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    TSC22D4 TSC22 domain family member 4 [ Homo sapiens (human) ]

    Gene ID: 81628, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TSC22D4provided by HGNC
    Official Full Name
    TSC22 domain family member 4provided by HGNC
    Primary source
    HGNC:HGNC:21696
    See related
    Ensembl:ENSG00000166925 MIM:611914; AllianceGenome:HGNC:21696
    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
    THG1; THG-1; TILZ2; SPACDR
    Summary
    TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in brain (RPKM 27.0), spleen (RPKM 25.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100466519..100479214, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101706601..101719289, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100064142..100076837, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100034207-100034710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100034711-100035213 Neighboring gene PPP1R35 antisense RNA 1 Neighboring gene protein phosphatase 1 regulatory subunit 35 Neighboring gene CRISPRi-validated cis-regulatory element chr7.3510 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100044099-100044599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18434 Neighboring gene TSC22D4-C7orf61 readthrough Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100054725-100054887 Neighboring gene sperm acrosome developmental regulator Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100069322-100070108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100070109-100070893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26369 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100080938-100081153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100081845-100082371 Neighboring gene Sharpr-MPRA regulatory region 11703 Neighboring gene Sharpr-MPRA regulatory region 1011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100087809-100088334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100088335-100088858 Neighboring gene neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18440 Neighboring gene uncharacterized LOC107986829

    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. TSC22D4 promotes TGFβ1-induced activation of hepatic stellate cells. Sakurai M, et al. Biochem Biophys Res Commun, 2022 Aug 27. PMID 35714570
    2. Hepatocyte-specific activity of TSC22D4 triggers progressive NAFLD by impairing mitochondrial function. Wolff G, et al. Mol Metab, 2022 Jun. PMID 35378329, Free PMC Article
    3. Transforming growth factor-beta-stimulated clone-22 is a member of a family of leucine zipper proteins that can homo- and heterodimerize and has transcriptional repressor activity. Kester HA, et al. J Biol Chem, 1999 Sep 24. PMID 10488076
    4. THG-1 suppresses SALL4 degradation to induce stemness genes and tumorsphere formation through antagonizing NRBP1 in squamous cell carcinoma cells. Hwang J, et al. Biochem Biophys Res Commun, 2020 Mar 5. PMID 31864704
    5. Promotion of cellular senescence by THG-1/TSC22D4 knockout through activation of JUNB. Zhang X, et al. Biochem Biophys Res Commun, 2020 Feb 19. PMID 31806366

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Promotion of squamous cell carcinoma tumorigenesis by oncogene-mediated THG-1/TSC22D4 phosphorylation.
      Title: Promotion of squamous cell carcinoma tumorigenesis by oncogene-mediated THG-1/TSC22D4 phosphorylation.
    2. TSC22D4 promotes TGFbeta1-induced activation of hepatic stellate cells.
      Title: TSC22D4 promotes TGFβ1-induced activation of hepatic stellate cells.
    3. Hepatocyte-specific activity of TSC22D4 triggers progressive NAFLD by impairing mitochondrial function.
      Title: Hepatocyte-specific activity of TSC22D4 triggers progressive NAFLD by impairing mitochondrial function.
    4. THG-1 suppresses SALL4 degradation to induce stemness genes and tumorsphere formation through antagonizing NRBP1 in squamous cell carcinoma cells.
      Title: THG-1 suppresses SALL4 degradation to induce stemness genes and tumorsphere formation through antagonizing NRBP1 in squamous cell carcinoma cells.
    5. Promotion of cellular senescence by THG-1/TSC22D4 knockout through activation of JUNB.
      Title: Promotion of cellular senescence by THG-1/TSC22D4 knockout through activation of JUNB.
    6. Data suggest transcription factor TSC22D4 inhibition as an insulin sensitizing option in diabetes therapy.
      Title: Control of diabetic hyperglycaemia and insulin resistance through TSC22D4.
    7. tRNA(His) guanylyltransferase (THG1), a unique 3'-5' nucleotidyl transferase, shares unexpected structural homology with canonical 5'-3' DNA polymerases.
      Title: tRNA(His) guanylyltransferase (THG1), a unique 3'-5' nucleotidyl transferase, shares unexpected structural homology with canonical 5'-3' DNA polymerases.
    8. Long form of TSC22DF is evolutionarily conserved and has growth-regulating potential.
      Title: Madm (Mlf1 adapter molecule) cooperates with Bunched A to promote growth in Drosophila.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: SPACDR

    Readthrough TSC22D4-C7ORF61

    Readthrough gene: TSC22D4-C7ORF61, Included gene: SPACDR

    Homology

    Clone Names

    • FLJ17842

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron cellular homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron projection extension ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to osmotic stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    TSC22 domain family protein 4
    Names
    TSC22-related-inducible leucine zipper protein 2
    sperm acrosome developmental regulator
    tsc-22-like protein THG-1

    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_001303043.2 → NP_001289972.1  TSC22 domain family protein 4 isoform a

      See identical proteins and their annotated locations for NP_001289972.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR. Variants 1 and 2 encode the protein.
      Source sequence(s)
      AA991748, AK296580, AK314824, BC001486, BC010406
      Consensus CDS
      CCDS5695.1
      UniProtKB/Swiss-Prot
      A4D2C3, A8MWR6, D6W5V9, Q9Y3Q8
      Conserved Domains (2) summary
      pfam10018
      Location:137 → 224
      Med4; Vitamin-D-receptor interacting Mediator subunit 4
      pfam01166
      Location:326 → 380
      TSC22; TSC-22/dip/bun family

    2. NM_030935.5 → NP_112197.1  TSC22 domain family protein 4 isoform a

      See identical proteins and their annotated locations for NP_112197.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the protein.
      Source sequence(s)
      AA991748, AC092849, AK296580, BC001486, BC010406
      Consensus CDS
      CCDS5695.1
      UniProtKB/Swiss-Prot
      A4D2C3, A8MWR6, D6W5V9, Q9Y3Q8
      Related
      ENSP00000300181.2, ENST00000300181.7
      Conserved Domains (2) summary
      pfam10018
      Location:137 → 224
      Med4; Vitamin-D-receptor interacting Mediator subunit 4
      pfam01166
      Location:326 → 380
      TSC22; TSC-22/dip/bun family

    RNA

    1. NR_130118.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' region compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AA991748, AC092849, AK296580, AK297702, BC001486, BC010406

    2. NR_130119.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' region compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AA991748, AK296580, BC001486, BC010406, BX341171
      Related
      ENST00000393991.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      100466519..100479214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101706601..101719289 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3Q8.2 GenPept UniProtKB/Swiss-Prot:Q9Y3Q8

    Gene LinkOut

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

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