ENSG00000167895


Homo sapiens

Features
Gene ID: ENSG00000167895
  
Biological name :TMC8
  
Synonyms : Q8IU68 / TMC8 / transmembrane channel like 8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q25.3
Gene start: 78130770
Gene end: 78142968
  
Corresponding Affymetrix probe sets: 227353_at (Human Genome U133 Plus 2.0 Array)   236554_x_at (Human Genome U133 Plus 2.0 Array)   242644_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000467482
Ensembl peptide - ENSP00000325561
Ensembl peptide - ENSP00000465049
Ensembl peptide - ENSP00000467460
NCBI entrez gene - 147138     See in Manteia.
OMIM - 605829
RefSeq - XM_017024243
RefSeq - XM_017024239
RefSeq - XM_017024240
RefSeq - XM_017024241
RefSeq - XM_017024242
RefSeq - NM_152468
RefSeq - XM_011524402
RefSeq - XM_011524403
RefSeq - XM_011524404
RefSeq - XM_011524406
RefSeq - XM_017024238
RefSeq Peptide - NP_689681
swissprot - K7EJ72
swissprot - A0A024R8N8
swissprot - Q8IU68
Ensembl - ENSG00000167895
  
Related genetic diseases (OMIM): 226400 - Epidermodysplasia verruciformis, 226400
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
 tmc8ENSDARG00000101050Danio rerio
 Tmc8ENSMUSG00000050106Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TMC4 / transmembrane channel like 4ENSG0000016760831
TMC7 / Q7Z402 / transmembrane channel like 7ENSG0000017053730
TMC3 / Q7Z5M5 / transmembrane channel like 3ENSG0000018886923
TMC6 / Q7Z403 / transmembrane channel like 6ENSG0000014152422
TMC2 / Q8TDI7 / transmembrane channel like 2ENSG0000014948821
TMC5 / Q6UXY8 / transmembrane channel like 5ENSG0000010353420
TMC1 / Q8TDI8 / transmembrane channel like 1ENSG0000016509120


Protein motifs (from Interpro)
Interpro ID Name
 IPR012496  TMC domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001558 regulation of cell growth IDA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0032091 negative regulation of protein binding IDA
 biological_processGO:0032460 negative regulation of protein oligomerization IDA
 biological_processGO:0055069 zinc ion homeostasis IDA
 biological_processGO:1902041 regulation of extrinsic apoptotic signaling pathway via death domain receptors IDA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031965 nuclear membrane IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001051 Seborrheic dermatitis "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [HPO:curators]
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 HP:0001053 Hypopigmented skin patches 
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 HP:0001581 Recurrent skin infections "Infections of the skin that happen multiple times." [HPO:curators]
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 HP:0001939 Metabolism abnormality 
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 HP:0002671 Basal cell carcinoma 
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 HP:0002860 Squamous cell carcinoma 
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 HP:0007565 Multiple cafe-au-lait spots 
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 HP:0100585 Teleangiectasia of the skin 
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 HP:0200034 skin papules "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER]
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 HP:0200035 skin plaques "A broad papule, or confluence of papules equal to or greater than 10 mm. Has also been defined as an elevated, plateau-like lesion that is greater in its diameter than in its depth." [HPO:SKOEHLER]
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 HP:0200039 skin pustule "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:SKOEHLER]
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 HP:0200043 verrucae "Benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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