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OTOP2 (Otopetrin 2) is a Protein Coding gene. Diseases associated with OTOP2 include Usher Syndrome. 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 | 250.7 | +0.3 | 251 | 0.4 | MNT CTCF VEZF1 KLF9 FOSL1 PRDM10 KLF16 ZNF2 FOXM1 TFDP1 | USH1G OTOP2 | |
GH17J074923 | Promoter/Enhancer | 1.2 | Ensembl ENCODE | 250.7 | +0.8 | 751 | 0.2 | MXD4 MNT CTCF BHLHE40 THAP11 REST ZNF511 MAX VEZF1 SMAD4 | USH1G OTOP2 OTOP3 | |
GH17J074925 | Promoter | 0.6 | EPDnew | 250.7 | +1.3 | 1333 | 0.1 | IKZF1 TFDP1 MEIS2 ZBTB8A PKNOX1 EZH2 | USH1G OTOP2 OTOP3 | |
GH17J074924 | Promoter | 0.6 | EPDnew | 250.7 | +1.7 | 1700 | 0.1 | IKZF1 EZH2 POLR2A | USH1G OTOP2 OTOP3 | |
GH17J074919 | Enhancer | 0.6 | Ensembl | 0.7 | -3.3 | -3262 | 0.6 | REST CTCF RAD21 RARA SMC3 MBD1 HBP1 HNRNPL NR2F6 L3MBTL2 | USH1G OTOP2 piR-33422-180 FADS6 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 32296183 |
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 |
---|---|---|---|---|---|
891906 | Uncertain Significance: Usher syndrome, type 1G | 74,923,149(+) |
T/C NM_173477.5(USH1G):c.-76A>G |
FIVE_PRIME_UTR | |
964294 | Pathogenic: not provided | 74,922,961(+) |
CAG/C NM_173477.5(USH1G):c.111_112del (p.Trp38fs) |
FRAMESHIFT_VARIANT,FIVE_PRIME_UTR | |
rs104894652 | Pathogenic: Usher syndrome, type 1G | 74,922,961(+) |
C/T NM_173477.5(USH1G):c.113G>A (p.Trp38Ter) |
NONSENSE,FIVE_PRIME_UTR | |
rs141455683 | Benign: not provided | 74,930,587(+) |
G/A NM_178160.3(OTOP2):c.952G>A (p.Gly318Arg) |
MISSENSE | |
rs145448362 | Conflicting Interpretations: Usher syndrome, type 1G; not specified; not provided | 74,922,991(+) |
G/A NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) |
MISSENSE_VARIANT,FIVE_PRIME_UTR |
Disorder | Aliases | PubMed IDs |
---|---|---|
usher syndrome |
|
|