TECPR2 (tectonin beta-propeller repeat containing 2)

2014-11-01  

Identity

HGNC
LOCATION
14q32.31
LOCUSID
ALIAS
KIAA0329,SPG49
FUSION GENES

Other Information

Locus ID:

NCBI: 9895
MIM: 615000
HGNC: 19957
Ensembl: ENSG00000196663

Variants:

dbSNP: 9895
ClinVar: 9895
TCGA: ENSG00000196663
COSMIC: TECPR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196663ENST00000359520O15040
ENSG00000196663ENST00000558678O15040

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
231768242012Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.38
264310262015TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.36
265424662016TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.4
274066982016WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.1
306814372019Neuropathology-driven Whole-genome Sequencing Study Points to Novel Candidate Genes for Healthy Brain Aging.0

Citation

Dessen P

TECPR2 (tectonin beta-propeller repeat containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74610/tecpr2