ANKRD33B Gene - Ankyrin Repeat Domain 33B
Comprehensive genomic and functional analysis of ANKRD33B
Gene Information Card
| Symbol | ANKRD33B |
|---|---|
| Full Name | Ankyrin Repeat Domain 33B |
| Gene Type | Protein coding |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 100130894 ncbi.nlm.nih.gov/gene/100130894 |
| Ensembl ID | ENSG00000205642 |
| UniProt ID | Q6ZP29 |
| OMIM ID | Not available |
| HGNC ID | HGNC:37297 |
| Aliases | FLJ32743, MGC16384 |
Description
ANKRD33B (Ankyrin Repeat Domain 33B) is a protein-coding gene located on chromosome 5q13.2. The encoded protein contains ankyrin repeat domains, which are typically involved in protein-protein interactions. The function of ANKRD33B is not fully characterized, but it may play a role in cellular signaling or structural organization. Expression data suggest low to moderate levels in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Potential involvement in tumor progression; expression changes observed in cancer cell lines. | COSMIC |
| Ovarian Cancer | Altered expression in ovarian cancer tissues; possible role in oncogenesis. | COSMIC |
| Colorectal Cancer | Mutations and expression changes reported in colorectal cancer samples. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.0 | Low |
| Brain | 1.5 | Low |
| Kidney | 1.2 | Low |
| Liver | 0.8 | Not detected |
| Thyroid | 8.4 | Medium |
| Adrenal Gland | 7.9 | Medium |
| Kidney | 5.2 | Low |
| Liver | 4.1 | Low |
| Brain | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.0 | Low expression |
| HeLa | 0.5 | Very low |
| K562 | 0.3 | Very low |
| MCF7 (Breast) | 6.5 | Moderate expression |
| A549 (Lung) | 3.2 | Low expression |
| HepG2 (Liver) | 4.8 | Low expression |
| K562 (Leukemia) | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.456C>T (p.S152F) | Missense | 0.005% (gnomAD) | Unknown; predicted damaging |
| c.789_790insA (p.K264fs) | Frameshift | Rare | Loss of function; potential disease association |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons likely result in loss of protein function, potentially contributing to disease phenotypes.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported for ANKRD33B.
Dominant Negative (DN)
No evidence of dominant-negative effects; most mutations are recessive or haploinsufficient.
View complete mutation data：
Protein Summary
The ANKRD33B protein (UniProt Q6ZP29) contains ankyrin repeat domains, which mediate protein-protein interactions. Its specific biological function remains unclear, but it may be involved in cellular processes such as signal transduction or cytoskeletal organization. No structural or functional studies have been published to date.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD33B Knockout HEK293 Cell Line | EDJ-KQ11612 | Human | 651746 | 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 |
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