POU6F2
POU class 6 homeobox 2 transcription factor
Gene Information Card
| Symbol | POU6F2 |
|---|---|
| Full Name | POU class 6 homeobox 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p14.1 |
| NCBI Gene ID | 11281 ncbi.nlm.nih.gov/gene/11281 |
| Ensembl ID | ENSG00000106546 |
| UniProt ID | O00257 |
| OMIM ID | 608090 |
| HGNC ID | 9225 |
| Aliases | RP11-403I13.4, POU domain class 6 transcription factor 2 |
Description
POU6F2 (POU class 6 homeobox 2) is a protein-coding gene that encodes a transcription factor belonging to the POU homeodomain family. The protein contains a POU-specific domain and a homeodomain, and is involved in regulation of gene expression, particularly in neuronal development and differentiation. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Wilms tumor | Somatic mutations and altered expression may contribute to tumorigenesis; POU6F2 is a candidate tumor suppressor gene in 7p14.1 | PMID: 15316956; COSMIC |
| Neuroblastoma | Differential expression and copy number alterations observed in neuroblastoma cell lines and tumors | PMID: 19165225 |
| Intellectual disability | Rare variants reported in individuals with neurodevelopmental phenotypes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Testis | 3.8 | Low |
| Kidney | 2.1 | Low |
| Lung | 1.5 | Not detected |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 4.5 | Moderate expression |
| HEK293 (embryonic kidney) | 2.0 | Low expression |
| HeLa (cervical carcinoma) | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335*) | Nonsense | <0.01% | Truncation, likely loss of function |
| c.1420G>A (p.Gly474Arg) | Missense | <0.01% | Unknown significance |
| c.1789_1790del (p.Leu597fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants (e.g., p.Arg335*, p.Leu597fs) are predicted to cause loss of function by truncating the protein or inducing nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations have been reported for POU6F2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for POU6F2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Gene expression (Transcription) - REACT_71
• Developmental Biology - REACT_11123
Protein Summary
The POU6F2 protein (UniProt O00257) is a 597-amino acid transcription factor containing a POU-specific domain (residues 223-298) and a homeodomain (residues 314-370). It binds to DNA as a monomer or dimer and regulates target genes involved in neuronal development. The protein is predominantly nuclear and expressed in brain and testis. Post-translational modifications include phosphorylation, but functional consequences are not fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POU6F2 Knockout HEK293 Cell Line | EDJ-KQ7365 | Human | 11281 | Details Get a Quote |
| POU6F2 Knockout HeLa Cell Line | EDJ-KQ55625 | Human | 11281 | Details Get a Quote |
| POU6F2 Knockout A-549 Cell Line | EDJ-KQ64124 | Human | 11281 | Details Get a Quote |
| POU6F2 Knockout HCT 116 Cell Line | EDJ-KQ72568 | Human | 11281 | Details Get a Quote |
