ANKRD13D Gene - Ankyrin Repeat Domain 13D
Comprehensive genomic and functional analysis of ANKRD13D
Gene Information Card
| Symbol | ANKRD13D |
|---|---|
| Full Name | Ankyrin Repeat Domain 13D |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 338692 ncbi.nlm.nih.gov/gene/338692 |
| Ensembl ID | ENSG00000198720 |
| UniProt ID | Q6ZTN6 |
| OMIM ID | 615937 |
| HGNC ID | 26743 |
| Aliases | FLJ32810, MGC26717 |
Description
ANKRD13D (ankyrin repeat domain 13D) is a protein-coding gene located on chromosome 11q13.2. 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 structural organization. Limited functional data are available; further research is needed to clarify its biological roles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 4.2 | Low |
| Brain | 2.1 | Low |
| Lung | 1.5 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.2 | Low expression |
| HeLa | 0.9 | 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) |
Pathways
• No curated pathways
Protein Summary
The ANKRD13D protein (UniProt Q6ZTN6) contains ankyrin repeat domains, which typically mediate protein-protein interactions. Its exact molecular function remains poorly characterized. Expression data suggest low levels in testis and brain, with minimal detection in other tissues. No disease associations or pathogenic mutations have been reported.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD13D Knockout HEK293 Cell Line | EDJ-KQ12354 | Human | 338692 | Details Get a Quote |
| ANKRD13D Knockout HeLa Cell Line | EDJ-KQ39951 | Human | 338692 | Details Get a Quote |
| ANKRD13D Knockout A-549 Cell Line | EDJ-KQ41208 | Human | 338692 | Details Get a Quote |
| ANKRD13D Knockout HCT 116 Cell Line | EDJ-KQ41209 | Human | 338692 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
