Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Transient receptor potential cation channel subfamily M member 4

Gene

TRPM4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Calcium-activated non selective (CAN) cation channel that mediates membrane depolarization (PubMed:12015988, PubMed:29211723). While it is activated by increase in intracellular Ca2+, it is impermeable to it (PubMed:12015988). Mediates transport of monovalent cations (Na+ > K+ > Cs+ > Li+), leading to depolarize the membrane. It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, endocrine pancreas cells, kidney epithelial cells, cochlea hair cells etc. Participates in T-cell activation by modulating Ca2+ oscillations after T lymphocyte activation, which is required for NFAT-dependent IL2 production. Involved in myogenic constriction of cerebral arteries. Controls insulin secretion in pancreatic beta-cells. May also be involved in pacemaking or could cause irregular electrical activity under conditions of Ca2+ overload. Affects T-helper 1 (Th1) and T-helper 2 (Th2) cell motility and cytokine production through differential regulation of calcium signaling and NFATC1 localization. Enhances cell proliferation through up-regulation of the beta-catenin signaling pathway.17 Publications

Enzyme regulationi

Gating is voltage-dependent and repressed by decavanadate (PubMed:15331675, PubMed:29211723). Calmodulin-binding confers the Ca2+ sensitivity (PubMed:15590641). ATP is able to restore Ca2+ sensitivity after desensitization (PubMed:15590641). ATP inhibits channel activity (PubMed:15331675, PubMed:14758478, PubMed:29211723). Phosphatidylinositol 4,5-bisphosphate (PIP2)-binding strongly enhances activity, by increasing the channel's Ca2+ sensitivity and shifting its voltage dependence of activation towards negative potentials (PubMed:16186107, PubMed:16424899). Activity is also enhanced by 3,5-bis(trifluoromethyl)pyrazole derivative (BTP2) (PubMed:16407466).7 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei171ATP; shared with neighboring subunitBy similarity1
Binding sitei421ATPBy similarity1
Binding sitei448ATP; via carbonyl oxygenBy similarity1
Metal bindingi828CalciumCombined sources1 Publication1
Metal bindingi831CalciumCombined sources1 Publication1
Metal bindingi865CalciumCombined sources1 Publication1
Metal bindingi868CalciumCombined sources1 Publication1

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • calcium activated cation channel activity Source: UniProtKB
  • calcium channel activity Source: Ensembl
  • calcium ion binding Source: UniProtKB
  • calmodulin binding Source: UniProtKB-KW
  • sodium channel activity Source: Reactome

GO - Biological processi

Keywordsi

Molecular functionCalmodulin-binding, Ion channel
Biological processAdaptive immunity, Immunity, Ion transport, Transport
LigandATP-binding, Calcium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-3295583 TRP channels
SIGNORiQ8TD43

Protein family/group databases

TCDBi1.A.4.5.4 the transient receptor potential ca(2+) channel (trp-cc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Transient receptor potential cation channel subfamily M member 4
Short name:
hTRPM4
Alternative name(s):
Calcium-activated non-selective cation channel 1
Long transient receptor potential channel 4
Short name:
LTrpC-4
Short name:
LTrpC4
Melastatin-4
Gene namesi
Name:TRPM4
Synonyms:LTRPC4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000130529.15
HGNCiHGNC:17993 TRPM4
MIMi606936 gene
neXtProtiNX_Q8TD43

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 782Cytoplasmic2 PublicationsAdd BLAST782
Transmembranei783 – 803Helical2 PublicationsAdd BLAST21
Topological domaini804 – 814Extracellular2 PublicationsAdd BLAST11
Transmembranei815 – 835Helical2 PublicationsAdd BLAST21
Topological domaini836 – 863Cytoplasmic2 PublicationsAdd BLAST28
Transmembranei864 – 884Helical2 PublicationsAdd BLAST21
Topological domaini885 – 886Extracellular2 Publications2
Transmembranei887 – 910Helical2 PublicationsAdd BLAST24
Topological domaini911 – 930Cytoplasmic2 PublicationsAdd BLAST20
Transmembranei931 – 951Helical2 PublicationsAdd BLAST21
Topological domaini952 – 963Extracellular2 PublicationsAdd BLAST12
Intramembranei964 – 984Pore-forming2 PublicationsAdd BLAST21
Topological domaini985 – 1019Extracellular2 PublicationsAdd BLAST35
Transmembranei1020 – 1040Helical2 PublicationsAdd BLAST21
Topological domaini1041 – 1214Cytoplasmic2 PublicationsAdd BLAST174

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Progressive familial heart block 1B (PFHB1B)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.
See also OMIM:604559
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0640427E → K in PFHB1B; attenuated desumoylation of TRPM4 resulting in constitutive sumoylation of the channel leading to impaired endocytosis and elevated channel density at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs267607142EnsemblClinVar.1
Natural variantiVAR_066763131Q → H in PFHB1B; incomplete right bundle-branch block. 1 PublicationCorresponds to variant dbSNP:rs172146854Ensembl.1
Natural variantiVAR_066764164R → W in PFHB1B. 1 PublicationCorresponds to variant dbSNP:rs387907216EnsemblClinVar.1
Natural variantiVAR_066766293Q → R in PFHB1B; right bundle-branch block. 1 PublicationCorresponds to variant dbSNP:rs172147855Ensembl.1
Natural variantiVAR_066767432A → T in PFHB1B; atrioventricular block. 2 PublicationsCorresponds to variant dbSNP:rs201907325EnsemblClinVar.1
Natural variantiVAR_066770582G → S in PFHB1B; atrioventricular block. 1 PublicationCorresponds to variant dbSNP:rs172149856EnsemblClinVar.1
Natural variantiVAR_066771790Y → H in PFHB1B; atrioventricular block. 1 PublicationCorresponds to variant dbSNP:rs172150857Ensembl.1
Natural variantiVAR_066772844G → D in PFHB1B; right bundle-branch block. 2 PublicationsCorresponds to variant dbSNP:rs200038418EnsemblClinVar.1
Natural variantiVAR_066774914K → R in PFHB1B; atrioventricular block. 1 PublicationCorresponds to variant dbSNP:rs172151858EnsemblClinVar.1
Natural variantiVAR_066775970P → S in PFHB1B; incomplete right bundle-branch block. 1 PublicationCorresponds to variant dbSNP:rs172152859EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi275L → A or C: Abolishes ability to restore sensitivity to Ca(2+) after desensitization. 1 Publication1
Mutagenesisi278I → N: No effect. 1 Publication1
Mutagenesisi279D → N: No effect. 1 Publication1
Mutagenesisi324G → A: No effect. 1 Publication1
Mutagenesisi325G → A: Abolishes ability to restore sensitivity to Ca(2+) after desensitization. 1 Publication1
Mutagenesisi327R → A: No effect. 1 Publication1
Mutagenesisi977Q → E: Alters the monovalent cation permeability sequence and results in a pore with moderate Ca(2+) permeability. 1 Publication1
Mutagenesisi981 – 986EDMDVA → TIIDGP: Induces a functional channel that combines the gating hallmarks of TRPM4 (activation by Ca(2+)) with TRPV6-like sensitivity to block by extracellular Ca(2+) and Mg(2+) as well as Ca(2+) permeation. 1 Publication6
Mutagenesisi981E → A: Results in a channel with normal permeability properties but with a reduced sensitivity to block by intracellular spermine. 1 Publication1
Mutagenesisi982D → A: Results in a functional channel that exhibits extremely fast desensitization, possibly indicating destabilization of the pore. 1 Publication1
Mutagenesisi984D → A: Results in a non-functional channel with a dominant negative phenotype. 1 Publication1
Mutagenesisi1059K → Q: Does not affect PIP2-binding. 1 Publication1
Mutagenesisi1072R → Q: Does not affect PIP2-binding. 1 Publication1
Mutagenesisi1136 – 1141Missing : Results in a channel with very rapid desensitization and highly reduced sensitivity to PIP2. 1 Publication6
Mutagenesisi1145S → A: Decreases the sensitivity to Ca(2+). 1 Publication1
Mutagenesisi1152S → A: Decreases the sensitivity to Ca(2+). 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi54795
MalaCardsiTRPM4
MIMi604559 phenotype
OpenTargetsiENSG00000130529
Orphaneti130 Brugada syndrome
871 Familial progressive cardiac conduction defect
PharmGKBiPA38272

Chemistry databases

ChEMBLiCHEMBL1628469
GuidetoPHARMACOLOGYi496

Polymorphism and mutation databases

BioMutaiTRPM4
DMDMi74715868

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002595291 – 1214Transient receptor potential cation channel subfamily M member 4Add BLAST1214

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi992N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi993 ↔ 1011Combined sources1 Publication
Modified residuei1145Phosphoserine; by PKC1 Publication1
Modified residuei1152Phosphoserine; by PKC1 Publication1

Post-translational modificationi

Phosphorylation by PKC leads to increase the sensitivity to Ca2+.1 Publication
Sumoylated. Desumoylated by SENP1.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ8TD43
MaxQBiQ8TD43
PaxDbiQ8TD43
PeptideAtlasiQ8TD43
PRIDEiQ8TD43
ProteomicsDBi74233
74234 [Q8TD43-2]
74235 [Q8TD43-3]

PTM databases

iPTMnetiQ8TD43
PhosphoSitePlusiQ8TD43

Expressioni

Tissue specificityi

Widely expressed with a high expression in intestine and prostate. In brain, it is both expressed in whole cerebral arteries and isolated vascular smooth muscle cells. Prominently expressed in Purkinje fibers. Expressed at higher levels in T-helper 2 (Th2) cells as compared to T-helper 1 (Th1) cells.7 Publications

Gene expression databases

BgeeiENSG00000130529
CleanExiHS_TRPM4
ExpressionAtlasiQ8TD43 baseline and differential
GenevisibleiQ8TD43 HS

Organism-specific databases

HPAiHPA041169

Interactioni

Subunit structurei

Homotetramer.1 Publication2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120154, 12 interactors
IntActiQ8TD43, 1 interactor
MINTiQ8TD43
STRINGi9606.ENSP00000252826

Structurei

Secondary structure

11214
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi88 – 93Combined sources6
Helixi100 – 107Combined sources8
Turni108 – 110Combined sources3
Beta strandi118 – 122Combined sources5
Beta strandi126 – 128Combined sources3
Helixi132 – 139Combined sources8
Helixi142 – 149Combined sources8
Beta strandi152 – 155Combined sources4
Beta strandi158 – 161Combined sources4
Helixi162 – 176Combined sources15
Beta strandi177 – 179Combined sources3
Beta strandi185 – 187Combined sources3
Turni191 – 193Combined sources3
Turni202 – 205Combined sources4
Beta strandi230 – 235Combined sources6
Beta strandi238 – 240Combined sources3
Helixi245 – 259Combined sources15
Beta strandi260 – 263Combined sources4
Beta strandi268 – 270Combined sources3
Beta strandi273 – 277Combined sources5
Helixi282 – 293Combined sources12
Beta strandi298 – 301Combined sources4
Helixi308 – 315Combined sources8
Turni319 – 326Combined sources8
Helixi331 – 338Combined sources8
Helixi344 – 357Combined sources14
Beta strandi359 – 364Combined sources6
Beta strandi370 – 372Combined sources3
Helixi373 – 385Combined sources13
Turni395 – 397Combined sources3
Helixi398 – 402Combined sources5
Helixi406 – 414Combined sources9
Beta strandi415 – 417Combined sources3
Helixi422 – 434Combined sources13
Helixi438 – 446Combined sources9
Beta strandi451 – 454Combined sources4
Helixi457 – 465Combined sources9
Beta strandi469 – 473Combined sources5
Helixi474 – 480Combined sources7
Helixi504 – 509Combined sources6
Helixi560 – 568Combined sources9
Helixi572 – 578Combined sources7
Turni579 – 581Combined sources3
Helixi585 – 601Combined sources17
Helixi608 – 633Combined sources26
Helixi635 – 642Combined sources8
Turni648 – 651Combined sources4
Helixi654 – 660Combined sources7
Helixi664 – 667Combined sources4
Helixi670 – 680Combined sources11
Turni681 – 683Combined sources3
Helixi690 – 697Combined sources8
Helixi700 – 704Combined sources5
Beta strandi705 – 708Combined sources4
Helixi768 – 776Combined sources9
Helixi779 – 803Combined sources25
Beta strandi807 – 809Combined sources3
Helixi812 – 829Combined sources18
Turni830 – 834Combined sources5
Helixi852 – 859Combined sources8
Helixi863 – 883Combined sources21
Helixi888 – 909Combined sources22
Turni914 – 916Combined sources3
Helixi917 – 920Combined sources4
Turni921 – 926Combined sources6
Helixi927 – 951Combined sources25
Helixi959 – 965Combined sources7
Helixi968 – 972Combined sources5
Helixi973 – 975Combined sources3
Helixi980 – 983Combined sources4
Helixi985 – 987Combined sources3
Beta strandi995 – 998Combined sources4
Beta strandi1005 – 1008Combined sources4
Helixi1017 – 1030Combined sources14
Turni1031 – 1033Combined sources3
Helixi1034 – 1070Combined sources37
Turni1080 – 1086Combined sources7
Helixi1087 – 1093Combined sources7
Helixi1115 – 1141Combined sources27
Helixi1144 – 1166Combined sources23
Helixi1168 – 1174Combined sources7

3D structure databases

ProteinModelPortaliQ8TD43
SMRiQ8TD43
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1076 – 1176Calmodulin-bindingAdd BLAST101
Regioni1136 – 1141Mediates modulation by decavanadate and PIP2-binding1 Publication6

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1134 – 1187Sequence analysisAdd BLAST54

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi975 – 977Selectivity filter1 Publication3

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3614 Eukaryota
ENOG410XR5B LUCA
GeneTreeiENSGT00760000119127
HOGENOMiHOG000236350
HOVERGENiHBG108337
InParanoidiQ8TD43
KOiK04979
OMAiGQAPWSD
OrthoDBiEOG091G017C
PhylomeDBiQ8TD43
TreeFamiTF314204

Family and domain databases

InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR029581 TRPM4
PANTHERiPTHR13800:SF6 PTHR13800:SF6, 1 hit
PfamiView protein in Pfam
PF00520 Ion_trans, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TD43-1) [UniParc]FASTAAdd to basket
Also known as: TRPM4b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVVPEKEQSW IPKIFKKKTC TTFIVDSTDP GGTLCQCGRP RTAHPAVAME
60 70 80 90 100
DAFGAAVVTV WDSDAHTTEK PTDAYGELDF TGAGRKHSNF LRLSDRTDPA
110 120 130 140 150
AVYSLVTRTW GFRAPNLVVS VLGGSGGPVL QTWLQDLLRR GLVRAAQSTG
160 170 180 190 200
AWIVTGGLHT GIGRHVGVAV RDHQMASTGG TKVVAMGVAP WGVVRNRDTL
210 220 230 240 250
INPKGSFPAR YRWRGDPEDG VQFPLDYNYS AFFLVDDGTH GCLGGENRFR
260 270 280 290 300
LRLESYISQQ KTGVGGTGID IPVLLLLIDG DEKMLTRIEN ATQAQLPCLL
310 320 330 340 350
VAGSGGAADC LAETLEDTLA PGSGGARQGE ARDRIRRFFP KGDLEVLQAQ
360 370 380 390 400
VERIMTRKEL LTVYSSEDGS EEFETIVLKA LVKACGSSEA SAYLDELRLA
410 420 430 440 450
VAWNRVDIAQ SELFRGDIQW RSFHLEASLM DALLNDRPEF VRLLISHGLS
460 470 480 490 500
LGHFLTPMRL AQLYSAAPSN SLIRNLLDQA SHSAGTKAPA LKGGAAELRP
510 520 530 540 550
PDVGHVLRML LGKMCAPRYP SGGAWDPHPG QGFGESMYLL SDKATSPLSL
560 570 580 590 600
DAGLGQAPWS DLLLWALLLN RAQMAMYFWE MGSNAVSSAL GACLLLRVMA
610 620 630 640 650
RLEPDAEEAA RRKDLAFKFE GMGVDLFGEC YRSSEVRAAR LLLRRCPLWG
660 670 680 690 700
DATCLQLAMQ ADARAFFAQD GVQSLLTQKW WGDMASTTPI WALVLAFFCP
710 720 730 740 750
PLIYTRLITF RKSEEEPTRE ELEFDMDSVI NGEGPVGTAD PAEKTPLGVP
760 770 780 790 800
RQSGRPGCCG GRCGGRRCLR RWFHFWGAPV TIFMGNVVSY LLFLLLFSRV
810 820 830 840 850
LLVDFQPAPP GSLELLLYFW AFTLLCEELR QGLSGGGGSL ASGGPGPGHA
860 870 880 890 900
SLSQRLRLYL ADSWNQCDLV ALTCFLLGVG CRLTPGLYHL GRTVLCIDFM
910 920 930 940 950
VFTVRLLHIF TVNKQLGPKI VIVSKMMKDV FFFLFFLGVW LVAYGVATEG
960 970 980 990 1000
LLRPRDSDFP SILRRVFYRP YLQIFGQIPQ EDMDVALMEH SNCSSEPGFW
1010 1020 1030 1040 1050
AHPPGAQAGT CVSQYANWLV VLLLVIFLLV ANILLVNLLI AMFSYTFGKV
1060 1070 1080 1090 1100
QGNSDLYWKA QRYRLIREFH SRPALAPPFI VISHLRLLLR QLCRRPRSPQ
1110 1120 1130 1140 1150
PSSPALEHFR VYLSKEAERK LLTWESVHKE NFLLARARDK RESDSERLKR
1160 1170 1180 1190 1200
TSQKVDLALK QLGHIREYEQ RLKVLEREVQ QCSRVLGWVA EALSRSALLP
1210
PGGPPPPDLP GSKD
Length:1,214
Mass (Da):134,301
Last modified:June 1, 2002 - v1
Checksum:i76ADA452690ED8F5
GO
Isoform 2 (identifier: Q8TD43-2) [UniParc]FASTAAdd to basket
Also known as: TRPM4a

The sequence of this isoform differs from the canonical sequence as follows:
     1-174: Missing.

Show »
Length:1,040
Mass (Da):115,566
Checksum:i684A8C554B2B0F2E
GO
Isoform 3 (identifier: Q8TD43-3) [UniParc]FASTAAdd to basket
Also known as: TRPM4c

The sequence of this isoform differs from the canonical sequence as follows:
     738-882: Missing.

Show »
Length:1,069
Mass (Da):118,630
Checksum:i80DEBD935A55F200
GO

Sequence cautioni

The sequence BAA90907 differs from that shown. Reason: Erroneous termination at position 1191. Translated as Glu.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1149K → E in BAA90907 (PubMed:14702039).Curated1
Sequence conflicti1207P → L in BAA90907 (PubMed:14702039).Curated1
Sequence conflicti1210P → H in BAA90907 (PubMed:14702039).Curated1
Sequence conflicti1214D → E in BAA90907 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0640427E → K in PFHB1B; attenuated desumoylation of TRPM4 resulting in constitutive sumoylation of the channel leading to impaired endocytosis and elevated channel density at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs267607142EnsemblClinVar.1
Natural variantiVAR_066761101A → T1 PublicationCorresponds to variant dbSNP:rs113984787EnsemblClinVar.1
Natural variantiVAR_066762103Y → C1 PublicationCorresponds to variant dbSNP:rs144781529EnsemblClinVar.1
Natural variantiVAR_066763131Q → H in PFHB1B; incomplete right bundle-branch block. 1 PublicationCorresponds to variant dbSNP:rs172146854Ensembl.1
Natural variantiVAR_066764164R → W in PFHB1B. 1 PublicationCorresponds to variant dbSNP:rs387907216EnsemblClinVar.1
Natural variantiVAR_066765252R → H1 PublicationCorresponds to variant dbSNP:rs146564314EnsemblClinVar.1
Natural variantiVAR_066766293Q → R in PFHB1B; right bundle-branch block. 1 PublicationCorresponds to variant dbSNP:rs172147855Ensembl.1
Natural variantiVAR_066767432A → T in PFHB1B; atrioventricular block. 2 PublicationsCorresponds to variant dbSNP:rs201907325EnsemblClinVar.1
Natural variantiVAR_066768487 – 498Missing . Add BLAST12
Natural variantiVAR_066769561D → A1 PublicationCorresponds to variant dbSNP:rs56355369EnsemblClinVar.1
Natural variantiVAR_066770582G → S in PFHB1B; atrioventricular block. 1 PublicationCorresponds to variant dbSNP:rs172149856EnsemblClinVar.1
Natural variantiVAR_066771790Y → H in PFHB1B; atrioventricular block. 1 PublicationCorresponds to variant dbSNP:rs172150857Ensembl.1
Natural variantiVAR_066772844G → D in PFHB1B; right bundle-branch block. 2 PublicationsCorresponds to variant dbSNP:rs200038418EnsemblClinVar.1
Natural variantiVAR_066773854Q → R1 PublicationCorresponds to variant dbSNP:rs172155862EnsemblClinVar.1
Natural variantiVAR_066774914K → R in PFHB1B; atrioventricular block. 1 PublicationCorresponds to variant dbSNP:rs172151858EnsemblClinVar.1
Natural variantiVAR_066775970P → S in PFHB1B; incomplete right bundle-branch block. 1 PublicationCorresponds to variant dbSNP:rs172152859EnsemblClinVar.1
Natural variantiVAR_0667761204P → L1 PublicationCorresponds to variant dbSNP:rs150391806EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0214421 – 174Missing in isoform 2. 2 PublicationsAdd BLAST174
Alternative sequenceiVSP_021443738 – 882Missing in isoform 3. 1 PublicationAdd BLAST145

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY046396 mRNA Translation: AAL02142.1
AF497623 mRNA Translation: AAM18083.1
AY297044 mRNA Translation: AAP44473.1
AY297045 mRNA Translation: AAP44474.1
AY297046 mRNA Translation: AAP44475.1
AJ575813 mRNA Translation: CAE05941.1
AK000048 mRNA Translation: BAA90907.1 Sequence problems.
AK292862 mRNA Translation: BAF85551.1
BC132727 mRNA Translation: AAI32728.1
CCDSiCCDS33073.1 [Q8TD43-1]
CCDS56098.1 [Q8TD43-3]
RefSeqiNP_001182156.1, NM_001195227.1 [Q8TD43-3]
NP_001308212.1, NM_001321283.1 [Q8TD43-2]
NP_060106.2, NM_017636.3 [Q8TD43-1]
UniGeneiHs.467101

Genome annotation databases

EnsembliENST00000252826; ENSP00000252826; ENSG00000130529 [Q8TD43-1]
ENST00000427978; ENSP00000407492; ENSG00000130529 [Q8TD43-3]
GeneIDi54795
KEGGihsa:54795
UCSCiuc002pmw.4 human [Q8TD43-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTRPM4_HUMAN
AccessioniPrimary (citable) accession number: Q8TD43
Secondary accession number(s): A2RU25
, Q7Z5D9, Q96L84, Q9NXV1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: June 1, 2002
Last modified: July 18, 2018
This is version 130 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health