ANKDD1B Gene - Ankyrin Repeat and Death Domain Containing 1B
Comprehensive genomic and functional analysis of ANKDD1B, a protein-coding gene with potential roles in cellular signaling and disease.
Gene Information Card
| Symbol | ANKDD1B |
|---|---|
| Full Name | ankyrin repeat and death domain containing 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 163782 ncbi.nlm.nih.gov/gene/163782 |
| Ensembl ID | ENSG00000164327 |
| UniProt ID | Q8N6H7 |
| OMIM ID | 617829 |
| HGNC ID | 26776 |
| Aliases | FLJ25333, MGC16384 |
Description
ANKDD1B (ankyrin repeat and death domain containing 1B) is a protein-coding gene located on chromosome 5q13.2. The encoded protein contains ankyrin repeats and a death domain, suggesting involvement in protein-protein interactions and apoptotic signaling pathways. Its precise biological function remains under investigation, but it may play roles in cellular stress responses and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.1 | Low |
| Heart | 1.5 | Low |
| Liver | 0.8 | Not detected |
| Kidney | 1.2 | Low |
| Testis | 3.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.8 | Low expression |
| HeLa | 2.0 | Low expression |
| K562 | 0.5 | 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 available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005737 (cytoplasm) |
| • GO:0006915 (apoptotic process) |
Pathways
• No curated pathway associations
Protein Summary
The ANKDD1B protein (UniProt Q8N6H7) contains ankyrin repeats and a death domain, indicative of roles in protein-protein interactions and signal transduction. It is predicted to localize to the cytoplasm and may participate in apoptotic pathways. Functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKDD1B Knockout HEK293 Cell Line | EDJ-KQ12346 | Human | 728780 | Details Get a Quote |
| ANKDD1B Knockout HCT 116 Cell Line | EDJ-KQ39938 | Human | 728780 | Details Get a Quote |
| ANKDD1B Knockout HeLa Cell Line | EDJ-KQ60724 | Human | 728780 | Details Get a Quote |
| ANKDD1B Knockout A-549 Cell Line | EDJ-KQ69193 | Human | 728780 | Details Get a Quote |
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