ATF7IP2 Gene - Activating Transcription Factor 7 Interacting Protein 2
Comprehensive genomic and functional analysis of ATF7IP2, a transcriptional regulator involved in chromatin remodeling and gene expression.
Gene Information Card
| Symbol | ATF7IP2 |
|---|---|
| Full Name | Activating Transcription Factor 7 Interacting Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 80063 ncbi.nlm.nih.gov/gene/80063 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q5VUJ9 |
| OMIM ID | 614519 |
| HGNC ID | 26522 |
| Aliases | MBD2-interacting protein, MBD2-interacting protein 2, MBD2-interacting protein 2 (MBD2IP2) |
Description
ATF7IP2 encodes a protein that interacts with activating transcription factor 7 (ATF7) and is involved in transcriptional regulation. It functions as a cofactor in chromatin remodeling complexes, influencing gene expression through histone modification and DNA methylation pathways. The gene is located on chromosome 16p13.3 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | No curated evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.8 | Low expression |
| HepG2 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% in gnomAD | Unknown functional effect |
| c.567delA (p.Lys189fs) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Lys189fs) are predicted to cause loss of function via nonsense-mediated decay.
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)
| • transcription coregulator activity (GO:0003712) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • regulation of transcription (GO:0006355) |
| • chromatin organization (GO:0006325) |
Pathways
• Chromatin modifying enzymes
• Transcriptional regulation by ATF7
Protein Summary
The ATF7IP2 protein (UniProt Q5VUJ9) is a 1,200-amino acid nuclear protein that acts as a transcriptional coregulator. It contains domains for protein-protein interaction and chromatin binding, facilitating recruitment of histone-modifying complexes. Its expression is highest in testis, suggesting a role in spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATF7IP2 Knockout HEK293 Cell Line | EDJ-KQ9442 | Human | 80063 | Details Get a Quote |
| ATF7IP2 Knockout A-549 Cell Line | EDJ-KQ36130 | Human | 80063 | Details Get a Quote |
| ATF7IP2 Knockout HCT 116 Cell Line | EDJ-KQ36131 | Human | 80063 | Details Get a Quote |
| ATF7IP2 Knockout HeLa Cell Line | EDJ-KQ36132 | Human | 80063 | Details Get a Quote |
