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] See more...

Aliases for TSC22D4 Gene

Aliases for TSC22D4 Gene

  • TSC22 Domain Family Member 4 2 3 5
  • TILZ2 2 3 4
  • TSC22-Related-Inducible Leucine Zipper Protein 2 3 4
  • TSC22 Domain Family Protein 4 3 4
  • Tsc-22-Like Protein THG-1 3 4
  • THG-1 2 3
  • THG1 3 4
  • TSC22 Domain Family, Member 4 2
  • TSC22D4 5

External Ids for TSC22D4 Gene

Previous GeneCards Identifiers for TSC22D4 Gene

  • GC07M099709
  • GC07M099902
  • GC07M100060
  • GC07M094697

Summaries for TSC22D4 Gene

Entrez Gene Summary for TSC22D4 Gene

  • 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]

GeneCards Summary for TSC22D4 Gene

TSC22D4 (TSC22 Domain Family Member 4) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is TSC22D1.

UniProtKB/Swiss-Prot Summary for TSC22D4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSC22D4 Gene

Genomics for TSC22D4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TSC22D4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J100475 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +1.5 1457 4.5 TBP SP1 ZBTB10 FEZF1 MNT IKZF1 SMAD5 ETS1 HES1 MBD2 TSC22D4 SRRT ZSCAN25 GIGYF1 ZNF655 ZNF3 TRIM4 ENSG00000242798 AP4M1 STAG3L5P
GH07J100480 Promoter/Enhancer 0.5 Ensembl dbSUPER 250.7 -1.2 -1169 0.4 MK280607-097 TSC22D4 NYAP1 RF00017-6483
GH07J100538 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.6 -65.3 -65334 12.7 CHD2 TBP ZBTB10 SP1 MXD4 BCL11A CEBPA FOXA1 MNT DEK lnc-SAP25-3 AGFG2 SAP25 ZSCAN25 SRRT PPP1R35 GIGYF1 ENSG00000242798 PCOLCE MEPCE
GH07J100449 Promoter/Enhancer 1.7 EPDnew ENCODE CraniofacialAtlas 12.7 +28.5 28504 1.5 ZSCAN16 ZBTB10 NR2C1 SMAD5 MBD2 ZNF217 BRCA1 CTCF ZEB1 NONO lnc-C7orf61-1 PPP1R35 TSC22D4 NYAP1 MEPCE ZCWPW1 PILRA HSALNG0060008 C7orf61
GH07J100438 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.5 +36.2 36213 8.4 TBP CEBPA MNT IKZF1 HES1 MBD2 BHLHE40 ZIC2 HOMEZ KDM6A PILRA SRRT GIGYF1 MEPCE ENSG00000242798 PPP1R35 ZSCAN25 PILRB AP4M1 LRCH4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSC22D4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TSC22D4

Top Transcription factor binding sites by QIAGEN in the TSC22D4 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • E47
  • PPAR-gamma2
  • Sp1
  • YY1

Genomic Locations for TSC22D4 Gene

Latest Assembly
chr7:100,463,359-100,479,232
(GRCh38/hg38)
Size:
15,874 bases
Orientation:
Minus strand

Previous Assembly
chr7:100,064,142-100,076,837
(GRCh37/hg19 by Entrez Gene)
Size:
12,696 bases
Orientation:
Minus strand

chr7:100,060,982-100,076,902
(GRCh37/hg19 by Ensembl)
Size:
15,921 bases
Orientation:
Minus strand

Genomic View for TSC22D4 Gene

Genes around TSC22D4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSC22D4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSC22D4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSC22D4 Gene

Proteins for TSC22D4 Gene

  • Protein details for TSC22D4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3Q8-T22D4_HUMAN
    Recommended name:
    TSC22 domain family protein 4
    Protein Accession:
    Q9Y3Q8
    Secondary Accessions:
    • A4D2C3
    • A8MWR6
    • D6W5V9

    Protein attributes for TSC22D4 Gene

    Size:
    395 amino acids
    Molecular mass:
    41026 Da
    Quaternary structure:
    • Forms a homodimer or heterodimer. Can form a heterodimer with TSC22D1.

    Alternative splice isoforms for TSC22D4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSC22D4 Gene

Post-translational modifications for TSC22D4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TSC22D4 Gene

No data available for DME Specific Peptides for TSC22D4 Gene

Domains & Families for TSC22D4 Gene

Gene Families for TSC22D4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TSC22D4 Gene

InterPro:
Blocks:
  • TSC-22 / Dip / Bun family
ProtoNet:

Suggested Antigen Peptide Sequences for TSC22D4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57331, highly similar to TSC22 domain family protein 4 (A8MWR6_HUMAN)
  • TSC22D4 protein (Q8IV54_HUMAN)
  • Tsc-22-like protein THG-1 (T22D4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y3Q8

UniProtKB/Swiss-Prot:

T22D4_HUMAN :
  • Belongs to the TSC-22/Dip/Bun family.
Family:
  • Belongs to the TSC-22/Dip/Bun family.
genes like me logo Genes that share domains with TSC22D4: view

Function for TSC22D4 Gene

Molecular function for TSC22D4 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor.

Phenotypes From GWAS Catalog for TSC22D4 Gene

Gene Ontology (GO) - Molecular Function for TSC22D4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with TSC22D4: view
genes like me logo Genes that share phenotypes with TSC22D4: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSC22D4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TSC22D4 Gene

Localization for TSC22D4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSC22D4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSC22D4 gene
Compartment Confidence
nucleus 4
cytosol 3
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TSC22D4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with TSC22D4: view

Pathways & Interactions for TSC22D4 Gene

PathCards logo

SuperPathways for TSC22D4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TSC22D4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006970 response to osmotic stress IBA 21873635
GO:0045892 negative regulation of transcription, DNA-templated NAS 10488076
genes like me logo Genes that share ontologies with TSC22D4: view

No data available for Pathways by source and SIGNOR curated interactions for TSC22D4 Gene

Drugs & Compounds for TSC22D4 Gene

No Compound Related Data Available

Transcripts for TSC22D4 Gene

mRNA/cDNA for TSC22D4 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSC22D4

Alternative Splicing Database (ASD) splice patterns (SP) for TSC22D4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c
SP1: - - - - - -
SP2: - - - - - -
SP3: - -
SP4: -
SP5:
SP6:
SP7: -
SP8: -

Relevant External Links for TSC22D4 Gene

GeneLoc Exon Structure for
TSC22D4

Expression for TSC22D4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TSC22D4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TSC22D4 Gene

This gene is overexpressed in Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for TSC22D4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.3) and NK cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TSC22D4 Gene



Protein tissue co-expression partners for TSC22D4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TSC22D4

SOURCE GeneReport for Unigene cluster for TSC22D4 Gene:

Hs.469798

Evidence on tissue expression from TISSUES for TSC22D4 Gene

  • Skin(4.5)
  • Liver(4.3)
  • Lung(4.2)
  • Blood(4.2)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with TSC22D4: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TSC22D4 Gene

Orthologs for TSC22D4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSC22D4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TSC22D4 30 31
  • 99.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TSC22D4 30 31
  • 88.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tsc22d4 30
  • 85.27 (n)
Mouse
(Mus musculus)
Mammalia Tsc22d4 30 17 31
  • 84.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TSC22D4 31
  • 70 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TSC22D4 31
  • 67 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 8 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii TSC22D4 31
  • 26 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta bun 31
  • 9 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C30G4.7 31
  • 34 (a)
ManyToMany
T18D3.7 31
  • 26 (a)
ManyToMany
Species where no ortholog for TSC22D4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for TSC22D4 Gene

ENSEMBL:
Gene Tree for TSC22D4 (if available)
TreeFam:
Gene Tree for TSC22D4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TSC22D4: view image

Paralogs for TSC22D4 Gene

Paralogs for TSC22D4 Gene

(3) SIMAP similar genes for TSC22D4 Gene using alignment to 5 proteins:

  • T22D4_HUMAN
  • A8MWR6_HUMAN
  • H7BZ77_HUMAN
  • H7C0M8_HUMAN
  • Q8IV54_HUMAN
genes like me logo Genes that share paralogs with TSC22D4: view

Variants for TSC22D4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TSC22D4 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
VAR_036284 A breast cancer sample p.Val329Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TSC22D4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TSC22D4 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
nsv518432 CNV loss 19592680
nsv527050 CNV loss 19592680
nsv527107 CNV loss 19592680
nsv831071 CNV loss 17160897
nsv951385 CNV deletion 24416366

Variation tolerance for TSC22D4 Gene

Residual Variation Intolerance Score: 62.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.41; 42.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSC22D4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSC22D4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSC22D4 Gene

Disorders for TSC22D4 Gene

Additional Disease Information for TSC22D4

No disorders were found for TSC22D4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TSC22D4 Gene

Publications for TSC22D4 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  2. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4
  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. (PMID: 10488076) Kester HA … van der Burg B (The Journal of biological chemistry 1999) 3 4
  4. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for TSC22D4 Gene

Sources for TSC22D4 Gene