MLSN2
entrez
80036
canonical
uniprot
Q9HCF6
canonical
ensembl
ENSG00000083067
resolver
ensp
ENSP00000350140
resolver
ensp
ENSP00000350791
resolver
ensp
ENSP00000354066
resolver
ensp
ENSP00000355395
resolver
ensp
ENSP00000366309
resolver
ensp
ENSP00000366314
resolver
ensp
ENSP00000366315
resolver
ensp
ENSP00000379576
resolver
ensp
ENSP00000379581
resolver
ensp
ENSP00000379587
resolver
ensp
ENSP00000386127
resolver
ensp
ENSP00000503830
resolver
ensp
ENSP00000504011
resolver
ensp
ENSP00000515951
resolver
ensp
ENSP00000516762
resolver
enst
ENST00000358082
resolver
enst
ENST00000360823
resolver
enst
ENST00000377105
resolver
enst
ENST00000396280
resolver
enst
ENST00000396292
resolver
enst
ENST00000408909
resolver
enst
ENST00000677594
resolver
genesymbol
MLSN2
resolver
genesymbol
TRPM3
resolver
genesymbol_syn
KIAA1616
resolver
genesymbol_syn
LTRPC3
resolver
hgnc
HGNC:17992
resolver
uniprot
A0A7I2V4C9
resolver
uniprot
A2A3F4
resolver
uniprot
A2A3F6
resolver
uniprot
A9Z1Y7
resolver
uniprot
E9PBI7
resolver
uniprot
G5E9G1
resolver
uniprot
H7BYP1
resolver
uniprot
Q5VW02
resolver
uniprot
Q5VW03
resolver
uniprot
Q5VW04
resolver
uniprot
Q5W5T7
resolver
uniprot
Q6NW43
resolver
uniprot
Q86SH0
resolver
uniprot
Q86SH6
resolver
uniprot
Q86UL0
resolver
uniprot
Q86WK1
resolver
uniprot
Q86WK2
resolver
uniprot
Q86WK3
resolver
uniprot
Q86WK4
resolver
uniprot
Q86YZ9
resolver
uniprot
Q86Z00
resolver
uniprot
Q86Z01
resolver
uniprot
Q9H0X2
resolver
uniprot
Q9H200
resolver
uniprot_entry
A0A7I2V4C9_HUMAN
resolver
uniprot_entry
A2A3F4_HUMAN
resolver
uniprot_entry
E9PBI7_HUMAN
resolver
uniprot_entry
G5E9G1_HUMAN
resolver
uniprot_entry
H7BYP1_HUMAN
resolver
uniprot_entry
Q6NW43_HUMAN
resolver
uniprot_entry
Q9H200_HUMAN
resolver
uniprot_entry
TRPM3_HUMAN
resolver
uniprot_sec
A2A3F6
resolver
uniprot_sec
A9Z1Y7
resolver
uniprot_sec
Q5VW02
resolver
uniprot_sec
Q5VW03
resolver
uniprot_sec
Q5VW04
resolver
uniprot_sec
Q5W5T7
resolver
uniprot_sec
Q86SH0
resolver
uniprot_sec
Q86SH6
resolver
uniprot_sec
Q86UL0
resolver
uniprot_sec
Q86WK1
resolver
uniprot_sec
Q86WK2
resolver
uniprot_sec
Q86WK3
resolver
uniprot_sec
Q86WK4
resolver
uniprot_sec
Q86YZ9
resolver
uniprot_sec
Q86Z00
resolver
uniprot_sec
Q86Z01
resolver
uniprot_sec
Q9H0X2
resolver
activity_regulation
ACTIVITY REGULATION: Activated by the neurosteroid pregnelonone sulfate (PregS); PregS activates the channel by shifting its current-voltage activation curve toward more negative membrane potentials and also potentiates temperature-induced activation (PubMed:24251620, PubMed:32343227). Activated by sphingosine (PubMed:12672799). Activated by heat (PubMed:12672799, PubMed:32343227). Intracellular Ca(2+) inhibits TRPM3 probably via interaction with Ca(2+)/calmodulin (By similarity). Intracellular Mg(2+) inhibits TRPM3 activity (By similarity). Both intracellular and extracellular protons block TRPM3 through probable binding sites in the pore region (PubMed:33603674). Positively regulated by phosphoinositide phosphoinositol 4,5-biphosphate (PI(4,5)P2) (PubMed:26123195). Strongly inhibited by activation of G(i)-coupled receptors via direct binding with G-betagamma-subunits of heterotrimeric G proteins (PubMed:28829742). {ECO:0000250|UniProtKB:J9SQF3, ECO:0000269|PubMed:12672799, ECO:0000269|PubMed:24251620, ECO:0000269|PubMed:26123195, ECO:0000269|PubMed:28829742, ECO:0000269|PubMed:32343227, ECO:0000269|PubMed:33603674}.
uniprot
proteins
amino_acid_sequence
MPEPWGTVYFLGIAQVFSFLFSWWNLEGVMNQADAPRPLNWTIRKLCHAAFLPSVRLLKAQKSWIERAFYKRECVHIIPSTKDPHRCCCGRLIGQHVGLTPSISVLQNEKNESRLSRNDIQSEKWSISKHTQLSPTDAFGTIEFQGGGHSNKAMYVRVSFDTKPDLLLHLMTKEWQLELPKLLISVHGGLQNFELQPKLKQVFGKGLIKAAMTTGAWIFTGGVNTGVIRHVGDALKDHASKSRGKICTIGIAPWGIVENQEDLIGRDVVRPYQTMSNPMSKLTVLNSMHSHFILADNGTTGKYGAEVKLRRQLEKHISLQKINTRCLPFFSLDSRLFYSFWGSCQLDSVGIGQGVPVVALIVEGGPNVISIVLEYLRDTPPVPVVVCDGSGRASDILAFGHKYSEEGGLINESLRDQLLVTIQKTFTYTRTQAQHLFIILMECMKKKELITVFRMGSEGHQDIDLAILTALLKGANASAPDQLSLALAWNRVDIARSQIFIYGQQWPVGSLEQAMLDALVLDRVDFVKLLIENGVSMHRFLTISRLEELYNTRHGPSNTLYHLVRDVKKGNLPPDYRISLIDIGLVIEYLMGGAYRCNYTRKRFRTLYHNLFGPKRPKALKLLGMEDDIPLRRGRKTTKKREEEVDIDLDDPEINHFPFPFHELMVWAVLMKRQKMALFFWQHGEEAMAKALVACKLCKAMAHEASENDMVDDISQELNHNSRDFGQLAVELLDQSYKQDEQLAMKLLTYELKNWSNATCLQLAVAAKHRDFIAHTCSQMLLTDMWMGRLRMRKNSGLKVILGILLPPSILSLEFKNKDDMPYMSQAQEIHLQEKEAEEPEKPTKEKEEEDMELTAMLGRNNGESSRKKDEEEVQSKHRLIPLGRKIYEFYNAPIVKFWFYTLAYIGYLMLFNYIVLVKMERWPSTQEWIVISYIFTLGIEKMREILMSEPGKLLQKVKVWLQEYWNVTDLIAILLFSVGMILRLQDQPFRSDGRVIYCVNIIYWYIRLLDIFGVNKYLGPYVMMIGKMMIDMMYFVIIMLVVLMSFGVARQAILFPNEEPSWKLAKNIFYMPYWMIYGEVFADQIDPPCGQNETREDGKIIQLPPCKTGAWIVPAIMACYLLVANILLVNLLIAVFNNTFFEVKSISNQVWKFQRYQLIMTFHERPVLPPPLIIFSHMTMIFQHLCCRWRKHESDPDERDYGLKLFITDDELKKVHDFEEQCIEEYFREKDDRFNSSNDERIRVTSERVENMSMRLEEVNEREHSMKASLQTVDIRLAQLEDLIGRMATALERLTGLERAESNKIRSRTSSDCTDAAYIVRQSSFNSQEGNTFKLQESIDPAGEETMSPTSPTLMPRMRSHSFYSVNMKDKGGIEKLESIFKERSLSLHRATSSHSVAKEPKAPAAPANTLAIVPDSRRPSSCIDIYVSAMDELHCDIDPLDNSVNILGLGEPSFSTPVPSTAPSSSAYATLAPTDRPPSRSIDFEDITSMDTRSFSSDYTHLPECQNPWDSEPPMYHTIERSKSSRYLATTPFLLEEAPIVKSHSFMFSPSRSYYANFGVPVKTAEYTSITDCIDTRCVNAPQAIADRAAFPGGLGDKVEDLTCCHPEREAELSHPSSDSEENEAKGRRATIAISSQEGDNSERTLSNNITVPKIERANSYSAEEPSAPYAHTRKSFSISDKLDRQRNTASLRNPFQRSKSSKPEGRGDSLSMRRLSRTSAFQSFESKHN
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS) [MIM:620224]: An autosomal dominant disorder characterized by global developmental delay, moderate to severely impaired intellectual development, poor or absent speech, congenital hypotonia, dysmorphic facial features, exotropia, and musculoskeletal issues such as hip dysplasia, hip dislocation and scoliosis. About half of patients develop various types of seizures. {ECO:0000269|PubMed:31278393, ECO:0000269|PubMed:32343227, ECO:0000269|PubMed:32427099, ECO:0000269|PubMed:32439617, ECO:0000269|PubMed:34074259, ECO:0000269|PubMed:34438093, ECO:0000269|PubMed:35146895}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cataract 50 with or without glaucoma (CTRCT50) [MIM:620253]: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT50 is an autosomal dominant form characterized by early onset. Affected individuals may also exhibit high-tension glaucoma and variable anterior segment defects. {ECO:0000269|PubMed:25090642}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 endogenous neurosteroid pregnenolone sulfate and sphingosine-1 and suppressed by intracellular Mg(2+) (PubMed:12672799, PubMed:12672827, PubMed:32343227). Implicated in a variety of cellular processes, including insulin/peptide secretion, vascular constriction and dilation, noxious heat sensing, inflammatory and spontaneous pain sensitivity. In neurons of the dorsal root ganglia, functions as thermosensitive channel for the detection of noxious heat and spontaneous pain. Suggested to function as an ionotropic steroid receptor in beta-cell, indeed pregnenolone sulfate leads to Ca(2+) influx and enhanced insulin secretion. Mediates Zn(2+) uptake into the lumen of pancreatic beta cell secretory granules, thereby regulating insulin secretion (By similarity). Forms heteromultimeric ion channels with TRPM1 which are permeable for Ca(2+) and Zn(2+) ions (PubMed:21278253). Exists as multiple splice variants which differ significantly in their biophysical properties (By similarity). {ECO:0000250|UniProtKB:J9SQF3, ECO:0000269|PubMed:12672799, ECO:0000269|PubMed:12672827, ECO:0000269|PubMed:21278253, ECO:0000269|PubMed:32343227}.
uniprot
proteins
mass_dalton
197571
uniprot
proteins
mutagenesis
MUTAGEN 1084; /note="D->Q: Enhances pH sensitivity."; /evidence="ECO:0000269|PubMed:33603674"; MUTAGEN 1087; /note="D->Q: Enhances pH sensitivity."; /evidence="ECO:0000269|PubMed:33603674"; MUTAGEN 1098; /note="D->Q: Less sensitivity toward protons."; /evidence="ECO:0000269|PubMed:33603674
uniprot
proteins
protein_family
LTrpC subfamily
uniprot
proteins
protein_family
TRPM3 sub-subfamily
uniprot
proteins
protein_family
Transient receptor (TC 1.A.4) family
uniprot
proteins
pubmed
10997877
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12672799
uniprot
proteins
pubmed
12672827
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21278253
uniprot
proteins
pubmed
24251620
uniprot
proteins
pubmed
25090642
uniprot
proteins
pubmed
26123195
uniprot
proteins
pubmed
28829742
uniprot
proteins
pubmed
31278393
uniprot
proteins
pubmed
32343227
uniprot
proteins
pubmed
32427099
uniprot
proteins
pubmed
32439617
uniprot
proteins
pubmed
33603674
uniprot
proteins
pubmed
34074259
uniprot
proteins
pubmed
34438093
uniprot
proteins
pubmed
35146895
uniprot
proteins
sequence_length
1732
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12672827, ECO:0000305|PubMed:21278253}; Multi-pass membrane protein {ECO:0000250|UniProtKB:J9SQF3}.
uniprot
proteins
transmembrane_region
TRANSMEM 895..918; /note="Helical; Name=1"; /evidence="ECO:0000250|UniProtKB:J9SQF3"; TRANSMEM 926..948; /note="Helical; Name=2"; /evidence="ECO:0000250|UniProtKB:J9SQF3"; TRANSMEM 965..985; /note="Helical; Name=3"; /evidence="ECO:0000250|UniProtKB:J9SQF3"; TRANSMEM 990..1013; /note="Helical; Name=4"; /evidence="ECO:0000250|UniProtKB:J9SQF3"; TRANSMEM 1029..1056; /note="Helical; Name=5"; /evidence="ECO:0000250|UniProtKB:J9SQF3"; TRANSMEM 1112..1137; /note="Helical; Name=6"; /evidence="ECO:0000250|UniProtKB:J9SQF3
uniprot
proteins