Identity
HGNC
LOCATION
14q32.31
LOCUSID
ALIAS
KIAA0329,SPG49
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9895
MIM: 615000
HGNC: 19957
Ensembl: ENSG00000196663
Variants:
dbSNP: 9895
ClinVar: 9895
TCGA: ENSG00000196663
COSMIC: TECPR2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000196663 | ENST00000359520 | O15040 |
| ENSG00000196663 | ENST00000558678 | O15040 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34933910 | 2022 | Multimodal bioinformatic analyses of the neurodegenerative disease-associated TECPR2 gene reveal its diverse roles. | 0 |
| 34933910 | 2022 | Multimodal bioinformatic analyses of the neurodegenerative disease-associated TECPR2 gene reveal its diverse roles. | 0 |
| 33213269 | 2021 | Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2. | 13 |
| 33847017 | 2021 | Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. | 14 |
| 33213269 | 2021 | Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2. | 13 |
| 33847017 | 2021 | Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. | 14 |
| 30681437 | 2019 | Neuropathology-driven Whole-genome Sequencing Study Points to Novel Candidate Genes for Healthy Brain Aging. | 0 |
| 30681437 | 2019 | Neuropathology-driven Whole-genome Sequencing Study Points to Novel Candidate Genes for Healthy Brain Aging. | 0 |
| 26542466 | 2016 | TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. | 18 |
| 27406698 | 2016 | WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease. | 5 |
| 26542466 | 2016 | TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. | 18 |
| 27406698 | 2016 | WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease. | 5 |
| 26431026 | 2015 | TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export. | 67 |
| 26431026 | 2015 | TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export. | 67 |
| 23176824 | 2012 | Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. | 67 |
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-(tectonin-beta-propeller-repeat-containing-2)
