Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8848
Gene name Gene Name - the full gene name approved by the HGNC.
TSC22 domain family member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TSC22D1
Synonyms (NCBI Gene) Gene synonyms aliases
HUCEP-2, Ptg-2, TGFB1I4, TSC22
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q14.11
Summary Summary of gene provided in NCBI Entrez 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. Th
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18325344, 25416956, 31515488
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0006357 Process Regulation of transcription by RNA polymerase II IEA
GO:0006366 Process Transcription by RNA polymerase II TAS 9022669
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607715 16826 ENSG00000102804
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Carcinoma Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 16316942
Unknown
Disease term Disease name Evidence References Source
Psoriasis Psoriasis GWAS
Psoriasis vulgaris Psoriasis vulgaris GWAS
Alzheimer disease Alzheimer disease GWAS
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
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