TECPR2 Chromosome 14
Tectonin beta-propeller repeat containing 2
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What This Gene Does
The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Associated Conditions (6)
Hereditary spastic paraplegia 49
Hereditary spastic paraplegia
Inborn genetic diseases
TECPR2-related disorder
See cases
Sensory autonomic neuropathy with intellectual disability
Key Variants
RS138070234
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia, Hereditary spastic paraplegia 49
Health Risk
RS140791062
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia, Hereditary spastic paraplegia 49
Health Risk
RS141697267
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 49, Inborn genetic diseases, Hereditary spastic paraplegia 49
Health Risk
RS142318405
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia, Hereditary spastic paraplegia 49
Health Risk
RS144187959
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia, Hereditary spastic paraplegia 49
Health Risk
RS144870163
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 49, TECPR2-related disorder, Hereditary spastic paraplegia 49
Health Risk
RS144915346
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia, See cases
Health Risk
RS147312456
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
Health Risk
RS149584733
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia, Hereditary spastic paraplegia 49
Health Risk
RS186595127
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia, Hereditary spastic paraplegia 49
Health Risk
RS200792120
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia, Hereditary spastic paraplegia 49
Health Risk
RS201791953
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 49, Inborn genetic diseases, Hereditary spastic paraplegia 49
Health Risk
All Variants (111)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886043167 | Health Risk | Pathogenic | — |
| RS1259941860 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS1345546964 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS1359602238 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS1567327482 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 49, Hereditary spastic paraplegia, Hereditary spastic paraplegia 49 |
| RS1595123894 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS1888974364 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS1889895576 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139715925 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS765874018 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS772483312 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |