TFCP2L1 Gene: Transcription Factor CP2 Like 1
Comprehensive gene information for TFCP2L1, including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | TFCP2L1 |
|---|---|
| Full Name | Transcription Factor CP2 Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.3 |
| NCBI Gene ID | 29842 ncbi.nlm.nih.gov/gene/29842 |
| Ensembl ID | ENSG00000115138 |
| UniProt ID | Q9NZI6 |
| OMIM ID | 612578 |
| HGNC ID | 17179 |
| Aliases | CRTR1, LBP-9, LBP9, TFCP2L1 |
Description
TFCP2L1 (Transcription Factor CP2 Like 1) is a protein-coding gene. It encodes a transcription factor that belongs to the CP2 family, which is involved in the regulation of gene expression during development and differentiation. The protein is known to play a role in the maintenance of pluripotency in embryonic stem cells and in the regulation of the epithelial-mesenchymal transition. TFCP2L1 is also implicated in the development of the kidney and other organs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 5.2 | Low |
| Lung | 3.1 | Low |
| Testis | 2.8 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.9 | Embryonic kidney cells |
| HepG2 | 4.3 | Hepatocellular carcinoma |
| A549 | 2.7 | Lung carcinoma |
| K562 | 1.2 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations reported in ClinVar or COSMIC.
Dominant Negative (DN)
No dominant-negative mutations reported in ClinVar or COSMIC.
View complete mutation data：
Gene Ontology (GO)
Pathways
• No specific pathways curated in Reactome or KEGG for TFCP2L1.
Protein Summary
The TFCP2L1 protein is a 480-amino acid transcription factor containing a CP2-type DNA-binding domain. It forms homodimers and heterodimers with other CP2 family members to regulate target gene expression. The protein is involved in maintaining pluripotency in embryonic stem cells and in kidney development. It is localized to the nucleus and binds to specific DNA sequences to modulate transcription.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TFCP2L1 Knockout HEK293 Cell Line | EDJ-KQ9057 | Human | 29842 | Details Get a Quote |
| TFCP2L1 Knockout A-549 Cell Line | EDJ-KQ35517 | Human | 29842 | Details Get a Quote |
| TFCP2L1 Knockout HCT 116 Cell Line | EDJ-KQ35518 | Human | 29842 | Details Get a Quote |
| TFCP2L1 Knockout HeLa Cell Line | EDJ-KQ56111 | Human | 29842 | Details Get a Quote |
