TECPR2

Chr 14

tectonin beta-propeller repeat containing 2

Also known as: HSAN9, KIAA0329, SPG49

NCBI Gene: 9895 ENSG00000196663 UniProt: O15040

The TECPR2 protein functions as a positive regulator of autophagy, the cellular process that degrades damaged organelles and proteins. Autosomal recessive mutations cause hereditary sensory and autonomic neuropathy type IX with developmental delay, affecting both the peripheral nervous system and early neurodevelopment. The gene is highly constrained against loss-of-function variation (LOEUF 0.346), indicating that complete loss of protein function is likely not well tolerated.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeuropathy, hereditary sensory and autonomic, 9, with developmental delay

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.35

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — TECPR2