ENSG00000162341


Homo sapiens

Features
Gene ID: ENSG00000162341
  
Biological name :TPCN2
  
Synonyms : Q8NHX9 / TPCN2 / two pore segment channel 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q13.3
Gene start: 69048897
Gene end: 69162440
  
Corresponding Affymetrix probe sets: 229250_at (Human Genome U133 Plus 2.0 Array)   229251_s_at (Human Genome U133 Plus 2.0 Array)   231978_at (Human Genome U133 Plus 2.0 Array)   235194_at (Human Genome U133 Plus 2.0 Array)   242554_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000445551
Ensembl peptide - ENSP00000294309
Ensembl peptide - ENSP00000489759
Ensembl peptide - ENSP00000490615
Ensembl peptide - ENSP00000490341
Ensembl peptide - ENSP00000490171
NCBI entrez gene - 219931     See in Manteia.
OMIM - 612163
RefSeq - XM_017017336
RefSeq - XM_017017330
RefSeq - XM_017017331
RefSeq - XM_017017332
RefSeq - XM_017017333
RefSeq - XM_017017334
RefSeq - XM_017017335
RefSeq - NM_139075
RefSeq - XM_005273824
RefSeq - XM_005273826
RefSeq - XM_005273830
RefSeq - XM_005273831
RefSeq - XM_005273832
RefSeq - XM_011544802
RefSeq - XM_011544805
RefSeq - XM_011544806
RefSeq - XM_011544807
RefSeq - XM_011544808
RefSeq - XM_017017328
RefSeq - XM_017017329
RefSeq Peptide - NP_620714
swissprot - E7ETX0
swissprot - A0A1B0GVQ7
swissprot - A0A1B0GUM5
swissprot - A0A1B0GTM1
swissprot - Q8NHX9
Ensembl - ENSG00000162341
  
Related genetic diseases (OMIM): 612267 - [Skin/hair/eye pigmentation 10, blond/brown hair], 612267
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
 tpcn2ENSDARG00000100420Danio rerio
 TPCN2ENSGALG00000007550Gallus gallus
 Tpcn2ENSMUSG00000048677Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TPCN1 / Q9ULQ1 / two pore segment channel 1ENSG0000018681522


Protein motifs (from Interpro)
Interpro ID Name
 IPR005821  Ion transport domain
 IPR028798  Two pore calcium channel protein 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0006874 cellular calcium ion homeostasis IDA
 biological_processGO:0006939 smooth muscle contraction IEA
 biological_processGO:0007040 lysosome organization IGI
 biological_processGO:0010506 regulation of autophagy IGI
 biological_processGO:0019722 calcium-mediated signaling IGI
 biological_processGO:0033280 response to vitamin D IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0051209 release of sequestered calcium ion into cytosol IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0086010 membrane depolarization during action potential IBA
 cellular_componentGO:0005764 lysosome IDA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0010008 endosome membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IEA
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0072345 NAADP-sensitive calcium-release channel activity IEA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


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






 

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