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BPIFB6 (BPI Fold Containing Family B Member 6) is a Protein Coding gene. Diseases associated with BPIFB6 include Midface Dysplasia and Spastic Paraplegia 20, Autosomal Recessive. 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 BPIFB4.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH20J032626 | Enhancer | 1.3 | FANTOM5 ENCODE CraniofacialAtlas dbSUPER | 1.6 | -403.5 | -403485 | 2.7 | HNRNPL IKZF1 KDM1A ZNF692 JUND MTA2 PHF21A ZIC2 PKNOX1 MTA1 | NOL4L ENSG00000233293 COMMD7 BAK1P1 BPIFB6 AB372778-018 lnc-DNMT3B-6 C20orf203 | |
GH20J033009 | Enhancer | 1.5 | FANTOM5 Ensembl CraniofacialAtlas dbSUPER | 0.4 | -22.0 | -21998 | 0.7 | HNRNPL GATAD2A TFE3 SOX13 NFKBIZ RCOR2 ZNF7 FOXA1 RBFOX2 RXRB | BPIFB2 ASXL1 POFUT1 TM9SF4 CDK5RAP1 BAK1P1 BPIFB6 L13712-018 | |
GH20J033021 | Enhancer | 0.5 | Ensembl | 0.4 | -9.5 | -9547 | 1.4 | RBFOX2 RBM22 POLR2A SSRP1 NFIL3 PAF1 GTF2F1 PPARG | CDK5RAP1 BPIFB4 BPIFB6 BPIFB2 L13712-018 | |
GH20J033014 | Enhancer | 0.5 | Ensembl | 0.4 | -16.9 | -16947 | 0.6 | RBFOX2 RBM22 SMAD4 MAX POLR2A | BPIFB2 BPIFB6 L13712-018 | |
GH20J033053 | Enhancer | 0.3 | Ensembl | 0.4 | +21.9 | 21853 | 0.6 | ZFHX2 EGR2 | BPIFB3 piR-43107-181 BPIFB6 L13712-018 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
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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 | BPIFB6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BPIFB6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BPIFB6 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bpifb6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bpifb6 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | BPIFB6 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BPIFB6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BPIFB6 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11907355 | - | p.Pro149Thr | |||
rs17301126 | - | p.Thr16Met | |||
rs2070317 | - | p.Val97Ile | |||
rs4911287 | - | p.Ser347Gly | |||
rs79809934 | - | p.Arg296His |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4301n100 | CNV | gain | 25217958 |
esv2758792 | CNV | loss | 17122850 |
esv3567952 | CNV | loss | 25503493 |
nsv1056411 | CNV | loss | 25217958 |
nsv1062857 | CNV | gain | 25217958 |
nsv3351 | CNV | insertion | 18451855 |
nsv3352 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
midface dysplasia |
|
|
spastic paraplegia 20, autosomal recessive |
|
|
acute hemorrhagic conjunctivitis |
|
|