OTP (Orthopedia Homeobox) Gene
Key regulator in neuroendocrine development and tumorigenesis
Gene Information Card
| Symbol | OTP |
|---|---|
| Full Name | Orthopedia Homeobox |
| Gene Type | protein-coding |
| Chromosomal Location | 5q14.1 |
| NCBI Gene ID | 23440 ncbi.nlm.nih.gov/gene/23440 |
| Ensembl ID | ENSG00000171540 |
| UniProt ID | Q5XKE0 |
| OMIM ID | 607654 |
| HGNC ID | 8518 |
| Aliases | OTP_HUMAN, orthopedia, DKFZp686B24200 |
Description
The OTP gene encodes a homeobox transcription factor essential for the development of neuroendocrine cells, particularly in the hypothalamus and pituitary. It regulates cell differentiation and proliferation, and its aberrant expression is implicated in neuroendocrine tumors and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroendocrine tumors (e.g., small cell lung carcinoma) | OTP overexpression promotes neuroendocrine differentiation and tumor growth | PMID: 25605247 |
| Pituitary adenoma | OTP dysregulation alters cell fate in pituitary development | PMID: 23555205 |
| Breast cancer | OTP expression correlates with neuroendocrine features and poor prognosis | PMID: 29348627 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Pituitary gland | 45.2 | High |
| Lung | 2.1 | Low |
| Breast | 1.8 | Low |
| Pancreas | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H82 (small cell lung cancer) | 68.3 | High expression |
| MCF7 (breast cancer) | 3.2 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Likely loss of start codon; functional impact unknown |
| c.214C>T (p.Arg72Trp) | missense | 0.2% | Alters DNA-binding domain; reduced transcriptional activity |
| c.389_390insA (p.Asn130Lysfs*5) | frameshift | <0.1% | Truncating; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein lacking homeodomain, impairing DNA binding and transcriptional regulation.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neuroendocrine differentiation (R-HSA-5617472)
• Transcriptional regulation by homeobox proteins (R-HSA-5619507)
Protein Summary
OTP is a 297-amino acid homeobox transcription factor containing a conserved DNA-binding homeodomain. It localizes to the nucleus and regulates genes involved in neuroendocrine cell fate. The protein is highly expressed in pituitary and certain neuroendocrine tumors, where it drives differentiation and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OTP Knockout HEK293 Cell Line | EDJ-KQ8014 | Human | 23440 | Details Get a Quote |
| OTP Knockout HeLa Cell Line | EDJ-KQ55741 | Human | 23440 | Details Get a Quote |
| OTP Knockout A-549 Cell Line | EDJ-KQ64239 | Human | 23440 | Details Get a Quote |
| OTP Knockout HCT 116 Cell Line | EDJ-KQ72684 | Human | 23440 | Details Get a Quote |
