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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
External Ids for ZBTB16 Gene
- HGNC: 12930
- NCBI Entrez Gene: 7704
- Ensembl: ENSG00000109906
- OMIM®: 176797
- UniProtKB/Swiss-Prot: Q05516
Previous HGNC Symbols for ZBTB16 Gene
- ZNF145
Previous GeneCards Identifiers for ZBTB16 Gene
- GC11P113435
- GC11P113930
- GC11P109859
Summaries 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 Innate Immune System 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).
Additional gene information for ZBTB16 Gene
- HGNC (12930)
- NCBI Entrez Gene (7704)
- Ensembl (ENSG00000109906)
- OMIM® (176797)
- UniProtKB/Swiss-Prot (Q05516)
- Open Targets Platform(ENSG00000109906)
- Monarch Initiative
- Search for ZBTB16 at DataMed
- Search for ZBTB16 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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
Latest Assembly
- chr11:114,059,576-114,256,770
- (GRCh38/hg38)
- Size:
- 197,195 bases
- Orientation:
- Plus strand
Previous Assembly
- chr11:113,930,433-114,127,492
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 197,060 bases
- Orientation:
- Plus strand
- chr11:113,930,315-114,121,398
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 11q23.2 by HGNC
- 11q23.2 by Entrez Gene
- 11q23.2 by Ensembl
ZBTB16 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for ZBTB16 Gene
Post-translational modifications for ZBTB16 Gene
Other Protein References for ZBTB16 Gene
Antibodies for research
- LifeSpan BioSciences ZBTB16 / PLZF Monoclonal Antibody
- G Biosciences Immunotag™ PLZF Monoclonal Antibody and Immunotag™ ZBTB16 Antibody
- GeneTex Anti-PLZF antibody [N1N3]
-
Custom Antibody ServicesOriGene Antibodies for ZBTB16
- Novus Biologicals Antibodies for ZBTB16
-
Abcam antibodies for ZBTB16
- Invitrogen Antibodies for ZBTB16 (AFLGC-ZBTB16)
-
Custom Antibody ServicesProSci Antibodies for ZBTB16
-
Santa Cruz Biotechnology (SCBT) Antibodies for ZBTB16
- Sino Biological Antibodies for ZBTB16
Protein products for research
-
OriGene Purified Proteins for ZBTB16
- Search Origene for MassSpec and Protein Over-expression Lysates for ZBTB16
- Origene Custom Protein Services for ZBTB16
-
Abcam proteins for ZBTB16
Assay products for research
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
- InterPro:
- Blocks:
-
- C2H2-type zinc finger signature
- BTB/POZ domain
- 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- Family:
-
- Belongs to the krueppel C2H2-type zinc-finger protein family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 12802276 |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 12802276 |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IBA | 21873635 |
| GO:0003677 | DNA binding | IDA,NAS | 9294197 |
| GO:0003690 | double-stranded DNA binding | IEA | -- |
Phenotypes for ZBTB16 Gene
- MGI mutant phenotypes for ZBTB16:
- inferred from 9 alleles
- GenomeRNAi human phenotypes for ZBTB16:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- shRNA abundance <= 50%
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in non-small-cell lung cancer (NSCLC) lineage; decreased viability in ovarian lineage
- Synthetic lethal with vaccinia virus (VACV) infection
- Increased Salmonella proliferation
Animal Models for ZBTB16 Gene
- MGI Knock Outs for ZBTB16:
-
- Zbtb16 Zbtb16<tm1Ppp>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ZBTB16 - Starting at $85 >
- * ZBTB16 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ZBTB16
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ZBTB16
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZBTB16
miRNA for ZBTB16 Gene
- miRTarBase miRNAs that target ZBTB16
-
- hsa-miR-1277-5p (MIRT520001)
- hsa-miR-6083 (MIRT520002)
- hsa-miR-5580-3p (MIRT520003)
- hsa-miR-190a-3p (MIRT520004)
- hsa-miR-301b-3p (MIRT564828)
- hsa-miR-3145-3p (MIRT564829)
- hsa-miR-186-3p (MIRT564830)
- hsa-miR-5685 (MIRT564831)
- hsa-miR-4699-3p (MIRT564832)
- hsa-miR-4690-3p (MIRT564833)
- hsa-miR-3908 (MIRT564834)
- hsa-miR-330-3p (MIRT564835)
- hsa-miR-424-5p (MIRT564836)
- hsa-miR-497-5p (MIRT564837)
- hsa-miR-15a-5p (MIRT564838)
- hsa-miR-6838-5p (MIRT564839)
- hsa-miR-16-5p (MIRT564840)
- hsa-miR-195-5p (MIRT564841)
- hsa-miR-15b-5p (MIRT564842)
- hsa-miR-6783-3p (MIRT651384)
- hsa-miR-1343-3p (MIRT651385)
- hsa-miR-6749-3p (MIRT651386)
- hsa-miR-452-3p (MIRT651387)
- hsa-miR-24-3p (MIRT651388)
- hsa-miR-4284 (MIRT651389)
- hsa-miR-1976 (MIRT651390)
- hsa-miR-3653-5p (MIRT651391)
- hsa-miR-4685-3p (MIRT651392)
- hsa-miR-4287 (MIRT651393)
- hsa-miR-4469 (MIRT651394)
- hsa-miR-6742-3p (MIRT651395)
- hsa-miR-6852-5p (MIRT651396)
- hsa-miR-939-3p (MIRT651397)
- hsa-miR-5088-3p (MIRT651398)
- hsa-miR-5193 (MIRT651399)
- hsa-miR-1470 (MIRT651400)
- hsa-miR-4667-3p (MIRT651401)
- hsa-miR-1306-5p (MIRT651402)
- hsa-miR-5011-5p (MIRT707766)
- hsa-miR-6778-3p (MIRT718186)
- hsa-miR-3162-3p (MIRT718187)
- hsa-miR-361-3p (MIRT718188)
- hsa-miR-6849-3p (MIRT718189)
- mmu-miR-466f-3p (MIRT791471)
- mmu-miR-466q (MIRT791616)
- mmu-miR-467f (MIRT791754)
- mmu-miR-669c-3p (MIRT791923)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ZBTB16
- Browse OriGene Inhibitory RNA Products For ZBTB16
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBTB16
Clone products for research
- Applied Biological Materials (abm): Clones for ZBTB16 - Starting at $45 >
- * ZBTB16 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ZBTB16
- Addgene plasmids for ZBTB16
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ZBTB16
Cell Lines for research
-
Horizon Cell Lines for ZBTB16
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.
| 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 |
| 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 | IEA,IDA | 19648967 |
| GO:0016605 | PML body | IDA | 9294197 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZBTB16 Gene
Pathways & Interactions for ZBTB16 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | NF-kappaB Signaling | ||
| 3 | Endometrial cancer | ||
| 4 | Pathways in cancer | ||
| 5 | Transcriptional misregulation in cancer | ||
Pathways by source for ZBTB16 Gene
3 BioSystems pathways for ZBTB16 Gene
4 Reactome pathways for ZBTB16 Gene
3 KEGG pathways for ZBTB16 Gene
1 R&D Systems pathway for ZBTB16 Gene
1 Cell Signaling Technology pathway for ZBTB16 Gene
UniProtKB/Swiss-Prot Q05516-ZBT16_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for ZBTB16 Gene
Selected Interacting proteins:
Q05516-ZBT16_HUMAN
ENSP00000338157
for ZBTB16 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ZBTB16
SIGNOR curated interactions 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:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
Drugs & Compounds for ZBTB16 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Zinc | Approved, Investigational | Pharma | 1687 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
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 :
-
- ENST00000335953 8494 nts (view in UCSC)
- ENST00000392996 2287 nts (view in UCSC)
- ENST00000535379 705 nts (view in UCSC)
- ENST00000535509 727 nts (view in UCSC)
- ENST00000535700 572 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ZBTB16 - Starting at $85 >
- * ZBTB16 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ZBTB16
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ZBTB16
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZBTB16
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ZBTB16
- Browse OriGene Inhibitory RNA Products For ZBTB16
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZBTB16
Clone products for research
- Applied Biological Materials (abm): Clones for ZBTB16 - Starting at $45 >
- * ZBTB16 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ZBTB16
- Addgene plasmids for ZBTB16
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ZBTB16
| 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 embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Adipose (Muscoskeletal System)
- Bone (Muscoskeletal System)
- Neural Tube (Nervous System)
- Cartilage (Muscoskeletal System)
-
Testis (Reproductive System)
- Spermatogonial Stem Cells Seminiferous Tubules
- Spermatogonium Type A Seminiferous Tubules
-
Gonad
- Spermatogonial Stem Cells Seminiferous Tubules
- Spermatogonium Type A Seminiferous Tubules
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
-
Blood (Hematopoietic System)
- Natural Killer Cells Peripheral Blood
-
Peripheral Nervous System (Nervous System)
- Schwann Precursor Cells Peripheral Nerve Domain
-
Eye (Sensory Organs)
- Type1 Off Cone Bipolar Cells Inner Nuclear Layer
-
Neurons
- Type1 Off Cone Bipolar Cells Inner Nuclear Layer
- Thymus (Hematopoietic System)
- Neural Ectoderm (Nervous System)
- Lung (Respiratory System)
-
Prostate (Endocrine System)
-
Spleen (Hematopoietic System)
-
Ovary (Reproductive System)
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.591945mRNA 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
- Nervous system(4.5)
- Heart(4.5)
- Liver(3)
- Spleen(2.8)
- Blood(2.8)
- Muscle(2.7)
- Kidney(2.5)
- Lung(2.5)
- Intestine(2.5)
- Lymph node(2.3)
- Bone marrow(2.3)
- Thyroid gland(2.1)
- Pancreas(2.1)
- Skin(2)
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
Primer products for research
-
OriGene qPCR primer pairs for ZBTB16
-
OriGene qPCR primer pairs and template standards for ZBTB16
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ZBTB16 31 |
|
OneToOne | |
| Chimpanzee (Pan troglodytes) |
Mammalia | ZBTB16 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ZBTB16 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ZBTB16 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ZBTB16 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Zbtb16 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Zbtb16 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ZBTB16 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ZBTB16 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | zbtb16 30 |
|
||
| Str.9134 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | zbtb16a 30 31 |
|
OneToMany | |
| zbtb16b 31 |
|
OneToMany | |||
| wufb93g12 30 |
|
- Species where no ortholog for ZBTB16 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Paralogs for ZBTB16 Gene
- ZBTB32 5
- ZBTB18 5
- HIC2 5
- ZBTB42 5
- ZBTB7C 5
- PATZ1 5
- HIC1 5
- ZBTB1 5
- ZNF143 5
- ZBTB20 5
- PRDM10 5
- ZNF76 5
- PRDM14 5
- ZNF362 5
- PRDM1 5
- ZNF384 5
- ZNF451 5
- ZNF410 5
- PRDM6 5
- ZNF276 5
- ZNF692 5
- ZNF653 5
- MAZ 5
- ZFP91 5
- ZFP91-CNTF 5
- MTF1 5
- ZNF575 5
- ZNF296 5
- ZNF281 5
- SCRT2 5
- SNAI1 5
- SNAI2 5
- SNAI3 5
- VEZF1 5
- ZBTB45 5
- SCRT1 5
- ZNF148 5
- ENSG00000267477 5
(35) SIMAP similar genes for ZBTB16 Gene using alignment to 4 proteins:
- ZBT16_HUMAN
- F5H5Y7_HUMAN
- F5H6C3_HUMAN
- H0YGW2_HUMAN
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 |
|---|---|---|---|---|---|
| rs113757018 | Benign: not provided | 114,064,305(+) |
C/T NM_006006.6(ZBTB16):c.1005C>T (p.Ser335=) |
SYNONYMOUS | |
| rs116066082 | Benign: not provided | 114,064,548(+) |
C/T NM_006006.6(ZBTB16):c.1248C>T (p.Asn416=) |
SYNONYMOUS | |
| rs121434606 | Pathogenic: Skeletal defects, genital hypoplasia, and mental retardation. Skeletal defects, genital hypoplasia, and mental retardation (SGYMR) [MIM:612447] | 114,250,382(+) |
A/Gp.Met617Val NM_006006.6(ZBTB16):c.1849A>G (p.Met617Val) |
MISSENSE | |
| rs1338681719 | Likely Benign: not provided | 114,064,056(+) |
C/T NM_006006.6(ZBTB16):c.756C>T (p.Pro252=) |
SYNONYMOUS | |
| rs138594849 | Likely Benign: not provided | 114,064,476(+) |
T/C NM_006006.6(ZBTB16):c.1176T>C (p.Ala392=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB16 Gene
Disorders for ZBTB16 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| skeletal defects, genital hypoplasia, and mental retardation |
|
|
| acute promyelocytic leukemia |
|
|
| precursor t-cell acute lymphoblastic leukemia |
|
|
| leukemia |
|
|
| fanconi anemia, complementation group a |
|
|
Search ZBTB16 in MalaCards
View complete list of genes associated with diseases
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 variants 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
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for ZBTB16 Gene
Publications for ZBTB16 Gene
- Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia. (PMID: 18611983) Fischer S … Wieczorek D (Journal of medical genetics 2008) 3 4 74
- Genomic sequence, structural organization, molecular evolution, and aberrant rearrangement of promyelocytic leukemia zinc finger gene. (PMID: 10500192) Zhang T … Chen SJ (Proceedings of the National Academy of Sciences of the United States of America 1999) 3 4 23
- Rearrangements of the retinoic acid receptor alpha and promyelocytic leukemia zinc finger genes resulting from t(11;17)(q23;q21) in a patient with acute promyelocytic leukemia. (PMID: 8387545) Chen SJ … Chen Z (The Journal of clinical investigation 1993) 3 4 23
- Fusion between a novel Krüppel-like zinc finger gene and the retinoic acid receptor-alpha locus due to a variant t(11;17) translocation associated with acute promyelocytic leukaemia. (PMID: 8384553) Chen Z … Zelent A (The EMBO journal 1993) 3 4 23
- Analysis of the interaction between Zinc finger protein 179 (Znf179) and promyelocytic leukemia zinc finger (Plzf). (PMID: 24359566) Lin DY … Lee YC (Journal of biomedical science 2013) 3 4
ExternalLinks
Products for ZBTB16 Gene
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Sources for ZBTB16 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
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