MAP1LC3B2 Gene - Microtubule Associated Protein 1 Light Chain 3 Beta 2

Essential autophagy-related gene with roles in cellular homeostasis and disease

Gene Information Card

Symbol MAP1LC3B2
Full Name Microtubule Associated Protein 1 Light Chain 3 Beta 2
Gene Type Protein coding
Chromosomal Location 12q24.22
NCBI Gene ID 643246 ncbi.nlm.nih.gov/gene/643246
Ensembl ID ENSG00000178971
UniProt ID Q9GZQ8
OMIM ID 609604
HGNC ID 29800
Aliases LC3B2, ATG8F, MAP1LC3B, LC3B

Description

MAP1LC3B2 (Microtubule Associated Protein 1 Light Chain 3 Beta 2) is a protein-coding gene that encodes a member of the ATG8 family of ubiquitin-like proteins. This protein is essential for autophagy, a cellular degradation process that removes damaged organelles and proteins. MAP1LC3B2 is conjugated to phosphatidylethanolamine and localizes to autophagosomal membranes, serving as a key marker for autophagic activity. It is involved in cargo recognition and autophagosome formation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Dysregulation of autophagy; altered LC3B2 expression affects tumor suppression or progression PMID: 25643397
Neurodegenerative disorders (e.g., Alzheimer's disease) Impaired autophagy leads to accumulation of toxic protein aggregates PMID: 22966423
Inflammatory bowel disease Autophagy defects in intestinal epithelium; MAP1LC3B2 variants associated with Crohn's disease PMID: 21102463

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Heart 10.2 Medium
Liver 8.9 Low
Kidney 11.3 Medium
Lung 9.7 Low
Skeletal muscle 7.4 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.3 High expression
HEK293 13.8 High expression
SH-SY5Y 11.2 Medium expression
MCF7 9.5 Low expression
HepG2 10.1 Medium expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense <0.01% Loss of start codon; likely loss of function
c.214C>T (p.Arg72Trp) Missense <0.01% Unknown functional effect
c.361G>A (p.Gly121Ser) Missense <0.01% Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

Loss-of-function mutations in MAP1LC3B2 are rare and may impair autophagy, potentially contributing to cellular stress and disease susceptibility.

Gain of Function (GOF)

No gain-of-function mutations have been reported for MAP1LC3B2.

Dominant Negative (DN)

No dominant-negative mutations have been described for MAP1LC3B2.

Pathways

Autophagy - animal (KEGG: hsa04140)
Mitophagy (Reactome: R-HSA-5205647)
Selective autophagy (Reactome: R-HSA-9663891)

Protein Summary

MAP1LC3B2 is a 125-amino acid protein (14.6 kDa) belonging to the ATG8 family. It contains a ubiquitin-like domain and a C-terminal glycine that is conjugated to phosphatidylethanolamine during autophagy. The protein is essential for autophagosome elongation and cargo recruitment. It is widely expressed and serves as a standard marker for autophagy detection.

Related Products

Product name Cat.No. Species Gene ID
MAP1LC3B2 Knockout HEK293 Cell Line EDJ-KQ858 Human 643246 Details Get a Quote
MAP1LC3B2 Knockout A-549 Cell Line EDJ-KQ20992 Human 643246 Details Get a Quote
MAP1LC3B2 Knockout HCT 116 Cell Line EDJ-KQ20994 Human 643246 Details Get a Quote
MAP1LC3B2 Knockout HeLa Cell Line EDJ-KQ20995 Human 643246 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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