ZBTB12
Zinc Finger and BTB Domain Containing 12
Gene Information Card
| Symbol | ZBTB12 |
|---|---|
| Full Name | zinc finger and BTB domain containing 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 221527 ncbi.nlm.nih.gov/gene/221527 |
| Ensembl ID | ENSG00000198417 |
| UniProt ID | Q9Y2Y4 |
| OMIM ID | 614642 |
| HGNC ID | 29090 |
| Aliases | MGC13017, ZNF-B, ZNFB |
Description
ZBTB12 is a protein-coding gene that encodes a zinc finger protein with a BTB (broad-complex, tramtrack, and bric-a-brac) domain. The BTB domain mediates protein-protein interactions and transcriptional regulation. ZBTB12 is involved in chromatin remodeling and gene expression control. It is located in the major histocompatibility complex (MHC) region on chromosome 6p21.33.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Lymph node | 3.8 | Low |
| Spleen | 3.1 | Low |
| Bone marrow | 2.9 | Low |
| Other tissues | <2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 4.5 | Low expression |
| HeLa | 3.2 | Low expression |
| HEK293 | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported mutations | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • protein homodimerization activity |
| • chromatin binding | • regulation of transcription by RNA polymerase II |
| • nucleus |
Pathways
• No curated pathways
Protein Summary
ZBTB12 is a 584-amino acid protein containing an N-terminal BTB domain and multiple C2H2-type zinc finger motifs. It localizes to the nucleus and likely functions as a transcription factor. The BTB domain facilitates dimerization and interaction with co-repressors. Expression is low across most tissues, with highest levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZBTB12 Knockout HEK293 Cell Line | EDJ-KQ8845 | Human | 221527 | Details Get a Quote |
| ZBTB12 Knockout A-549 Cell Line | EDJ-KQ35155 | Human | 221527 | Details Get a Quote |
| ZBTB12 Knockout HCT 116 Cell Line | EDJ-KQ35156 | Human | 221527 | Details Get a Quote |
| ZBTB12 Knockout HeLa Cell Line | EDJ-KQ35157 | Human | 221527 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
