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 cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this l... See more...

Aliases for ZBTB16 Gene

Aliases for ZBTB16 Gene

  • Zinc Finger And BTB Domain Containing 16 2 3 5
  • Zinc Finger Protein 145 (Kruppel-Like, Expressed In Promyelocytic Leukemia) 2 3
  • Zinc Finger And BTB Domain-Containing Protein 16 3 4
  • Promyelocytic Leukaemia Zinc Finger 2 3
  • Zinc Finger Protein PLZF 3 4
  • ZNF145 3 4
  • PLZF 3 4
  • Promyelocytic Leukemia Zinc Finger Protein 4
  • Zinc Finger Protein 145 4

External Ids for ZBTB16 Gene

Previous HGNC Symbols for ZBTB16 Gene

  • ZNF145

Previous GeneCards Identifiers for ZBTB16 Gene

  • GC11P113435
  • GC11P113930
  • GC11P109859

Summaries for ZBTB16 Gene

Entrez Gene Summary for ZBTB16 Gene

  • 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 cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for ZBTB16 Gene

ZBTB16 (Zinc Finger And BTB Domain Containing 16) is a Protein Coding gene. Diseases associated with ZBTB16 include Skeletal Defects, Genital Hypoplasia, And Mental Retardation and Acute Promyelocytic Leukemia. Among its related pathways are Development and heterogeneity of the ILC family and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and identical protein binding. An important paralog of this gene is ZBTB32.

UniProtKB/Swiss-Prot Summary for ZBTB16 Gene

  • Acts as a transcriptional repressor (PubMed:24359566). May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312).

Gene Wiki entry for ZBTB16 Gene

Additional gene information for ZBTB16 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZBTB16 Gene

Genomics for ZBTB16 Gene

GeneHancer (GH) Regulatory Elements for ZBTB16 Gene

Promoters and enhancers for ZBTB16 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZBTB16 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZBTB16

Top Transcription factor binding sites by QIAGEN in the ZBTB16 gene promoter:
  • AML1a

Genomic Locations for ZBTB16 Gene

Genomic Locations for ZBTB16 Gene
chr11:114,059,579-114,256,765
(GRCh38/hg38)
Size:
197,187 bases
Orientation:
Plus strand
chr11:113,930,315-114,121,398
(GRCh37/hg19)
Size:
191,084 bases
Orientation:
Plus strand

Genomic View for ZBTB16 Gene

Genes around ZBTB16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZBTB16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB16 Gene

Proteins for ZBTB16 Gene

  • Protein details for ZBTB16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05516-ZBT16_HUMAN
    Recommended name:
    Zinc finger and BTB domain-containing protein 16
    Protein Accession:
    Q05516
    Secondary Accessions:
    • Q8TAL4

    Protein attributes for ZBTB16 Gene

    Size:
    673 amino acids
    Molecular mass:
    74274 Da
    Quaternary structure:
    • Binds EPN1 (PubMed:11161217). Interacts with ZBTB32 and CUL3 (PubMed:10572087, PubMed:14528312). Interacts with ATP7B (PubMed:16676348). Interacts (via C2H2-type zinc finger domains 1 and 2) with RNF112 (PubMed:24359566).

    Three dimensional structures from OCA and Proteopedia for ZBTB16 Gene

    Alternative splice isoforms for ZBTB16 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZBTB16 Gene

Post-translational modifications for ZBTB16 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZBTB16 Gene

Domains & Families for ZBTB16 Gene

Gene Families for ZBTB16 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ZBTB16 Gene

Blocks:
  • BTB/POZ domain
  • C2H2-type zinc finger signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZBTB16 Gene

GenScript: Design optimal peptide antigens:
  • Promyelocytic leukemia zinc finger (Q71UL5_HUMAN)
  • Promyelocytic leukemia zinc finger (Q71UL6_HUMAN)
  • Promyelocytic leukemia zinc finger (Q71UL7_HUMAN)
  • Zinc finger protein PLZF (ZBT16_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q05516

UniProtKB/Swiss-Prot:

ZBT16_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZBTB16: view

Function for ZBTB16 Gene

Molecular function for ZBTB16 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional repressor (PubMed:24359566). May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312).
UniProtKB/Swiss-Prot Induction:
By retinoic acid.

Phenotypes From GWAS Catalog for ZBTB16 Gene

Gene Ontology (GO) - Molecular Function for ZBTB16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA 12802276
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 12802276
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IDA,NAS 9294197
GO:0003690 double-stranded DNA binding IEA --
genes like me logo Genes that share ontologies with ZBTB16: view
genes like me logo Genes that share phenotypes with ZBTB16: view

Human Phenotype Ontology for ZBTB16 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZBTB16 Gene

MGI Knock Outs for ZBTB16:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ZBTB16 Gene

Localization for ZBTB16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB16 Gene

Nucleus. Nucleus, nuclear body.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZBTB16 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ZBTB16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 9294197
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016604 nuclear body IDA,IEA 19648967
GO:0016605 PML body IDA 9294197
genes like me logo Genes that share ontologies with ZBTB16: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZBTB16 Gene

Pathways & Interactions for ZBTB16 Gene

genes like me logo Genes that share pathways with ZBTB16: view

UniProtKB/Swiss-Prot Q05516-ZBT16_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for ZBTB16 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ZBTB16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 12802276
GO:0001501 skeletal system development IEA --
GO:0001823 mesonephros development ISS 8541544
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006915 apoptotic process NAS 9294197
genes like me logo Genes that share ontologies with ZBTB16: view

Drugs & Compounds for ZBTB16 Gene

(4) Drugs for ZBTB16 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma 2822

(2) Additional Compounds for ZBTB16 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ZBTB16: view

Transcripts for ZBTB16 Gene

mRNA/cDNA for ZBTB16 Gene

5 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB16 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: - - - -
SP2: - - -
SP3:
SP4: - -
SP5: -

Relevant External Links for ZBTB16 Gene

GeneLoc Exon Structure for
ZBTB16

Expression for ZBTB16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZBTB16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ZBTB16 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.4), Ovary (21.0), NK cells (11.9), and Liver (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZBTB16 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZBTB16

SOURCE GeneReport for Unigene cluster for ZBTB16 Gene:

Hs.591945

mRNA Expression by UniProt/SwissProt for ZBTB16 Gene:

Q05516-ZBT16_HUMAN
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.

Evidence on tissue expression from TISSUES for ZBTB16 Gene

  • Heart(4.3)
  • Nervous system(4.3)
  • Blood(2.4)
  • Liver(2.1)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZBTB16 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • penis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ZBTB16: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ZBTB16 Gene

Orthologs for ZBTB16 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZBTB16 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia ZBTB16 31
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ZBTB16 31 30
  • 98.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZBTB16 31 30
  • 92.37 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZBTB16 31
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZBTB16 31 30
  • 91.83 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zbtb16 30
  • 90.54 (n)
mouse
(Mus musculus)
Mammalia Zbtb16 17 31 30
  • 90.49 (n)
chicken
(Gallus gallus)
Aves ZBTB16 31 30
  • 81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZBTB16 31
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zbtb16 30
  • 73.33 (n)
Str.9134 30
zebrafish
(Danio rerio)
Actinopterygii zbtb16a 31 30
  • 75.5 (n)
OneToMany
zbtb16b 31
  • 71 (a)
OneToMany
wufb93g12 30
Species where no ortholog for ZBTB16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZBTB16 Gene

ENSEMBL:
Gene Tree for ZBTB16 (if available)
TreeFam:
Gene Tree for ZBTB16 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZBTB16: view image

Paralogs for ZBTB16 Gene

Variants for ZBTB16 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZBTB16 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
717252 Benign: not provided 114,064,548(+) C/T SYNONYMOUS_VARIANT
724498 Likely Benign: not provided 114,064,239(+) C/T SYNONYMOUS_VARIANT
725864 Benign: not provided 114,063,972(+) C/T SYNONYMOUS_VARIANT
730951 Likely Benign: not provided 114,156,361(+) G/A SYNONYMOUS_VARIANT
731188 Benign: not provided 114,063,972(+) C/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ZBTB16 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZBTB16 Gene

Variant ID Type Subtype PubMed ID
esv2001202 CNV deletion 18987734
nsv475947 CNV novel sequence insertion 20440878
nsv498 CNV deletion 18451855
nsv521857 CNV loss 19592680
nsv826091 CNV gain 20364138
nsv952735 CNV deletion 24416366

Variation tolerance for ZBTB16 Gene

Residual Variation Intolerance Score: 10% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZBTB16 Gene

Human Gene Mutation Database (HGMD)
ZBTB16
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB16 Gene

Disorders for ZBTB16 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ZBTB16 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZBT16_HUMAN
  • Skeletal defects, genital hypoplasia, and mental retardation (SGYMR) [MIM:612447]: A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. {ECO:0000269 PubMed:18611983}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA. {ECO:0000269 PubMed:8384553}.

Additional Disease Information for ZBTB16

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ZBTB16: view

No data available for Genatlas for ZBTB16 Gene

Publications for ZBTB16 Gene

No publications were found for ZBTB16 Gene.

Products for ZBTB16 Gene

Sources for ZBTB16 Gene