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DENND4C (DENN Domain Containing 4C) is a Protein Coding gene. Diseases associated with DENND4C include Alkuraya-Kucinskas Syndrome and Koolen-De Vries Syndrome. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND4A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
GO:0005515 | protein binding | IEA | -- |
GO:0017112 | Rab guanyl-nucleotide exchange factor activity | IDA | 20937701 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005794 | Golgi apparatus | IDA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0005886 | plasma membrane | ISS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | RAB GEFs exchange GTP for GDP on RABs |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015031 | protein transport | IEA | -- |
GO:0032869 | cellular response to insulin stimulus | ISS | -- |
GO:0072659 | protein localization to plasma membrane | ISS | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17a | · | 17b | ^ | 18a | · | 18b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 18c | ^ | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DENND4C 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DENND4C 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DENND4C 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dennd4c 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | RGD1308489 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | DENND4C 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | DENND4C 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DENND4C 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dennd4c 30 |
|
||
Str.16012 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | dennd4c 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Crag 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | denn-4 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1014 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs17818730 | - | p.Thr1266Ala | |||
rs34267952 | - | p.Val1227Gly | |||
rs6475322 | - | p.Asn1343His |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1060561 | CNV | insertion | 17803354 |
esv1745994 | CNV | deletion | 17803354 |
esv2302206 | CNV | deletion | 18987734 |
esv24621 | CNV | loss | 19812545 |
esv2665168 | CNV | deletion | 23128226 |
esv2668263 | CNV | deletion | 23128226 |
esv2677622 | CNV | deletion | 23128226 |
esv2738259 | CNV | deletion | 23290073 |
esv28580 | CNV | loss | 19812545 |
esv3544632 | CNV | deletion | 23714750 |
esv3544634 | CNV | deletion | 23714750 |
esv3573165 | CNV | loss | 25503493 |
esv3619900 | CNV | loss | 21293372 |
esv3619901 | CNV | gain | 21293372 |
esv3619902 | CNV | loss | 21293372 |
esv3619903 | CNV | loss | 21293372 |
esv3619904 | CNV | loss | 21293372 |
esv3619905 | CNV | gain | 21293372 |
esv3619906 | CNV | loss | 21293372 |
esv3619907 | CNV | gain | 21293372 |
esv3619908 | CNV | loss | 21293372 |
esv3619909 | CNV | loss | 21293372 |
nsv1024948 | CNV | loss | 25217958 |
nsv1029922 | CNV | gain | 25217958 |
nsv1030736 | CNV | gain | 25217958 |
nsv1074852 | CNV | deletion | 25765185 |
nsv466286 | CNV | gain | 19166990 |
nsv613729 | CNV | gain | 21841781 |
nsv613730 | CNV | gain | 21841781 |
nsv824872 | CNV | loss | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alkuraya-kucinskas syndrome |
|
|
koolen-de vries syndrome |
|
|