Tbio TECPR2 Tectonin beta-propeller repeat-containing protein 2

Protein Summary

Description

Probably plays a role as positive regulator of autophagy. 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]

Uniprot Accession IDs

• O15040
• A5PKY3
• A6NFY9
• A7E2X3
• H0YMM9
• Q9UEG6

Gene Name

• TECPR2

Ensembl ID

• ENST00000359520
• ENSP00000352510
• ENSG00000196663
• ENST00000558678
• ENSP00000453671

Symbol

• KIAA0297
• KIAA0329
• SPG49
• KIAA0329

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.86
protein domain	0.85
virus perturbation	0.68
cell type or tissue	0.66
cell line	0.62

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 16.09   (req: < 5)

Gene RIFs: 8   (req: <= 3)

Antibodies: 33   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 16.09   (req: >= 5)

Gene RIFs: 8   (req: > 3)

Antibodies: 33   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Term: 1

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0