Tectonin Beta-Propeller Repeat-Containing Protein 2

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OMIM Number

615000

NCBI Gene ID

9895

Uniprot ID

O15040

Length

139,537 bases

No. of Exons

20

No. of isoforms

2

Protein Name

Tectonin beta-propeller repeat-containing protein 2

Molecular Mass

153848 Da

Amino Acid Count

1411

Genomic Location

chr14:102,362,940-102,502,476

Gene Map Locus
14q32.31

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_014844.5:c.3418T>GUnited Arab EmiratesNC_000014.9:g.102452405T>GUncertain SignificanceNeuropathy, Hereditary Sensory and Autonomic, Type IX, with Developmental DelayNG_042851.1:g.94494T>G; NM_014844.5:c.3418T>G; NP_055659.2:p.Trp1140Gly1890167079972711
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