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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	27107
Gene name	Zinc finger and BTB domain containing 11
Gene symbol	ZBTB11
Synonyms (NCBI Gene)	MRT69ZNF-U69274ZNF913
Chromosome	3
Chromosome location	3q12.3

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1559981249	A>C	Pathogenic	Missense variant, coding sequence variant
rs1559982532	G>A	Pathogenic	Missense variant, coding sequence variant

178

Show/Hide all (178)

miRTarBase ID	miRNA	Experiments	Reference
MIRT037233	hsa-miR-877-5p	CLASH	23622248
MIRT1501968	hsa-miR-1273d	CLIP-seq
MIRT1501969	hsa-miR-1297	CLIP-seq
MIRT1501970	hsa-miR-19a	CLIP-seq
MIRT1501971	hsa-miR-19b	CLIP-seq
MIRT1501972	hsa-miR-224	CLIP-seq
MIRT1501973	hsa-miR-23a	CLIP-seq
MIRT1501974	hsa-miR-23b	CLIP-seq
MIRT1501975	hsa-miR-23c	CLIP-seq
MIRT1501976	hsa-miR-26a	CLIP-seq
MIRT1501977	hsa-miR-26b	CLIP-seq
MIRT1501978	hsa-miR-3121-3p	CLIP-seq
MIRT1501979	hsa-miR-3187-3p	CLIP-seq
MIRT1501980	hsa-miR-3591-5p	CLIP-seq
MIRT1501981	hsa-miR-3616-3p	CLIP-seq
MIRT1501982	hsa-miR-362-5p	CLIP-seq
MIRT1501983	hsa-miR-3681	CLIP-seq
MIRT1501984	hsa-miR-3688-5p	CLIP-seq
MIRT1501985	hsa-miR-4275	CLIP-seq
MIRT1501986	hsa-miR-4326	CLIP-seq
MIRT1501987	hsa-miR-4422	CLIP-seq
MIRT1501988	hsa-miR-4435	CLIP-seq
MIRT1501989	hsa-miR-4446-3p	CLIP-seq
MIRT1501990	hsa-miR-4460	CLIP-seq
MIRT1501991	hsa-miR-4465	CLIP-seq
MIRT1501992	hsa-miR-4481	CLIP-seq
MIRT1501993	hsa-miR-4509	CLIP-seq
MIRT1501994	hsa-miR-4536	CLIP-seq
MIRT1501995	hsa-miR-4642	CLIP-seq
MIRT1501996	hsa-miR-4658	CLIP-seq
MIRT1501997	hsa-miR-4659a-3p	CLIP-seq
MIRT1501998	hsa-miR-4659b-3p	CLIP-seq
MIRT1501999	hsa-miR-4698	CLIP-seq
MIRT1502000	hsa-miR-4701-5p	CLIP-seq
MIRT1502001	hsa-miR-4721	CLIP-seq
MIRT1502002	hsa-miR-4727-3p	CLIP-seq
MIRT1502003	hsa-miR-4729	CLIP-seq
MIRT1502004	hsa-miR-4744	CLIP-seq
MIRT1502005	hsa-miR-4745-5p	CLIP-seq
MIRT1502006	hsa-miR-4758-5p	CLIP-seq
MIRT1502007	hsa-miR-4766-5p	CLIP-seq
MIRT1502008	hsa-miR-4793-3p	CLIP-seq
MIRT1502009	hsa-miR-500b	CLIP-seq
MIRT1502010	hsa-miR-501-5p	CLIP-seq
MIRT1502011	hsa-miR-539	CLIP-seq
MIRT1502012	hsa-miR-548c-3p	CLIP-seq
MIRT1502013	hsa-miR-548s	CLIP-seq
MIRT1502014	hsa-miR-577	CLIP-seq
MIRT1502015	hsa-miR-588	CLIP-seq
MIRT1502016	hsa-miR-660	CLIP-seq
MIRT1502017	hsa-miR-944	CLIP-seq
MIRT2150901	hsa-miR-105	CLIP-seq
MIRT2150902	hsa-miR-1305	CLIP-seq
MIRT2150903	hsa-miR-142-5p	CLIP-seq
MIRT2150904	hsa-miR-2681	CLIP-seq
MIRT2150905	hsa-miR-30a	CLIP-seq
MIRT2150906	hsa-miR-30b	CLIP-seq
MIRT2150907	hsa-miR-30c	CLIP-seq
MIRT2150908	hsa-miR-30d	CLIP-seq
MIRT2150909	hsa-miR-30e	CLIP-seq
MIRT2150910	hsa-miR-3115	CLIP-seq
MIRT2150911	hsa-miR-3153	CLIP-seq
MIRT2150912	hsa-miR-340	CLIP-seq
MIRT2150913	hsa-miR-3646	CLIP-seq
MIRT2150914	hsa-miR-410	CLIP-seq
MIRT1501986	hsa-miR-4326	CLIP-seq
MIRT2150915	hsa-miR-433	CLIP-seq
MIRT2150916	hsa-miR-450b-5p	CLIP-seq
MIRT2150917	hsa-miR-4668-5p	CLIP-seq
MIRT1501999	hsa-miR-4698	CLIP-seq
MIRT1502003	hsa-miR-4729	CLIP-seq
MIRT2150918	hsa-miR-518a-5p	CLIP-seq
MIRT2150919	hsa-miR-527	CLIP-seq
MIRT2150920	hsa-miR-579	CLIP-seq
MIRT2150921	hsa-miR-664	CLIP-seq
MIRT2150901	hsa-miR-105	CLIP-seq
MIRT2371514	hsa-miR-1257	CLIP-seq
MIRT2371515	hsa-miR-1261	CLIP-seq
MIRT1501968	hsa-miR-1273d	CLIP-seq
MIRT2150902	hsa-miR-1305	CLIP-seq
MIRT2371516	hsa-miR-1324	CLIP-seq
MIRT2371517	hsa-miR-1587	CLIP-seq
MIRT1501970	hsa-miR-19a	CLIP-seq
MIRT1501971	hsa-miR-19b	CLIP-seq
MIRT2371518	hsa-miR-203	CLIP-seq
MIRT2371519	hsa-miR-216b	CLIP-seq
MIRT2371520	hsa-miR-219-2-3p	CLIP-seq
MIRT2371521	hsa-miR-297	CLIP-seq
MIRT2150905	hsa-miR-30a	CLIP-seq
MIRT2150906	hsa-miR-30b	CLIP-seq
MIRT2150907	hsa-miR-30c	CLIP-seq
MIRT2150908	hsa-miR-30d	CLIP-seq
MIRT2150909	hsa-miR-30e	CLIP-seq
MIRT2150910	hsa-miR-3115	CLIP-seq
MIRT2371522	hsa-miR-3145-5p	CLIP-seq
MIRT2150911	hsa-miR-3153	CLIP-seq
MIRT2371523	hsa-miR-3157-5p	CLIP-seq
MIRT2371524	hsa-miR-3166	CLIP-seq
MIRT2371525	hsa-miR-3177-5p	CLIP-seq
MIRT2150912	hsa-miR-340	CLIP-seq
MIRT1501980	hsa-miR-3591-5p	CLIP-seq
MIRT2371526	hsa-miR-3647-3p	CLIP-seq
MIRT2371527	hsa-miR-3671	CLIP-seq
MIRT2371528	hsa-miR-3675-3p	CLIP-seq
MIRT1501983	hsa-miR-3681	CLIP-seq
MIRT2371529	hsa-miR-377	CLIP-seq
MIRT2371530	hsa-miR-3973	CLIP-seq
MIRT2371531	hsa-miR-421	CLIP-seq
MIRT2371532	hsa-miR-4276	CLIP-seq
MIRT2371533	hsa-miR-4302	CLIP-seq
MIRT2371534	hsa-miR-4307	CLIP-seq
MIRT1501990	hsa-miR-4460	CLIP-seq
MIRT2371535	hsa-miR-4492	CLIP-seq
MIRT2371536	hsa-miR-4498	CLIP-seq
MIRT2150916	hsa-miR-450b-5p	CLIP-seq
MIRT2371537	hsa-miR-4656	CLIP-seq
MIRT2150917	hsa-miR-4668-5p	CLIP-seq
MIRT2371538	hsa-miR-4675	CLIP-seq
MIRT2371539	hsa-miR-4677-3p	CLIP-seq
MIRT2371540	hsa-miR-4679	CLIP-seq
MIRT2371541	hsa-miR-4684-5p	CLIP-seq
MIRT2371542	hsa-miR-4691-3p	CLIP-seq
MIRT2371543	hsa-miR-4704-3p	CLIP-seq
MIRT2371544	hsa-miR-4704-5p	CLIP-seq
MIRT1502002	hsa-miR-4727-3p	CLIP-seq
MIRT1502003	hsa-miR-4729	CLIP-seq
MIRT2371545	hsa-miR-4741	CLIP-seq
MIRT2371546	hsa-miR-4760-3p	CLIP-seq
MIRT2371547	hsa-miR-4768-5p	CLIP-seq
MIRT2371548	hsa-miR-4796-5p	CLIP-seq
MIRT2371549	hsa-miR-488	CLIP-seq
MIRT2150918	hsa-miR-518a-5p	CLIP-seq
MIRT2371550	hsa-miR-520g	CLIP-seq
MIRT2371551	hsa-miR-520h	CLIP-seq
MIRT2150919	hsa-miR-527	CLIP-seq
MIRT2371552	hsa-miR-553	CLIP-seq
MIRT2371553	hsa-miR-567	CLIP-seq
MIRT2371554	hsa-miR-590-3p	CLIP-seq
MIRT2371555	hsa-miR-607	CLIP-seq
MIRT1502016	hsa-miR-660	CLIP-seq
MIRT2371556	hsa-miR-762	CLIP-seq
MIRT1501981	hsa-miR-3616-3p	CLIP-seq
MIRT1501989	hsa-miR-4446-3p	CLIP-seq
MIRT1502001	hsa-miR-4721	CLIP-seq
MIRT1502008	hsa-miR-4793-3p	CLIP-seq
MIRT2434891	hsa-miR-4282	CLIP-seq
MIRT2371549	hsa-miR-488	CLIP-seq
MIRT2434891	hsa-miR-4282	CLIP-seq
MIRT2371549	hsa-miR-488	CLIP-seq
MIRT2434891	hsa-miR-4282	CLIP-seq
MIRT2371549	hsa-miR-488	CLIP-seq
MIRT2664790	hsa-miR-1206	CLIP-seq
MIRT2664791	hsa-miR-1298	CLIP-seq
MIRT1501970	hsa-miR-19a	CLIP-seq
MIRT1501971	hsa-miR-19b	CLIP-seq
MIRT2371520	hsa-miR-219-2-3p	CLIP-seq
MIRT2150905	hsa-miR-30a	CLIP-seq
MIRT2150906	hsa-miR-30b	CLIP-seq
MIRT2150907	hsa-miR-30c	CLIP-seq
MIRT2150908	hsa-miR-30d	CLIP-seq
MIRT2150909	hsa-miR-30e	CLIP-seq
MIRT2664792	hsa-miR-320a	CLIP-seq
MIRT2664793	hsa-miR-320b	CLIP-seq
MIRT2664794	hsa-miR-320c	CLIP-seq
MIRT2664795	hsa-miR-320d	CLIP-seq
MIRT2664796	hsa-miR-375	CLIP-seq
MIRT2371529	hsa-miR-377	CLIP-seq
MIRT2371532	hsa-miR-4276	CLIP-seq
MIRT2371533	hsa-miR-4302	CLIP-seq
MIRT2664797	hsa-miR-4429	CLIP-seq
MIRT2150916	hsa-miR-450b-5p	CLIP-seq
MIRT2371539	hsa-miR-4677-3p	CLIP-seq
MIRT2371540	hsa-miR-4679	CLIP-seq
MIRT2664798	hsa-miR-4762-5p	CLIP-seq
MIRT2150918	hsa-miR-518a-5p	CLIP-seq
MIRT2150919	hsa-miR-527	CLIP-seq
MIRT2664799	hsa-miR-570	CLIP-seq
MIRT2664800	hsa-miR-580	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
618181	16740	ENSG00000066422

O95625

Protein name

Zinc finger and BTB domain-containing protein 11

Protein function

May be involved in transcriptional regulation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17921	Integrase_H2C2	66 → 124	Integrase zinc binding domain	Domain
PF00651	BTB	204 → 310	BTB/POZ domain	Domain
PF13912	zf-C2H2_6	568 → 594		Domain
PF13912	zf-C2H2_6	596 → 622		Domain
PF13912	zf-C2H2_6	650 → 674		Domain
PF00096	zf-C2H2	707 → 729	Zinc finger, C2H2 type	Domain
PF13912	zf-C2H2_6	734 → 760		Domain
PF00096	zf-C2H2	822 → 846	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	859 → 880	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	914 → 937	Zinc finger, C2H2 type	Domain

Sequence

MSSEESYRAILRYLTNEREPYAPGTEGNVKRKIRKAAACYVVRGGTLYYQRRQRHRKTFA
ELEVVLQPERRRDLIEAAHLGPGGTHHTRHQTWHYLSKTYWWRGILKQVKDYIKQCSKCQ
EKLDRSRPISDVSEMLEELGLDLESGEESNESEDDLSNFTSSPTTASKPAKKKPVSKHEL
VFVDTKGVVKRSSPKHCQAVLKQLNEQRLSNQFCDVTLLIEGEEYKAHKSVLSANSEYFR
DLFIEKGAVSSHEAVVDLSGFCKASFLPLLEFAYTSVLSFDFCSMADVAILARHLFMSEV
LEICESVHKLMEEKQLTVYKKGEVQTVASTQDLRVQNGGTAPPVASSEGTTTSLPTELGD
CEIVLLVNGELPEAEQNGEVGRQPEPQVSSEAESALSSVGCIADSHPEMESVDLITKNNQ
TELETSNNRENNTVSNIHPKLSKENVISSSPEDSGMGNDISAEDICAEDIPKHRQKVDQP
LKDQENLVASTAKTDFGPDDDTYRSRLRQRSVNEGAYIRLHKGMEKKLQKRKAVPKSAVQ
QVAQKLVQRGKKMKQPKRDAKENTEEASHKCGECGMVFQRRYALIMHKLKHERARDYKCP
LCKKQFQYSASLRAHLIRHTRKDAPSSSSSNSTSNEASGTSSEKGRTKREFICSICGRTL
PKLYSLRIHMLKHTGVKPHACQVCGKTFIYKHGLKLHQSLHQSQKQFQCELCVKSFVTKR
SLQEHMSIHTGESKYLCSVCGKSFHRGSGLSKHFKKHQPKPEVRGYHCTQCEKSFFEARD
LRQHMNKHLGVKPFQCQFCDKCYSWKKDWYSHVKSHSVTEPYRCNICGKEFYEKALFRRH
VKKATHGKKGRAKQNLERVCEKCGRKFTQLREYRRHMNNHEGVKPFECLTCGVAWADARS
LKRHVRTHTGERPYVCPVCSEAYIDARTLRKHMTKFHRDYVPCKIMLEKDTLQFHNQGTQ
VAHAVSILTAGMQEQESSGPQELETVVVTGETMEALEAVAATEEYPSVSTLSDQSIMQVV
NYVLAQQQGQKLSEVAEAIQTVKVEVAHISGGE

Sequence length

1053

Interactions

View interactions

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual developmental disorder, autosomal recessive 69	Pathogenic	rs2545757536, rs1278779161, rs1936985911, rs767988210, rs150334315, rs2545779418, rs1559982532, rs1559981249	RCV002280845 RCV002280846 RCV002280847 RCV002280848 RCV002280849 RCV003234937 RCV000767226 RCV000767227 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

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.
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES, COGNITIVE DECLINE, AND BRAIN ABNORMALITIES	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZBTB11-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	35576477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36054300	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34794761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	35576477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	28382966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29893856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17786358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35993275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36054300	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ZBTB11 (zinc finger and BTB domain containing 11)