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... See more...

Aliases for TRPM3 Gene

Aliases for TRPM3 Gene

  • GeneCards Symbol: TRPM3 2
  • Transient Receptor Potential Cation Channel Subfamily M Member 3 2 3 4 5
  • LTRPC3 2 3 4 5
  • KIAA1616 2 4 5
  • GON-2 2 3 5
  • Long Transient Receptor Potential Channel 3 3 4
  • Melastatin-2 3 4
  • MLSN2 3 4
  • Transient Receptor Potential Cation Channel, Subfamily M, Member 3 2
  • Melastatin 2 2
  • EC 5.99.1.3 48
  • EC 2.3.1.31 48
  • LTrpC-3 4
  • LTrpC3 4

External Ids for TRPM3 Gene

Previous GeneCards Identifiers for TRPM3 Gene

  • GC09M064194
  • GC09M065245
  • GC09M066720
  • GC09M068607
  • GC09M070380
  • GC09M072339
  • GC09M073149
  • GC09M042990

Summaries for TRPM3 Gene

Entrez Gene Summary for TRPM3 Gene

  • 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]

GeneCards Summary for TRPM3 Gene

TRPM3 (Transient Receptor Potential Cation Channel Subfamily M Member 3) is a Protein Coding gene. Diseases associated with TRPM3 include Mulibrey Nanism and Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract. Among its related pathways are TRP channels and CREB Pathway. Gene Ontology (GO) annotations related to this gene include ion channel activity and cation channel activity. An important paralog of this gene is TRPM1.

UniProtKB/Swiss-Prot Summary for TRPM3 Gene

Calcium channel mediating constitutive calcium ion entry. Its activity is increased by reduction in extracellular osmolarity, by store depletion and muscarinic receptor activation. In addition, forms heteromultimeric ion channels with TRPM1 which are permeable for calcium and zinc ions (PubMed:21278253). ( TRPM3_HUMAN,Q9HCF6 )

Gene Wiki entry for TRPM3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB Summary , Rfam classification and piRNA Summary for TRPM3 Gene

Genomics for TRPM3 Gene

GeneHancer (GH) Regulatory Elements (see citations)

Promoters and enhancers for TRPM3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J071446 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 250.70 369.66 +0.3 0 2.2 ZNF600 ZIC2 REST MXD4 BHLHE40 SIN3A ZSCAN9 SMAD4 ZBTB48 EHMT2 lnc-C9orf85-7 TRPM3 piR-60985-132
GH09J071119 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 255.40 360.03 +325.7 13 3.4 POLR2A TCF12 SIN3A ZNF398 PKNOX1 TBP NANOG EZH2 CHD2 TRPM3 FR772910-009 LOC124902180 KLF9
GH09J070868 Promoter/Enhancer 1.3 RefSeq EPDnew Ensembl ENCODE 257.00 330.29 +578.6 18 2.4 ZNF341 JUND SCRT1 TRIM28 EZH2 CBX8 SCRT2 ZNF335 TRPM3 MIR204 lnc-KLF9-4 HSALNG0071800 KLF9
GH09J071445 Enhancer 0.3 Ensembl 250.70 64.02 +1.9 0 0.2 SCRT2 TRPM3 piR-60985-132
GH09J070599 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 6.90 9.67 +845.5 30 3.2 ZNF580 ATF2 ATF3 ZNF184 CTCF ZNF600 ZIC2 ZNF10 YY1 ZBTB10 LOC107984011 SMC5 PTAR1 KLF9 TRPM3 RF00017-7189 RN7SL726P lnc-SMC5-10

GeneHancers around TRPM3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRPM3

Top Transcription factor binding sites by QIAGEN in the TRPM3 gene promoter:
  • AREB6
  • ISGF-3
  • Meis-1
  • Meis-1a
  • Meis-1b
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Zic1
  • ZID

Genomic Locations for TRPM3 Gene

Latest Assembly
chr9:70,529,060-71,446,971
(GRCh38/hg38)
Size:
917,912 bases
Orientation:
Minus strand

Previous Assembly
chr9:73,143,976-74,061,887
(GRCh37/hg19 by Entrez Gene)
Size:
917,912 bases
Orientation:
Minus strand

chr9:73,143,979-74,061,820
(GRCh37/hg19 by Ensembl)
Size:
917,842 bases
Orientation:
Minus strand

Genomic View for TRPM3 Gene

Genes around TRPM3 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19)

Cytogenetic band:
TRPM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRPM3 Gene
Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPM3 Gene

Proteins for TRPM3 Gene

  • Protein details for TRPM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCF6-TRPM3_HUMAN
    Recommended name:
    Transient receptor potential cation channel subfamily M member 3
    Protein Accession:
    Q9HCF6
    Secondary Accessions:
    • A2A3F6
    • A9Z1Y7
    • Q5VW02
    • Q5VW03
    • Q5VW04
    • Q5W5T7
    • Q86SH0
    • Q86SH6
    • Q86UL0
    • Q86WK1
    • Q86WK2
    • Q86WK3
    • Q86WK4
    • Q86YZ9
    • Q86Z00
    • Q86Z01
    • Q9H0X2

    Protein attributes for TRPM3 Gene

    Size:
    1732 amino acids
    Molecular mass:
    197571 Da
    Quaternary structure:

    • Interacts with TRPM1; the interaction results in the formation of a heteromultimeric cation channel complex.
    Sequence caution:

    • The sequence CAB66480.2 differs from that shown. Reason: Miscellaneous discrepancy Cloning artifact in C-terminus. {ECO:0000305}

    Predicted three dimensional structure from AlphaFold

    Q9HCF6

    Alternative splice isoforms for TRPM3 Gene

neXtProt entry for TRPM3 Gene

Selected DME Specific Peptides for TRPM3 Gene

Q9HCF6:
  • RLTGLER
  • VARQAIL

Post-translational modifications for TRPM3 Gene

  • Modification sites at PhosphoSitePlus
    Q9HCF6
  • Modification sites at neXtProt
    NX_Q9HCF6

Antibodies for research

  • Abcam antibodies for TRPM3

Domains & Families for TRPM3 Gene

Gene Families for TRPM3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for TRPM3 Gene

Suggested Antigen Peptide Sequences for TRPM3 Gene

GenScript: Design optimal peptide antigens:
  • Transient receptor potential cation channel, subfamily M, member 3 (A2A3F0_HUMAN)
  • Transient receptor potential cation channel, subfamily M, member 3 (A2A3F1_HUMAN)
  • Transient receptor potential cation channel, subfamily M, member 3 (A2A3F5_HUMAN)
  • Transient receptor potential cation channel, subfamily M, member 3 (A2A3F7_HUMAN)
  • Transient receptor potential cation channel, subfamily M, member 3 (Q4VXD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HCF6

UniProtKB/Swiss-Prot:

TRPM3_HUMAN :
  • Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM3 sub-subfamily.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM3 sub-subfamily.
Genes that share domains with TRPM3: view

Function for TRPM3 Gene

Molecular function for TRPM3 Gene according to UniProtKB/Swiss-Prot

Function:
  • Calcium channel mediating constitutive calcium ion entry.
    Its activity is increased by reduction in extracellular osmolarity, by store depletion and muscarinic receptor activation.
    In addition, forms heteromultimeric ion channels with TRPM1 which are permeable for calcium and zinc ions (PubMed:21278253). TRPM3_HUMAN,Q9HCF6

Enzyme Numbers (IUBMB) for TRPM3 Gene

Phenotypes From GWAS Catalog for TRPM3 Gene

Gene Ontology (GO) - Molecular Function for TRPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 5 ion channel activity IEA
GO:0005227 3 5 enables calcium activated cation channel activity IEA
GO:0005261 3 5 enables cation channel activity IDA, IBA, IDA 15824111
GO:0005262 3 5 enables calcium channel activity TAS
Genes that share ontologies with TRPM3: view
Genes that share phenotypes with TRPM3: view

Human Phenotype Ontology for TRPM3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms
HP:0000002 Abnormality of body height Deviation from the norm of height with respect to that which is expected according to age and gender norms. Abnormality of body height
HP:0032792 Tonic seizure A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.
HP:0032794 Myoclonic seizure A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
HP:0000152 Abnormality of head or neck An abnormality of head and neck. Abnormality of head or neck; Head and neck abnormality
HP:0000234 Abnormality of the head An abnormality of the head. Abnormal head; Abnormality of the head; Head abnormality

Animal Models for TRPM3 Gene

MGI Knock Outs for TRPM3:

Animal Models for research

  • Taconic Biosciences Mouse Models for TRPM3

miRNA products for research

Clone products for research

No data available for NCBI Functional elements , Transcription Factor Targeted Genes and HOMER Transcription for TRPM3 Gene

Localization for TRPM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPM3 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRPM3 gene
Compartment Confidence
plasma membrane 5
lysosome 2
cytosol 2
endoplasmic reticulum 2
nucleus 2
mitochondrion 2
cytoskeleton 2
extracellular 2
golgi apparatus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TRPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 3 5 located_in plasma membrane TAS
GO:0005887 3 5 is_active_in integral component of plasma membrane IBA 21873635
GO:0016020 5 membrane IEA
GO:0016021 5 integral component of membrane IEA
Genes that share ontologies with TRPM3: view

Pathways & Interactions for TRPM3 Gene

Genes that share pathways with TRPM3: view

Pathways by source for TRPM3 Gene

1 Qiagen pathway for TRPM3 Gene
  • Intracellular Calcium Signaling

Additional Pathway Information for TRPM3 Gene

Interacting Proteins for TRPM3 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network for TRPM3
Selected Interacting proteins: ENSP00000366314 Q9HCF6-TRPM3_HUMAN for TRPM3 Gene via STRING IID

Symbol External ID(s) Details
CHCHD10
EGFR
OSM
ZRSR2
ACTL6B
ADCYAP1R1
AKAP17A
ASPM
C8orf44-SGK3
CACNA1S
DLG2
GLP1R
GNA11
GNAL
GNAO1
GNAQ
GNB1
GNG2
HSP90AA1
HSP90AB1
HSP90B1
ITPR1
ITPR2
ITPR3
MAGI1

Gene Ontology (GO) - Biological Process for TRPM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 5 ion transport IEA
GO:0006812 3 5 acts_upstream_of_or_within cation transport IDA, IEA 15824111
GO:0006816 5 calcium ion transport IEA
GO:0016048 3 5 involved_in detection of temperature stimulus IEA
GO:0030001 5 metal ion transport IEA
Genes that share ontologies with TRPM3: view

No data available for SIGNOR curated interactions for TRPM3 Gene

Drugs & Compounds for TRPM3 Gene

(16) Drugs for TRPM3 Gene - From: DrugBank, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Primidone 23 75 Approved, Vet_approved 23 Pharma inhibitor, Transporter Small Molecule, Anticonvulsants
Diclofenac 75 Approved, Vet_approved 23 Pharma COX inhibitor, Small Molecule, Anti-Inflammatory Agents, Non-Steroidal
Magnesium 75 Approved, Experimental, Investigational 23 Pharma
Maprotiline 75 Approved, Investigational 23 Pharma Small Molecule, Antidepressive Agents, Second-Generation
Mefenamic acid 75 Approved 23 Pharma Anti-inflammatory agent

(7) Additional Compounds for TRPM3 Gene - From: IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CIM0216
  • CIM-0216
epipregnanolone sulphate
  • epipregnanolone sulfate
Gd<sup>3+</sup>
  • gadolinium ion
La<sup>3+</sup>
  • lanthanum ion
Na<sup>+</sup>
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
7440-23-5
Genes that share compounds with TRPM3: view

Transcripts for TRPM3 Gene

mRNA/cDNA for TRPM3 Gene

23 REFSEQ mRNAs :
30 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

miRNA products for research

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for TRPM3 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - -
SP9: - - - -
SP10: -
SP11: - -
SP12: -
SP13: - -

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b
SP1: - -
SP2: -
SP3: -
SP4: -
SP5: -
SP6:
SP7: -
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for TRPM3 Gene

GeneLoc Exon Structure for
TRPM3

Expression for TRPM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRPM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRPM3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.4) and Brain - Cerebellum (x5.9).

Protein differential expression in normal tissues from HIPED for TRPM3 Gene

This gene is overexpressed in Kidney (35.8), Fetal gut (20.0), and Spinal cord (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TRPM3 Gene



Protein tissue co-expression partners for TRPM3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRPM3

SOURCE GeneReport for Unigene cluster for TRPM3 Gene:

Hs.47288

mRNA Expression by UniProt/SwissProt for TRPM3 Gene:

Q9HCF6-TRPM3_HUMAN
Tissue specificity: Expressed primarily in the kidney and, at lower levels, in brain, testis, ovary, pancreas and spinal cord. Expression in the brain and kidney was determined at protein level. In the kidney, expressed predominantly in the collecting tubular epithelium in the medulla, medullary rays, and periglomerular regions; in the brain, highest levels are found in the cerebellum, choroid plexus, the locus coeruleus, the posterior thalamus and the substantia nigra. Down-regulated in renal tumors compared to normal kidney.

Evidence on tissue expression from TISSUES for TRPM3 Gene

  • Nervous system(4.6)
  • Eye(2.8)
  • Kidney(2.8)
  • Pancreas(2.3)
  • Blood(2.2)
  • Muscle(2)

Bgee gene expression patterns for TRPM3 gene:

  • Expressed in pigmented layer of retina, dorsal motor nucleus of vagus nerve, medial globus pallidus and 139 other tissues.
Genes that share expression patterns with TRPM3: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TRPM3 Gene

Orthologs for TRPM3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPM3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TRPM3 28 29
  • 99.72 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TRPM3 29
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TRPM3 29
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TRPM3 28 29
  • 93.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Trpm3 28
  • 91.69 (n)
Mouse
(Mus musculus)
Mammalia Trpm3 28 16 29
  • 91.5 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TRPM3 29
  • 91 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TRPM3 28 29
  • 81.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TRPM3 29
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia trpm3 28
  • 76.68 (n)
Zebrafish
(Danio rerio)
Actinopterygii trpm3 28 29
  • 72.94 (n)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006825 28
  • 56.87 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta trpm 28
  • 56.63 (n)
Species where no ortholog for TRPM3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TRPM3 Gene

ENSEMBL:
Gene Tree for TRPM3 (if available)
TreeFam:
Gene Tree for TRPM3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRPM3: view image
Alliance of Genome Resources:
Additional Orthologs for TRPM3

Paralogs for TRPM3 Gene

Paralogs for TRPM3 Gene

(16) SIMAP similar genes for TRPM3 Gene using alignment to 13 proteins:

  • TRPM3_HUMAN
  • A2A3F3_HUMAN
  • A2A3F4_HUMAN
  • A2A3F7_HUMAN
  • E9PBI7_HUMAN
  • G5E9G1_HUMAN
  • H0Y3D4_HUMAN
  • H7BYP1_HUMAN
  • Q4VXD4_HUMAN
  • Q504Y1_HUMAN
  • Q6NW43_HUMAN
  • Q8TBK0_HUMAN
  • Q9H200_HUMAN
Genes that share paralogs with TRPM3: view

Variants for TRPM3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRPM3 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
1193351

Pathogenic: not provided

70,553,042(-) T/CNM_001366145.2(TRPM3):c.3376A>G (p.Asn1126Asp)
MISSENSE
rs1564493599 5 109

Pathogenic: Mulibrey Nanism

Pathogenic/Likely Pathogenic: TRPM3 related disorder; Intellectual disability; Global developmental delay; Seizure; not provided

70,598,463(-) C/TNM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
MISSENSE
rs767146880 5 109

Pathogenic: Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract

70,810,048(-) G/ANM_001366145.2(TRPM3):c.973+17799C>T
NON_CODING_TRANSCRIPT_VARIANT,INTRON
1343241

Likely Pathogenic: not provided

70,536,200(-) T/CNM_001366145.2(TRPM3):c.4913A>G (p.Asn1638Ser)
MISSENSE_VARIANT,INTRON
1516729

Likely Pathogenic: not provided

70,552,990(-) C/TNM_001366145.2(TRPM3):c.3428G>A (p.Arg1143Lys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TRPM3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TRPM3 Gene

Variant ID Type Subtype PubMed ID
nsv428219 CNV loss 18775914
nsv831616 CNV gain 17160897
nsv4185682 CNV deletion 32461652
nsv4481854 CNV alu insertion 32461652
esv3620580 CNV loss 21293372
nsv4185533 CNV deletion 32461652
nsv4564736 CNV line1 insertion 32461652
nsv3411654 CNV deletion 30661756
nsv4173339 CNV deletion 32461652
nsv614598 CNV loss 21841781
esv3305116 CNV mobile element insertion 20981092
esv3340007 CNV insertion 20981092
nsv4560042 CNV line1 insertion 32461652
nsv4483675 CNV alu insertion 32461652
nsv4180868 CNV deletion 32461652
esv3326854 CNV insertion 20981092
nsv4483261 CNV alu insertion 32461652
nsv510944 OTHER complex 20534489
nsv6556 CNV deletion 18451855
nsv4487814 CNV alu insertion 32461652
esv999856 CNV deletion 20482838
nsv499504 CNV loss 21111241
dgv4066n106 CNV deletion 24896259
nsv951526 CNV deletion 24416366
nsv1075247 CNV deletion 25765185
nsv3415875 CNV deletion 30661756
nsv508551 CNV deletion 20534489
esv8273 CNV gain 19470904
nsv4480736 CNV alu insertion 32461652
nsv4483769 CNV alu insertion 32461652
nsv4488635 CNV alu insertion 32461652
nsv3415681 CNV insertion 30661756
esv3369324 CNV insertion 20981092
esv3354373 CNV insertion 20981092
nsv3417603 CNV alu insertion 30661756
esv3381927 CNV insertion 20981092
esv3650449 CNV insertion 25597990
nsv4184656 CNV deletion 32461652
esv3651996 OTHER complex 25597990
nsv4561838 CNV line1 insertion 32461652
esv22135 CNV loss 19812545
esv3573259 CNV loss 25503493
nsv3412023 CNV insertion 30661756
esv2572392 CNV deletion 19546169
esv7523 CNV loss 19470904
esv1931744 CNV deletion 18987734
esv2738542 CNV deletion 23290073
esv3544889 CNV deletion 23714750
nsv1117889 CNV deletion 24896259
esv3678724 CNV deletion 25597990
nsv3400113 CNV alu deletion 30661756
nsv4173847 CNV deletion 32461652
esv1692487 CNV deletion 17803354
nsv521565 CNV loss 19592680
nsv6557 CNV insertion 18451855
dgv72n64 CNV loss 17921354
esv3620584 CNV loss 21293372
nsv4192046 CNV deletion 32461652
esv2659014 CNV deletion 23128226
nsv442152 CNV loss 18776908
nsv516833 CNV loss 19592680
nsv4186194 CNV deletion 32461652
nsv4494556 CNV alu insertion 32461652
nsv4487315 CNV alu insertion 32461652
nsv4188802 CNV deletion 32461652
nsv1043383 CNV gain 25217958
nsv4495129 CNV alu insertion 32461652
nsv4175657 CNV deletion 32461652
nsv4561633 CNV line1 insertion 32461652
esv2540002 CNV insertion 19546169
nsv4540733 CNV insertion 32461652
nsv3413046 CNV alu insertion 30661756
nsv4565642 CNV line1 insertion 32461652
nsv4526381 CNV duplication 32461652
nsv4184896 CNV deletion 32461652
nsv4191081 CNV deletion 32461652
nsv4479723 CNV alu insertion 32461652
nsv4570358 CNV line1 insertion 32461652
nsv3402551 CNV insertion 30661756
nsv6558 CNV deletion 18451855
esv3668253 CNV novel sequence insertion 25597990
nsv3408063 CNV alu insertion 30661756
esv1341286 CNV insertion 17803354
esv26755 CNV loss 19812545
esv3672478 OTHER sequence alteration 25597990
nsv4189954 CNV duplication 32461652
esv3620588 CNV loss 21293372
esv3650451 CNV insertion 25597990
nsv4482834 CNV alu insertion 32461652
esv3348557 CNV insertion 20981092
nsv3410444 CNV deletion 30661756
esv1118924 CNV deletion 17803354
nsv3416924 CNV deletion 30661756
nsv3411649 CNV deletion 30661756
esv3620590 CNV loss 21293372
esv3620591 CNV loss 21293372
nsv4311303 CNV insertion 32461652
nsv4178124 CNV deletion 32461652
nsv4493962 CNV alu insertion 32461652
nsv4488727 CNV alu insertion 32461652
esv3620593 CNV loss 21293372
nsv4481180 CNV alu insertion 32461652
nsv4483821 CNV alu insertion 32461652
nsv4192226 CNV duplication 32461652
nsv4183736 CNV deletion 32461652
nsv4527080 CNV duplication 32461652
esv3620594 CNV loss 21293372
nsv4485496 CNV alu insertion 32461652
nsv4175233 CNV deletion 32461652
nsv4181554 CNV deletion 32461652
dgv1483e214 CNV loss 21293372
esv3620597 CNV gain 21293372
nsv4484963 CNV alu insertion 32461652
nsv527618 CNV loss 19592680
dgv12749n54 CNV loss 21841781
nsv527238 CNV gain 19592680
nsv4180622 CNV deletion 32461652
esv2738543 CNV deletion 23290073
nsv466418 CNV loss 19166990
dgv487e215 CNV deletion 23714750
nsv1128493 CNV deletion 24896259
nsv4526220 CNV deletion 32461652
nsv4175063 CNV deletion 32461652
esv3620600 CNV loss 21293372
nsv4557456 CNV line1 insertion 32461652
esv2668275 CNV deletion 23128226
esv3620601 CNV loss 21293372
nsv4189426 CNV deletion 32461652
nsv522946 CNV loss 19592680
esv3650452 CNV insertion 25597990
esv3620602 CNV loss 21293372
esv3650454 CNV insertion 25597990
esv3620603 CNV loss 21293372
nsv4484240 CNV alu insertion 32461652
nsv4547861 CNV insertion 32461652
nsv4179740 CNV deletion 32461652
esv275323 CNV gain+loss 21479260
nsv4542725 CNV insertion 32461652
nsv4492541 CNV alu insertion 32461652
nsv4191779 CNV deletion 32461652
nsv614605 CNV loss 21841781
nsv512989 CNV insertion 21212237
esv2235219 CNV deletion 18987734
nsv3404583 CNV insertion 30661756
esv2738544 CNV deletion 23290073
nsv3401188 CNV insertion 30661756
esv3544894 CNV deletion 23714750
nsv3404732 CNV deletion 30661756
esv2738545 CNV deletion 23290073
nsv3416965 CNV deletion 30661756
nsv3400748 CNV insertion 30661756
esv3678725 CNV deletion 25597990
nsv3403097 CNV deletion 30661756
nsv1118062 CNV deletion 24896259
nsv3402113 CNV insertion 30661756
esv2658169 CNV deletion 23128226
nsv3413656 CNV deletion 30661756
nsv956133 CNV deletion 24416366
nsv3414126 CNV insertion 30661756
nsv3417084 CNV insertion 30661756
nsv4173392 CNV deletion 32461652
nsv4497577 CNV alu insertion 32461652
esv3620605 CNV loss 21293372
nsv4556509 CNV insertion 32461652
nsv471311 CNV loss 18288195
nsv521140 CNV gain 19592680
nsv528257 CNV gain 19592680
nsv614606 CNV gain 21841781
nsv4173299 CNV deletion 32461652
esv3544895 CNV deletion 23714750
nsv1042871 CNV loss 25217958
esv3620606 CNV loss 21293372
esv5643 CNV gain 19470904
nsv466419 CNV loss 19166990
dgv12750n54 CNV loss 21841781
nsv4184789 CNV deletion 32461652
esv3403208 CNV insertion 20981092
esv3426489 CNV insertion 20981092
esv3303519 CNV mobile element insertion 20981092
nsv4552850 CNV insertion 32461652
nsv3403860 CNV alu insertion 30661756
nsv982632 CNV deletion 23825009
esv2549981 CNV insertion 19546169
esv3373359 CNV duplication 20981092
nsv4188647 CNV deletion 32461652
nsv1117515 CNV tandem duplication 24896259
nsv3402619 CNV insertion 30661756
esv2738546 CNV deletion 23290073
nsv4185205 CNV deletion 32461652
nsv4191583 CNV deletion 32461652
esv3620608 CNV loss 21293372
dgv486n21 CNV loss 19592680
nsv4188886 CNV deletion 32461652
nsv4481978 CNV alu insertion 32461652
esv5339 CNV loss 18987735
esv2662565 CNV deletion 23128226
nsv4175869 CNV deletion 32461652
esv3620609 CNV loss 21293372
nsv4192048 CNV deletion 32461652
nsv4478990 CNV alu insertion 32461652
esv3339651 CNV insertion 20981092
nsv4498045 CNV alu insertion 32461652
nsv3413981 CNV alu insertion 30661756
nsv4486467 CNV alu insertion 32461652
esv3668254 CNV novel sequence insertion 25597990
nsv4526187 CNV deletion 32461652
nsv4179239 CNV deletion 32461652
nsv3418286 CNV insertion 30661756
nsv3407009 CNV insertion 30661756
nsv3399361 CNV deletion 30661756
esv3668255 CNV novel sequence insertion 25597990
nsv3409490 CNV insertion 30661756
esv1647581 CNV insertion 17803354
nsv3412401 CNV insertion 30661756
nsv4482419 CNV alu insertion 32461652
nsv4186390 CNV duplication 32461652
SVs/CNVs around TRPM3 on UCSC Golden Path with GeneCards custom tracks (GRCh38/hg38, GRCh37/hg19)

Variation tolerance for TRPM3 Gene

Residual Variation Intolerance Score: 2.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.35; 94.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRPM3 Gene

Human Gene Mutation Database (HGMD)
TRPM3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPM3
Leiden Open Variation Database (LOVD)
TRPM3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPM3 Gene

Disorders for TRPM3 Gene

(16) MalaCards diseases for TRPM3 Gene - From: ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
Mulibrey Nanism 109
  • 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
31278393
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract 109
  • Familial Progressive Retinal Dystrophy-Iris Coloboma-Congenital Cataract Syndrome
  • Retinal Dystrophy And Iris Coloboma With Or Without Cataract
  • RDICC
26056285
Autosomal Dominant Non-Syndromic Intellectual Disability 99
31278393
Luminal Breast Carcinoma B 64
  • Luminal B Breast Carcinoma
Dentin Sensitivity 64
  • Sensitive Dentin
- elite association - COSMIC cancer census association via MalaCards
Search TRPM3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TRPM3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
Cancer Target Discovery and Development
(CTD² Dashboard)
Genes that share disorders with TRPM3: view

No data available for UniProtKB/Swiss-Prot and GENATLAS for TRPM3 Gene

Publications for TRPM3 Gene

  1. Expression and characterization of human transient receptor potential melastatin 3 (hTRPM3). (PMID: 12672827) Lee N … Blanar MA (The Journal of biological chemistry 2003) 3 4 21
  2. De novo substitutions of TRPM3 cause intellectual disability and epilepsy. (PMID: 31278393) Dyment DA … Lines MA (European journal of human genetics : EJHG 2019) 3 69
  3. Transient receptor potential melastatin 1 (TRPM1) is an ion-conducting plasma membrane channel inhibited by zinc ions. (PMID: 21278253) Lambert S … Oberwinkler J (The Journal of biological chemistry 2011) 3 4
  4. Pregnenolone sulphate- and cholesterol-regulated TRPM3 channels coupled to vascular smooth muscle secretion and contraction. (PMID: 20360246) Naylor J … Beech DJ (Circulation research 2010) 3 21
  5. Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. (PMID: 20855565) Peloso GM … Brousseau ME (Journal of lipid research 2010) 3 39

Products for TRPM3 Gene

Sources for TRPM3 Gene