Gene Gene information from NCBI Gene database.
Entrez ID 9819
Gene name TSC22 domain family member 2
Gene symbol TSC22D2
Synonyms (NCBI Gene)
TILZ4aTILZ4bTILZ4c
Chromosome 3
Chromosome location 3q25.1
miRNA miRNA information provided by mirtarbase database.
868
miRTarBase ID miRNA Experiments Reference
MIRT019779 hsa-miR-375 Microarray 20215506
MIRT027596 hsa-miR-98-5p Microarray 19088304
MIRT029295 hsa-miR-26b-5p Microarray 19088304
MIRT046928 hsa-miR-221-3p CLASH 23622248
MIRT044409 hsa-miR-320a CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22510880, 27337956, 27573352
GO:0006357 Process Regulation of transcription by RNA polymerase II IEA
GO:0006970 Process Response to osmotic stress IEA
GO:0045786 Process Negative regulation of cell cycle IMP 27573352
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617724 29095 ENSG00000196428
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75157
Protein name TSC22 domain family protein 2 (TSC22-related-inducible leucine zipper protein 4)
Protein function Reduces the level of nuclear PKM isoform M2 which results in repression of cyclin CCND1 transcription and reduced cell growth.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01166 TSC22 694 750 TSC-22/dip/bun family Coiled-coil
Sequence
MSKMPAKKKSCFQITSVTTAQVATSITEDTESLDDPDESRTEDVSSEIFDVSRATDYGPE
EVCERSSSEETLNNVGDAETPGTVSPNLLLDGQLAAAAAAPANGGGVVSARSVSGALAST
LAAAATSAPAPGAPGGPQLAGSSAGPVTAAPSQPPTTCSSRFRVIKLDHGSGEPYRRGRW
TCMEYYERDSDSSVLTRSGDCIRHSSTFDQTAERDSGLGATGGSVVVVVASMQGAHGPES
GTDSSLTAVSQLPPSEKMSQPTPAQPQSFSVGQPQPPPPPVGGAVAQSSAPLPPFPGAAT
GPQPMMAAAQPSQPQGAGPGGQTLPPTNVTLAQPAMSLPPQPGPAVGAPAAQQPQQFAYP
QPQIPPGHLLPVQPSGQSEYLQQHVAGLQPPSPAQPSSTGAAASPATAATLPVGTGQNAS
SVGAQLMGASSQPSEAMAPRTGPAQGGQVAPCQPTGVPPATVGGVVQPCLGPAGAGQPQS
VPPPQMGGSGPLSAVPGGPHAVVPGVPNVPAAVPAPSVPSVSTTSVTMPNVPAPLAQSQQ
LSSHTPVSRSSSIIQHVGLPLAPGTHSAPTSLPQSDLSQFQTQTQPLVGQVDDTRRKSEP
LPQPPLSLIAENKPVVKPPVADSLANPLQLTPMNSLATSVFSIAIPVDGDEDRNPSTAFY
QAFHLNTLKESKSLWDSASGGGVVAIDNKIEQAMDLVKSHLMYAVREEVEVLKEQIKELV
ERNSLLERENALLKSLSSNDQLSQLPTQQA
NPGSTSQQQAVIAQPPQPTQPPQQPNVSSA
Sequence length 780
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Hepatocellular carcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Keratoconus Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
MOYAMOYA DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Carcinoma Colorectal Cancer BEFREE 27573352
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 27573352
★☆☆☆☆
Found in Text Mining only
Moyamoya Disease Moyamoya Disease GWASCAT_DG 29273593
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Moyamoya disease 1 Moyamoya disease GWASCAT_DG 29273593
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 36894917 Associate
★☆☆☆☆
Found in Text Mining only
Polycystic Ovary Syndrome Polycystic ovary syndrome Pubtator 36750132 Associate
★☆☆☆☆
Found in Text Mining only