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BPIFB4 (BPI Fold Containing Family B Member 4) is a Protein Coding gene. Diseases associated with BPIFB4 include Midface Dysplasia. Among its related pathways are Innate Immune System and Defensins. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is BPIFB3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008289 | lipid binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
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2 | Defensins |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BPIFB4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BPIFB4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BPIFB4 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BPIFB4 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bpifb4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bpifb4 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | BPIFB4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BPIFB4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BPIFB4 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2070325 | -. - | p.Ile268Valp.Ile229Val | |||
rs2424943 | -. - | p.Gly206Trpp.Gly167Trp | |||
rs11696307 | - | p.Thr533Ile | |||
rs11699009 | - | p.Phe527Leu | |||
rs2889732 | - | p.Asn320Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2659207 | CNV | deletion | 23128226 |
esv2672617 | CNV | deletion | 23128226 |
esv2722351 | CNV | deletion | 23290073 |
esv2758792 | CNV | loss | 17122850 |
esv3567953 | CNV | loss | 25503493 |
esv3645677 | CNV | loss | 21293372 |
nsv1056411 | CNV | loss | 25217958 |
nsv1058853 | CNV | loss | 25217958 |
nsv1117431 | CNV | deletion | 24896259 |
nsv1130767 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
midface dysplasia |
|
|