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This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]
DIPK1C (Divergent Protein Kinase Domain 1C) is a Protein Coding gene. Diseases associated with DIPK1C include Homocarnosinosis and Osteopetrosis, Autosomal Recessive 2. An important paralog of this gene is DIPK1B.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH18J074480 | Promoter/Enhancer | 1.4 | EPDnew FANTOM5 ENCODE | 250.4 | -15.9 | -15930 | 2.4 | CEBPA MNT IKZF1 HES1 THAP11 ARNT FOXA2 VEZF1 NBN SAP130 | DIPK1C CNDP2 MK280144-313 ENSG00000287689 HSALNG0122442 | |
GH18J074454 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE dbSUPER | 262.1 | +8.1 | 8145 | 3.8 | ZBTB10 EZH2 GLIS2 ZBTB26 ZNF335 | DIPK1C HSALNG0122440 CNDP2 C18orf63 | |
GH18J074463 | Enhancer | 0.3 | ENCODE dbSUPER | 250.7 | +1.2 | 1229 | 0.8 | DIPK1C CNDP2 HSALNG0122440 C18orf63 | ||
GH18J074468 | Enhancer | 0.8 | FANTOM5 Ensembl ENCODE dbSUPER | 11.8 | -4.1 | -4108 | 1.1 | HSALNG0122442 DIPK1C CNDP1 FBXO15 ENSG00000287689 CNDP2 | ||
GH18J074459 | Enhancer | 0.8 | Ensembl ENCODE dbSUPER | 8.5 | +4.5 | 4488 | 1.9 | CTCF VEZF1 ZNF366 SMC3 RAD21 ZNF24 XRCC5 | CNDP2 DIPK1C HSALNG0122440 C18orf63 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FAM69C 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fam69c 30 |
|
||
Cow (Bos Taurus) |
Mammalia | FAM69C 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fam69c 30 31 |
|
OneToOne | |
Dipk1c 17 |
|
||||
Dog (Canis familiaris) |
Mammalia | FAM69C 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FAM69C 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FAM69C 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FAM69C 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FAM69C 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fam69c 30 |
|
||
Str.12002 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | fam69c 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG12038 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | C53D5.1 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3401n100 | CNV | gain | 25217958 |
esv1000434 | CNV | deletion | 20482838 |
esv3643115 | CNV | loss | 21293372 |
esv3643117 | CNV | loss | 21293372 |
esv3643118 | CNV | gain | 21293372 |
nsv1057441 | CNV | gain | 25217958 |
nsv1064324 | CNV | gain | 25217958 |
nsv1067091 | CNV | loss | 25217958 |
nsv458298 | CNV | gain | 19166990 |
nsv527671 | CNV | gain | 19592680 |
nsv577652 | CNV | gain | 21841781 |
nsv577653 | CNV | gain | 21841781 |
nsv577654 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
homocarnosinosis |
|
|
osteopetrosis, autosomal recessive 2 |
|
|