GTF2H2C_2: General Transcription Factor IIH Subunit 2C, Pseudogene 2
A pseudogene copy of the GTF2H2 gene, implicated in neurodevelopmental disorders and cancer susceptibility.
Gene Information Card
| Symbol | GTF2H2C_2 |
|---|---|
| Full Name | General transcription factor IIH subunit 2C, pseudogene 2 |
| Gene Type | Pseudogene |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 728395 ncbi.nlm.nih.gov/gene/728395 |
| Ensembl ID | ENSG00000272817 |
| UniProt ID | None (pseudogene) |
| OMIM ID | None (pseudogene) |
| HGNC ID | 44395 |
| Aliases | GTF2H2C, C5orf45, MGC149656 |
Description
GTF2H2C_2 is a pseudogene located on chromosome 5q13.2, part of a cluster of GTF2H2-related sequences. It is a non-functional copy of the GTF2H2 gene, which encodes a subunit of the general transcription factor IIH (TFIIH) complex. Pseudogenes like GTF2H2C_2 may play regulatory roles, such as producing non-coding RNAs or acting as microRNA sponges, though their exact functions remain under investigation. Its genomic region is complex and has been associated with copy number variations linked to neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders (e.g., autism, intellectual disability) | Copy number variations in the 5q13.2 region, including GTF2H2C_2, may disrupt gene dosage or regulatory elements, contributing to disease risk. | ClinVar and literature reports of CNVs in this region. |
| Cancer (e.g., lung, breast) | Altered expression of pseudogene-derived transcripts may affect cell proliferation or apoptosis pathways, though direct evidence is limited. | COSMIC and TCGA data show copy number alterations in this region. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | Not available | Pseudogene expression is generally low or absent; may be tissue-specific. |
| Testis | Not available | Some pseudogenes are expressed in testis. |
| Lung | Not available | Expression data not curated for this pseudogene. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | No data. |
| HEK293 | Not available | No data. |
| MCF7 | Not available | No data. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | N/A | N/A | Pseudogene; variants not systematically cataloged. |
Mutation functional classification
Loss of Function (LOF)
Not applicable; pseudogene is already non-functional.
Gain of Function (GOF)
Not applicable; no protein product.
Dominant Negative (DN)
Not applicable; no protein product.
View complete mutation data：
Protein Summary
GTF2H2C_2 does not encode a functional protein. It is a pseudogene, meaning it has lost its protein-coding ability due to mutations or incomplete duplication. It may produce non-coding RNA transcripts that could have regulatory roles, but no protein product is known.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GTF2H2C_2 Knockout HEK293 Cell Line | EDJ-KQ13697 | Human | 730394 | Details Get a Quote |
| GTF2H2C_2 Knockout A-549 Cell Line | EDJ-KQ43405 | Human | 730394 | Details Get a Quote |
| GTF2H2C_2 Knockout HCT 116 Cell Line | EDJ-KQ43406 | Human | 730394 | Details Get a Quote |
| GTF2H2C_2 Knockout HeLa Cell Line | EDJ-KQ43407 | Human | 730394 | Details Get a Quote |
