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OTOP2 (Otopetrin 2) is a Protein Coding gene. Diseases associated with OTOP2 include Usher Syndrome and Colorectal Cancer. An important paralog of this gene is OTOP3.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH17J074926 | Promoter | 1.3 | EPDnew Ensembl | 600.7 | +0.3 | 251 | 0.4 | PRDM10 ZNF143 PATZ1 CTCF EZH2 HDAC1 ZNF561 SCRT2 ZBTB44 KLF9 | OTOP2 USH1G | |
GH17J074923 | Promoter/Enhancer | 1.2 | Ensembl ENCODE | 600.7 | +0.8 | 751 | 0.2 | GATAD2A CTCF PRDM10 TFE3 REST RAD21 IRF2 EZH2 HDAC1 ZNF561 | OTOP2 USH1G OTOP3 | |
GH17J074920 | Enhancer | 0.7 | Ensembl | 600.7 | -1.7 | -1650 | 1.4 | ZNF692 ZIC2 PATZ1 SCRT2 ZBTB20 SCRT1 WT1 ZFHX2 ZFP69B ZNF18 | OTOP2 USH1G piR-33422-180 FADS6 | |
GH17J074925 | Promoter | 0.6 | EPDnew | 600.7 | +1.3 | 1333 | 0.1 | IKZF1 PKNOX1 EZH2 TFDP1 MEIS2 ZBTB8A | OTOP2 USH1G OTOP3 | |
GH17J074924 | Promoter | 0.6 | EPDnew | 600.7 | +1.7 | 1700 | 0.1 | IKZF1 POLR2A EZH2 | OTOP2 USH1G OTOP3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015252 | proton channel activity | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:1902600 | proton transmembrane transport | IEA,ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | OTOP2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | OTOP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | OTOP2 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Otop2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Otop2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | OTOP2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | OTOP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | OTOP2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | OTOP2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100496174 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | otop2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG42265 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
773069 | Benign: not provided | 74,930,587(+) | G/A | MISSENSE_VARIANT | |
778747 | Benign: not provided | 74,933,421(+) | C/G | MISSENSE_VARIANT | |
805739 | Uncertain Significance: not provided | 74,923,009(+) | C/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
891906 | Uncertain Significance: Usher syndrome, type 1G | 74,923,149(+) | T/C | FIVE_PRIME_UTR_VARIANT | |
rs104894652 | Pathogenic: Usher syndrome, type 1G | 74,922,961(+) | C/T | NONSENSE,FIVE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
usher syndrome |
|
|
colorectal cancer |
|
|