ANKRD34C Gene - Ankyrin Repeat Domain 34C
Comprehensive genomic and functional annotation of ANKRD34C
Gene Information Card
| Symbol | ANKRD34C |
|---|---|
| Full Name | Ankyrin Repeat Domain 34C |
| Gene Type | Protein coding |
| Chromosomal Location | 15q25.2 |
| NCBI Gene ID | 100131801 ncbi.nlm.nih.gov/gene/100131801 |
| Ensembl ID | ENSG00000205643 |
| UniProt ID | Q6ZR37 |
| OMIM ID | Not assigned |
| HGNC ID | 37247 |
| Aliases | ANKRD34C, MGC16384 |
Description
ANKRD34C (Ankyrin Repeat Domain 34C) is a protein-coding gene located on chromosome 15q25.2. The encoded protein contains ankyrin repeat domains, which are typically involved in protein-protein interactions. The specific biological function of ANKRD34C is not fully characterized, but it is predicted to play a role in cellular signaling or structural organization. Expression data suggest low to moderate levels in certain tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Brain | 1.5 | Low |
| Lung | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.5 | Low expression |
| K562 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated 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：
Protein Summary
The ANKRD34C protein (UniProt Q6ZR37) contains ankyrin repeat domains, which are common motifs mediating protein-protein interactions. The full-length protein is predicted to be intracellular, but its specific molecular function and cellular role remain uncharacterized. No structural or functional studies have been published.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD34C Knockout HEK293 Cell Line | EDJ-KQ12364 | Human | 390616 | Details Get a Quote |
| ANKRD34C Knockout HeLa Cell Line | EDJ-KQ60185 | Human | 390616 | Details Get a Quote |
| ANKRD34C Knockout A-549 Cell Line | EDJ-KQ68647 | Human | 390616 | Details Get a Quote |
| ANKRD34C Knockout HCT 116 Cell Line | EDJ-KQ77015 | Human | 390616 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
