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

Gene ID: 11322, updated on 23-Nov-2023

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
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Genomic context

See TMC6 in Genome Data Viewer
Location:
17q25.3
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (78107397..78132427, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (78998786..79026206, complement)
105.20220307 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 biological_process ND
No biological Data available
more info
 
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
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_2023_10

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