TECPR2 tectonin beta-propeller repeat containing 2
Gene ID: 9895, updated on 5-Mar-2024Gene type: protein coding
Also known as: HSAN9; SPG49; KIAA0329
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- Go to complete Gene record for TECPR2
- Go to Variation Viewer for TECPR2 variants
Summary
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
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| Description | Tests |
|---|---|
| A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. GeneReviews: Not available | |
| Hereditary spastic paraplegia 49 MedGen: C3542549OMIM: 615031GeneReviews: TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability | See labs |
Genomic context
- Location:
- 14q32.31
- Sequence:
- Chromosome: 14; NC_000014.9 (102362941..102502477)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TECPR2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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