ANKRD33
Ankyrin Repeat Domain 33
Gene Information Card
| Symbol | ANKRD33 |
|---|---|
| Full Name | Ankyrin Repeat Domain 33 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 341405 ncbi.nlm.nih.gov/gene/341405 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8N6G6 |
| OMIM ID | 615889 |
| HGNC ID | 26787 |
| Aliases | FLJ32743, MGC131831 |
Description
ANKRD33 (Ankyrin Repeat Domain 33) is a protein-coding gene located on chromosome 12q13.13. The encoded protein contains ankyrin repeats, which are common motifs involved in protein-protein interactions. The specific biological function of ANKRD33 is not fully characterized, but it is predicted to play a role in cellular signaling or structural organization. Expression data indicate low to moderate levels in several tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Brain | 1.8 | Low |
| Lung | 1.1 | Low |
| Liver | 0.9 | Not detected |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.0 | Low expression |
| HeLa | 1.2 | Low expression |
| K562 | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data：
Protein Summary
The ANKRD33 protein (UniProt Q8N6G6) contains ankyrin repeat domains, which mediate protein-protein interactions. Its exact molecular function and cellular role remain largely unknown, with no established enzymatic or structural activity reported in major databases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD33B Knockout HEK293 Cell Line | EDJ-KQ11612 | Human | 651746 | Details Get a Quote |
| ANKRD33 Knockout HEK293 Cell Line | EDJ-KQ12360 | Human | 341405 | Details Get a Quote |
| ANKRD33B Knockout A-549 Cell Line | EDJ-KQ41213 | Human | 651746 | Details Get a Quote |
| ANKRD33B Knockout HCT 116 Cell Line | EDJ-KQ41214 | Human | 651746 | Details Get a Quote |
| ANKRD33B Knockout HeLa Cell Line | EDJ-KQ41215 | Human | 651746 | Details Get a Quote |
| ANKRD33 Knockout HeLa Cell Line | EDJ-KQ59710 | Human | 341405 | Details Get a Quote |
| ANKRD33 Knockout A-549 Cell Line | EDJ-KQ68183 | Human | 341405 | Details Get a Quote |
| ANKRD33 Knockout HCT 116 Cell Line | EDJ-KQ76558 | Human | 341405 | Details Get a Quote |
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