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TMC4 transmembrane channel like 4 [ Homo sapiens (human) ]

Gene ID: 147798, updated on 19-Sep-2024

Summary

Official Symbol
TMC4provided by HGNC
Official Full Name
transmembrane channel like 4provided by HGNC
Primary source
HGNC:HGNC:22998
See related
Ensembl:ENSG00000167608 MIM:617181; AllianceGenome:HGNC:22998
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. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in duodenum (RPKM 27.9), colon (RPKM 25.4) and 14 other tissues See more
Orthologs
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Genomic context

See TMC4 in Genome Data Viewer
Location:
19q13.42
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54160108..54173160, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57240374..57253360, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54663846..54676854, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CCR4-NOT transcription complex subunit 3 Neighboring gene uncharacterized LOC102724273 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54662792-54663461 Neighboring gene leukocyte receptor cluster member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54676977-54677793 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54677794-54678609 Neighboring gene membrane bound O-acyltransferase domain containing 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54683683-54684198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54684199-54684714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54684715-54685229 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54687509-54688008 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54692762-54693444 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:54693445-54694126 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:54695049-54695250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54696095-54696610 Neighboring gene tRNA splicing endonuclease subunit 34 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54704113-54704783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54709694-54710202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54710710-54711217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54711218-54711724 Neighboring gene ribosomal protein S9

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC39329

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mechanosensitive monoatomic ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables voltage-gated chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables voltage-gated chloride channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
voltage-gated chloride channel TMC4
Names
testicular tissue protein Li 204
transmembrane channel-like protein 4

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_001145303.3NP_001138775.2  voltage-gated chloride channel TMC4 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA578987, AC245052, AY236492, BC025323, BQ082417, BU680152
    Consensus CDS
    CCDS46174.1
    UniProtKB/TrEMBL
    A0A087WT65, A0A0G2JPL6
    Related
    ENSP00000477627.1, ENST00000617472.4
    Conserved Domains (1) summary
    pfam07810
    Location:480558
    TMC; TMC domain
  2. NM_144686.4NP_653287.2  voltage-gated chloride channel TMC4 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment in the 5' coding region compared to variant 1. The resulting isoform (2) is shorter but has the same N- and C-termini compared to isoform 1.
    Source sequence(s)
    AA578987, AC245052, AY236492, BC025323, BQ082417, BU680152
    Consensus CDS
    CCDS12882.1
    UniProtKB/TrEMBL
    A0A087WVI4, A0A0G2JMM6
    Related
    ENSP00000479458.1, ENST00000619895.5
    Conserved Domains (1) summary
    pfam07810
    Location:474552
    TMC; TMC domain

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    54160108..54173160 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526486.3XP_011524788.1  voltage-gated chloride channel TMC4 isoform X1

    Conserved Domains (1) summary
    pfam07810
    Location:320398
    TMC; TMC domain

RNA

  1. XR_935741.3 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    134958..147932 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329665.1XP_054185640.1  voltage-gated chloride channel TMC4 isoform X1

RNA

  1. XR_008485656.1 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    134959..147968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330144.1XP_054186119.1  voltage-gated chloride channel TMC4 isoform X2

  2. XM_054330143.1XP_054186118.1  voltage-gated chloride channel TMC4 isoform X1

RNA

  1. XR_008485690.1 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    134959..147968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330457.1XP_054186432.1  voltage-gated chloride channel TMC4 isoform X3

  2. XM_054330456.1XP_054186431.1  voltage-gated chloride channel TMC4 isoform X1

RNA

  1. XR_008485695.1 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    134959..147968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330710.1XP_054186685.1  voltage-gated chloride channel TMC4 isoform X4

  2. XM_054330709.1XP_054186684.1  voltage-gated chloride channel TMC4 isoform X1

RNA

  1. XR_008485701.1 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NW_003571058.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    134959..147968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330941.1XP_054186916.1  voltage-gated chloride channel TMC4 isoform X5

  2. XM_054330940.1XP_054186915.1  voltage-gated chloride channel TMC4 isoform X1

RNA

  1. XR_008485705.1 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    134959..147968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331219.1XP_054187194.1  voltage-gated chloride channel TMC4 isoform X6

  2. XM_054331218.1XP_054187193.1  voltage-gated chloride channel TMC4 isoform X1

RNA

  1. XR_008485712.1 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    134959..147938 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331491.1XP_054187466.1  voltage-gated chloride channel TMC4 isoform X1

RNA

  1. XR_008485719.1 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

    Range
    134959..147968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333530.1XP_054189505.1  voltage-gated chloride channel TMC4 isoform X7

  2. XM_054333529.1XP_054189504.1  voltage-gated chloride channel TMC4 isoform X1

RNA

  1. XR_008485848.1 RNA Sequence

Reference GRCh38.p14 ALT_REF_LOCI_9

Genomic

  1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

    Range
    134959..147968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333628.1XP_054189603.1  voltage-gated chloride channel TMC4 isoform X8

  2. XM_054333627.1XP_054189602.1  voltage-gated chloride channel TMC4 isoform X1

RNA

  1. XR_008485853.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    57240374..57253360 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319880.1XP_054175855.1  voltage-gated chloride channel TMC4 isoform X9

  2. XM_054319879.1XP_054175854.1  voltage-gated chloride channel TMC4 isoform X1

RNA

  1. XR_008485087.1 RNA Sequence