DIP2A
Disco-interacting protein 2 homolog A
Gene Information Card
| Symbol | DIP2A |
|---|---|
| Full Name | Disco-interacting protein 2 homolog A |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 23181 ncbi.nlm.nih.gov/gene/23181 |
| Ensembl ID | ENSG00000160211 |
| UniProt ID | Q86SQ0 |
| OMIM ID | 607711 |
| HGNC ID | 2929 |
| Aliases | C21orf158, DIP2, DIP2A, KIAA0184 |
Description
DIP2A encodes a member of the disco-interacting protein 2 family. The protein contains a DMAP1-binding domain and is involved in DNA methylation, transcriptional regulation, and neuronal development. It is highly expressed in the brain and may play a role in autism spectrum disorder and other neurodevelopmental conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered DIP2A expression may disrupt synaptic function and neuronal connectivity | PMID: 23453885 |
| Intellectual disability | Loss-of-function variants impair cognitive development | ClinVar: VCV000429496 |
| Schizophrenia | DIP2A dysregulation linked to dopaminergic signaling | PMID: 25687772 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Lung | 4.1 | Low |
| Liver | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.2 | Neuronal model |
| HEK293 | 6.8 | Embryonic kidney |
| HeLa | 3.5 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | 0.02% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense variants leading to premature truncation and likely haploinsufficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • transcription corepressor activity |
| • chromatin binding | • nucleus |
| • cytoplasm | • neuron projection |
Pathways
• DNA methylation
• Transcriptional regulation by DMAP1
Protein Summary
DIP2A is a 1576-amino acid protein that localizes to the nucleus and cytoplasm. It interacts with DMAP1 and participates in DNA methylation-mediated transcriptional repression. In neurons, it is enriched at synapses and may regulate dendritic spine morphology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DIP2A Knockout HEK293 Cell Line | EDJ-KQ7869 | Human | 23181 | Details Get a Quote |
| DIP2A Knockout A-549 Cell Line | EDJ-KQ33446 | Human | 23181 | Details Get a Quote |
| DIP2A Knockout HCT 116 Cell Line | EDJ-KQ33447 | Human | 23181 | Details Get a Quote |
| DIP2A Knockout HeLa Cell Line | EDJ-KQ33448 | Human | 23181 | Details Get a Quote |
