Identity
HGNC
LOCATION
6q14.1
LOCUSID
ALIAS
C6orf67,CDC50A
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: 55754
MIM: 611028
HGNC: 16667
Ensembl: ENSG00000112697
Variants:
dbSNP: 55754
ClinVar: 55754
TCGA: ENSG00000112697
COSMIC: TMEM30A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000112697 | ENST00000230461 | Q9NV96 |
| ENSG00000112697 | ENST00000370050 | Q9NV96 |
| ENSG00000112697 | ENST00000475111 | Q9NV96 |
| ENSG00000112697 | ENST00000518161 | E5RG19 |
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 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38557174 | 2024 | Deletion of the TMEM30A gene enables leukemic cell evasion of NK cell cytotoxicity. | 0 |
| 38557174 | 2024 | Deletion of the TMEM30A gene enables leukemic cell evasion of NK cell cytotoxicity. | 0 |
| 33616375 | 2023 | CircTMEM30A/hsa-miR-130a-3p regulates TNFα and promotes the malignant progression of COPD with primary lung cancer. | 5 |
| 33616375 | 2023 | CircTMEM30A/hsa-miR-130a-3p regulates TNFα and promotes the malignant progression of COPD with primary lung cancer. | 5 |
| 34664668 | 2022 | CDC50A is required for aminophospholipid transport and cell fusion in mouse C2C12 myoblasts. | 10 |
| 34664668 | 2022 | CDC50A is required for aminophospholipid transport and cell fusion in mouse C2C12 myoblasts. | 10 |
| 34080006 | 2021 | Loss of phosphatidylserine flippase β-subunit Tmem30a in podocytes leads to albuminuria and glomerulosclerosis. | 6 |
| 34080006 | 2021 | Loss of phosphatidylserine flippase β-subunit Tmem30a in podocytes leads to albuminuria and glomerulosclerosis. | 6 |
| 32094924 | 2020 | TMEM30A loss-of-function mutations drive lymphomagenesis and confer therapeutically exploitable vulnerability in B-cell lymphoma. | 30 |
| 32493773 | 2020 | Crystal structure of a human plasma membrane phospholipid flippase. | 27 |
| 32094924 | 2020 | TMEM30A loss-of-function mutations drive lymphomagenesis and confer therapeutically exploitable vulnerability in B-cell lymphoma. | 30 |
| 32493773 | 2020 | Crystal structure of a human plasma membrane phospholipid flippase. | 27 |
| 30814335 | 2019 | TMEM30A deficiency in endothelial cells impairs cell proliferation and angiogenesis. | 11 |
| 30814335 | 2019 | TMEM30A deficiency in endothelial cells impairs cell proliferation and angiogenesis. | 11 |
| 29276178 | 2018 | The CDC50A extracellular domain is required for forming a functional complex with and chaperoning phospholipid flippases to the plasma membrane. | 19 |
Citation
Dessen P
TMEM30A (transmembrane protein 30A)
Atlas Genet Cytogenet Oncol Haematol. 2014-02-01
Online version: http://atlasgeneticsoncology.org/gene/53694
