ENSG00000095209


Homo sapiens

Features
Gene ID: ENSG00000095209
  
Biological name :TMEM38B
  
Synonyms : Q9NVV0 / TMEM38B / transmembrane protein 38B
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q31.2
Gene start: 105694544
Gene end: 105776612
  
Corresponding Affymetrix probe sets: 218772_x_at (Human Genome U133 Plus 2.0 Array)   222735_at (Human Genome U133 Plus 2.0 Array)   222736_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000363820
Ensembl peptide - ENSP00000403026
Ensembl peptide - ENSP00000410800
Ensembl peptide - ENSP00000416680
Ensembl peptide - ENSP00000363824
NCBI entrez gene - 55151     See in Manteia.
OMIM - 611236
RefSeq - XM_011518833
RefSeq - XM_005252075
RefSeq - XM_005252076
RefSeq - XM_005252077
RefSeq - XM_011518829
RefSeq - XM_011518831
RefSeq - XM_011518832
RefSeq - NM_018112
RefSeq Peptide - NP_060582
swissprot - H7C3B3
swissprot - H7C4C1
swissprot - A0A0A0MRS4
swissprot - Q9NVV0
swissprot - X6RGH1
Ensembl - ENSG00000095209
  
Related genetic diseases (OMIM): 615066 - Osteogenesis imperfecta, type XIV, 615066
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
 TMEM38BENSDARG00000100549Danio rerio
 TMEM38BENSGALG00000027472Gallus gallus
 Q9DAV9ENSMUSG00000028420Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9H6F2 / TMEM38A / transmembrane protein 38AENSG0000007295441


Protein motifs (from Interpro)
Interpro ID Name
 IPR007866  TRIC channel


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0015672 monovalent inorganic cation transport IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0071805 potassium ion transmembrane transport IEA
 biological_processGO:0098655 cation transmembrane transport IEA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031965 nuclear membrane NAS
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane NAS
 molecular_functionGO:0005261 cation channel activity IEA
 molecular_functionGO:0005267 potassium channel activity TAS
 molecular_functionGO:0015269 calcium-activated potassium channel activity IBA


Pathways (from Reactome)
Pathway description
No match


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]
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 HP:0000938 Osteopenia "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators]
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 HP:0002757 Recurrent fractures "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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