Gene Gene information from NCBI Gene database.
Entrez ID 57215
Gene name THAP domain containing 11
Gene symbol THAP11
Synonyms (NCBI Gene)
CTG-B43aCTG-B45dHRIHFB2206MAHCLRONINSCA51
Chromosome 16
Chromosome location 16q22.1
Summary The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
84
miRTarBase ID miRNA Experiments Reference
MIRT1422321 hsa-miR-1226 CLIP-seq
MIRT1422322 hsa-miR-1278 CLIP-seq
MIRT1422323 hsa-miR-1343 CLIP-seq
MIRT1422324 hsa-miR-138 CLIP-seq
MIRT1422325 hsa-miR-1825 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 19008924
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609119 23194 ENSG00000168286
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96EK4
Protein name THAP domain-containing protein 11
Protein function Transcription factor, which has both transcriptional activation and repression activities (PubMed:31905202). Also modulates chromatin accessibility (PubMed:38361031). In complex with HCFC1 and ZNF143, regulates the expression of several genes, i
PDB 2LAU , 5AJS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05485 THAP 6 138 THAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in skin fibroblasts. {ECO:0000269|PubMed:37148549}.
Sequence
MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRL
CSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAARRRQQQQQQQQQQQQQQQQQ
QQQQQQQQQQQQSSPSAS
TAQTAQLQPNLVSASAAVLLTLQATVDSSQAPGSVQPAPITP
TGEDVKPIDLTVQVEFAAAEGAAAAAAASELQAATAGLEAAECPMGPQLVVVGEEGFPDT
GSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKD
RLLAMAVIRKKHGM
Sequence length 314
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cobalamin transport and metabolism  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
21
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Disorders of Intracellular Cobalamin Metabolism Likely pathogenic rs188675529 RCV002522728
Methylmalonic acidemia with homocystinuria, type cblX Likely pathogenic rs188675529 RCV000498990
Methylmalonic aciduria and homocystinuria, cb1L type Likely pathogenic rs188675529 RCV004719023
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spinocerebellar ataxia 51 Uncertain significance rs1314632393 RCV005869895
THAP11-related disorder Benign; Likely benign rs79492531, rs758758376, rs28434205, rs750882791, rs377516180, rs28635005, rs746671619, rs749053848, rs955056927 RCV003923734
RCV003923631
RCV003916329
RCV003933381
RCV004758209
RCV003958635
RCV003913795
RCV003923726
RCV003923497
RCV003916318
RCV003943567
RCV003916673
RCV003946656
RCV003978183
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 22673507
Colorectal Neoplasms Associate 22371484
Hemophilia A Associate 30836974
Methylmalonic acidemia with homocystinuria Associate 34655177
Methylmalonic Aciduria and Homocystinuria CblF Type Associate 31905202
Neoplasm Metastasis Stimulate 22371484
Neoplasms Inhibit 32908912
Stomach Neoplasms Inhibit 32908912