ANKRD13C Gene
Ankyrin Repeat Domain 13C
Gene Information Card
| Symbol | ANKRD13C |
|---|---|
| Full Name | Ankyrin Repeat Domain 13C |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 81573 ncbi.nlm.nih.gov/gene/81573 |
| Ensembl ID | ENSG00000118454 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 615123 |
| HGNC ID | 29072 |
| Aliases | DKFZp686O24114, FLJ32709, MGC138290 |
Description
ANKRD13C (Ankyrin Repeat Domain 13C) is a protein-coding gene located on chromosome 1p31.1. It encodes a protein containing ankyrin repeats, which are common motifs involved in protein-protein interactions. The gene is expressed in various tissues and may play a role in cellular signaling and regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not applicable | No evidence in ClinVar or OMIM |
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 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005737 (cytoplasm) |
Pathways
• No curated pathways in Reactome or KEGG
Protein Summary
The ANKRD13C protein (UniProt Q8N6T3) contains ankyrin repeat domains, which mediate protein-protein interactions. Its exact biological function is not fully characterized, but it is predicted to be involved in intracellular signaling and localization. Expression is observed in multiple tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD13C Knockout HEK293 Cell Line | EDJ-KQ9721 | Human | 81573 | Details Get a Quote |
| ANKRD13C Knockout A-549 Cell Line | EDJ-KQ36530 | Human | 81573 | Details Get a Quote |
| ANKRD13C Knockout HCT 116 Cell Line | EDJ-KQ36531 | Human | 81573 | Details Get a Quote |
| ANKRD13C Knockout HeLa Cell Line | EDJ-KQ36532 | Human | 81573 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
