TMEM30A (transmembrane protein 30A)

2014-02-01 Affiliation

Identity

HGNC

TMEM30A

LOCATION

6q14.1

LOCUSID

55754

ALIAS

C6orf67,CDC50A

FUSION GENES

Show Gene Fusions

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)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

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)

Not detected

Low

Medium

High

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