Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TSC22D3 (TSC22 domain family member 3)

Identity

Alias_namesDSIPI
delta sleep inducing peptide, immunoreactor
TSC22 domain family, member 3
Alias_symbol (synonym)DIP
GILZ
TSC-22R
hDIP
Other alias
HGNC (Hugo) TSC22D3
LocusID (NCBI) 1831
Atlas_Id 51354
Location Xq22.3  [Link to chromosome band Xq22]
Location_base_pair Starts at 107713222 and ends at 107716481 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CXCR4 (2q22.1) / TSC22D3 (Xq22.3)PTRF (17q21.2) / TSC22D3 (Xq22.3)TSC22D3 (Xq22.3) / AP3M1 (10q22.2)
TSC22D3 (Xq22.3) / GRIK5 (19q13.2)TSC22D3 (Xq22.3) / KIAA1324 (1p13.3)TSC22D3 (Xq22.3) / RHOBTB2 (8p21.3)
TSC22D3 (Xq22.3) / TM9SF3 (10q24.1)TSC22D3 (Xq22.3) / TSC22D3 (Xq22.3)TSC22D3 Xq22.3 / AP3M1 10q22.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TSC22D3   3051
Cards
Entrez_Gene (NCBI)TSC22D3  1831  TSC22 domain family member 3
AliasesDIP; DSIPI; GILZ; TSC-22R
GeneCards (Weizmann)TSC22D3
Ensembl hg19 (Hinxton)ENSG00000157514 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157514 [Gene_View]  chrX:107713222-107716481 [Contig_View]  TSC22D3 [Vega]
ICGC DataPortalENSG00000157514
TCGA cBioPortalTSC22D3
AceView (NCBI)TSC22D3
Genatlas (Paris)TSC22D3
WikiGenes1831
SOURCE (Princeton)TSC22D3
Genetics Home Reference (NIH)TSC22D3
Genomic and cartography
GoldenPath hg38 (UCSC)TSC22D3  -     chrX:107713222-107716481 -  Xq22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TSC22D3  -     Xq22.3   [Description]    (hg19-Feb_2009)
EnsemblTSC22D3 - Xq22.3 [CytoView hg19]  TSC22D3 - Xq22.3 [CytoView hg38]
Mapping of homologs : NCBITSC22D3 [Mapview hg19]  TSC22D3 [Mapview hg38]
OMIM300506   
Gene and transcription
Genbank (Entrez)AB025432 AF153603 AF183393 AF228339 AK092645
RefSeq transcript (Entrez)NM_001015881 NM_001318468 NM_001318470 NM_004089 NM_198057
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TSC22D3
Cluster EST : UnigeneHs.522074 [ NCBI ]
CGAP (NCI)Hs.522074
Alternative Splicing GalleryENSG00000157514
Gene ExpressionTSC22D3 [ NCBI-GEO ]   TSC22D3 [ EBI - ARRAY_EXPRESS ]   TSC22D3 [ SEEK ]   TSC22D3 [ MEM ]
Gene Expression Viewer (FireBrowse)TSC22D3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1831
GTEX Portal (Tissue expression)TSC22D3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99576   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99576  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99576
Splice isoforms : SwissVarQ99576
PhosPhoSitePlusQ99576
Domaine pattern : Prosite (Expaxy)TSC22 (PS01289)   
Domains : Interpro (EBI)TSC-22_Dip_Bun   
Domain families : Pfam (Sanger)TSC22 (PF01166)   
Domain families : Pfam (NCBI)pfam01166   
Domain structure : Prodom (Prabi Lyon)TSC-22_Dip_Bun (PD007152)   
Conserved Domain (NCBI)TSC22D3
DMDM Disease mutations1831
Blocks (Seattle)TSC22D3
SuperfamilyQ99576
Human Protein AtlasENSG00000157514
Peptide AtlasQ99576
HPRD04266
IPIIPI00016152   IPI00168008   IPI00788225   IPI00963831   IPI00549492   IPI00644685   IPI00966448   IPI00965551   IPI00966029   IPI00966198   IPI00964861   IPI00965783   IPI00965189   IPI00965529   IPI00966359   
Protein Interaction databases
DIP (DOE-UCLA)Q99576
IntAct (EBI)Q99576
FunCoupENSG00000157514
BioGRIDTSC22D3
STRING (EMBL)TSC22D3
ZODIACTSC22D3
Ontologies - Pathways
QuickGOQ99576
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  transcription factor activity, sequence-specific DNA binding  nucleus  cytoplasm  cytosol  regulation of transcription, DNA-templated  response to osmotic stress  ion transmembrane transport  MRF binding  negative regulation of skeletal muscle tissue development  negative regulation of activation-induced cell death of T cells  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  transcription factor activity, sequence-specific DNA binding  nucleus  cytoplasm  cytosol  regulation of transcription, DNA-templated  response to osmotic stress  ion transmembrane transport  MRF binding  negative regulation of skeletal muscle tissue development  negative regulation of activation-induced cell death of T cells  
NDEx NetworkTSC22D3
Atlas of Cancer Signalling NetworkTSC22D3
Wikipedia pathwaysTSC22D3
Orthology - Evolution
OrthoDB1831
GeneTree (enSembl)ENSG00000157514
Phylogenetic Trees/Animal Genes : TreeFamTSC22D3
HOVERGENQ99576
HOGENOMQ99576
Homologs : HomoloGeneTSC22D3
Homology/Alignments : Family Browser (UCSC)TSC22D3
Gene fusions - Rearrangements
Fusion : MitelmanTSC22D3/AP3M1 [Xq22.3/10q22.2]  
Fusion: TCGATSC22D3 Xq22.3 AP3M1 10q22.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTSC22D3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TSC22D3
dbVarTSC22D3
ClinVarTSC22D3
1000_GenomesTSC22D3 
Exome Variant ServerTSC22D3
ExAC (Exome Aggregation Consortium)TSC22D3 (select the gene name)
Genetic variants : HAPMAP1831
Genomic Variants (DGV)TSC22D3 [DGVbeta]
DECIPHERTSC22D3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTSC22D3 
Mutations
ICGC Data PortalTSC22D3 
TCGA Data PortalTSC22D3 
Broad Tumor PortalTSC22D3
OASIS PortalTSC22D3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTSC22D3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTSC22D3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TSC22D3
DgiDB (Drug Gene Interaction Database)TSC22D3
DoCM (Curated mutations)TSC22D3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TSC22D3 (select a term)
intoGenTSC22D3
Cancer3DTSC22D3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300506   
Orphanet
MedgenTSC22D3
Genetic Testing Registry TSC22D3
NextProtQ99576 [Medical]
TSGene1831
GENETestsTSC22D3
Target ValidationTSC22D3
Huge Navigator TSC22D3 [HugePedia]
snp3D : Map Gene to Disease1831
BioCentury BCIQTSC22D3
ClinGenTSC22D3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1831
Chemical/Pharm GKB GenePA27504
Clinical trialTSC22D3
Miscellaneous
canSAR (ICR)TSC22D3 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTSC22D3
EVEXTSC22D3
GoPubMedTSC22D3
iHOPTSC22D3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:17:49 CEST 2017

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