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    TMEM120A transmembrane protein 120A [ Homo sapiens (human) ]

    Gene ID: 83862, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM120Aprovided by HGNC
    Official Full Name
    transmembrane protein 120Aprovided by HGNC
    Primary source
    HGNC:HGNC:21697
    See related
    Ensembl:ENSG00000189077 MIM:616550; AllianceGenome:HGNC:21697
    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
    Also known as
    NET29; TACAN; TMPIT
    Summary
    Predicted to enable monoatomic ion channel activity. Involved in fat cell differentiation; protein heterooligomerization; and protein homooligomerization. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 47.7), adrenal (RPKM 45.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM120A in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75986831..75994595, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77274487..77282162, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75616149..75623913, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26184 Neighboring gene RPL7L1 pseudogene 3 Neighboring gene cytochrome p450 oxidoreductase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75563905-75564733 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75566331-75566944 Neighboring gene small nucleolar RNA, H/ACA box 14A Neighboring gene Sharpr-MPRA regulatory region 2709 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75596037-75596916 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26186 Neighboring gene Sharpr-MPRA regulatory region 3792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75630123-75630623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26188 Neighboring gene serine/threonine/tyrosine interacting like 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75648513-75649014 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75676791-75677573 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75677574-75678355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26192 Neighboring gene malate dehydrogenase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Cryo-EM structure of the human TACAN in a closed state. Chen X, et al. Cell Rep, 2022 Mar 1. PMID 35235791
    2. TMEM120A is a coenzyme A-binding membrane protein with structural similarities to ELOVL fatty acid elongase. Xue J, et al. Elife, 2021 Aug 10. PMID 34374645, Free PMC Article
    3. Cryo-EM structures of human TMEM120A and TMEM120B. Ke M, et al. Cell Discov, 2021 Aug 31. PMID 34465718, Free PMC Article
    4. TMEM120A contains a specific coenzyme A-binding site and might not mediate poking- or stretch-induced channel activities in cells. Rong Y, et al. Elife, 2021 Aug 19. PMID 34409941, Free PMC Article
    5. Regulation of PKD2 channel function by TACAN. Liu X, et al. J Physiol, 2023 Jan. PMID 36420836

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cryo-EM structure of the human TACAN in a closed state.
      Title: Cryo-EM structure of the human TACAN in a closed state.
    2. Gain-of-function genetic screening identifies the antiviral function of TMEM120A via STING activation.
      Title: Gain-of-function genetic screening identifies the antiviral function of TMEM120A via STING activation.
    3. TMEM120A is a coenzyme A-binding membrane protein with structural similarities to ELOVL fatty acid elongase.
      Title: TMEM120A is a coenzyme A-binding membrane protein with structural similarities to ELOVL fatty acid elongase.
    Submit: New GeneRIF Correction

    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
    Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
    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)

    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 coenzyme A binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT enables monoatomic ion channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT enables monoatomic ion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables monoatomic ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in antiviral innate immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in detection of mechanical stimulus involved in sensory perception of pain ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in fat cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in monoatomic ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein heterooligomerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ion channel TACAN
    Names
    transmembrane protein induced by tumor necrosis factor alpha

    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_001317803.2 → NP_001304732.1  ion channel TACAN isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift compared to variant 1. The encoded isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC006330, BC040694, CX869634, DB460719
      Consensus CDS
      CCDS83192.1
      UniProtKB/TrEMBL
      A0A087X266
      Related
      ENSP00000484736.1, ENST00000439537.5
      Conserved Domains (1) summary
      pfam07851
      Location:13 → 306
      TMPIT; TMPIT-like protein

    2. NM_001363462.2 → NP_001350391.1  ion channel TACAN isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC006330, AF327923, AI806931, AL522284, BC051850, CX869634
      UniProtKB/TrEMBL
      A0A024R4K9
      Related
      ENSP00000481336.1, ENST00000440632.5
      Conserved Domains (1) summary
      pfam07851
      Location:13 → 188
      TMPIT; TMPIT-like protein

    3. NM_031925.3 → NP_114131.1  ion channel TACAN isoform 1

      See identical proteins and their annotated locations for NP_114131.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (1).
      Source sequence(s)
      AC006330, AF327923, BC051850, CX869634
      Consensus CDS
      CCDS64688.1
      UniProtKB/Swiss-Prot
      Q86TE9, Q8N6P1, Q9BXJ8
      Related
      ENSP00000473983.1, ENST00000493111.7
      Conserved Domains (1) summary
      pfam07851
      Location:13 → 336
      TMPIT; TMPIT-like protein

    RNA

    1. NR_156695.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006330, AF327923, AI806931, AL522284, BC051850, BM740069, CX869634

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      75986831..75994595 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420919.1 → XP_047276875.1  ion channel TACAN isoform X1

      UniProtKB/TrEMBL
      A0A024R4K9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      77274487..77282162 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359169.1 → XP_054215144.1  ion channel TACAN isoform X1

      UniProtKB/TrEMBL
      A0A024R4K9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXJ8.1 GenPept UniProtKB/Swiss-Prot:Q9BXJ8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials