ANKRD12
Ankyrin Repeat Domain 12
Gene Information Card
| Symbol | ANKRD12 |
|---|---|
| Full Name | Ankyrin Repeat Domain 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 18p11.22 |
| NCBI Gene ID | 23223 ncbi.nlm.nih.gov/gene/23223 |
| Ensembl ID | ENSG00000134371 |
| UniProt ID | Q6ZVN8 |
| OMIM ID | 614688 |
| HGNC ID | 21352 |
| Aliases | FLJ10884, KIAA0874, MGC138290 |
Description
ANKRD12 (ankyrin repeat domain 12) is a protein-coding gene located on chromosome 18p11.22. It encodes a protein containing multiple ankyrin repeats, which are common motifs involved in protein-protein interactions. ANKRD12 is thought to play a role in transcriptional regulation and may be involved in cell cycle control. Expression data indicate broad tissue distribution with highest levels in testis and brain. Alterations in ANKRD12 have been reported in various cancers, suggesting a potential role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression; potential tumor suppressor or oncogene depending on context | COSMIC; literature |
| Colorectal cancer | Mutations and copy number alterations observed | COSMIC; literature |
| Lung cancer | Somatic mutations reported | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 5.1 | Low |
| Breast | 4.7 | Low |
| Colon | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney |
| HeLa | 7.8 | Cervical carcinoma |
| A549 | 6.1 | Lung carcinoma |
| MCF7 | 5.4 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% (COSMIC) | p.Arg412Cys; uncertain significance |
| c.567delA | Frameshift | <0.01% | Predicted loss of function |
| c.890G>A | Nonsense | <0.01% | p.Trp297*; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function through premature truncation.
Gain of Function (GOF)
No clear gain-of-function mutations have been characterized.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ankyrin repeat binding |
| • nucleus | • cytoplasm |
| • transcription regulator activity |
Pathways
• Not assigned to any specific KEGG or Reactome pathway
Protein Summary
The ANKRD12 protein contains multiple ankyrin repeat domains, which mediate protein-protein interactions. It localizes to the nucleus and cytoplasm and is implicated in transcriptional regulation. The exact molecular function remains under investigation, but it may influence cell proliferation and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD12 Knockout HEK293 Cell Line | EDJ-KQ7923 | Human | 23253 | Details Get a Quote |
| ANKRD12 Knockout A-549 Cell Line | EDJ-KQ32226 | Human | 23253 | Details Get a Quote |
| ANKRD12 Knockout HCT 116 Cell Line | EDJ-KQ33557 | Human | 23253 | Details Get a Quote |
| ANKRD12 Knockout HeLa Cell Line | EDJ-KQ33558 | Human | 23253 | Details Get a Quote |
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