ENSG00000130529


Homo sapiens

Features
Gene ID: ENSG00000130529
  
Biological name :TRPM4
  
Synonyms : Q8TD43 / transient receptor potential cation channel subfamily M member 4 / TRPM4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.33
Gene start: 49157741
Gene end: 49211836
  
Corresponding Affymetrix probe sets: 219360_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000473231
Ensembl peptide - ENSP00000471236
Ensembl peptide - ENSP00000483753
Ensembl peptide - ENSP00000252826
Ensembl peptide - ENSP00000407492
Ensembl peptide - ENSP00000468989
Ensembl peptide - ENSP00000469893
Ensembl peptide - ENSP00000470229
NCBI entrez gene - 54795     See in Manteia.
OMIM - 606936
RefSeq - XM_005259017
RefSeq - NM_001195227
RefSeq - NM_001321281
RefSeq - NM_001321282
RefSeq - NM_001321283
RefSeq - NM_001321285
RefSeq - NM_017636
RefSeq Peptide - NP_001308211
RefSeq Peptide - NP_001308214
RefSeq Peptide - NP_060106
RefSeq Peptide - NP_001182156
RefSeq Peptide - NP_001308210
RefSeq Peptide - NP_001308212
swissprot - M0R3H6
swissprot - M0QX92
swissprot - M0QYK7
swissprot - M0QZ19
swissprot - Q8TD43
swissprot - A0A087X0Z3
swissprot - M0R0H1
Ensembl - ENSG00000130529
  
Related genetic diseases (OMIM): 604559 - Progressive familial heart block, type IB, 604559
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 si:ch211-173d10.1ENSDARG00000109442Danio rerio
 si:ch211-173d10.1ENSDARG00000063347Danio rerio
 trpm4aENSDARG00000059993Danio rerio
 trpm4b.2ENSDARG00000063435Danio rerio
 Trpm4ENSMUSG00000038260Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TRPM5 / Q9NZQ8 / transient receptor potential cation channel subfamily M member 5ENSG0000007098542
TRPM2 / O94759 / transient receptor potential cation channel subfamily M member 2ENSG0000014218536
TRPM8 / Q7Z2W7 / transient receptor potential cation channel subfamily M member 8ENSG0000014448130
TRPM3 / Q9HCF6 / transient receptor potential cation channel subfamily M member 3ENSG0000008306729
TRPM1 / Q7Z4N2 / transient receptor potential cation channel subfamily M member 1ENSG0000013416029
TRPM6 / Q9BX84 / transient receptor potential cation channel subfamily M member 6ENSG0000011912127
TRPM7 / Q96QT4 / transient receptor potential cation channel subfamily M member 7ENSG0000009243927


Protein motifs (from Interpro)
Interpro ID Name
 IPR005821  Ion transport domain
 IPR029581  Transient receptor potential cation channel subfamily M member 4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002250 adaptive immune response IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002407 dendritic cell chemotaxis ISS
 biological_processGO:0002724 regulation of T cell cytokine production IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006812 cation transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration ISS
 biological_processGO:0008284 positive regulation of cell proliferation IDA
 biological_processGO:0010460 positive regulation of heart rate ISS
 biological_processGO:0016925 protein sumoylation IDA
 biological_processGO:0019722 calcium-mediated signaling IDA
 biological_processGO:0030502 negative regulation of bone mineralization ISS
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus ISS
 biological_processGO:0042310 vasoconstriction IEA
 biological_processGO:0042391 regulation of membrane potential IEA
 biological_processGO:0045600 positive regulation of fat cell differentiation ISS
 biological_processGO:0045668 negative regulation of osteoblast differentiation ISS
 biological_processGO:0045907 positive regulation of vasoconstriction ISS
 biological_processGO:0051289 protein homotetramerization IDA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0061337 cardiac conduction IEA
 biological_processGO:0070588 calcium ion transmembrane transport TAS
 biological_processGO:0071318 cellular response to ATP IEA
 biological_processGO:0086045 membrane depolarization during AV node cell action potential IMP
 biological_processGO:0086047 membrane depolarization during Purkinje myocyte cell action potential IMP
 biological_processGO:0086048 membrane depolarization during bundle of His cell action potential IMP
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IMP
 biological_processGO:0090263 positive regulation of canonical Wnt signaling pathway IDA
 biological_processGO:0098662 inorganic cation transmembrane transport IDA
 biological_processGO:0098719 sodium ion import across plasma membrane IDA
 biological_processGO:0098911 regulation of ventricular cardiac muscle cell action potential IMP
 biological_processGO:1903949 positive regulation of atrial cardiac muscle cell action potential ISS
 biological_processGO:1904179 positive regulation of adipose tissue development ISS
 biological_processGO:1904199 positive regulation of regulation of vascular smooth muscle cell membrane depolarization ISS
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0034706 sodium channel complex IDA
 cellular_componentGO:0043025 neuronal cell body ISS
 cellular_componentGO:0044214 spanning component of plasma membrane IDA
 cellular_componentGO:0089717 spanning component of membrane IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005227 calcium activated cation channel activity IEA
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0005272 sodium channel activity TAS
 molecular_functionGO:0005509 calcium ion binding IDA
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0005524 ATP binding IEA


Pathways (from Reactome)
Pathway description
TRP channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001279 Syncope "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators]
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 HP:0001657 Prolonged QT interval on EKG 
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 HP:0001662 Bradycardia 
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 HP:0005165 Shortened P-R interval on EKG 
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 HP:0011675 Arrhythmia "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792]
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 HP:0011711 Left anterior fascicular block "Conduction block in the anterior division of the left bundle branch of the bundle of His." [DDD:dbrown]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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