Gene Gene information from NCBI Gene database.
Entrez ID 7704
Gene name Zinc finger and BTB domain containing 16
Gene symbol ZBTB16
Synonyms (NCBI Gene)
PLZFZNF145
Chromosome 11
Chromosome location 11q23.2
Summary This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs121434606 A>G Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
167
miRTarBase ID miRNA Experiments Reference
MIRT718189 hsa-miR-6849-3p HITS-CLIP 19536157
MIRT718188 hsa-miR-361-3p HITS-CLIP 19536157
MIRT718187 hsa-miR-3162-3p HITS-CLIP 19536157
MIRT718186 hsa-miR-6778-3p HITS-CLIP 19536157
MIRT707766 hsa-miR-5011-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
74
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10688654, 12802276
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 10688654, 12802276
GO:0001222 Function Transcription corepressor binding IPI 10688654
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176797 12930 ENSG00000109906
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q05516
Protein name Zinc finger and BTB domain-containing protein 16 (Promyelocytic leukemia zinc finger protein) (Zinc finger protein 145) (Zinc finger protein PLZF)
Protein function Acts as a transcriptional repressor (PubMed:10688654, PubMed:24359566). Transcriptional repression may be mediated through recruitment of histone deacetylases to target promoters (PubMed:10688654). May play a role in myeloid maturation and in th
PDB 1BUO , 1CS3 , 8YTH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 24 126 BTB/POZ domain Domain
PF13912 zf-C2H2_6 460 485 Domain
PF00096 zf-C2H2 491 512 Zinc finger, C2H2 type Domain
PF13912 zf-C2H2_6 517 542 Domain
PF00096 zf-C2H2 546 568 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 574 596 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Within the hematopoietic system, PLZF is expressed in bone marrow, early myeloid cell lines and peripheral blood mononuclear cells. Also expressed in the ovary, and at lower levels, in the kidney and lung.
Sequence
MDLTKMGMIQLQNPSHPTGLLCKANQMRLAGTLCDVVIMVDSQEFHAHRTVLACTSKMFE
ILFHRNSQHYTLDFLSPKTFQQILEYAYTATLQAKAEDLDDLLYAAEILEIEYLEEQCLK
MLETIQ
ASDDNDTEATMADGGAEEEEDRKARYLKNIFISKHSSEESGYASVAGQSLPGPM
VDQSPSVSTSFGLSAMSPTKAAVDSLMTIGQSLLQGTLQPPAGPEEPTLAGGGRHPGVAE
VKTEMMQVDEVPSQDSPGAAESSISGGMGDKVEERGKEGPGTPTRSSVITSARELHYGRE
ESAEQVPPPAEAGQAPTGRPEHPAPPPEKHLGIYSVLPNHKADAVLSMPSSVTSGLHVQP
ALAVSMDFSTYGGLLPQGFIQRELFSKLGELAVGMKSESRTIGEQCSVCGVELPDNEAVE
QHRKLHSGMKTYGCELCGKRFLDSLRLRMHLLAHSAGAKAFVCDQCGAQFSKEDALETHR
QTHTG
TDMAVFCLLCGKRFQAQSALQQHMEVHAGVRSYICSECNRTFPSHTALKRHLRSH
TG
DHPYECEFCGSCFRDESTLKSHKRIHTGEKPYECNGCGKKFSLKHQLETHYRVHTGEK
PFECKLCHQRSRDYSAMIKHLRTHNGASPYQCTICTEYCPSLSSMQKHMKGHKPEEIPPD
WRIEKTYLYLCYV
Sequence length 673
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant tumor of urinary bladder Likely benign rs143295857 RCV005907430
See cases Uncertain significance rs763360681 RCV002252467
Skeletal defects, genital hypoplasia, and intellectual disability Uncertain significance rs121434606 RCV000014305
ZBTB16-related disorder Likely benign rs749597976, rs116547293, rs145655784, rs745894313, rs201372671, rs111746546, rs142709090 RCV003909675
RCV003964152
RCV003949659
RCV003947195
RCV003958974
RCV003971725
RCV003905910
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aberrant Crypt Foci Associate 24348178
Adenocarcinoma of Lung Associate 32998690
Adenoma Associate 24990570
Adenomatous Polyposis Coli Associate 24990570
Aortic Aneurysm Abdominal Associate 29439675
Ataxia Telangiectasia Associate 22555178
Bone Marrow Diseases Associate 22555178
Breast Neoplasms Associate 26070530, 37902007
Carcinogenesis Associate 24348178, 25807461, 25990457, 33414372
Carcinoma Renal Cell Associate 36530957