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CLCC1 (Chloride Channel CLIC Like 1) is a Protein Coding gene. Diseases associated with CLCC1 include Chudley-Mccullough Syndrome and Retinitis Pigmentosa. Gene Ontology (GO) annotations related to this gene include chloride channel activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005254 | chloride channel activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005783 | endoplasmic reticulum | IDA,IBA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
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: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CLCC1 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | CLCC1 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | CLCC1 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Clcc1 32 |
|
||
mouse (Mus musculus) |
Mammalia | Clcc1 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
chicken (Gallus gallus) |
Aves | CLCC1 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | CLCC1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | clcc1 32 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC397947 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | LOC100332460 32 |
|
||
CLCC1 33 |
|
OneToOne |
SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1051868 | likely-benign, Nonsyndromic Hearing Loss, Recessive | 108,930,151(-) | G/A | 3_prime_UTR_variant | |
rs10607 | likely-benign, Nonsyndromic Hearing Loss, Recessive | 108,930,395(-) | C/T | 3_prime_UTR_variant | |
rs12030 | likely-benign, Nonsyndromic Hearing Loss, Recessive | 108,930,191(-) | T/C | 3_prime_UTR_variant | |
rs138132875 | benign-likely-benign, not specified | 108,929,693(-) | A/G | 3_prime_UTR_variant | |
rs140949805 | benign-likely-benign, uncertain-significance, not specified, not provided | 108,929,928(-) | G/A | 3_prime_UTR_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv15n21 | CNV | gain | 19592680 |
dgv251n100 | CNV | loss | 25217958 |
esv2421924 | CNV | deletion | 20811451 |
esv24963 | CNV | loss | 19812545 |
esv2662481 | CNV | deletion | 23128226 |
esv2715940 | CNV | deletion | 23290073 |
esv2760082 | CNV | loss | 21179565 |
esv3567237 | CNV | deletion | 23714750 |
esv3587142 | CNV | loss | 21293372 |
esv3587143 | CNV | loss | 21293372 |
nsv1137793 | CNV | deletion | 24896259 |
nsv437236 | CNV | loss | 16327808 |
nsv441708 | CNV | loss | 18776908 |
nsv514000 | CNV | loss | 21397061 |
nsv526049 | CNV | loss | 19592680 |
nsv547425 | CNV | gain | 21841781 |
nsv831026 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
chudley-mccullough syndrome |
|
|
retinitis pigmentosa |
|
|