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TMC2 transmembrane channel like 2 [ Homo sapiens (human) ]

Gene ID: 117532, updated on 5-Jul-2025
Official Symbol
TMC2provided by HGNC
Official Full Name
transmembrane channel like 2provided by HGNC
Primary source
HGNC:HGNC:16527
See related
Ensembl:ENSG00000149488 MIM:606707; AllianceGenome:HGNC:16527
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
C20orf145
Summary
This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]
Expression
Low expression observed in reference dataset See more
Orthologs
NEW
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See TMC2 in Genome Data Viewer
Location:
20p13
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (2536573..2643580)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (2566964..2674609)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2517219..2624226)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17467 Neighboring gene small nucleolar RNA, C/D box 119 Neighboring gene small nuclear ribonucleoprotein polypeptides B and B1 Neighboring gene zinc finger protein 343 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:2480910-2482109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17469 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:2490387-2490982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12603 Neighboring gene uncharacterized LOC105372504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2538685-2539395 Neighboring gene uncharacterized LOC105372505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12604 Neighboring gene NOP56 ribonucleoprotein repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17470 Neighboring gene small nucleolar RNA, C/D box 110 Neighboring gene microRNA 1292 Neighboring gene NOP56 ribonucleoprotein

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

EBI GWAS Catalog

Description
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
enables calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables mechanosensitive monoatomic ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables mechanosensitive monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
 
enables mechanosensitive monoatomic ion channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables voltage-gated calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cuticular plate IEA
Inferred from Electronic Annotation
more info
 
located_in cuticular plate ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in stereocilium IEA
Inferred from Electronic Annotation
more info
 
located_in stereocilium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in stereocilium tip IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
transmembrane channel-like protein 2
Names
transmembrane cochlear-expressed gene 2
transmembrane cochlear-expressed protein 2

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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_042834.1 RefSeqGene

    Range
    4967..111974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_080751.3NP_542789.2  transmembrane channel-like protein 2

    See identical proteins and their annotated locations for NP_542789.2

    Status: REVIEWED

    Source sequence(s)
    AL049712
    Consensus CDS
    CCDS13029.2
    UniProtKB/Swiss-Prot
    Q5JXT0, Q5JXT1, Q6UWW4, Q6ZS41, Q8N9F3, Q8TDI7, Q9BYN2, Q9BYN3, Q9BYN4, Q9BYN5
    Related
    ENSP00000351732.1, ENST00000358864.2
    Conserved Domains (1) summary
    pfam07810
    Location:579685
    TMC; TMC domain

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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    2536573..2643580
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260660.5XP_005260717.1  transmembrane channel-like protein 2 isoform X1

    Conserved Domains (2) summary
    pfam05672
    Location:95187
    MAP7; MAP7 (E-MAP-115) family
    pfam07810
    Location:604710
    TMC; TMC domain

RNA

  1. XR_001754152.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    2566964..2674609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322937.1XP_054178912.1  transmembrane channel-like protein 2 isoform X1

RNA

  1. XR_008485230.1 RNA Sequence