PTTG1IP2 Gene: Structure, Function, and Clinical Relevance
A comprehensive overview of the PTTG1IP2 gene, including its genomic location, expression patterns, and associated diseases.
Gene Information Card
| Symbol | PTTG1IP2 |
|---|---|
| Full Name | PTTG1IP2 (pituitary tumor-transforming 1 interacting protein 2) |
| Gene Type | protein-coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 100287596 ncbi.nlm.nih.gov/gene/100287596 |
| Ensembl ID | ENSG00000284662 |
| UniProt ID | A0A0A0MRZ8 |
| OMIM ID | Not available |
| HGNC ID | HGNC:37225 |
| Aliases | C1orf128, FLJ37786 |
Description
PTTG1IP2 (pituitary tumor-transforming 1 interacting protein 2) is a protein-coding gene located on chromosome 1p31.1. It is also known as C1orf128. The gene encodes a protein that is predicted to be involved in protein-protein interactions, potentially with PTTG1 (pituitary tumor-transforming 1), though its exact biological function remains under investigation. Expression data suggest it is broadly expressed in various tissues, with notable levels in the thyroid and adrenal glands. The gene has been implicated in certain cancers and endocrine disorders, though its clinical significance is still being characterized.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thyroid cancer | Potential involvement in tumorigenesis via interaction with PTTG1, which is overexpressed in thyroid tumors. | Limited evidence from expression studies; no direct mutation data. |
| Pituitary adenomas | PTTG1IP2 may modulate PTTG1 activity, which is known to be overexpressed in pituitary adenomas. | Inferred from PTTG1 interaction; no direct clinical evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.3 | Medium |
| Adrenal gland | 10.1 | Medium |
| Testis | 8.5 | Low |
| Brain | 5.2 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | High expression |
| A549 | 8.2 | Moderate |
| MCF7 | 6.7 | Moderate |
| K562 | 3.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | 0.01% (gnomAD) | Unknown; predicted benign by in silico tools. |
| c.456C>T (p.Ser152Leu) | Missense | 0.005% | Unknown; no clinical significance reported. |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been reported in ClinVar or COSMIC for PTTG1IP2.
Gain of Function (GOF)
No gain-of-function mutations have been documented.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Pathways
• No specific pathways are curated for PTTG1IP2 in major databases; it may participate in PTTG1-related signaling.
Protein Summary
The PTTG1IP2 protein is a small, uncharacterized protein of approximately 200 amino acids. It is predicted to localize to the cytoplasm and may interact with PTTG1, a protein involved in cell cycle regulation and tumorigenesis. The protein's exact function is not yet fully understood, but its expression in endocrine tissues suggests a role in hormone-related processes. Further studies are needed to elucidate its molecular mechanisms and clinical implications.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTTG1IP2 Knockout HEK293 Cell Line | EDJ-KQ14958 | Human | 102723899 | Details Get a Quote |
| PTTG1IP2 Knockout A-549 Cell Line | EDJ-KQ45428 | Human | 102723899 | Details Get a Quote |
| PTTG1IP2 Knockout HCT 116 Cell Line | EDJ-KQ45429 | Human | 102723899 | Details Get a Quote |
| PTTG1IP2 Knockout HeLa Cell Line | EDJ-KQ45430 | Human | 102723899 | Details Get a Quote |
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