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Aliases for TSC22D1 Gene

Aliases for TSC22D1 Gene

  • TSC22 Domain Family Member 1 2 3 5
  • Transforming Growth Factor Beta-1-Induced Transcript 4 Protein 3 4
  • TGFB-Stimulated Clone 22 Homolog 3 4
  • Regulatory Protein TSC-22 3 4
  • Cerebral Protein 2 3 4
  • TGFB1I4 3 4
  • TSC22 3 4
  • Transforming Growth Factor Beta-Stimulated Protein TSC-22 3
  • Transforming Growth Factor Beta 1 Induced Transcript 4 2
  • Transcriptional Regulator TSC-22 3
  • TSC22 Domain Family, Member 1 2
  • TSC22 Domain Family Protein 1 3
  • TGFbeta-Stimulated Clone 22 3
  • KIAA1994 4
  • Ptg-2 3

External Ids for TSC22D1 Gene

Previous HGNC Symbols for TSC22D1 Gene

  • TGFB1I4

Previous GeneCards Identifiers for TSC22D1 Gene

  • GC13M043906
  • GC13M045007
  • GC13M025809

Summaries for TSC22D1 Gene

Entrez Gene Summary for TSC22D1 Gene

  • This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

GeneCards Summary for TSC22D1 Gene

TSC22D1 (TSC22 Domain Family Member 1) is a Protein Coding gene. Diseases associated with TSC22D1 include Salivary Gland Cancer and Brain Sarcoma. Among its related pathways are Ectoderm Differentiation and Development_TGF-beta receptor signaling. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity. An important paralog of this gene is TSC22D2.

UniProtKB/Swiss-Prot for TSC22D1 Gene

  • Transcriptional repressor. Acts on the C-type natriuretic peptide (CNP) promoter.

Gene Wiki entry for TSC22D1 Gene

Additional gene information for TSC22D1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSC22D1 Gene

Genomics for TSC22D1 Gene

GeneHancer (GH) Regulatory Elements for TSC22D1 Gene

Promoters and enhancers for TSC22D1 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
GH13I044430 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 550.1 +142.6 142621 7.5 PKNOX1 SMAD1 ATF1 ARID4B SIN3A DMAP1 ZNF2 BRCA1 ZNF48 YY1 PIR39989 TSC22D1 SERP2 ENSG00000225727 ENSG00000280357
GH13I044571 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.4 1446 8.2 HDGF ZFP64 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B IRF4 YY1 ZNF766 TSC22D1 TSC22D1-AS1 GC13P044576 COG3 SMARCE1P5 ENSG00000225727
GH13I044474 Promoter/Enhancer 1 EPDnew Ensembl 560.7 +102.8 102846 0.2 JUND SCRT2 ELF1 FOS ZFX YY1 TSC22D1 ENSG00000225727 TSC22D1-AS1
GH13I044446 Promoter 0.5 EPDnew 550.1 +130.9 130921 0.1 TSC22D1 ENSG00000225727 TSC22D1-AS1
GH13I044917 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.8 -341.3 -341253 2.8 FEZF1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SSRP1 ZNF610 TRE-TTC2-1 GPALPP1 RN7SL49P NUFIP1 TSC22D1 RCN1P2 ERICH6B TPT1-AS1 KCTD4 PIR55542
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TSC22D1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TSC22D1 gene promoter:

Genomic Locations for TSC22D1 Gene

Genomic Locations for TSC22D1 Gene
chr13:44,432,143-44,577,147
(GRCh38/hg38)
Size:
145,005 bases
Orientation:
Minus strand
chr13:45,007,655-45,151,283
(GRCh37/hg19)

Genomic View for TSC22D1 Gene

Genes around TSC22D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSC22D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSC22D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSC22D1 Gene

Proteins for TSC22D1 Gene

  • Protein details for TSC22D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15714-T22D1_HUMAN
    Recommended name:
    TSC22 domain family protein 1
    Protein Accession:
    Q15714
    Secondary Accessions:
    • B3KRL7
    • B9EGI0
    • O00666
    • Q6AHX5
    • Q6IBU1
    • Q8NCN1
    • Q96JS5

    Protein attributes for TSC22D1 Gene

    Size:
    1073 amino acids
    Molecular mass:
    109677 Da
    Quaternary structure:
    • Homodimer or heterodimer. Can form a heterodimer with TSC22D4.
    SequenceCaution:
    • Sequence=BAC02703.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TSC22D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSC22D1 Gene

Post-translational modifications for TSC22D1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TSC22D1 Gene

Domains & Families for TSC22D1 Gene

Gene Families for TSC22D1 Gene

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

Protein Domains for TSC22D1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15714

UniProtKB/Swiss-Prot:

T22D1_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 TSC22D1: view

Function for TSC22D1 Gene

Molecular function for TSC22D1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor. Acts on the C-type natriuretic peptide (CNP) promoter.
UniProtKB/Swiss-Prot Induction:
In aortic endothelial cells, induced by cytokines, including TGFB1.

Phenotypes From GWAS Catalog for TSC22D1 Gene

Gene Ontology (GO) - Molecular Function for TSC22D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 DNA binding transcription factor activity IEA --
GO:0005515 protein binding IPI 18325344
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with TSC22D1: view
genes like me logo Genes that share phenotypes with TSC22D1: view

Animal Models for TSC22D1 Gene

MGI Knock Outs for TSC22D1:

Animal Model Products

  • Taconic Biosciences Mouse Models for TSC22D1

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TSC22D1 Gene

Localization for TSC22D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSC22D1 Gene

Cytoplasm. Nucleus.

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 TSC22D1 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TSC22D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with TSC22D1: view

Pathways & Interactions for TSC22D1 Gene

genes like me logo Genes that share pathways with TSC22D1: view

Pathways by source for TSC22D1 Gene

1 BioSystems pathway for TSC22D1 Gene
1 GeneGo (Thomson Reuters) pathway for TSC22D1 Gene

Gene Ontology (GO) - Biological Process for TSC22D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS 9022669
genes like me logo Genes that share ontologies with TSC22D1: view

No data available for SIGNOR curated interactions for TSC22D1 Gene

Drugs & Compounds for TSC22D1 Gene

(2) Drugs for TSC22D1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for TSC22D1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TSC22D1: view

Transcripts for TSC22D1 Gene

Unigene Clusters for TSC22D1 Gene

TSC22 domain family, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSC22D1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d · 11e · 11f ^ 12
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - - -
SP8:
SP9: -
SP10:
SP11: - - - - - - - - - - - - - - - - - - - - - -
SP12: -

Relevant External Links for TSC22D1 Gene

GeneLoc Exon Structure for
TSC22D1
ECgene alternative splicing isoforms for
TSC22D1

Expression for TSC22D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TSC22D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TSC22D1 Gene

This gene is overexpressed in Brain (11.8) and Uterus (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TSC22D1 Gene



Protein tissue co-expression partners for TSC22D1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TSC22D1 Gene:

TSC22D1

SOURCE GeneReport for Unigene cluster for TSC22D1 Gene:

Hs.436383

mRNA Expression by UniProt/SwissProt for TSC22D1 Gene:

Q15714-T22D1_HUMAN
Tissue specificity: Widely expressed in fetal and adult tissues.

Evidence on tissue expression from TISSUES for TSC22D1 Gene

  • Nervous system(5)
  • Lung(4.9)
  • Intestine(4.8)
  • Kidney(4.7)
  • Pancreas(4.2)
  • Eye(3.4)
  • Stomach(3.3)
  • Skin(3.1)
  • Heart(2.8)
  • Gall bladder(2.2)
  • Adrenal gland(2)
  • Muscle(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with TSC22D1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TSC22D1 Gene

Orthologs for TSC22D1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSC22D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSC22D1 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia TSC22D1 33 34
  • 89.64 (n)
mouse
(Mus musculus)
Mammalia Tsc22d1 33 16 34
  • 87.36 (n)
rat
(Rattus norvegicus)
Mammalia Tsc22d1 33
  • 87.24 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 84 (a)
OneToMany
TSC22D1 34
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TSC22D1 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TSC22D1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves TSC22D1 33 34
  • 73.33 (n)
lizard
(Anolis carolinensis)
Reptilia TSC22D1 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tsc22d1 33
  • 64.56 (n)
Str.1572 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8414 33
zebrafish
(Danio rerio)
Actinopterygii TSC22D1 (1 of 2) 34
  • 64 (a)
OneToMany
tsc22d1 34
  • 42 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9702 33
fruit fly
(Drosophila melanogaster)
Insecta bun 34
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C30G4.7 34
  • 37 (a)
ManyToMany
T18D3.7 34
  • 29 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 22 (a)
ManyToMany
Species where no ortholog for TSC22D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for TSC22D1 Gene

ENSEMBL:
Gene Tree for TSC22D1 (if available)
TreeFam:
Gene Tree for TSC22D1 (if available)

Paralogs for TSC22D1 Gene

Paralogs for TSC22D1 Gene

(3) SIMAP similar genes for TSC22D1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TSC22D1: view

Variants for TSC22D1 Gene

Sequence variations from dbSNP and Humsavar for TSC22D1 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000050699 -- 44,515,828(-) G/A genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000073894 -- 44,576,964(-) A/C upstream_transcript_variant
rs1000078305 -- 44,483,705(-) C/T genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000078660 -- 44,518,775(-) T/C genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000082332 -- 44,559,366(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TSC22D1 Gene

Variant ID Type Subtype PubMed ID
esv23675 CNV loss 19812545
esv2661792 CNV deletion 23128226
esv2669361 CNV deletion 23128226
esv2677067 CNV deletion 23128226
esv2747332 CNV deletion 23290073
esv3309377 CNV mobile element insertion 20981092
esv3433809 CNV insertion 20981092
esv3550396 CNV deletion 23714750
esv3631934 CNV loss 21293372
esv3631936 CNV loss 21293372
esv3631937 CNV loss 21293372
nsv1124673 CNV duplication 24896259
nsv561575 CNV loss 21841781
nsv958104 CNV deletion 24416366

Variation tolerance for TSC22D1 Gene

Residual Variation Intolerance Score: 3.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.22; 62.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSC22D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSC22D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSC22D1 Gene

Disorders for TSC22D1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TSC22D1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
salivary gland cancer
  • malignant neoplasm of major salivary gland
brain sarcoma
  • sarcoma of the brain
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TSC22D1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TSC22D1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TSC22D1 Gene

Publications for TSC22D1 Gene

  1. Cloning of the human homologue of the TGF beta-stimulated clone 22 gene. (PMID: 8651929) Jay P … Berta P (Biochemical and biophysical research communications 1996) 2 3 4 22 58
  2. Molecular cloning and characterization of a transcription factor for the C-type natriuretic peptide gene promoter. (PMID: 9022669) Ohta S … Nagata K (European journal of biochemistry 1996) 2 3 4 22 58
  3. TGF-beta1 and TSC-22 gene polymorphisms and susceptibility to microvascular complications in type 2 diabetes. (PMID: 17622752) Buraczynska M … Ksiazek A (Nephron. Physiology 2007) 3 22 44 58
  4. Expression and cellular localization of TSC-22 in normal salivary glands and salivary gland tumors: implications for tumor cell differentiation. (PMID: 18288391) Doi Y … Imai Y (Oncology reports 2008) 3 22 58
  5. Interaction between fortilin and transforming growth factor-beta stimulated clone-22 (TSC-22) prevents apoptosis via the destabilization of TSC-22. (PMID: 18325344) Lee JH … Chun T (FEBS letters 2008) 3 22 58

Products for TSC22D1 Gene

Sources for TSC22D1 Gene

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