Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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]

Show/Hide all (84)

miRTarBase ID	miRNA	Experiments
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
MIRT1422326	hsa-miR-216b	CLIP-seq
MIRT1422327	hsa-miR-302f	CLIP-seq
MIRT1422328	hsa-miR-3153	CLIP-seq
MIRT1422329	hsa-miR-329	CLIP-seq
MIRT1422330	hsa-miR-34c-3p	CLIP-seq
MIRT1422331	hsa-miR-362-3p	CLIP-seq
MIRT1422332	hsa-miR-3941	CLIP-seq
MIRT1422333	hsa-miR-4436b-3p	CLIP-seq
MIRT1422334	hsa-miR-4646-5p	CLIP-seq
MIRT1422335	hsa-miR-4668-5p	CLIP-seq
MIRT1422336	hsa-miR-4685-5p	CLIP-seq
MIRT1422337	hsa-miR-4694-3p	CLIP-seq
MIRT1422338	hsa-miR-4733-3p	CLIP-seq
MIRT1422339	hsa-miR-4757-5p	CLIP-seq
MIRT1422340	hsa-miR-4797-3p	CLIP-seq
MIRT1422341	hsa-miR-505	CLIP-seq
MIRT1422342	hsa-miR-522	CLIP-seq
MIRT1422343	hsa-miR-597	CLIP-seq
MIRT1422344	hsa-miR-603	CLIP-seq
MIRT1422321	hsa-miR-1226	CLIP-seq
MIRT2126718	hsa-miR-1252	CLIP-seq
MIRT1422322	hsa-miR-1278	CLIP-seq
MIRT2126719	hsa-miR-1287	CLIP-seq
MIRT2126720	hsa-miR-1289	CLIP-seq
MIRT2126721	hsa-miR-2115	CLIP-seq
MIRT2126722	hsa-miR-214	CLIP-seq
MIRT1422326	hsa-miR-216b	CLIP-seq
MIRT2126723	hsa-miR-3065-5p	CLIP-seq
MIRT2126724	hsa-miR-3125	CLIP-seq
MIRT2126725	hsa-miR-3130-3p	CLIP-seq
MIRT2126726	hsa-miR-3192	CLIP-seq
MIRT1422329	hsa-miR-329	CLIP-seq
MIRT2126727	hsa-miR-338-3p	CLIP-seq
MIRT2126728	hsa-miR-345	CLIP-seq
MIRT1422330	hsa-miR-34c-3p	CLIP-seq
MIRT2126729	hsa-miR-3619-5p	CLIP-seq
MIRT1422331	hsa-miR-362-3p	CLIP-seq
MIRT2126730	hsa-miR-3916	CLIP-seq
MIRT1422332	hsa-miR-3941	CLIP-seq
MIRT2126731	hsa-miR-3976	CLIP-seq
MIRT2126732	hsa-miR-421	CLIP-seq
MIRT2126733	hsa-miR-4314	CLIP-seq
MIRT2126734	hsa-miR-4422	CLIP-seq
MIRT2126735	hsa-miR-4433	CLIP-seq
MIRT1422333	hsa-miR-4436b-3p	CLIP-seq
MIRT2126736	hsa-miR-4436b-5p	CLIP-seq
MIRT2126737	hsa-miR-4438	CLIP-seq
MIRT2126738	hsa-miR-4459	CLIP-seq
MIRT2126739	hsa-miR-4474-5p	CLIP-seq
MIRT2126740	hsa-miR-4521	CLIP-seq
MIRT2126741	hsa-miR-4530	CLIP-seq
MIRT2126742	hsa-miR-4533	CLIP-seq
MIRT1422334	hsa-miR-4646-5p	CLIP-seq
MIRT1422336	hsa-miR-4685-5p	CLIP-seq
MIRT2126743	hsa-miR-4690-5p	CLIP-seq
MIRT1422338	hsa-miR-4733-3p	CLIP-seq
MIRT2126744	hsa-miR-4747-5p	CLIP-seq
MIRT2126745	hsa-miR-4753-5p	CLIP-seq
MIRT2126746	hsa-miR-4768-3p	CLIP-seq
MIRT2126747	hsa-miR-513a-5p	CLIP-seq
MIRT2126748	hsa-miR-570	CLIP-seq
MIRT1422344	hsa-miR-603	CLIP-seq
MIRT2126749	hsa-miR-615-5p	CLIP-seq
MIRT2126750	hsa-miR-665	CLIP-seq
MIRT2126751	hsa-miR-761	CLIP-seq
MIRT2126752	hsa-miR-877	CLIP-seq
MIRT2126722	hsa-miR-214	CLIP-seq
MIRT2348527	hsa-miR-3121-3p	CLIP-seq
MIRT2126729	hsa-miR-3619-5p	CLIP-seq
MIRT1422334	hsa-miR-4646-5p	CLIP-seq
MIRT2126751	hsa-miR-761	CLIP-seq
MIRT1422334	hsa-miR-4646-5p	CLIP-seq
MIRT2126718	hsa-miR-1252	CLIP-seq
MIRT2461396	hsa-miR-3150b-3p	CLIP-seq
MIRT2461397	hsa-miR-3173-3p	CLIP-seq
MIRT2126734	hsa-miR-4422	CLIP-seq
MIRT2126742	hsa-miR-4533	CLIP-seq
MIRT2461398	hsa-miR-4784	CLIP-seq
MIRT2461399	hsa-miR-765	CLIP-seq

Show/Hide all (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
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
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	19008924
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IDA	23306615
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	18330356, 18585351, 21988832, 22673507, 25416956, 28514442, 31041561, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IDA	23306615
GO:0008270	Function	Zinc ion binding	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0022900	Process	Electron transport chain	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1903108	Process	Regulation of mitochondrial transcription	IEA

MIM	HGNC	e!Ensembl
609119	23194	ENSG00000168286

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
QQQQQQQQQQQQSSPSASTAQTAQLQPNLVSASAAVLLTLQATVDSSQAPGSVQPAPITP
TGEDVKPIDLTVQVEFAAAEGAAAAAAASELQAATAGLEAAECPMGPQLVVVGEEGFPDT
GSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKD
RLLAMAVIRKKHGM

Sequence length

314

Interactions

View interactions

	KEGG
	Cobalamin transport and metabolism

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Disorders of Intracellular Cobalamin Metabolism	Likely pathogenic	rs188675529	RCV002522728	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylmalonic acidemia with homocystinuria, type cblX	Likely pathogenic	rs188675529	RCV000498990	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Methylmalonic aciduria and homocystinuria, cb1L type	Likely pathogenic	rs188675529	RCV004719023	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLL TYPE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLX TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 51	Uncertain significance	ClinVar ClinVar, HPO ClinVar, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
THAP11-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Brachycephaly	Brachycephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22673507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22371484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22371484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	30836974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22673507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	22673507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22371484		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 3	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia	Pubtator	34655177	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methylmalonic Aciduria and Homocystinuria CblF Type	Methylmalonic acidemia	Pubtator	31905202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	21400515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22371484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24677642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32908912	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin B 12 Deficiency	Cobalamin deficiency	BEFREE	28363510		★★★★★ ★☆☆☆☆ Found in Text Mining only

THAP11 (THAP domain containing 11)