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TMC3 transmembrane channel like 3 [ Homo sapiens (human) ]

Gene ID: 342125, updated on 5-Mar-2024

Summary

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Official Symbol
TMC3provided by HGNC
Official Full Name
transmembrane channel like 3provided by HGNC
Primary source
HGNC:HGNC:22995
See related
Ensembl:ENSG00000188869 MIM:617196; AllianceGenome:HGNC:22995
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable mechanosensitive ion channel activity. Predicted to be involved in ion transmembrane transport. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
15q25.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (81331088..81374213, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (79195160..79238283, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (81623429..81666554, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 161 Neighboring gene acidic nuclear phosphoprotein 32 family member B pseudogene 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:81481874-81483073 Neighboring gene interleukin 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9949 Neighboring gene Sharpr-MPRA regulatory regions 3481 and 15421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9951 Neighboring gene NANOG hESC enhancer GRCh37_chr15:81585795-81586313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81588972-81589538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81589539-81590103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9956 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:81595578-81596777 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:81600895-81601072 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:81605226-81606425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81648807-81649306 Neighboring gene TMC3 antisense RNA 1 Neighboring gene StAR related lipid transfer domain containing 5 Neighboring gene NANOG hESC enhancer GRCh37_chr15:81841057-81841558 Neighboring gene uncharacterized LOC102723985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81943819-81944319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81944380-81944880 Neighboring gene uncharacterized LOC105370921 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81966619-81967178

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function. Tang W, et al. PLoS One, 2014. PMID 24983941, Free PMC Article
  2. Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics. Dong C, et al. J Lipid Res, 2011 Jul. PMID 21558551, Free PMC Article
  3. DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. Ahmad J, et al. Hum Genet, 2005 Apr. PMID 15711797
  4. Parkinson disease loci in the mid-western Amish. Davis MF, et al. Hum Genet, 2013 Nov. PMID 23793441, Free PMC Article
  5. Conductance and block of hair-cell mechanotransducer channels in transmembrane channel-like protein mutants. Beurg M, et al. J Gen Physiol, 2014 Jul. PMID 24981230, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Parkinson disease loci in the mid-western Amish.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mechanosensitive monoatomic ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane channel-like protein 3

NCBI Reference Sequences (RefSeq)

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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_054935.1 RefSeqGene

    Range
    4865..47990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080532.3 → NP_001074001.1  transmembrane channel-like protein 3

    See identical proteins and their annotated locations for NP_001074001.1

    Status: VALIDATED

    Source sequence(s)
    AC103858, AY236490, AY263163, BC157874
    Consensus CDS
    CCDS45324.1
    UniProtKB/Swiss-Prot
    A2RTY2, B2RXJ3, Q7Z405, Q7Z5M5
    UniProtKB/TrEMBL
    H0YK69
    Related
    ENSP00000352413.5, ENST00000359440.6
    Conserved Domains (1) summary
    pfam07810
    Location:504 → 610
    TMC; TMC domain

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    81331088..81374213 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    79195160..79238283 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_181841.1: Suppressed sequence

    Description
    NM_181841.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z5M5.3 GenPept UniProtKB/Swiss-Prot:Q7Z5M5

Gene LinkOut

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