TECPR2

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]

Description

Tectonin beta-propeller repeat containing 2

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nucleoli, Centrosome

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

14 (102362941 - 102502477)

Ensembl ID

ENSG00000196663  (ver. 103.38)

Orthologs

Mouse Tecpr2: ENSMUSG00000021275

UniProt

O15040

neXtProt

NX_O15040

Human splice variants
Mouse splice variants

Protein structure