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This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
TTYH2 (Tweety Family Member 2) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include chloride channel activity. An important paralog of this gene is TTYH3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005229 | intracellular calcium activated chloride channel activity | IBA | 21873635 |
GO:0005254 | chloride channel activity | IEA | -- |
GO:0005515 | protein binding | IPI | 18577513 |
GO:0072320 | volume-sensitive chloride channel activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0034707 | chloride channel complex | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ion channel transport | ||
2 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006821 | chloride transport | IEA | -- |
GO:1902476 | chloride transmembrane transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Chloride ion | Experimental | Pharma | 0 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17a | · | 17b | · | 17c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TTYH2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TTYH2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TTYH2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ttyh2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ttyh2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TTYH2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TTYH2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TTYH2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TTYH2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ttyh2 30 |
|
||
MGC76161 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | ttyh2-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ttyh2l 30 31 |
|
OneToMany | |
ttyh2 31 |
|
OneToMany | |||
wufi03f07 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | bbx 32 |
|
|
|
CG3638 31 |
|
ManyToMany | |||
tty 31 32 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11538875 | - | p.Pro11His | |||
rs11538876 | - | p.His85Asp | |||
rs12600564 | - | p.Thr419Ile | |||
rs35682745 | - | p.Ala262Thr | |||
rs35999669 | - | p.Ser265Ala |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv12e196 | CNV | duplication | 17116639 |
dgv3282n100 | CNV | gain | 25217958 |
dgv372n27 | CNV | gain | 19166990 |
dgv5768n54 | CNV | gain | 21841781 |
dgv587e214 | CNV | gain | 21293372 |
esv27340 | CNV | loss | 19812545 |
esv2751770 | CNV | gain | 17911159 |
esv2761978 | CNV | gain | 21179565 |
esv33995 | CNV | loss | 17666407 |
esv3573820 | CNV | gain | 25503493 |
esv3641230 | CNV | gain | 21293372 |
esv3641236 | CNV | loss | 21293372 |
esv3641237 | CNV | gain | 21293372 |
nsv1138578 | CNV | deletion | 24896259 |
nsv509673 | CNV | insertion | 20534489 |
nsv517569 | CNV | gain+loss | 19592680 |
nsv833538 | CNV | gain | 17160897 |
nsv833539 | CNV | loss | 17160897 |
No disorders were found for TTYH2 Gene.