MTCL2: Microtubule Crosslinking Factor 2
A gene encoding a microtubule-associated protein involved in cytoskeletal organization and potential links to cancer and neurological disorders.
Gene Information Card
| Symbol | MTCL2 |
|---|---|
| Full Name | Microtubule Crosslinking Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 55121 ncbi.nlm.nih.gov/gene/55121 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9Y4B6 |
| OMIM ID | 617866 |
| HGNC ID | 26169 |
| Aliases | KIAA0802, MTCL2, FLJ20151 |
Description
MTCL2 (Microtubule Crosslinking Factor 2) encodes a protein that belongs to the microtubule-associated protein family. It is involved in microtubule organization, stabilization, and crosslinking, playing a role in cytoskeletal dynamics, cell division, and intracellular transport. The gene is located on chromosome 20q11.22 and is expressed in various tissues, with potential implications in cancer and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered MTCL2 expression may disrupt microtubule dynamics, affecting cell proliferation and migration. | COSMIC database reports somatic mutations in multiple cancer types; limited functional validation. |
| Neurological disorders | Microtubule dysfunction linked to neurodegeneration; MTCL2 variants may contribute to susceptibility. | No direct OMIM or ClinVar entries; inferred from microtubule biology. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Testis | 8.5 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| A549 | 7.2 | Lung carcinoma cell line |
| MCF7 | 6.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Glu412Lys) | Missense | 0.02% (COSMIC) | Unknown; predicted possibly damaging by in silico tools. |
| c.567_568del (p.Leu190fs) | Frameshift | 0.01% (COSMIC) | Likely loss of function; truncation of protein. |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu190fs) likely result in truncated, non-functional protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations in MTCL2.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding (GO:0008017) | • microtubule (GO:0005874) |
| • actin filament binding (GO:0051015) | • microtubule cytoskeleton organization (GO:0000226) |
| • centrosome (GO:0005813) |
Pathways
• Microtubule cytoskeleton organization (Reactome: R-HSA-190236)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
Protein Summary
The MTCL2 protein is a microtubule crosslinking factor that stabilizes microtubule networks and facilitates interactions with actin filaments. It localizes to centrosomes and mitotic spindles, contributing to cell division and intracellular transport. The protein contains multiple coiled-coil domains and a microtubule-binding region. Its expression is regulated in a tissue-specific manner, and alterations may impact cellular architecture and disease progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTCL2 Knockout HEK293 Cell Line | EDJ-KQ9807 | Human | 140710 | Details Get a Quote |
| MTCL2 Knockout A-549 Cell Line | EDJ-KQ36655 | Human | 140710 | Details Get a Quote |
| MTCL2 Knockout HCT 116 Cell Line | EDJ-KQ36656 | Human | 140710 | Details Get a Quote |
| MTCL2 Knockout HeLa Cell Line | EDJ-KQ36657 | Human | 140710 | Details Get a Quote |
