ANKRD42
Ankyrin Repeat Domain 42
Gene Information Card
| Symbol | ANKRD42 |
|---|---|
| Full Name | Ankyrin Repeat Domain 42 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 283821 ncbi.nlm.nih.gov/gene/283821 |
| Ensembl ID | ENSG00000149021 |
| UniProt ID | Q8N8Z0 |
| OMIM ID | 618206 |
| HGNC ID | 26769 |
| Aliases | FLJ32658, MGC16384 |
Description
ANKRD42 (Ankyrin Repeat Domain 42) is a protein-coding gene located on chromosome 11q13.1. It encodes a protein containing ankyrin repeats, which are common motifs mediating protein-protein interactions. The function of ANKRD42 is not fully characterized, but it may play a role in cellular signaling or structural organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 5.4 | Low expression |
| HepG2 | 4.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations characterized.
Gain of Function (GOF)
No gain-of-function mutations characterized.
Dominant Negative (DN)
No dominant-negative mutations characterized.
View complete mutation data：
Protein Summary
The ANKRD42 protein contains ankyrin repeats, which are 33-residue motifs that mediate protein-protein interactions. The specific biological function remains unclear, but it may be involved in cellular processes such as signal transduction or cytoskeletal organization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD42 Knockout HEK293 Cell Line | EDJ-KQ11619 | Human | 338699 | Details Get a Quote |
| ANKRD42 Knockout A-549 Cell Line | EDJ-KQ41225 | Human | 338699 | Details Get a Quote |
| ANKRD42 Knockout HCT 116 Cell Line | EDJ-KQ41227 | Human | 338699 | Details Get a Quote |
| ANKRD42 Knockout HeLa Cell Line | EDJ-KQ41228 | Human | 338699 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
