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

Gene ID: 83862, updated on 9-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
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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: 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

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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