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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

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