ANKRD13A Gene - Ankyrin Repeat Domain 13A
Comprehensive genomic and functional analysis of ANKRD13A
Gene Information Card
| Symbol | ANKRD13A |
|---|---|
| Full Name | Ankyrin Repeat Domain 13A |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 8844 ncbi.nlm.nih.gov/gene/8844 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 615938 |
| HGNC ID | 29077 |
| Aliases | ANKRD13, FLJ10842, MGC138290 |
Description
ANKRD13A (ankyrin repeat domain 13A) is a protein-coding gene located on chromosome 12q24.31. 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 roles in cellular signaling and development. Limited functional data are available; further research is needed to elucidate its precise biological roles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.1 | Low |
| Liver | 2.8 | Low |
| Kidney | 4.0 | Low |
| Testis | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Low expression |
| HeLa | 3.2 | Low expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in ANKRD13A.
Gain of Function (GOF)
No documented gain-of-function mutations in ANKRD13A.
Dominant Negative (DN)
No documented dominant-negative mutations in ANKRD13A.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) |
Pathways
• No curated pathways available
Protein Summary
The ANKRD13A protein contains ankyrin repeat domains, which mediate protein-protein interactions. Its exact cellular function remains largely uncharacterized, but it may be involved in signal transduction or developmental processes. Expression data suggest low to moderate levels across tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD13A Knockout HEK293 Cell Line | EDJ-KQ10455 | Human | 88455 | Details Get a Quote |
| ANKRD13A Knockout HeLa Cell Line | EDJ-KQ36555 | Human | 88455 | Details Get a Quote |
| ANKRD13A Knockout A-549 Cell Line | EDJ-KQ37841 | Human | 88455 | Details Get a Quote |
| ANKRD13A Knockout HCT 116 Cell Line | EDJ-KQ37842 | Human | 88455 | Details Get a Quote |
