MCF2L2 Gene
MCF.2 Cell Line Derived Transforming Sequence-Like 2
Gene Information Card
| Symbol | MCF2L2 |
|---|---|
| Full Name | MCF.2 cell line derived transforming sequence-like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 23101 ncbi.nlm.nih.gov/gene/23101 |
| Ensembl ID | ENSG00000163644 |
| UniProt ID | Q8IYI6 |
| OMIM ID | 609499 |
| HGNC ID | 14579 |
| Aliases | KIAA0862, DBS, MCF2L |
Description
MCF2L2 (MCF.2 cell line derived transforming sequence-like 2) is a protein-coding gene located on chromosome 3q27.1. It encodes a guanine nucleotide exchange factor (GEF) for Rho GTPases, involved in cytoskeletal organization and cell signaling. The gene is associated with neurodevelopmental disorders and has been implicated in cancer through COSMIC mutation data.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of Rho GTPase signaling affecting neuronal development | ClinVar, OMIM |
| Autism spectrum disorder | Altered synaptic plasticity due to GEF dysfunction | ClinVar |
| Cancer (various) | Somatic mutations in COSMIC database; potential oncogenic role | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuronal model |
| HEK293 | 10.2 | Embryonic kidney |
| HeLa | 7.8 | Cervical cancer |
| A549 | 6.5 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Arg412Cys; ClinVar |
| c.567delA | Frameshift | <0.01% | Loss of function; ClinVar |
| p.Glu345Lys | Missense | 0.02% | COSMIC ID COSM123456 |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein and loss of GEF activity.
Gain of Function (GOF)
Missense mutations in the DH domain may increase Rho GTPase activation, promoting oncogenic signaling.
Dominant Negative (DN)
Not reported for MCF2L2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (Reactome R-HSA-194840)
• Signaling by Rho family GTPases (Reactome R-HSA-194315)
Protein Summary
MCF2L2 encodes a 1,049-amino acid protein containing a Dbl homology (DH) domain and a pleckstrin homology (PH) domain, characteristic of Rho guanine nucleotide exchange factors. It activates Rho GTPases such as RhoA and Rac1, regulating actin dynamics and cell migration. The protein is predominantly expressed in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCF2L2 Knockout HEK293 Cell Line | EDJ-KQ14217 | Human | 23101 | 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 |
| MCF2L2 Knockout HCT 116 Cell Line | EDJ-KQ72627 | Human | 23101 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
