CXXC4
Summary: This gene encodes a CXXC-type zinc finger domain-containing protein that functions as an antagonist of the canonical wingless/integrated signaling pathway. The encoded protein negatively regulates wingless/integrated signaling through interaction with the post synaptic density protein/ Drosophila disc large tumor suppressor/ zonula occludens-1 protein domain of Dishevelled, a scaffolding protein required for the stabilization of the transcriptional co-activator beta-catenin. In addition, the CXXC domain of this protein has been shown to bind unmethylated CpG dinucleotides, localize to promoters and CpG islands, and interact with the catalytic domain of methylcytosine dioxygenase ten-eleven-translocation 2, an iron and alpha-ketoglutarate-dependent dioxygenase that modifies the methylation status of DNA. In humans, a mutation in this gene has been associated with development of malignant renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| CXXC finger protein 4 | MIM:611645 | Ensembl:ENSG00000168772 | HGNC:HGNC:24593 | PA134992016 | 4q24 |
GO terms in CXXC4
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0003677 | DNA binding |
| MF | IEA | GO:0008270 | zinc ion binding |
| MF | IPI | GO:0030165 | PDZ domain binding |
| BP | ISS | GO:0007352 | zygotic specification of dorsal/ventral axis |
| BP | IEA | GO:0016055 | Wnt signaling pathway |
| BP | IDA | GO:0030178 | negative regulation of Wnt signaling pathway |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0031410 | cytoplasmic vesicle |
Gene expression in normal tissue: CXXC4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CXXC4
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04310 | Wnt signaling pathway - Homo sapiens (human) |
| wikipathways | WP428 | Wnt Signaling Pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CXXC4
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