TRPM4 (transient receptor potential cation channel subfamily M member 4)

2010-12-01  

Identity

HGNC
TRPM4
LOCATION
19q13.33
LOCUSID
54795
ALIAS
EKVP6,LTrpC4,PFHB1B,TRPM4B,hTRPM4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54795
MIM: 606936
HGNC: 17993
Ensembl: ENSG00000130529

Variants:

dbSNP: 54795
ClinVar: 54795
TCGA: ENSG00000130529
COSMIC: TRPM4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130529ENST00000252826Q8TD43
ENSG00000130529ENST00000427978Q8TD43
ENSG00000130529ENST00000595519M0QYK7
ENSG00000130529ENST00000597316M0R0H1
ENSG00000130529ENST00000598502M0QZ19
ENSG00000130529ENST00000598691M0R3H6
ENSG00000130529ENST00000598697M0QX92
ENSG00000130529ENST00000599628A0A087X0Z3

Expression (GTEx)

0
10
20
30
40
50
60
70
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

PathwaySourceExternal ID
Insulin secretionKEGGhsa04911
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
TRP channelsREACTOMER-HSA-3295583

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
164248992006The Ca2+-activated cation channel TRPM4 is regulated by phosphatidylinositol 4,5-biphosphate.110
127993672003Voltage dependence of the Ca2+-activated cation channel TRPM4.99
155506712004TRPM4 regulates calcium oscillations after T cell activation.95
161861072005Phosphatidylinositol 4,5-bisphosphate rescues TRPM4 channels from desensitization.84
155906412005Regulation of the Ca2+ sensitivity of the nonselective cation channel TRPM4.83
197268822009Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I.81
292175812018Structure of the human TRPM4 ion channel in a lipid nanodisc.65
158455512005The selectivity filter of the cation channel TRPM4.52
231602382012TRPM4 cation channel mediates axonal and neuronal degeneration in experimental autoimmune encephalomyelitis and multiple sclerosis.52
205624472010Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease.50

Citation

Dessen P

TRPM4 (transient receptor potential cation channel subfamily M member 4)

Atlas Genet Cytogenet Oncol Haematol. 2010-12-01

Online version: http://atlasgeneticsoncology.org/gene/51840/trpm4