ADNP2: Activity-Dependent Neuroprotector Homeobox 2
A chromatin-associated transcription factor implicated in neurodevelopment and cancer
Gene Information Card
| Symbol | ADNP2 |
|---|---|
| Full Name | Activity Dependent Neuroprotector Homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q23 |
| NCBI Gene ID | 23550 ncbi.nlm.nih.gov/gene/23550 |
| Ensembl ID | ENSG00000101665 |
| UniProt ID | Q6IQ26 |
| OMIM ID | 611386 |
| HGNC ID | 24066 |
| Aliases | ADNP2, ZNF508, KIAA0663 |
Description
ADNP2 encodes a zinc finger homeodomain-containing protein that functions as a transcription factor and chromatin remodeler. It is a paralog of ADNP and interacts with the SWI/SNF (BAF) chromatin remodeling complex. ADNP2 is involved in neuroprotection, neuronal differentiation, and cell cycle regulation. Expression is enriched in brain and testis, and dysregulation is linked to neurodevelopmental disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | ADNP2 mutations may disrupt chromatin remodeling and gene expression programs essential for brain development, similar to ADNP-related Helsmoortel-Van der Aa syndrome. | Limited; case reports and functional studies suggest association. |
| Breast cancer | ADNP2 overexpression correlates with poor prognosis; may promote proliferation via transcriptional regulation of cell cycle genes. | Expression profiling and in vitro studies. |
| Colorectal cancer | ADNP2 is upregulated in tumor tissues and may contribute to oncogenic signaling. | Gene expression microarray data. |
| Glioblastoma | ADNP2 expression is altered in glioma; potential role in tumor progression. | Transcriptomic analysis. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Heart | 4.2 | Low |
| Liver | 2.1 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model; high expression |
| HEK293 (embryonic kidney) | 8.7 | Moderate expression |
| MCF7 (breast cancer) | 11.2 | Overexpressed in cancer cell line |
| HCT116 (colorectal cancer) | 9.5 | Moderate 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% | Unknown; predicted damaging by SIFT/PolyPhen |
| c.567delG (p.Glu189fs) | Frameshift | <0.01% | Loss of function; likely pathogenic |
| c.2101A>G (p.Lys701Glu) | Missense | <0.01% | Unknown; possibly benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause haploinsufficiency or loss of protein function.
Gain of Function (GOF)
Not well documented; some missense variants may alter DNA-binding affinity.
Dominant Negative (DN)
Not established; potential if mutant protein interferes with SWI/SNF complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003677 (DNA binding) | • GO:0003700 (DNA-binding transcription factor activity) |
| • GO:0005634 (nucleus) | • GO:0006357 (regulation of transcription by RNA polymerase II) |
| • GO:0045944 (positive regulation of transcription by RNA polymerase II) | • GO:0006325 (chromatin organization) |
| • GO:0007399 (nervous system development) |
Pathways
• SWI/SNF (BAF) chromatin remodeling complex
• Transcriptional regulation by ADNP/ADNP2
• Neuronal differentiation
Protein Summary
ADNP2 is a 1102-amino acid protein containing nine zinc finger domains and a homeobox domain. It localizes to the nucleus and acts as a transcription factor. ADNP2 interacts with components of the BAF chromatin remodeling complex, suggesting a role in chromatin structure regulation. The protein is highly conserved in vertebrates and is essential for normal brain development. Alternative splicing generates multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADNP2 Knockout HEK293 Cell Line | EDJ-KQ7699 | Human | 22850 | Details Get a Quote |
| ADNP2 Knockout A-549 Cell Line | EDJ-KQ33081 | Human | 22850 | Details Get a Quote |
| ADNP2 Knockout HCT 116 Cell Line | EDJ-KQ33082 | Human | 22850 | Details Get a Quote |
| ADNP2 Knockout HeLa Cell Line | EDJ-KQ33083 | Human | 22850 | Details Get a Quote |
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