Identity
HGNC
LOCATION
1q42.12
LOCUSID
ALIAS
HLD19,KIAA0792
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: 9725
MIM: 618685
HGNC: 29118
Ensembl: ENSG00000196187
Variants:
dbSNP: 9725
ClinVar: 9725
TCGA: ENSG00000196187
COSMIC: TMEM63A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000196187 | ENST00000366835 | O94886 |
| ENSG00000196187 | ENST00000366835 | A0A024R3T3 |
| ENSG00000196187 | ENST00000436966 | X6RI56 |
| ENSG00000196187 | ENST00000537914 | Q2HIZ8 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Immune System | REACTOME | R-HSA-168256 |
| Innate Immune System | REACTOME | R-HSA-168249 |
| Neutrophil degranulation | REACTOME | R-HSA-6798695 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38189136 | 2024 | Stretch response of the mechano-gated channel TMEM63A in membrane patches and single cells. | 0 |
| 38217391 | 2024 | A monomeric structure of human TMEM63A protein. | 1 |
| 38189136 | 2024 | Stretch response of the mechano-gated channel TMEM63A in membrane patches and single cells. | 0 |
| 38217391 | 2024 | A monomeric structure of human TMEM63A protein. | 1 |
| 33785861 | 2021 | Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation. | 8 |
| 33785861 | 2021 | Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation. | 8 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
Citation
Dessen P
TMEM63A (transmembrane protein 63A)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54714/tmem63a-(transmembrane-protein-63a)
