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

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 80036
Gene name Transient receptor potential cation channel subfamily M member 3
Gene symbol TRPM3
Synonyms (NCBI Gene)
CTRCT50GON-2LTRPC3MLSN2NEDFSS
Chromosome 9
Chromosome location 9q21.12-q21.13
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, an
miRNA miRNA information provided by mirtarbase database.
24
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (24)
miRTarBase ID miRNA Experiments Reference
MIRT438340 hsa-miR-204-5p qRT-PCRWestern blot 25517751
MIRT438340 hsa-miR-204-5p qRT-PCRWestern blot 25517751
MIRT573352 hsa-miR-4761-5p PAR-CLIP 20371350
MIRT573351 hsa-miR-6814-5p PAR-CLIP 20371350
MIRT573350 hsa-miR-1224-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005261 Function Monoatomic cation channel activity IDA 15824111
GO:0005262 Function Calcium channel activity IBA
GO:0005262 Function Calcium channel activity IDA 32343227
GO:0005262 Function Calcium channel activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608961 17992 ENSG00000083067
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCF6
Protein name Transient receptor potential cation channel subfamily M member 3 (Long transient receptor potential channel 3) (LTrpC-3) (LTrpC3) (Melastatin-2) (MLSN2)
Protein function Constitutively active, non-selective divalent cation-conducting channel that is permeable to Ca(2+), Mn(2+), and Mg(2+), with a high permeability for Ca(2+). However, can be enhanced by increasing temperature and by ligands, including the endoge
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18139 LSDAT_euk 153 → 443 SLOG in TRPM Family
PF00520 Ion_trans 896 → 1149 Ion transport protein Family
PF16519 TRPM_tetra 1240 → 1295 Tetramerisation domain of TRPM Domain
Tissue specificity 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 tub
Sequence 
MPEPWGTVYFLGIAQVFSFLFSWWNLEGVMNQADAPRPLNWTIRKLCHAAFLPSVRLLKA
QKSWIERAFYKRECVHIIPSTKDPHRCCCGRLIGQHVGLTPSISVLQNEKNESRLSRNDI
QSEKWSISKHTQLSPTDAFGTIEFQGGGHSNKAMYVRVSFDTKPDLLLHLMTKEWQLELP
KLLISVHGGLQNFELQPKLKQVFGKGLIKAAMTTGAWIFTGGVNTGVIRHVGDALKDHAS
KSRGKICTIGIAPWGIVENQEDLIGRDVVRPYQTMSNPMSKLTVLNSMHSHFILADNGTT
GKYGAEVKLRRQLEKHISLQKINTRCLPFFSLDSRLFYSFWGSCQLDSVGIGQGVPVVAL
IVEGGPNVISIVLEYLRDTPPVPVVVCDGSGRASDILAFGHKYSEEGGLINESLRDQLLV
TIQKTFTYTRTQAQHLFIILMECMKKKELITVFRMGSEGHQDIDLAILTALLKGANASAP
DQLSLALAWNRVDIARSQIFIYGQQWPVGSLEQAMLDALVLDRVDFVKLLIENGVSMHRF
LTISRLEELYNTRHGPSNTLYHLVRDVKKGNLPPDYRISLIDIGLVIEYLMGGAYRCNYT
RKRFRTLYHNLFGPKRPKALKLLGMEDDIPLRRGRKTTKKREEEVDIDLDDPEINHFPFP
FHELMVWAVLMKRQKMALFFWQHGEEAMAKALVACKLCKAMAHEASENDMVDDISQELNH
NSRDFGQLAVELLDQSYKQDEQLAMKLLTYELKNWSNATCLQLAVAAKHRDFIAHTCSQM
LLTDMWMGRLRMRKNSGLKVILGILLPPSILSLEFKNKDDMPYMSQAQEIHLQEKEAEEP
EKPTKEKEEEDMELTAMLGRNNGESSRKKDEEEVQSKHRLIPLGRKIYEFYNAPIVKFWF
YTLAYIGYLMLFNYIVLVKMERWPSTQEWIVISYIFTLGIEKMREILMSEPGKLLQKVKV
WLQEYWNVTDLIAILLFSVGMILRLQDQPFRSDGRVIYCVNIIYWYIRLLDIFGVNKYLG
PYVMMIGKMMIDMMYFVIIMLVVLMSFGVARQAILFPNEEPSWKLAKNIFYMPYWMIYGE
VFADQIDPPCGQNETREDGKIIQLPPCKTGAWIVPAIMACYLLVANILLVNLLIAVFNNT
FFEVKSISNQVWKFQRYQLIMTFHERPVLPPPLIIFSHMTMIFQHLCCRWRKHESDPDER
DYGLKLFITDDELKKVHDFEEQCIEEYFREKDDRFNSSNDERIRVTSERVENMSMRLEEV
NEREHSMKASLQTVDIRLAQLEDLIGRMATALERLTGLERAESNKIRSRTSSDCTDAAYI
VRQSSFNSQEGNTFKLQESIDPAGEETMSPTSPTLMPRMRSHSFYSVNMKDKGGIEKLES
IFKERSLSLHRATSSHSVAKEPKAPAAPANTLAIVPDSRRPSSCIDIYVSAMDELHCDID
PLDNSVNILGLGEPSFSTPVPSTAPSSSAYATLAPTDRPPSRSIDFEDITSMDTRSFSSD
YTHLPECQNPWDSEPPMYHTIERSKSSRYLATTPFLLEEAPIVKSHSFMFSPSRSYYANF
GVPVKTAEYTSITDCIDTRCVNAPQAIADRAAFPGGLGDKVEDLTCCHPEREAELSHPSS
DSEENEAKGRRATIAISSQEGDNSERTLSNNITVPKIERANSYSAEEPSAPYAHTRKSFS
ISDKLDRQRNTASLRNPFQRSKSSKPEGRGDSLSMRRLSRTSAFQSFESKHN
Sequence length 1732
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    TRP channels
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
86
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant non-syndromic intellectual disability Likely pathogenic; Pathogenic rs1564493599 RCV002287440
Birk-Barel syndrome Likely pathogenic; Pathogenic rs1564493599 RCV002289990
Global developmental delay Likely pathogenic; Pathogenic rs1564493599 RCV000766226
Intellectual disability Likely pathogenic; Pathogenic rs1564493599 RCV001199967
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cataract 50 with or without glaucoma Uncertain significance rs867503544, rs778849121, rs2538012248 RCV003152306
RCV005051443
RCV004566553
Developmental disorder Likely benign rs769122112 RCV003128026
Epileptic encephalopathy Uncertain significance rs150876089 RCV002244280
Neurodevelopmental disorder Likely benign; Uncertain significance rs1319189898, rs2041829797, rs760339927 RCV002272923
RCV002273116
RCV002472255
Show/Hide Text Mining Associations (29)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anterior segment mesenchymal dysgenesis Associate 25090642
Atrial Fibrillation Stimulate 28839241
Bipolar Disorder Associate 38303428
Cataract Associate 25090642
Cerebral Palsy Associate 37684057
Cerebrovascular Disorders Associate 27716384
COVID 19 Associate 36104591
Craniosynostoses Associate 34438093
Developmental Disabilities Associate 37684057
Diabetes Mellitus Associate 35665752