ENSG00000119121


Homo sapiens

Features
Gene ID: ENSG00000119121
  
Biological name :TRPM6
  
Synonyms : Q9BX84 / transient receptor potential cation channel subfamily M member 6 / TRPM6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: q21.13
Gene start: 74722495
Gene end: 74888094
  
Corresponding Affymetrix probe sets: 221102_s_at (Human Genome U133 Plus 2.0 Array)   224412_s_at (Human Genome U133 Plus 2.0 Array)   234864_s_at (Human Genome U133 Plus 2.0 Array)   240389_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000351942
Ensembl peptide - ENSP00000354006
Ensembl peptide - ENSP00000354962
Ensembl peptide - ENSP00000396672
NCBI entrez gene - 140803     See in Manteia.
OMIM - 607009
RefSeq - XM_017014289
RefSeq - NM_001177310
RefSeq - NM_001177311
RefSeq - NM_017662
RefSeq - XM_011518251
RefSeq - XM_011518252
RefSeq - XM_011518255
RefSeq - XM_017014287
RefSeq - XM_017014288
RefSeq - XM_011518244
RefSeq - XM_011518245
RefSeq - XM_011518246
RefSeq - XM_011518247
RefSeq - XM_011518248
RefSeq - XM_011518249
RefSeq - XM_011518250
RefSeq Peptide - NP_001170782
RefSeq Peptide - NP_060132
RefSeq Peptide - NP_001170781
swissprot - Q96LV9
swissprot - Q9BX84
Ensembl - ENSG00000119121
  
Related genetic diseases (OMIM): 602014 - Hypomagnesemia 1, intestinal, 602014
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
 trpm6ENSDARG00000103454Danio rerio
 TRPM6ENSGALG00000015154Gallus gallus
 Trpm6ENSMUSG00000024727Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TRPM7 / Q96QT4 / transient receptor potential cation channel subfamily M member 7ENSG0000009243951
TRPM3 / Q9HCF6 / transient receptor potential cation channel subfamily M member 3ENSG0000008306736
TRPM1 / Q7Z4N2 / transient receptor potential cation channel subfamily M member 1ENSG0000013416035
TRPM2 / O94759 / transient receptor potential cation channel subfamily M member 2ENSG0000014218520
TRPM4 / Q8TD43 / transient receptor potential cation channel subfamily M member 4ENSG0000013052916
TRPM5 / Q9NZQ8 / transient receptor potential cation channel subfamily M member 5ENSG0000007098516
TRPM8 / Q7Z2W7 / transient receptor potential cation channel subfamily M member 8ENSG0000014448114


Protein motifs (from Interpro)
Interpro ID Name
 IPR004166  MHCK/EF2 kinase
 IPR005821  Ion transport domain
 IPR011009  Protein kinase-like domain superfamily
 IPR029597  Transient receptor potential cation channel subfamily M member 6
 IPR032415  TRPM, tetramerisation domain
 IPR037162  TRPM, tetramerisation domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006812 cation transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0009636 response to toxic substance IDA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0030001 metal ion transport IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0051262 protein tetramerization IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070588 calcium ion transmembrane transport TAS
 biological_processGO:0098655 cation transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0031526 brush border membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005261 cation channel activity IEA
 molecular_functionGO:0005262 calcium channel activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
TRP channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001281 Tetany 
Show

 HP:0002901 Hypocalcemia "A level of blood calcium that is lower than normal." [HPO:curators]
Show

 HP:0002917 Hypomagnesemia 
Show

 HP:0003593 Early onset 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr