Gene Gene information from NCBI Gene database.
Entrez ID 90326
Gene name THAP domain containing 3
Gene symbol THAP3
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p36.31
miRNA miRNA information provided by mirtarbase database.
334
miRTarBase ID miRNA Experiments Reference
MIRT017413 hsa-miR-335-5p Microarray 18185580
MIRT029166 hsa-miR-26b-5p Microarray 19088304
MIRT045903 hsa-miR-125b-5p CLASH 23622248
MIRT1422435 hsa-miR-1184 CLIP-seq
MIRT1422436 hsa-miR-1224-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 20200153, 32296183, 32814053, 33961781, 34819669
GO:0008270 Function Zinc ion binding IEA
GO:0045944 Process Positive regulation of transcription by RNA polymerase II IDA 20200153
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612532 20855 ENSG00000041988
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WTV1
Protein name THAP domain-containing protein 3
Protein function Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05485 THAP 5 82 THAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle and placenta. Weaker expression in brain, kidney and liver. {ECO:0000269|PubMed:20200153}.
Sequence
MPKSCAARQCCNRYSSRRKQLTFHRFPFSRPELLKEWVLNIGRGNFKPKQHTVICSEHFR
PECFSAFGNRKNLKHNAVPTVF
AFQDPTQQVRENTDPASERGNASSSQKEKVLPEAGAGE
DSPGRNMDTALEELQLPPNAEGHVKQVSPRRPQATEAVGRPTGPAGLRRTPNKQPSDHSY
ALLDLDSLKKKLFLTLKENEKLRKRLQAQRLVMRRMSSRLRACKGHQGLQARLGPEQQS
Sequence length 239
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
POLYCYSTIC OVARY SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
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
Oligodendroglioma Oligodendroglioma Pubtator 29890994 Associate
★☆☆☆☆
Found in Text Mining only
Polycystic Ovary Syndrome Polycystic Ovary Syndrome CTD_human_DG 21411543
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms Prostatic neoplasm Pubtator 32800727 Associate
★☆☆☆☆
Found in Text Mining only
Sclerocystic Ovaries Sclerocystic Ovaries CTD_human_DG 21411543
★☆☆☆☆
Found in Text Mining only