Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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]

84 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

27 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 Pathway
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)

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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (6)
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
methylmalonic aciduria and homocystinuria	—	ClinGen	28449119, 31905202, 35013307, ClinGen report	★★★★★ ★★☆☆☆ 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

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (17)
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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ZNF143	3	["Intracellular cobalamin metabolism disorder","Methylmalonic acidemia","methylmalonic aciduria and homocystinuria"]	1	["Cobalamin transport and metabolism"]	4	["ClinVar (Intracellular cobalamin metabolism disorder)","Disgenet (Methylmalonic acidemia)","ClinGen (Methylmalonic acidemia)","ClinGen (methylmalonic aciduria and homocystinuria)"]
LMBRD1	2	["Intracellular cobalamin metabolism disorder","Methylmalonic acidemia"]	1	["Cobalamin transport and metabolism"]	6	["ClinVar (Intracellular cobalamin metabolism disorder)","Disgenet (Methylmalonic acidemia)","ClinGen (Methylmalonic acidemia)","ClinVar (Methylmalonic acidemia)","GWAS catalog (Methylmalonic acidemia)","HPO (Methylmalonic acidemia)"]
ABCD4	2	["Intracellular cobalamin metabolism disorder","Methylmalonic acidemia"]	1	["Cobalamin transport and metabolism"]	6	["ClinVar (Intracellular cobalamin metabolism disorder)","Disgenet (Methylmalonic acidemia)","ClinGen (Methylmalonic acidemia)","ClinVar (Methylmalonic acidemia)","GWAS catalog (Methylmalonic acidemia)","HPO (Methylmalonic acidemia)"]
MMACHC	2	["Intracellular cobalamin metabolism disorder","Methylmalonic acidemia"]	1	["Cobalamin transport and metabolism"]	2	["ClinVar (Intracellular cobalamin metabolism disorder)","Disgenet (Methylmalonic acidemia)"]
MMADHC	2	["Intracellular cobalamin metabolism disorder","Methylmalonic acidemia"]	1	["Cobalamin transport and metabolism"]	4	["ClinVar (Intracellular cobalamin metabolism disorder)","Disgenet (Methylmalonic acidemia)","ClinVar (Methylmalonic acidemia)","HPO (Methylmalonic acidemia)"]

THAP11 (THAP domain containing 11)

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