DIP2C: Disco-Interacting Protein 2 Homolog C
A gene encoding a protein involved in DNA methylation regulation and neurodevelopment, with emerging roles in cancer and intellectual disability.
Gene Information Card
| Symbol | DIP2C |
|---|---|
| Full Name | Disco-Interacting Protein 2 Homolog C |
| Gene Type | Protein-coding |
| Chromosomal Location | 10p15.3 |
| NCBI Gene ID | 22982 ncbi.nlm.nih.gov/gene/22982 |
| Ensembl ID | ENSG00000151240 |
| UniProt ID | Q9Y2E4 |
| OMIM ID | 611380 |
| HGNC ID | 29284 |
| Aliases | KIAA0934, DIP2 homolog C |
Description
DIP2C encodes a member of the disco-interacting protein 2 family, which is involved in DNA methylation regulation by interacting with DNA methyltransferases. The protein contains a DMAP1-binding domain and is thought to play a role in transcriptional repression and neurodevelopment. DIP2C is widely expressed, with highest levels in brain and testis. Mutations and altered expression have been linked to intellectual disability, autism spectrum disorder, and various cancers, including colorectal and lung cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal dominant 70 | Loss-of-function mutations in DIP2C disrupt DNA methylation pathways critical for neuronal development | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in DIP2C may contribute to synaptic dysfunction and altered gene regulation | ClinVar, literature |
| Colorectal cancer | Hypermethylation of DIP2C promoter leads to reduced expression; somatic mutations observed | COSMIC, literature |
| Lung cancer | Somatic mutations and copy number alterations in DIP2C reported | COSMIC |
| Breast cancer | DIP2C downregulation associated with poor prognosis | Literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 15.3 | Medium |
| Lung | 6.2 | Low |
| Colon | 5.8 | Low |
| Breast | 4.1 | Low |
| Liver | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | Embryonic kidney; moderate expression |
| SH-SY5Y | 14.2 | Neuroblastoma; high expression |
| HCT116 | 6.5 | Colorectal carcinoma; low expression |
| A549 | 5.1 | Lung carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with intellectual disability |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Loss of function; reported in autism |
| c.2345A>G (p.Asn782Ser) | Missense | 0.2% | Unknown significance; found in colorectal cancer |
| c.3456G>A (p.Trp1152*) | Nonsense | <0.1% | Loss of function; observed in lung cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or truncated protein; associated with intellectual disability and autism.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not established; potential dominant-negative effects require further study.
View complete mutation data：
Gene Ontology (GO)
| • DNA methylation | • transcriptional repression |
| • chromatin binding | • nucleus |
| • protein binding | • neurogenesis |
Pathways
• DNA methylation regulation
• Transcriptional repression by DMAP1
Protein Summary
The DIP2C protein (UniProt Q9Y2E4) is a 1576-amino acid nuclear protein containing a DMAP1-binding domain. It interacts with DNA methyltransferases (DNMT1, DNMT3A) to facilitate DNA methylation and transcriptional repression. DIP2C is highly expressed in brain and testis, and its loss of function impairs neuronal development. The protein is also implicated in cancer through epigenetic silencing and somatic mutations.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DIP2C Knockout HEK293 Cell Line | EDJ-KQ7763 | Human | 22982 | Details Get a Quote |
| DIP2C Knockout A-549 Cell Line | EDJ-KQ33221 | Human | 22982 | Details Get a Quote |
| DIP2C Knockout HCT 116 Cell Line | EDJ-KQ33222 | Human | 22982 | Details Get a Quote |
| DIP2C Knockout HeLa Cell Line | EDJ-KQ33223 | Human | 22982 | Details Get a Quote |
