MICALL2 Gene - MICAL Like 2
Comprehensive genomic and functional overview of MICALL2
Gene Information Card
| Symbol | MICALL2 |
|---|---|
| Full Name | MICAL like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 79739 ncbi.nlm.nih.gov/gene/79739 |
| Ensembl ID | ENSG00000105971 |
| UniProt ID | Q8IY33 |
| OMIM ID | 615727 |
| HGNC ID | 28698 |
| Aliases | MICAL-L2, MICAL2, FLJ12787 |
Description
MICALL2 (MICAL like 2) is a protein-coding gene located on chromosome 7p22.3. It encodes a member of the MICAL (molecule interacting with CasL) family of proteins, which are involved in cytoskeletal dynamics, cell migration, and vesicle trafficking. The protein contains a calponin homology (CH) domain and a LIM domain, and it interacts with Rab13 and other small GTPases to regulate junctional complexes and cell polarity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect cell migration and invasion via cytoskeletal remodeling | COSMIC, ClinVar |
| Intellectual disability (candidate) | Rare variants reported in neurodevelopmental cohorts; mechanism unclear | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Low |
| Lung | 8.5 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.3 | Low |
| Testis | 12.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| A549 | 7.5 | Lung cancer cell line |
| HEK293 | 11.2 | Embryonic kidney cell line |
| MCF7 | 6.9 | Breast cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown; predicted damaging by in silico tools |
| c.1543G>A (p.Gly515Ser) | Missense | <0.01% | Unknown; rare population variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
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)
Pathways
• Rab13-mediated vesicle trafficking
• Actin cytoskeleton regulation
• Cell junction assembly
Protein Summary
The MICALL2 protein (UniProt Q8IY33) is 1002 amino acids long and contains a calponin homology (CH) domain and a LIM domain. It localizes to cell junctions and interacts with Rab13 to regulate tight junction assembly and cell polarity. It also binds actin and modulates cytoskeletal dynamics, influencing cell migration and adhesion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MICALL2 Knockout HEK293 Cell Line | EDJ-KQ14259 | Human | 79778 | Details Get a Quote |
| MICALL2 Knockout A-549 Cell Line | EDJ-KQ43054 | Human | 79778 | Details Get a Quote |
| MICALL2 Knockout HCT 116 Cell Line | EDJ-KQ44267 | Human | 79778 | Details Get a Quote |
| MICALL2 Knockout HeLa Cell Line | EDJ-KQ44268 | Human | 79778 | Details Get a Quote |
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