Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57215
Gene name Gene Name - the full gene name approved by the HGNC.
THAP domain containing 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
THAP11
Synonyms (NCBI Gene) Gene synonyms aliases
CTG-B43a, CTG-B45d, HRIHFB2206, MAHCL, RONIN, SCA51
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MAHCL, SCA51
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 19008924
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 19008924
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609119 23194 ENSG00000168286
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation MENTAL RETARDATION, X-LINKED 3 rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Associations from Text Mining
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