Aliases for TSC22D2 Gene

Aliases for TSC22D2 Gene

  • TSC22 Domain Family Member 2 2 3 5
  • TSC22-Related-Inducible Leucine Zipper Protein 4 3 4
  • TSC22 Domain Family Protein 2 3 4
  • TSC22 Domain Family, Member 2 2
  • TSC22 Domain Family 2 3
  • KIAA0669 4
  • TILZ4a 3
  • TILZ4b 3
  • TILZ4c 3
  • TILZ4 4

External Ids for TSC22D2 Gene

Previous GeneCards Identifiers for TSC22D2 Gene

  • GC03P151609
  • GC03P150126
  • GC03P147500

Summaries for TSC22D2 Gene

GeneCards Summary for TSC22D2 Gene

TSC22D2 (TSC22 Domain Family Member 2) is a Protein Coding gene. Diseases associated with TSC22D2 include Keratomalacia. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is TSC22D1.

Additional gene information for TSC22D2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSC22D2 Gene

Genomics for TSC22D2 Gene

GeneHancer (GH) Regulatory Elements for TSC22D2 Gene

Promoters and enhancers for TSC22D2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSC22D2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TSC22D2

Top Transcription factor binding sites by QIAGEN in the TSC22D2 gene promoter:
  • AREB6
  • Arnt
  • GR
  • GR-alpha
  • GR-beta
  • STAT5B
  • YY1
  • ZID

Genomic Locations for TSC22D2 Gene

Genomic Locations for TSC22D2 Gene
chr3:150,408,335-150,466,431
(GRCh38/hg38)
Size:
58,097 bases
Orientation:
Plus strand
chr3:150,126,122-150,184,218
(GRCh37/hg19)
Size:
58,097 bases
Orientation:
Plus strand

Genomic View for TSC22D2 Gene

Genes around TSC22D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSC22D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSC22D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSC22D2 Gene

Proteins for TSC22D2 Gene

  • Protein details for TSC22D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75157-T22D2_HUMAN
    Recommended name:
    TSC22 domain family protein 2
    Protein Accession:
    O75157
    Secondary Accessions:
    • D3DNI5
    • Q6PI50
    • Q9H2Z6
    • Q9H2Z7
    • Q9H2Z8

    Protein attributes for TSC22D2 Gene

    Size:
    780 amino acids
    Molecular mass:
    79228 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA31644.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TSC22D2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSC22D2 Gene

Post-translational modifications for TSC22D2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TSC22D2 Gene

Antibody Products

  • Abcam antibodies for TSC22D2

No data available for DME Specific Peptides for TSC22D2 Gene

Domains & Families for TSC22D2 Gene

Gene Families for TSC22D2 Gene

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

Protein Domains for TSC22D2 Gene

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

Suggested Antigen Peptide Sequences for TSC22D2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57127, highly similar to TSC22 domain family protein 2 (B4DMB2_HUMAN)
  • cDNA FLJ51900, highly similar to TSC22 domain family protein 2 (B4DN36_HUMAN)
  • TSC22-related-inducible leucine zipper protein 4 (T22D2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75157

UniProtKB/Swiss-Prot:

T22D2_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 TSC22D2: view

Function for TSC22D2 Gene

Phenotypes From GWAS Catalog for TSC22D2 Gene

Gene Ontology (GO) - Molecular Function for TSC22D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003700 DNA-binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with TSC22D2: view
genes like me logo Genes that share phenotypes with TSC22D2: view

miRNA for TSC22D2 Gene

miRTarBase miRNAs that target TSC22D2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TSC22D2 Gene

Localization for TSC22D2 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 TSC22D2 gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TSC22D2 Gene

Pathways & Interactions for TSC22D2 Gene

PathCards logo

SuperPathways for TSC22D2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TSC22D2 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 IEA --
genes like me logo Genes that share ontologies with TSC22D2: view

No data available for Pathways by source and SIGNOR curated interactions for TSC22D2 Gene

Drugs & Compounds for TSC22D2 Gene

No Compound Related Data Available

Transcripts for TSC22D2 Gene

mRNA/cDNA for TSC22D2 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSC22D2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d
SP1: -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for TSC22D2 Gene

GeneLoc Exon Structure for
TSC22D2

Expression for TSC22D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TSC22D2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TSC22D2 Gene

This gene is overexpressed in Cervix (22.0) and Adrenal (14.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TSC22D2 Gene



Protein tissue co-expression partners for TSC22D2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TSC22D2

SOURCE GeneReport for Unigene cluster for TSC22D2 Gene:

Hs.722470

Evidence on tissue expression from TISSUES for TSC22D2 Gene

  • Nervous system(4.4)
  • Liver(4.2)
  • Intestine(3.2)
genes like me logo Genes that share expression patterns with TSC22D2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TSC22D2 Gene

Orthologs for TSC22D2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSC22D2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSC22D2 31 30
  • 99.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TSC22D2 31 30
  • 89.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TSC22D2 31 30
  • 88.69 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tsc22d2 30
  • 87.88 (n)
mouse
(Mus musculus)
Mammalia Tsc22d2 17 31 30
  • 87.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TSC22D2 31
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TSC22D2 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859827 30
  • 71.9 (n)
TSC22D2 31
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSC22D2 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tsc22d2 30
  • 62.04 (n)
Str.17767 30
zebrafish
(Danio rerio)
Actinopterygii tsc22d2 31
  • 42 (a)
OneToOne
kiaa0669 30
fruit fly
(Drosophila melanogaster)
Insecta bun 31
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C30G4.7 31
  • 40 (a)
ManyToMany
T18D3.7 31
  • 28 (a)
ManyToMany
Species where no ortholog for TSC22D2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • wheat (Triticum aestivum)

Evolution for TSC22D2 Gene

ENSEMBL:
Gene Tree for TSC22D2 (if available)
TreeFam:
Gene Tree for TSC22D2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TSC22D2: view image

Paralogs for TSC22D2 Gene

Paralogs for TSC22D2 Gene

(3) SIMAP similar genes for TSC22D2 Gene using alignment to 5 proteins:

  • T22D2_HUMAN
  • B4DN36_HUMAN
  • H0Y865_HUMAN
  • H0Y8E9_HUMAN
  • H7C4U3_HUMAN
genes like me logo Genes that share paralogs with TSC22D2: view

Variants for TSC22D2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TSC22D2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs879634 - p.Ala419Thr

Additional dbSNP identifiers (rs#s) for TSC22D2 Gene

Structural Variations from Database of Genomic Variants (DGV) for TSC22D2 Gene

Variant ID Type Subtype PubMed ID
dgv8649n54 CNV loss 21841781
esv29861 CNV loss 19812545
esv3598156 CNV loss 21293372
esv3598157 CNV gain 21293372
nsv1136775 CNV deletion 24896259
nsv822291 CNV gain 20364138
nsv829755 CNV loss 17160897

Variation tolerance for TSC22D2 Gene

Residual Variation Intolerance Score: 80.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.15; 69.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSC22D2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSC22D2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSC22D2 Gene

Disorders for TSC22D2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TSC22D2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
keratomalacia
  • night blindness
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TSC22D2

genes like me logo Genes that share disorders with TSC22D2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TSC22D2 Gene

Publications for TSC22D2 Gene

  1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  2. 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 54
  3. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for TSC22D2 Gene

Sources for TSC22D2 Gene