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

Gene ID: 79905, updated on 18-Sep-2024

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; AllianceGenome:HGNC:23000
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
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:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (18983934..19063942)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (18914769..18994754)
RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr16:18922767-18923268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10522 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7237 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:18937597-18938209 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:18938210-18938823 Neighboring gene SMG1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:18983611-18984111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7239 Neighboring gene Sharpr-MPRA regulatory region 10247 Neighboring gene RNA, U6 small nuclear 1340, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19041109-19041653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10523 Neighboring gene COQ7 divergent transcript Neighboring gene uncharacterized LOC124903656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10525 Neighboring gene coenzyme Q7, hydroxylase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

EBI GWAS Catalog

Description
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ21240, DKFZp781O2274

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ion channel inhibitor 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
 
Process Evidence Code Pubs
involved_in monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of mechanical stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in 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
    B3KSZ3, 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
    UniProtKB/TrEMBL
    B3KSZ3
  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
    E7ERB6, Q5H9Q8, Q7Z402, Q7Z5M4, Q86WX0, Q9H766
    UniProtKB/TrEMBL
    B3KSZ3
    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: 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_000016.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047434662.1XP_047290618.1  transmembrane channel-like protein 7 isoform X2

  2. XM_047434661.1XP_047290617.1  transmembrane channel-like protein 7 isoform X1

    UniProtKB/TrEMBL
    B3KSZ3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    18914769..18994754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054313960.1XP_054169935.1  transmembrane channel-like protein 7 isoform X2

  2. XM_054313959.1XP_054169934.1  transmembrane channel-like protein 7 isoform X1

    UniProtKB/TrEMBL
    B3KSZ3