Gene: TECPR2

Alternate names for this Gene: KIAA0329|SPG49

Gene 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.31

Description of this Gene: tectonin beta-propeller repeat containing 2

Type of Gene: protein-coding

rs150571175 in TECPR2 gene and Birdshot chorioretinopathy PMID 24957906 2014 A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.

rs1190545 in TECPR2 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs750908377 in TECPR2 gene and SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE PMID 26542466 2016 TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

PMID 23176824 2012 Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

PMID 26431026 2015 TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.