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CACHD1 (Cache Domain Containing 1) is a Protein Coding gene. Diseases associated with CACHD1 include Cercarial Dermatitis and Hypertropia. An important paralog of this gene is CACNA2D3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005245 | voltage-gated calcium channel activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005891 | voltage-gated calcium channel complex | IBA | 21873635 |
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:0006816 | calcium ion transport | IEA | -- |
GO:0070588 | calcium ion transmembrane transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6876 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
ExUns: | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | |||||||||||||||
SP3: | |||||||||||||||
SP4: | |||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CACHD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CACHD1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CACHD1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CACHD1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Cachd1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cachd1 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CACHD1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CACHD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cachd1 30 |
|
||
Str.2042 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.10935 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cachd1 30 31 |
|
OneToOne | |
Dr.15338 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009043 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG16868 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
973047 | Not Provided: not provided | 64,648,031(+) |
G/A NM_020925.4(CACHD1):c.1387G>A (p.Asp463Asn) |
MISSENSE | |
rs201614737 | Not Provided: not provided | 64,582,187(+) |
G/A NM_020925.4(CACHD1):c.293G>A (p.Arg98His) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
rs750499224 | Not Provided: not provided | 64,678,313(+) |
A/G NM_020925.4(CACHD1):c.3244+3A>G |
INTRON | |
rs6588100 | - |
p.Met414Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1280177 | CNV | insertion | 17803354 |
esv1980143 | CNV | deletion | 18987734 |
esv2660804 | CNV | deletion | 23128226 |
esv2667664 | CNV | deletion | 23128226 |
esv2749152 | CNV | deletion | 23290073 |
esv3303888 | CNV | mobile element insertion | 20981092 |
esv3309582 | CNV | mobile element insertion | 20981092 |
esv3410076 | CNV | insertion | 20981092 |
esv3586265 | CNV | loss | 21293372 |
esv3586268 | CNV | loss | 21293372 |
esv3586269 | CNV | loss | 21293372 |
nsv1000188 | CNV | gain | 25217958 |
nsv1077372 | CNV | deletion | 25765185 |
nsv1119693 | CNV | deletion | 24896259 |
nsv1122355 | CNV | deletion | 24896259 |
nsv1136083 | CNV | deletion | 24896259 |
nsv1139480 | CNV | duplication | 24896259 |
nsv1153414 | CNV | deletion | 26484159 |
nsv471992 | CNV | novel sequence insertion | 20440878 |
nsv508237 | CNV | deletion | 20534489 |
nsv522029 | CNV | loss | 19592680 |
nsv546437 | CNV | loss | 21841781 |
nsv830048 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cercarial dermatitis |
|
|
hypertropia |
|
|
46,xy sex reversal 8 |
|
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