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TMC5 transmembrane channel like 5 [ Homo sapiens (human) ]

Gene ID: 79838, updated on 11-Jun-2021

Summary

Official Symbol
TMC5provided by HGNC
Official Full Name
transmembrane channel like 5provided by HGNC
Primary source
HGNC:HGNC:22999
See related
Ensembl:ENSG00000103534 MIM:617197
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
Expression
Biased expression in small intestine (RPKM 21.9), stomach (RPKM 18.3) and 10 other tissues See more
Orthologs
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Genomic context

See TMC5 in Genome Data Viewer
Location:
16p12.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (19410539..19499113)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (19421861..19510435)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371114 Neighboring gene C-type lectin domain containing 19A Neighboring gene long intergenic non-protein coding RNA 2858 Neighboring gene RNA, U4 small nuclear 46, pseudogene Neighboring gene glycerophosphodiester phosphodiesterase 1 Neighboring gene centriolar coiled-coil protein 110

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
A genome-wide association study of sleep habits and insomnia.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13593

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
transmembrane channel-like protein 5

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.

mRNA and Protein(s)

  1. NM_001105248.1NP_001098718.1  transmembrane channel-like protein 5 isoform a

    See identical proteins and their annotated locations for NP_001098718.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (A). Variants 1 and 4 encode the same isoform (A).
    Source sequence(s)
    AI738488, AK023655, BC070101, CR749359
    Consensus CDS
    CCDS45431.1
    UniProtKB/Swiss-Prot
    Q6UXY8
    Related
    ENSP00000379531.2, ENST00000396229.6
    Conserved Domains (1) summary
    pfam07810
    Location:729825
    TMC; TMC domain
  2. NM_001105249.1NP_001098719.1  transmembrane channel-like protein 5 isoform b

    See identical proteins and their annotated locations for NP_001098719.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1, which results in a shorter protein (isoform B), compared to isoform A.
    Source sequence(s)
    AI738488, AK023655, BC070101, CR749359
    Consensus CDS
    CCDS42126.1
    UniProtKB/Swiss-Prot
    Q6UXY8
    Related
    ENSP00000370822.4, ENST00000381414.8
    Conserved Domains (1) summary
    pfam07810
    Location:729825
    TMC; TMC domain
  3. NM_001261841.2NP_001248770.1  transmembrane channel-like protein 5 isoform a

    See identical proteins and their annotated locations for NP_001248770.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate promoter, compared to variant 1. Variants 1 and 4 encode the same isoform (A).
    Source sequence(s)
    AK023655, AK304431, BC070101, CR749359, DB222660
    Consensus CDS
    CCDS45431.1
    UniProtKB/Swiss-Prot
    Q6UXY8
    UniProtKB/TrEMBL
    B7Z946
    Related
    ENSP00000446274.2, ENST00000542583.7
    Conserved Domains (1) summary
    pfam07810
    Location:729825
    TMC; TMC domain
  4. NM_001308161.1NP_001295090.1  transmembrane channel-like protein 5 isoform d

    See identical proteins and their annotated locations for NP_001295090.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and lacks an in-frame exon in the coding region compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AC130456, AK299055, CR749359
    Consensus CDS
    CCDS76837.1
    UniProtKB/Swiss-Prot
    Q6UXY8
    UniProtKB/TrEMBL
    B7Z5K3, F5GYU8
    Related
    ENSP00000441227.1, ENST00000541464.5
    Conserved Domains (1) summary
    pfam07810
    Location:677773
    TMC; TMC domain
  5. NM_024780.5NP_079056.2  transmembrane channel-like protein 5 isoform c

    See identical proteins and their annotated locations for NP_079056.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks multiple 5' exons and uses an alternate promoter and start codon, compared to variant 1, which results in a protein (isoform C) with a shorter, distinct N-terminus, compared to isoform A.
    Source sequence(s)
    AK023655, AY236494, BC027602, CR749359
    Consensus CDS
    CCDS10577.1
    UniProtKB/Swiss-Prot
    Q6UXY8
    Related
    ENSP00000219821.5, ENST00000219821.9
    Conserved Domains (1) summary
    pfam07810
    Location:483579
    TMC; TMC domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    19410539..19499113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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