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    TMC6 transmembrane channel like 6 [ Homo sapiens (human) ]

    Gene ID: 11322, updated on 27-Nov-2024

    Summary

    Official Symbol
    TMC6provided by HGNC
    Official Full Name
    transmembrane channel like 6provided by HGNC
    Primary source
    HGNC:HGNC:18021
    See related
    Ensembl:ENSG00000141524 MIM:605828; AllianceGenome:HGNC:18021
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EV1; lnc; EVER1; EVIN1; LAK-4P; TNRC6C-AS1
    Summary
    Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in spleen (RPKM 21.6), lymph node (RPKM 18.5) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TMC6 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78107397..78132427, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (78998786..79026206, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76103478..76128508, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene trinucleotide repeat containing adaptor 6C Neighboring gene RNA, U6 small nuclear 625, pseudogene Neighboring gene ubiquitin conjugating enzyme E2 V2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12854 Neighboring gene CEB72 minisatellite repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9043 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76129823-76130348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76130349-76130874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76133293-76133934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12865 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76135219-76135858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9045 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:76137495-76138694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76144923-76145422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76147835-76148412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:76148413-76148989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12868 Neighboring gene transmembrane channel like 8 Neighboring gene chromosome 17 open reading frame 99 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76154005-76154506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9049 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:76160142-76160642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9050 Neighboring gene eukaryotic translation initiation factor 5A pseudogene 2 Neighboring gene synaptogyrin 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Epidermodysplasia verruciformis, susceptibility to, 1
    MedGen: C4722564 OMIM: 226400 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ17776, FLJ35597, FLJ37579, FLJ41777, FLJ45799

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mechanosensitive monoatomic ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intracellular zinc ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in tertiary granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    transmembrane channel-like protein 6
    Names
    TNRC6C antisense RNA 1
    epidermodysplasia verruciformis 1
    epidermodysplasia verruciformis protein 1
    expressed in activated T/LAK lymphocytes
    protein LAK-4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007879.1 RefSeqGene

      Range
      5001..24490
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_118

    mRNA and Protein(s)

    1. NM_001127198.5NP_001120670.1  transmembrane channel-like protein 6 isoform 1

      See identical proteins and their annotated locations for NP_001120670.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 encode the same protein.
      Source sequence(s)
      AC021593, AK074065, HY100488
      Consensus CDS
      CCDS32748.1
      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
      Related
      ENSP00000465261.1, ENST00000590602.6
      Conserved Domains (1) summary
      pfam07810
      Location:540646
      TMC; TMC domain
    2. NM_001321185.1NP_001308114.1  transmembrane channel-like protein 6 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC021593, BC023597, HY100488
      Consensus CDS
      CCDS32748.1
      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
      Related
      ENSP00000513793.1, ENST00000698550.1
      Conserved Domains (1) summary
      pfam07810
      Location:540646
      TMC; TMC domain
    3. NM_001374593.1NP_001361522.1  transmembrane channel-like protein 6 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC021593
      Consensus CDS
      CCDS92404.1
      UniProtKB/TrEMBL
      A0A8V8TLY1
      Related
      ENSP00000513791.1, ENST00000698548.1
      Conserved Domains (1) summary
      pfam07810
      Location:510586
      TMC; TMC domain
    4. NM_001374594.1NP_001361523.1  transmembrane channel-like protein 6 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC021593
      Consensus CDS
      CCDS92404.1
      UniProtKB/TrEMBL
      A0A8V8TLY1
      Conserved Domains (1) summary
      pfam07810
      Location:510586
      TMC; TMC domain
    5. NM_001374596.1NP_001361525.1  transmembrane channel-like protein 6 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC021593
      Consensus CDS
      CCDS32748.1
      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
      Conserved Domains (1) summary
      pfam07810
      Location:540646
      TMC; TMC domain
    6. NM_001375353.1NP_001362282.1  transmembrane channel-like protein 6 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC021593
      Consensus CDS
      CCDS32748.1
      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
      Related
      ENSP00000468255.2, ENST00000589271.6
      Conserved Domains (1) summary
      pfam07810
      Location:540646
      TMC; TMC domain
    7. NM_001375354.1NP_001362283.1  transmembrane channel-like protein 6 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC021593
      Consensus CDS
      CCDS32748.1
      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
      Related
      ENSP00000466885.2, ENST00000592063.6
      Conserved Domains (1) summary
      pfam07810
      Location:540646
      TMC; TMC domain
    8. NM_007267.7NP_009198.4  transmembrane channel-like protein 6 isoform 1

      See identical proteins and their annotated locations for NP_009198.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AK074065, BC023597, HY057592
      Consensus CDS
      CCDS32748.1
      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
      Related
      ENSP00000313408.2, ENST00000322914.7
      Conserved Domains (1) summary
      pfam07810
      Location:540646
      TMC; TMC domain

    RNA

    1. NR_168288.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC021593
    2. NR_168289.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC021593
    3. NR_168290.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC021593
    4. NR_168291.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC021593

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      78107397..78132427 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435260.1XP_047291216.1  transmembrane channel-like protein 6 isoform X2

    2. XM_047435269.1XP_047291225.1  transmembrane channel-like protein 6 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY1
    3. XM_047435253.1XP_047291209.1  transmembrane channel-like protein 6 isoform X1

      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
    4. XM_047435267.1XP_047291223.1  transmembrane channel-like protein 6 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY1
    5. XM_047435255.1XP_047291211.1  transmembrane channel-like protein 6 isoform X1

      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
    6. XM_024450556.2XP_024306324.1  transmembrane channel-like protein 6 isoform X1

      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
      Conserved Domains (1) summary
      pfam07810
      Location:540646
      TMC; TMC domain
    7. XM_047435274.1XP_047291230.1  transmembrane channel-like protein 6 isoform X4

    8. XM_047435259.1XP_047291215.1  transmembrane channel-like protein 6 isoform X2

    9. XM_047435278.1XP_047291234.1  transmembrane channel-like protein 6 isoform X6

    10. XM_047435271.1XP_047291227.1  transmembrane channel-like protein 6 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY1
    11. XM_047435265.1XP_047291221.1  transmembrane channel-like protein 6 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY1
    12. XM_047435250.1XP_047291206.1  transmembrane channel-like protein 6 isoform X1

      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
    13. XM_047435261.1XP_047291217.1  transmembrane channel-like protein 6 isoform X2

    14. XM_047435268.1XP_047291224.1  transmembrane channel-like protein 6 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY1
    15. XM_047435252.1XP_047291208.1  transmembrane channel-like protein 6 isoform X1

      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
    16. XM_047435273.1XP_047291229.1  transmembrane channel-like protein 6 isoform X4

    17. XM_047435258.1XP_047291214.1  transmembrane channel-like protein 6 isoform X2

    18. XM_047435277.1XP_047291233.1  transmembrane channel-like protein 6 isoform X6

      Related
      ENSP00000306405.6, ENST00000306591.11
    19. XM_047435264.1XP_047291220.1  transmembrane channel-like protein 6 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY1
    20. XM_011524256.2XP_011522558.1  transmembrane channel-like protein 6 isoform X2

      Conserved Domains (1) summary
      pfam07810
      Location:503600
      TMC; TMC domain
    21. XM_047435266.1XP_047291222.1  transmembrane channel-like protein 6 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY1
    22. XM_047435251.1XP_047291207.1  transmembrane channel-like protein 6 isoform X1

      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
    23. XM_047435272.1XP_047291228.1  transmembrane channel-like protein 6 isoform X4

    24. XM_047435257.1XP_047291213.1  transmembrane channel-like protein 6 isoform X2

    25. XM_047435276.1XP_047291232.1  transmembrane channel-like protein 6 isoform X6

    26. XM_047435256.1XP_047291212.1  transmembrane channel-like protein 6 isoform X1

      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
    27. XM_047435275.1XP_047291231.1  transmembrane channel-like protein 6 isoform X4

    28. XM_047435263.1XP_047291219.1  transmembrane channel-like protein 6 isoform X2

    29. XM_047435270.1XP_047291226.1  transmembrane channel-like protein 6 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY1
    30. XM_047435254.1XP_047291210.1  transmembrane channel-like protein 6 isoform X1

      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
    31. XM_011524257.4XP_011522559.1  transmembrane channel-like protein 6 isoform X5

      UniProtKB/TrEMBL
      Q7L2M4
      Conserved Domains (1) summary
      pfam07810
      Location:275372
      TMC; TMC domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      78998786..79026206 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314916.1XP_054170891.1  transmembrane channel-like protein 6 isoform X2

    2. XM_054314923.1XP_054170898.1  transmembrane channel-like protein 6 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY1
    3. XM_054314921.1XP_054170896.1  transmembrane channel-like protein 6 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY1
    4. XM_054314911.1XP_054170886.1  transmembrane channel-like protein 6 isoform X1

      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
    5. XM_054314913.1XP_054170888.1  transmembrane channel-like protein 6 isoform X1

      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
    6. XM_054314926.1XP_054170901.1  transmembrane channel-like protein 6 isoform X4

    7. XM_054314915.1XP_054170890.1  transmembrane channel-like protein 6 isoform X2

    8. XM_054314928.1XP_054170903.1  transmembrane channel-like protein 6 isoform X6

    9. XM_054314918.1XP_054170893.1  transmembrane channel-like protein 6 isoform X2

    10. XM_054314922.1XP_054170897.1  transmembrane channel-like protein 6 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY1
    11. XM_054314925.1XP_054170900.1  transmembrane channel-like protein 6 isoform X4

    12. XM_054314914.1XP_054170889.1  transmembrane channel-like protein 6 isoform X2

    13. XM_054314917.1XP_054170892.1  transmembrane channel-like protein 6 isoform X2

    14. XM_054314920.1XP_054170895.1  transmembrane channel-like protein 6 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY1
    15. XM_054314912.1XP_054170887.1  transmembrane channel-like protein 6 isoform X1

      UniProtKB/Swiss-Prot
      O43284, Q45VJ2, Q7Z403, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
    16. XM_054314927.1XP_054170902.1  transmembrane channel-like protein 6 isoform X4

    17. XM_054314919.1XP_054170894.1  transmembrane channel-like protein 6 isoform X2

    18. XM_054314924.1XP_054170899.1  transmembrane channel-like protein 6 isoform X3

      UniProtKB/TrEMBL
      A0A8V8TLY1

    RNA

    1. XR_008484777.1 RNA Sequence