TECPR2
Tectonin Beta-Propeller Repeat Containing 2
Gene Information Card
| Symbol | TECPR2 |
|---|---|
| Full Name | Tectonin Beta-Propeller Repeat Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.31 |
| NCBI Gene ID | 79155 ncbi.nlm.nih.gov/gene/79155 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q6P9B9 |
| OMIM ID | 615000 |
| HGNC ID | 25757 |
| Aliases | KIAA1648, SPG49 |
Description
TECPR2 encodes a protein containing tectonin beta-propeller repeats, involved in autophagy and lysosomal function. Mutations in this gene are associated with hereditary spastic paraplegia type 49 (SPG49) and other neurodegenerative conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 49 (SPG49) | Loss-of-function mutations impair autophagy, leading to axonal degeneration | ClinVar, OMIM |
| Autism Spectrum Disorder | Rare variants may disrupt synaptic autophagy | ClinVar |
| Intellectual Disability | Biallelic mutations cause neurodevelopmental delay | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Testis | 3.8 | Low |
| Lung | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 4.5 | Neuronal model |
| HeLa | 3.0 | Cervical cancer |
| HEK293 | 2.8 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1312C>T (p.Arg438*) | Nonsense | <0.01% | Loss of function, associated with SPG49 |
| c.2269G>A (p.Gly757Arg) | Missense | <0.01% | Likely pathogenic, disrupts protein stability |
| c.3340_3341del (p.Leu1114Valfs*3) | Frameshift | <0.01% | Loss of function, causes premature truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and impaired autophagy.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • protein binding |
| • lysosomal membrane |
Pathways
• Autophagy
• Lysosomal degradation
Protein Summary
TECPR2 is a 1345-amino acid protein with multiple beta-propeller domains, localized to the lysosomal membrane, and essential for autophagosome-lysosome fusion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TECPR2 Knockout HEK293 Cell Line | EDJ-KQ6811 | Human | 9895 | Details Get a Quote |
| TECPR2 Knockout A-549 Cell Line | EDJ-KQ31321 | Human | 9895 | Details Get a Quote |
| TECPR2 Knockout HCT 116 Cell Line | EDJ-KQ31322 | Human | 9895 | Details Get a Quote |
| TECPR2 Knockout HeLa Cell Line | EDJ-KQ31323 | Human | 9895 | Details Get a Quote |
