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TMC7 transmembrane channel like 7 [ Homo sapiens (human) ]

Gene ID: 79905, updated on 5-Sep-2021

Summary

Official Symbol
TMC7provided by HGNC
Official Full Name
transmembrane channel like 7provided by HGNC
Primary source
HGNC:HGNC:23000
See related
Ensembl:ENSG00000170537 MIM:617198
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
Broad expression in testis (RPKM 4.7), brain (RPKM 4.0) and 15 other tissues See more
Orthologs
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Genomic context

See TMC7 in Genome Data Viewer
Location:
16p12.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (18983934..19063942)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (18995256..19075264)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SMG1 nonsense mediated mRNA decay associated PI3K related kinase Neighboring gene putative uncharacterized protein encoded by LINC00269 Neighboring gene SMG1 divergent transcript Neighboring gene RNA, U6 small nuclear 1340, pseudogene Neighboring gene COQ7 divergent transcript Neighboring gene coenzyme Q7, hydroxylase Neighboring gene ITPRIP like 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

Phenotypes

Associated conditions

Description Tests
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21240, DKFZp781O2274

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 integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane channel-like protein 7

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_001160364.2NP_001153836.1  transmembrane channel-like protein 7 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in both UTR's and the coding region but maintains the reading frame, compared to variant 3. This results in a protein that is shorter than isoform c.
    Source sequence(s)
    AC099518
    Consensus CDS
    CCDS53992.1
    UniProtKB/Swiss-Prot
    Q7Z402
    Related
    ENSP00000397081.3, ENST00000421369.3
    Conserved Domains (1) summary
    pfam07810
    Location:381483
    TMC; TMC domain
  2. NM_001300732.2NP_001287661.1  transmembrane channel-like protein 7 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (c).
    Source sequence(s)
    AC099518
    Consensus CDS
    CCDS73837.1
    UniProtKB/TrEMBL
    H3BNW8
    Related
    ENSP00000455041.1, ENST00000569532.5
    Conserved Domains (1) summary
    pfam07810
    Location:491593
    TMC; TMC domain
  3. NM_001324263.1NP_001311192.1  transmembrane channel-like protein 7 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC099518
  4. NM_001324265.1NP_001311194.1  transmembrane channel-like protein 7 isoform e

    Status: VALIDATED

    Source sequence(s)
    AC099518
  5. NM_001324268.1NP_001311197.1  transmembrane channel-like protein 7 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC099518
  6. NM_024847.4NP_079123.3  transmembrane channel-like protein 7 isoform a

    See identical proteins and their annotated locations for NP_079123.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) includes an alternate penultimate exon, compared to variant 3, resulting in an alternate 3' coding region and longer 3' UTR. It encodes isoform a which has a distinct C-terminus, compared to isoform c.
    Source sequence(s)
    AC099518
    Consensus CDS
    CCDS10573.1
    UniProtKB/Swiss-Prot
    Q7Z402
    Related
    ENSP00000304710.5, ENST00000304381.10
    Conserved Domains (1) summary
    pfam07810
    Location:491593
    TMC; TMC domain

RNA

  1. NR_136733.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC099518

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
    18983934..19063942
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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