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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 locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
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 Transcriptional misregulation in cancer and Endometrial cancer. 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.
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 | IBA,IDA | 12802276 |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IDA,NAS | 9294197 |
GO:0003690 | double-stranded DNA binding | IEA | -- |
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 |
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 |
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 | IBA | 21873635 |
GO:0006915 | apoptotic process | NAS | 9294197 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Zinc | Approved, Investigational | Pharma | 1594 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||
SP5: | - |
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 |
|
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 |
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 |
|