Gene Gene information from NCBI Gene database.
Entrez ID 8848
Gene name TSC22 domain family member 1
Gene symbol TSC22D1
Synonyms (NCBI Gene)
HUCEP-2Ptg-2TGFB1I4TSC22
Chromosome 13
Chromosome location 13q14.11
Summary 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. Th
miRNA miRNA information provided by mirtarbase database.
313
miRTarBase ID miRNA Experiments Reference
MIRT048416 hsa-miR-100-5p CLASH 23622248
MIRT486481 hsa-miR-6758-5p PAR-CLIP 23592263
MIRT486482 hsa-miR-6856-5p PAR-CLIP 23592263
MIRT486480 hsa-miR-28-5p PAR-CLIP 23592263
MIRT486479 hsa-miR-3139 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0003713 Function Transcription coactivator activity IMP 15881652
GO:0005515 Function Protein binding IPI 15881652, 18325344, 21448135, 21791611, 25416956, 31515488, 32296183, 32814053, 34681573
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 34681573
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607715 16826 ENSG00000102804
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15714
Protein name TSC22 domain family protein 1 (Cerebral protein 2) (HUCEP-2) (Regulatory protein TSC-22) (TGFB-stimulated clone 22 homolog) (Transforming growth factor beta-1-induced transcript 4 protein)
Protein function Transcriptional repressor (PubMed:10488076). Acts on the C-type natriuretic peptide (CNP) promoter (PubMed:9022669). Acts to promote CASP3-mediated apoptosis (PubMed:18325344). Positively regulates TGF-beta signaling by interacting with SMAD7 wh
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01166 TSC22 988 1044 TSC-22/dip/bun family Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in adult tissues (PubMed:26752201, PubMed:8651929). Expressed in the postmitotic epithelial compartment at the top of intestinal mucosal villi (PubMed:12468551). {ECO:0000269|PubMed:12468551, ECO:0000269|PubMed:2
Sequence
MHQPPESTAAAAAAADISARKMAHPAMFPRRGSGSGSASALNAAGTGVGSNATSSEDFPP
PSLLQPPPPAASSTSGPQPPPPQSLNLLSQAQLQAQPLAPGGTQMKKKSGFQITSVTPAQ
ISASISSNNSIAEDTESYDDLDESHTEDLSSSEILDVSLSRATDLGEPERSSSEETLNNF
QEAETPGAVSPNQPHLPQPHLPHLPQQNVVINGNAHPHHLHHHHQIHHGHHLQHGHHHPS
HVAVASASITGGPPSSPVSRKLSTTGSSDSITPVAPTSAVSSSGSPASVMTNMRAPSTTG
GIGINSVTGTSTVNNVNITAVGSFNPNVTSSMLGNVNISTSNIPSAAGVSVGPGVTSGVN
VNILSGMGNGTISSSAAVSSVPNAAAGMTGGSVSSQQQQPTVNTSRFRVVKLDSSSEPFK
KGRWTCTEFYEKENAVPATEGVLINKVVETVKQNPIEVTSERESTSGSSVSSSVSTLSHY
TESVGSGEMGAPTVVVQQQQQQQQQQQQQPALQGVTLQQMDFGSTGPQSIPAVSIPQSIS
QSQISQVQLQSQELSYQQKQGLQPVPLQATMSAATGIQPSPVNVVGVTSALGQQPSISSL
AQPQLPYSQAAPPVQTPLPGAPPPQQLQYGQQQPMVSTQMAPGHVKSVTQNPASEYVQQQ
PILQTAMSSGQPSSAGVGAGTTVIPVAQPQGIQLPVQPTAVPAQPAGASVQPVGQAPAAV
SAVPTGSQIANIGQQANIPTAVQQPSTQVPPSVIQQGAPPSSQVVPPAQTGIIHQGVQTS
APSLPQQLVIASQSSLLTVPPQPQGVEPVAQGIVSQQLPAVSSLPSASSISVTSQVSSTG
PSGMPSAPTNLVPPQNIAQTPATQNGNLVQSVSQPPLIATNTNLPLAQQIPLSSTQFSAQ
SLAQAIGSQIEDARRAAEPSLVGLPQTISGDSGGMSAVSDGSSSSLAASASLFPLKVLPL
TTPLVDGEDESSSGASVVAIDNKIEQAMDLVKSHLMYAVREEVEVLKEQIKELIEKNSQL
EQENNLLKTLASPEQLAQFQAQLQ
TGSPPATTQPQGTTQPPAQPASQGSGPTA
Sequence length 1073
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thyroid cancer, nonmedullary, 1 Uncertain significance rs200289010 RCV005928880
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 29935546
Brain Neoplasms Inhibit 12501169
Breast Neoplasms Associate 9195978
Diabetes Mellitus Type 2 Associate 30649532
HIV Infections Associate 30649532
Inflammation Associate 21448135, 30649532
Leukemia Myeloid Acute Associate 25605239, 37237254
Lung Neoplasms Associate 27171439
Melanosis Associate 35840442
Neoplasms Inhibit 12501169, 25605239