Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618181 16740 ENSG00000066422
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
EKLD
RSRPISDVSEMLEELGLDLESGEESNESEDDLSNFTSSPTTASKPAKKKPVSKHEL
VFVDTKGVVKRSSPKHCQAVLKQLNEQRLSNQFCDVTLLIEGEEYKAHKSVLSANSEYFR
DLFIEKGAVSSHEAVVDLSGFCKASFLPLLEFAYTSVLSFDFCSMADVAILARHLFMSEV
LEICESVHKL
MEEKQLTVYKKGEVQTVASTQDLRVQNGGTAPPVASSEGTTTSLPTELGD
CEIVLLVNGELPEAEQNGEVGRQPEPQVSSEAESALSSVGCIADSHPEMESVDLITKNNQ
TELETSNNRENNTVSNIHPKLSKENVISSSPEDSGMGNDISAEDICAEDIPKHRQKVDQP
LKDQENLVASTAKTDFGPDDDTYRSRLRQRSVNEGAYIRLHKGMEKKLQKRKAVPKSAVQ
QVAQKLVQRGKKMKQPKRDAKENTEEASHKCGECGMVFQRRYALIMHKLKHERARDYKCP
LCKKQFQYSASLRAHLIRHTRK
DAPSSSSSNSTSNEASGTSSEKGRTKREFICSICGRTL
PKLYSLRIHMLKHT
GVKPHACQVCGKTFIYKHGLKLHQSLHQSQKQFQCELCVKSFVTKR
SLQEHMSIH
TGESKYLCSVCGKSFHRGSGLSKHFKKHQPKPEVRGYHCTQCEKSFFEARD
LRQHMNKHLGVKPFQCQFCDKCYSWKKDWYSHVKSHSVTEPYRCNICGKEFYEKALFRRH
VKKATH
GKKGRAKQNLERVCEKCGRKFTQLREYRRHMNNHEGVKPFECLTCGVAWADARS
LKRHVRTHTGERPYVCPVCSEAYIDARTLRKHMTKFHRDYVPCKIMLEKDTLQFHNQGTQ
VAHAVSILTAGMQEQESSGPQELETVVVTGETMEALEAVAATEEYPSVSTLSDQSIMQVV
NYVLAQQQGQKLSEVAEAIQTVKVEVAHISGGE
Sequence length 1053
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
30
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual developmental disorder, autosomal recessive 69 Pathogenic rs2545757536, rs1278779161, rs1936985911, rs767988210, rs150334315, rs2545779418, rs1559982532, rs1559981249 RCV002280845
RCV002280846
RCV002280847
RCV002280848
RCV002280849
RCV003234937
RCV000767226
RCV000767227
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Likely benign rs56200814 RCV005871485
Cholangiocarcinoma Likely benign rs56200814 RCV005871486
Colon adenocarcinoma Likely benign rs56200814 RCV005871481
Familial cancer of breast Likely benign rs56200814 RCV005871480
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33758355
Arrhythmogenic Right Ventricular Dysplasia Associate 35576477
Carcinogenesis Stimulate 36054300
Carcinoma Ovarian Epithelial Associate 34794761
Cardiomyopathies Associate 35576477
COVID 19 Associate 37643521
Melanoma Associate 35993275
Nerve Degeneration Associate 35576477
Odontoma Associate 35576477
Tooth Loss Associate 35576477