MCF2L
MCF.2 Cell Line Derived Transforming Sequence-Like
Gene Information Card
| Symbol | MCF2L |
|---|---|
| Full Name | MCF.2 cell line derived transforming sequence-like |
| Gene Type | protein-coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 23263 ncbi.nlm.nih.gov/gene/23263 |
| Ensembl ID | ENSG00000102468 |
| UniProt ID | O15068 |
| OMIM ID | 609499 |
| HGNC ID | 14578 |
| Aliases | DBS, FLJ10385, KIAA0362, MCF2L1 |
Description
MCF2L (MCF.2 cell line derived transforming sequence-like) is a protein-coding gene located on chromosome 13q34. It encodes a guanine nucleotide exchange factor (GEF) for Rho GTPases, particularly RhoA and Rac1, and is involved in cytoskeletal organization, cell migration, and signal transduction. The gene is expressed in multiple tissues and has been implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | MCF2L overexpression may promote cell migration and invasion via Rho GTPase activation | PMID: 23431147 |
| Lung cancer | Altered MCF2L expression linked to tumor progression | PMID: 25605274 |
| Schizophrenia | Genetic variants in MCF2L associated with risk | PMID: 21743469 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Lung | 8.7 | Low |
| Breast | 6.5 | Low |
| Ovary | 9.1 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 | 11.4 | Breast cancer cell line |
| A549 | 9.8 | Lung cancer cell line |
| HEK293 | 7.2 | Embryonic kidney cell line |
| SH-SY5Y | 14.1 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1256A>G | missense | <0.01% | p.Tyr419Cys; uncertain significance |
| c.2047C>T | nonsense | <0.01% | p.Arg683*; loss of function |
| c.789_790insA | frameshift | <0.01% | p.Glu264Argfs*12; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants (e.g., p.Arg683*, p.Glu264Argfs*12) predicted to cause premature truncation and loss of GEF activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative variants described.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rho guanyl-nucleotide exchange factor activity |
| • cytoskeleton | • cell migration |
| • signal transduction |
Pathways
• Rho GTPase cycle
• Signaling by Rho family GTPases
• Axon guidance
Protein Summary
The MCF2L protein (UniProt O15068) is a guanine nucleotide exchange factor (GEF) that activates Rho GTPases such as RhoA and Rac1. It contains a Dbl homology (DH) domain and a pleckstrin homology (PH) domain, which are essential for its catalytic activity and membrane localization. MCF2L regulates actin cytoskeleton dynamics, cell adhesion, and migration. It is expressed in various tissues and is implicated in cancer progression and neurodevelopmental processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCF2L Knockout HEK293 Cell Line | EDJ-KQ2138 | Human | 23263 | Details Get a Quote |
| MCF2L2 Knockout HEK293 Cell Line | EDJ-KQ14217 | Human | 23101 | Details Get a Quote |
| MCF2L Knockout HeLa Cell Line | EDJ-KQ18161 | Human | 23263 | Details Get a Quote |
| MCF2L Knockout HCT 116 Cell Line | EDJ-KQ20993 | Human | 23263 | Details Get a Quote |
| MCF2L2 Knockout HeLa Cell Line | EDJ-KQ55685 | Human | 23101 | Details Get a Quote |
| MCF2L2 Knockout A-549 Cell Line | EDJ-KQ64184 | Human | 23101 | Details Get a Quote |
| MCF2L Knockout A-549 Cell Line | EDJ-KQ64210 | Human | 23263 | Details Get a Quote |
| MCF2L2 Knockout HCT 116 Cell Line | EDJ-KQ72627 | Human | 23101 | Details Get a Quote |
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