TRPM3 (transient receptor potential cation channel subfamily M member 3)

2015-02-01  

Identity

HGNC
TRPM3
LOCATION
9q21.12
LOCUSID
80036
ALIAS
GON-2,LTRPC3,MLSN2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80036
MIM: 608961
HGNC: 17992
Ensembl: ENSG00000083067

Variants:

dbSNP: 80036
ClinVar: 80036
TCGA: ENSG00000083067
COSMIC: TRPM3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000083067ENST00000357533A2A3F7
ENSG00000083067ENST00000358082A2A3F4
ENSG00000083067ENST00000360823A2A3F4
ENSG00000083067ENST00000361823Q9HCF6
ENSG00000083067ENST00000377097H0Y3D4
ENSG00000083067ENST00000377101Q504Y1
ENSG00000083067ENST00000377105G5E9G1
ENSG00000083067ENST00000377110Q9HCF6
ENSG00000083067ENST00000377111Q9HCF6
ENSG00000083067ENST00000396280H7BYP1
ENSG00000083067ENST00000396283Q4VXD4
ENSG00000083067ENST00000396285A2A3F3
ENSG00000083067ENST00000396292E9PBI7
ENSG00000083067ENST00000408909G5E9G1

Expression (GTEx)

0
5
10
15
20
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
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
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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383346492024A Cataract-Causing Mutation in the TRPM3 Cation Channel Disrupts Calcium Dynamics in the Lens.1
389171212024Novel characterization of endogenous transient receptor potential melastatin 3 ion channels from Gulf War Illness participants.0
383346492024A Cataract-Causing Mutation in the TRPM3 Cation Channel Disrupts Calcium Dynamics in the Lens.1
389171212024Novel characterization of endogenous transient receptor potential melastatin 3 ion channels from Gulf War Illness participants.0
362834092023Structural and functional analyses of a GPCR-inhibited ion channel TRPM3.13
366480662023Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.8
368047592023Role of novel de novo gain-of-function TRPM3 mutations in a spectrum of neurodevelopmental disorders.0
362834092023Structural and functional analyses of a GPCR-inhibited ion channel TRPM3.13
366480662023Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.8
368047592023Role of novel de novo gain-of-function TRPM3 mutations in a spectrum of neurodevelopmental disorders.0
343869962022A novel candidate gene in autosomal dominant facial pruritus.1
351468952022Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.4
352407322022TRPM3 in the eye and in the nervous system - from new findings to novel mechanisms.3
361817912022Computational and functional studies of the PI(4,5)P(2) binding site of the TRPM3 ion channel reveal interactions with other regulators.3
343869962022A novel candidate gene in autosomal dominant facial pruritus.1

Citation

Dessen P

TRPM3 (transient receptor potential cation channel subfamily M member 3)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/55070