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KBTBD3 (Kelch Repeat And BTB Domain Containing 3) is a Protein Coding gene. Diseases associated with KBTBD3 include Schizotypal Personality Disorder. An important paralog of this gene is KLHL2.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH11J106076 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 606.4 | +0.1 | 64 | 4.2 | SP1 HNRNPL CREB1 CTCF ATF7 PRDM10 REST ZNF629 TFE3 KDM1A | MSANTD4 KBTBD3 AASDHPPT lnc-MSANTD4-2 LINC02719 | |
GH11J106021 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 11.2 | +56.6 | 56595 | 4.3 | SP1 HNRNPL CREB1 TEAD4 PRDM10 ZNF512 IKZF1 ZNF692 BACH1 FOS | MSANTD4 HSALNG0086902 AASDHPPT KBTBD3 ENSG00000254433 lnc-MSANTD4-1 GRIA4 | |
GH11J106238 | Enhancer | 0.5 | ENCODE | 5.3 | -161.3 | -161310 | 1.2 | PKNOX1 ZNF316 MAFF MAFK MAFG EMSY | ENSG00000255065 KBTBD3 LOC101928535 lnc-KBTBD3-3 GUCY1A2 | |
GH11J105708 | Enhancer | 0.2 | FANTOM5 | 5.3 | +369.3 | 369267 | 0.1 | HSPD1P13 GRIA4 KBTBD3 MSANTD4 lnc-AASDHPPT-4 | ||
GH11J105803 | Enhancer | 0.2 | FANTOM5 | 3.2 | +273.7 | 273714 | 0.4 | GRIA4 KBTBD3 MSANTD4 AASDHPPT RF00015-013 RNU4-55P lnc-AASDHPPT-4 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||
SP2: | - | - | - | ||||||||||
SP3: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KBTBD3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KBTBD3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KBTBD3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kbtbd3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | KBTBD3 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kbtbd3 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KBTBD3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KBTBD3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KBTBD3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kbtbd3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kbtbd3 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs35762821 | - | p.Met193Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1052674 | CNV | loss | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
schizotypal personality disorder |
|
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