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

Gene ID: 117532, updated on 24-Nov-2020

Summary

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
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

Genomic context

See TMC2 in Genome Data Viewer
Location:
20p13
Exon count:
20
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (2536573..2643580)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2517253..2622494)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes 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 uncharacterized LOC105372504 Neighboring gene uncharacterized LOC105372505 Neighboring gene NOP56 ribonucleoprotein repeat instability region Neighboring gene microRNA 1292 Neighboring gene NOP56 ribonucleoprotein

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

Phenotypes

Associated conditions

Description Tests
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mechanosensitive ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
detection of mechanical stimulus involved in sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
detection of mechanical stimulus involved in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
vestibular reflex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
stereocilium tip IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane channel-like protein 2
Names
transmembrane cochlear-expressed gene 2
transmembrane cochlear-expressed 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_042834.1 RefSeqGene

    Range
    5001..110178
    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
    Q8TDI7
    Related
    ENSP00000351732.1, ENST00000358864.1
    Conserved Domains (1) summary
    pfam07810
    Location:579685
    TMC; TMC domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005260660.4XP_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_001754152.1 RNA Sequence

    Related
    ENST00000644205.1
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