TRPM3 - transient receptor potential cation channel subfamily M member 3 Gene

Also Known as GON-2; MLSN2; LTRPC3

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 80036

About TRPM3

Cytogenetic location: 9q21.12-q21.13 Genomic coordinates (GRCh38): 9:70,529,060-71,446,971 (from NCBI)

This gene has 28 transcripts (splice variants), 224 orthologues, 7 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 3.0), brain (RPKM 0.8) and 2 other tissues.

Summary

The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

TRPM3 Products (23)

mRNA	Protein	Name
NM_001007470.3	NP_001007471.1	transient receptor potential cation channel subfamily M member 3 isoform c
NM_001007471.4	NP_001007472.2	transient receptor potential cation channel subfamily M member 3 isoform k
NM_001366141.2	NP_001353070.1	transient receptor potential cation channel subfamily M member 3 isoform i
NM_001366142.2	NP_001353071.1	transient receptor potential cation channel subfamily M member 3 isoform j
NM_001366143.2	NP_001353072.1	transient receptor potential cation channel subfamily M member 3 isoform w
NM_001366144.2	NP_001353073.1	transient receptor potential cation channel subfamily M member 3 isoform l
NM_001366145.2	NP_001353074.1	transient receptor potential cation channel subfamily M member 3 isoform m
NM_001366146.2	NP_001353075.1	transient receptor potential cation channel subfamily M member 3 isoform n
NM_001366147.2	NP_001353076.1	transient receptor potential cation channel subfamily M member 3 isoform o
NM_001366148.2	NP_001353077.1	transient receptor potential cation channel subfamily M member 3 isoform p
NM_001366149.2	NP_001353078.1	transient receptor potential cation channel subfamily M member 3 isoform q
NM_001366150.2	NP_001353079.1	transient receptor potential cation channel subfamily M member 3 isoform r
NM_001366151.2	NP_001353080.1	transient receptor potential cation channel subfamily M member 3 isoform s
NM_001366152.2	NP_001353081.1	transient receptor potential cation channel subfamily M member 3 isoform t
NM_001366153.2	NP_001353082.1	transient receptor potential cation channel subfamily M member 3 isoform u
NM_001366154.2	NP_001353083.1	transient receptor potential cation channel subfamily M member 3 isoform v
NM_020952.6	NP_066003.3	transient receptor potential cation channel subfamily M member 3 isoform a
NM_024971.7	NP_079247.5	transient receptor potential cation channel subfamily M member 3 isoform b
NM_206944.5	NP_996827.3	transient receptor potential cation channel subfamily M member 3 isoform d
NM_206945.5	NP_996828.3	transient receptor potential cation channel subfamily M member 3 isoform e
NM_206946.5	NP_996829.3	transient receptor potential cation channel subfamily M member 3 isoform f
NM_206947.5	NP_996830.3	transient receptor potential cation channel subfamily M member 3 isoform g
NM_206948.4	NP_996831.1	transient receptor potential cation channel subfamily M member 3 isoform h

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables calcium channel activity	IDA IDA: Inferred from direct assay	32343227	GOA
enables monoatomic cation channel activity	IDA IDA: Inferred from direct assay	15824111	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	32427099	GOA
acts upstream of or within monoatomic cation transport	IDA IDA: Inferred from direct assay	15824111	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TRPM3 Protein Structure

Ion_trans

0
300
600
900
1200
1500
1707 a.a.

Protein Preferred Names	Protein Names
transient receptor potential cation channel subfamily M member 3	long transient receptor potential channel 3

関連疾患

Diseases	Alias
Mulibrey Nanism	MUL Muscle-Liver-Brain-Eye Nanism Pericardial Constriction And Growth Failure Perheentupa Syndrome Mulibrey Growth Disorder Mulibrey Nanism Syndrome Pericardial Constriction With Growth Failure Nanism Mulibrey
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Familial Progressive Retinal Dystrophy-Iris Coloboma-Congenital Cataract Syndrome Retinal Dystrophy And Iris Coloboma With Or Without Cataract RDICC
Autosomal Dominant Non-Syndromic Intellectual Disability
Luminal Breast Carcinoma B	Luminal B Breast Carcinoma
Dentin Sensitivity	Sensitive Dentin
Anterior Segment Dysgenesis 5	Anterior Segment Dysgenesis 5, Multiple Subtypes ASGD5 Dysgenesis, Anterior Segment, Type 5, Multiple Subtypes
Exocervical Carcinoma	Carcinoma Of Exocervix Carcinoma Of The Exocervix
Familial Episodic Pain Syndrome	Feps
Episodic Pain Syndrome, Familial, 1	FEPS1 Familial Episodic Pain Syndrome With Predominantly Upper Body Involvement Familial Episodic Pain Syndrome 1
Hyperhidrosis, Gustatory	Frey Syndrome Gustatory Sweating Auriculotemporal Nerve Syndrome Gustatory Hyperhidrosis Frey'S Syndrome Sweating, Gustatory HYPRG Baillarger Syndrome Hyperhidrosis Gustatory Auriculotemporal Syndrome
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Olmsted Syndrome Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques Palmoplantar And Periorificial Keratoderma Olms
Otosclerosis	Otospongiosis
Mucolipidosis Iv	Mucolipidosis Type Iv ML4 Sialolipidosis Mucolipidosis Type 4 Ganglioside Sialidase Deficiency Mliv Ml Iv Berman Syndrome Ganglioside Neuraminidase Deficiency Ml 4 Mucolipidosis 4 Type Iv Mucolipidosis Gangliosidoses
Chronic Fatigue Syndrome	Myalgic Encephalomyelitis Postviral Fatigue Syndrome Cfs Myalgic Encephalitis Encephalomyelitis, Myalgic Chronic Fatigue Fatigue Syndrome, Chronic Benign Myalgic Encephalomyelitis Akureyri Akureyri Disease Cfs - [Chronic Fatigue Syndrome] Epidemic Neuromyasthenia Myalgic Encephalomyelitis Syndrome Me - [Myalgic Encephalomyelitis] Pvfs - [Postviral Fatigue Syndrome] Neuromyasthenia Iceland Disease Icelandic Disease
Kabuki Syndrome 1	Kabuki Syndrome Niikawa-Kuroki Syndrome Kabuki Make-Up Syndrome Kms KABUK1 Kabuki Make Up Syndrome Nks Kabuki Makeup Syndrome Kabuki Syndrome, Type 1
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-17386	Rosiglitazone	Modulator	99.94%	Yes
HY-17386A	Rosiglitazone hydrochloride	Modulator	99.81%	Yes
HY-17386B	Rosiglitazone potassium	Modulator	99.13%	Yes

Clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Phase
HY-182466	Ponometrep	Antagonist	99.28%	Phase 2

Pre-clinical Phase

Bioactive Molecules (5)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-110220	CIM0216	Agonist	99.94%	Unkown
HY-132187	Sphingosylphosphorylcholine	Activator	99.50%	Unkown
HY-108451	Ononetin	Antagonist	99.54%	Unkown
HY-W089922	D-erythro-Sphingosine hydrochloride	Activator	99.95%	Unkown
HY-18101	BD-1063	Inhibitor	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	TRPM3	VGNC	VGNC:79104
Canis familiaris	TRPM3	VGNC	VGNC:47874
Rattus norvegicus	TRPM3	RGD	RGD:1304888
Felis catus	TRPM3	VGNC	VGNC:66589
Bos taurus	TRPM3	VGNC	VGNC:55085
Mus musculus	TRPM3	MGD	MGI:2443101
Others	TRPM3	NCBI