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TMC8 transmembrane channel like 8 [ Homo sapiens (human) ]

Gene ID: 147138, updated on 4-Oct-2020

Summary

Official Symbol
TMC8provided by HGNC
Official Full Name
transmembrane channel like 8provided by HGNC
Primary source
HGNC:HGNC:20474
See related
Ensembl:ENSG00000167895 MIM:605829
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
EV2; EVER2; EVIN2
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 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]
Expression
Biased expression in lymph node (RPKM 30.6), spleen (RPKM 30.0) and 9 other tissues See more
Orthologs

Genomic context

See TMC8 in Genome Data Viewer
Location:
17q25.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (78129298..78142968)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (76125505..76139049)

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 CEB72 minisatellite repeat instability region Neighboring gene transmembrane channel like 6 Neighboring gene chromosome 17 open reading frame 99 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ40668, FLJ43684, MGC40121, MGC102701

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mechanosensitive ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tumor necrosis factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular space HDA PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
transmembrane channel-like protein 8
Names
epidermodysplasia verruciformis 2
epidermodysplasia verruciformis protein 2

NCBI Reference Sequences (RefSeq)

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_007881.1 RefSeqGene

    Range
    5001..17191
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_119

mRNA and Protein(s)

  1. NM_152468.5NP_689681.2  transmembrane channel-like protein 8

    See identical proteins and their annotated locations for NP_689681.2

    Status: REVIEWED

    Source sequence(s)
    AC021593, AK128327, AY236500, DC407759
    Consensus CDS
    CCDS32749.1
    UniProtKB/Swiss-Prot
    Q8IU68
    UniProtKB/TrEMBL
    A0A024R8N8, B3KXZ8
    Related
    ENSP00000325561.4, ENST00000318430.10
    Conserved Domains (1) summary
    pfam07810
    Location:423524
    TMC; TMC domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    78129298..78142968
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024244.1XP_016879733.1  transmembrane channel-like protein 8 isoform X12

  2. XM_024450623.1XP_024306391.1  transmembrane channel-like protein 8 isoform X7

    Conserved Domains (1) summary
    pfam07810
    Location:383493
    TMC; TMC domain
  3. XM_024450617.1XP_024306385.1  transmembrane channel-like protein 8 isoform X1

    Conserved Domains (1) summary
    pfam07810
    Location:422532
    TMC; TMC domain
  4. XM_024450618.1XP_024306386.1  transmembrane channel-like protein 8 isoform X2

    Conserved Domains (1) summary
    pfam07810
    Location:422532
    TMC; TMC domain
  5. XM_024450620.1XP_024306388.1  transmembrane channel-like protein 8 isoform X4

    Conserved Domains (1) summary
    pfam07810
    Location:422532
    TMC; TMC domain
  6. XM_024450621.1XP_024306389.1  transmembrane channel-like protein 8 isoform X5

    Conserved Domains (1) summary
    pfam07810
    Location:422515
    TMC; TMC domain
  7. XM_024450622.1XP_024306390.1  transmembrane channel-like protein 8 isoform X6

    Conserved Domains (1) summary
    pfam07810
    Location:422515
    TMC; TMC domain
  8. XM_024450619.1XP_024306387.1  transmembrane channel-like protein 8 isoform X3

    Conserved Domains (1) summary
    pfam07810
    Location:418528
    TMC; TMC domain
  9. XM_024450624.1XP_024306392.1  transmembrane channel-like protein 8 isoform X8

  10. XM_024450626.1XP_024306394.1  transmembrane channel-like protein 8 isoform X13

  11. XM_024450627.1XP_024306395.1  transmembrane channel-like protein 8 isoform X14

  12. XM_024450625.1XP_024306393.1  transmembrane channel-like protein 8 isoform X11

  13. XM_017024243.1XP_016879732.1  transmembrane channel-like protein 8 isoform X10

  14. XM_017024242.2XP_016879731.1  transmembrane channel-like protein 8 isoform X9

    Related
    ENSP00000467482.1, ENST00000589691.1

RNA

  1. XR_002957978.1 RNA Sequence

  2. XR_002957976.1 RNA Sequence

  3. XR_002957973.1 RNA Sequence

  4. XR_002957974.1 RNA Sequence

  5. XR_002957979.1 RNA Sequence

  6. XR_002957977.1 RNA Sequence

  7. XR_002957975.1 RNA Sequence

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