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KLHL8 (Kelch Like Family Member 8) is a Protein Coding gene. Diseases associated with KLHL8 include Verrucous Papilloma and Enamel Caries. An important paralog of this gene is KLHL20.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH04J087219 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 608.9 | +20.1 | 20114 | 2.8 | GATAD2A CTCF ZBTB33 PRDM10 ZNF629 SIX5 IKZF1 ZNF692 POLR2A RCOR2 | KLHL8 HSD17B13 piR-57138-039 GAPDHP60 lnc-KLHL8-1 ENSG00000285458 | |
GH04J087240 | Promoter/Enhancer | 0.8 | EPDnew Ensembl | 600.7 | -0.2 | -187 | 1 | SP1 NR2F2 FOSL2 HLF USF2 | KLHL8 lnc-KLHL8-1 HSD17B13 AFF1 piR-57392-002 | |
GH04J087241 | Enhancer | 0.5 | Ensembl | 600.7 | -1.2 | -1187 | 0.2 | FOXA1 CTBP1 GATAD2B GATA3 DPF2 ZNF217 SMARCE1 | KLHL8 lnc-KLHL8-1 ENSG00000250572 piR-57392-002 HSD17B13 | |
GH04J087239 | Enhancer | 0.2 | Ensembl | 600.7 | +0.6 | 613 | 0.2 | KLHL8 lnc-KLHL8-1 HSD17B13 piR-57138-039 ENSG00000285458 | ||
GH04J087209 | Enhancer | 0.8 | FANTOM5 ENCODE | 7.5 | +30.5 | 30522 | 0.9 | POLR2A CEBPB GABPA YY1 ELF1 CEBPG SPI1 ZNF384 ZNF18 ETV1 | KLHL8 HSD17B13 AFF1 HSD17B11 GAPDHP60 piR-57138-039 ENSG00000285458 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0031463 | Cul3-RING ubiquitin ligase complex | IDA | 19158078 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006511 | ubiquitin-dependent protein catabolic process | IDA | 19158078 |
GO:0016567 | protein ubiquitination | IDA,IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||
SP2: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KLHL8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KLHL8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KLHL8 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KLHL8 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KLHL8 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Klhl8 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Klhl8 30 |
|
||
Chicken (Gallus gallus) |
Aves | KLHL8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KLHL8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | klhl8 30 |
|
||
Str.2178 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | klhl8 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3234 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | kel-8 30 31 |
|
OneToOne | |
W02G9.2 32 |
|
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs17854114 | - | p.Pro520Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5335n100 | CNV | gain | 25217958 |
esv2727936 | CNV | deletion | 23290073 |
esv2727937 | CNV | deletion | 23290073 |
esv3601265 | CNV | loss | 21293372 |
esv3601267 | CNV | loss | 21293372 |
nsv1114549 | CNV | deletion | 24896259 |
nsv822636 | CNV | gain | 20364138 |
nsv966294 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
verrucous papilloma |
|
|
enamel caries |
|
|
holoprosencephaly 3 |
|
|