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.

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 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
Displaying Records 1 To 4 Of 4 Records
Contact Us
*
*
*
*
How did you hear about us: