LACTB2
Lactamase Beta 2: A Mitochondrial Endoribonuclease Involved in RNA Processing and Mitochondrial Homeostasis
Gene Information Card
| Symbol | LACTB2 |
|---|---|
| Full Name | Lactamase Beta 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q13.3 |
| NCBI Gene ID | 51110 ncbi.nlm.nih.gov/gene/51110 |
| Ensembl ID | ENSG00000147872 |
| UniProt ID | Q53H82 |
| OMIM ID | 616544 |
| HGNC ID | 16480 |
| Aliases | beta-lactamase-like protein 2, CGI-83, MGC2650 |
Description
LACTB2 encodes a mitochondrial endoribonuclease belonging to the metallo-beta-lactamase superfamily. The protein localizes to mitochondria and processes mitochondrial RNA, playing a role in mitochondrial homeostasis and RNA metabolism. It is ubiquitously expressed with highest levels in tissues with high metabolic activity. LACTB2 has been implicated in cancer cell proliferation and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, colorectal, lung) | LACTB2 overexpression promotes cell proliferation and invasion; knockdown reduces tumor growth in vitro and in vivo. | PMID: 25620004, PMID: 29367642 |
| Neurodegenerative disorders (Alzheimer's disease) | Altered LACTB2 expression affects mitochondrial RNA processing, contributing to mitochondrial dysfunction in neurons. | PMID: 31073040 |
| Mitochondrial diseases | Loss-of-function mutations impair mitochondrial RNA processing, leading to respiratory chain defects. | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 15.2 | Medium |
| Liver | 18.7 | Medium |
| Kidney | 14.3 | Medium |
| Testis | 20.1 | High |
| Skeletal muscle | 11.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 16.4 | High expression |
| HeLa | 14.2 | Medium expression |
| HepG2 | 18.9 | High expression |
| MCF7 | 12.1 | Medium expression |
| A549 | 15.6 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Loss of endoribonuclease activity; associated with mitochondrial dysfunction |
| c.544G>A (p.Gly182Arg) | Missense | <0.01% | Reduced protein stability; potential loss of function |
| c.782T>C (p.Leu261Pro) | Missense | <0.01% | Impaired mitochondrial localization |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg113Trp) reduce or abolish endoribonuclease activity, impairing mitochondrial RNA processing.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • endoribonuclease activity | • metal ion binding |
| • mitochondrion | • RNA processing |
| • mitochondrial RNA processing |
Pathways
• Mitochondrial RNA metabolism
• RNA degradation
Protein Summary
LACTB2 is a 288-amino acid mitochondrial endoribonuclease that cleaves single-stranded RNA. It contains a metallo-beta-lactamase domain and requires zinc ions for activity. The protein is involved in processing mitochondrial transcripts and maintaining mitochondrial function. It is ubiquitously expressed and has been linked to cancer cell proliferation and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LACTB2 Knockout HEK293 Cell Line | EDJ-KQ10922 | Human | 51110 | Details Get a Quote |
| LACTB2 Knockout A-549 Cell Line | EDJ-KQ38680 | Human | 51110 | Details Get a Quote |
| LACTB2 Knockout HCT 116 Cell Line | EDJ-KQ38681 | Human | 51110 | Details Get a Quote |
| LACTB2 Knockout HeLa Cell Line | EDJ-KQ38682 | Human | 51110 | Details Get a Quote |
