GCFC2 Gene - GC-Rich Sequence DNA-Binding Factor 2
Comprehensive genomic and functional overview of GCFC2, a transcriptional regulator with roles in development and disease.
Gene Information Card
| Symbol | GCFC2 |
|---|---|
| Full Name | GC-rich sequence DNA-binding factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p12 |
| NCBI Gene ID | 6936 ncbi.nlm.nih.gov/gene/6936 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 617737 |
| HGNC ID | 4198 |
| Aliases | C2orf3, DNA-binding protein C2orf3, GCF2 |
Description
GCFC2 (GC-rich sequence DNA-binding factor 2) is a protein-coding gene located on chromosome 2p12. It encodes a transcription factor that binds to GC-rich DNA sequences and is involved in regulating gene expression. The protein is implicated in cellular processes such as proliferation and differentiation. Mutations and altered expression of GCFC2 have been associated with certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered GCFC2 expression may contribute to tumorigenesis through dysregulation of target genes. | COSMIC; PMID: 23535731 |
| Hepatocellular carcinoma | GCFC2 overexpression linked to poor prognosis and increased cell proliferation. | PMID: 28411370 |
| Neurodevelopmental disorders | Rare variants in GCFC2 identified in patients with intellectual disability. | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Colon | 4.3 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| HepG2 | 7.8 | Hepatocellular carcinoma cells |
| HCT116 | 5.4 | Colorectal carcinoma cells |
| A549 | 4.2 | Lung adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT/PolyPhen |
| c.1022G>A (p.Arg341Gln) | Missense | <0.01% | Unknown; predicted benign |
| c.1345_1346insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertion c.1345_1346insA leads to premature termination and likely loss of DNA-binding activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978) |
| • regulation of transcription by RNA polymerase II (GO:0006357) | • nucleus (GO:0005634) |
Pathways
• No specific pathway annotations in major databases.
Protein Summary
The GCFC2 protein (UniProt Q8N6T3) is a 546-amino acid transcription factor containing a GC-rich DNA-binding domain. It localizes to the nucleus and regulates transcription of target genes. The protein is expressed in multiple tissues, with highest levels in testis. Structural studies suggest it forms homodimers and interacts with other transcriptional regulators.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GCFC2 Knockout HEK293 Cell Line | EDJ-KQ5160 | Human | 6936 | Details Get a Quote |
| GCFC2 Knockout A-549 Cell Line | EDJ-KQ29409 | Human | 6936 | Details Get a Quote |
| GCFC2 Knockout HCT 116 Cell Line | EDJ-KQ29411 | Human | 6936 | Details Get a Quote |
| GCFC2 Knockout HeLa Cell Line | EDJ-KQ29412 | Human | 6936 | Details Get a Quote |
