TOR1AIP2
Torsin 1A Interacting Protein 2
Gene Information Card
| Symbol | TOR1AIP2 |
|---|---|
| Full Name | torsin 1A interacting protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.2 |
| NCBI Gene ID | 163590 ncbi.nlm.nih.gov/gene/163590 |
| Ensembl ID | ENSG00000175040 |
| UniProt ID | Q8NFQ8 |
| OMIM ID | 614551 |
| HGNC ID | 29482 |
| Aliases | LAP1B, LAP1C, TOR1AIP2 |
Description
TOR1AIP2 encodes a protein that interacts with torsin-1A (TOR1A), an AAA+ ATPase localized to the nuclear envelope. The encoded protein is a component of the nuclear lamina and is involved in nuclear envelope integrity, nuclear positioning, and cell cycle regulation. Mutations in TOR1AIP2 have been associated with autosomal recessive limb-girdle muscular dystrophy and cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Limb-girdle muscular dystrophy autosomal recessive 25 (LGMDR25) | Loss-of-function mutations disrupt nuclear envelope integrity, leading to muscle fiber degeneration | PMID: 31064754 |
| Dilated cardiomyopathy | TOR1AIP2 deficiency impairs nuclear stability in cardiac myocytes | PMID: 31064754 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 3.1 | Low |
| Brain | 1.8 | Low |
| Kidney | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.0 | Moderate expression |
| HEK293 | 6.5 | Moderate expression |
| K562 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.568C>T (p.Arg190*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1_2delAG | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to reduced or absent protein, causing nuclear envelope defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nuclear envelope | • nuclear lamina |
| • protein binding | • ATPase binding |
| • nucleus |
Pathways
• Nuclear envelope breakdown and reassembly
• Nuclear positioning
Protein Summary
The TOR1AIP2 protein (also known as LAP1B) is a type II integral membrane protein of the inner nuclear membrane. It binds to torsin-1A and lamins, contributing to nuclear envelope architecture and mechanical stability. Isoforms LAP1B and LAP1C are generated by alternative splicing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOR1AIP2 Knockout HEK293 Cell Line | EDJ-KQ15885 | Human | 163590 | Details Get a Quote |
| TOR1AIP2 Knockout A-549 Cell Line | EDJ-KQ49106 | Human | 163590 | Details Get a Quote |
| TOR1AIP2 Knockout HCT 116 Cell Line | EDJ-KQ49107 | Human | 163590 | Details Get a Quote |
| TOR1AIP2 Knockout HeLa Cell Line | EDJ-KQ49108 | Human | 163590 | Details Get a Quote |
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