia | SCARF2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Scarf2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SCARF2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | SCARF2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SCARF2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100485666 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100329632 30 |
|
||
SCARF2 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | nimA 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
813638 | Uncertain Significance: Microcephaly | 20,425,946(-) |
G/A NM_182895.5(SCARF2):c.2030C>T (p.Ala677Val) |
MISSENSE | |
993021 | Likely Pathogenic: Van den Ende-Gupta syndrome | 20,437,729(-) |
GC/G NM_182895.5(SCARF2):c.25del (p.Ala9fs) |
FRAMESHIFT | |
rs1241075295 | Likely Pathogenic: Van den Ende-Gupta syndrome | 20,430,848(-) |
G/C NM_182895.5(SCARF2):c.915C>G (p.Cys305Trp) |
MISSENSE | |
rs1475035263 | Uncertain Significance: not provided | 20,426,096(-) |
G/A NM_182895.5(SCARF2):c.1880C>T (p.Ala627Val) |
MISSENSE | |
rs367657189 | Uncertain Significance: not provided | 20,425,397(-) |
C/T NM_153334.7(SCARF2):c.2594G>A (p.Arg865Lys) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4483n100 | CNV | gain | 25217958 |
dgv7993n54 | CNV | gain | 21841781 |
esv3575430 | CNV | gain | 25503493 |
esv3647292 | CNV | gain | 21293372 |
esv3647293 | CNV | gain | 21293372 |
esv3893438 | CNV | gain | 25118596 |
nsv1056614 | CNV | loss | 25217958 |
nsv436864 | CNV | insertion | 17901297 |
nsv509809 | CNV | insertion | 20534489 |
nsv519901 | CNV | gain | 19592680 |
nsv523162 | CNV | loss | 19592680 |
nsv588293 | CNV | gain | 21841781 |
nsv828954 | CNV | gain | 20364138 |
nsv828955 | CNV | gain | 20364138 |
nsv834135 | CNV | gain | 17160897 |
nsv834136 | CNV | loss | 17160897 |
nsv834138 | CNV | loss | 17160897 |
nsv953032 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
van den ende-gupta syndrome |
|
|
sclerocornea |
|
|
blepharophimosis |
|
|
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
|
|
eyelid disease |
|
|