ENSG00000141524


Homo sapiens

Features
Gene ID: ENSG00000141524
  
Biological name :TMC6
  
Synonyms : Q7Z403 / TMC6 / transmembrane channel like 6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q25.3
Gene start: 78110458
Gene end: 78132407
  
Corresponding Affymetrix probe sets: 204328_at (Human Genome U133 Plus 2.0 Array)   214958_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000467016
Ensembl peptide - ENSP00000466885
Ensembl peptide - ENSP00000468255
Ensembl peptide - ENSP00000306405
Ensembl peptide - ENSP00000313408
Ensembl peptide - ENSP00000376260
Ensembl peptide - ENSP00000464853
Ensembl peptide - ENSP00000465261
Ensembl peptide - ENSP00000465359
Ensembl peptide - ENSP00000466159
NCBI entrez gene - 11322     See in Manteia.
OMIM - 605828
RefSeq - XM_017024109
RefSeq - NM_001321185
RefSeq - NM_007267
RefSeq - XM_005256995
RefSeq - XM_011524255
RefSeq - XM_011524256
RefSeq - XM_011524257
RefSeq - XM_011524258
RefSeq - XM_017024107
RefSeq - XM_017024108
RefSeq - NM_001127198
RefSeq Peptide - NP_001308114
RefSeq Peptide - NP_009198
RefSeq Peptide - NP_001120670
swissprot - K7ERH0
swissprot - K7ELP1
swissprot - Q7Z403
swissprot - A0A024R8V2
swissprot - K7ENC4
swissprot - K7ENM6
Ensembl - ENSG00000141524
  
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
 tmc6aENSDARG00000069787Danio rerio
 TMC6ENSGALG00000038875Gallus gallus
 Tmc6ENSMUSG00000025572Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TMC5 / Q6UXY8 / transmembrane channel like 5ENSG0000010353432
TMC7 / Q7Z402 / transmembrane channel like 7ENSG0000017053721
TMC8 / Q8IU68 / transmembrane channel like 8ENSG0000016789520
TMC4 / transmembrane channel like 4ENSG0000016760820
TMC2 / Q8TDI7 / transmembrane channel like 2ENSG0000014948819
TMC3 / Q7Z5M5 / transmembrane channel like 3ENSG0000018886919
TMC1 / Q8TDI8 / transmembrane channel like 1ENSG0000016509118


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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0008150 biological_process ND
 biological_processGO:0043312 neutrophil degranulation TAS
 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:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031965 nuclear membrane IDA
 cellular_componentGO:0035579 specific granule membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0070821 tertiary granule membrane TAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Neutrophil degranulation


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]
Show

 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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