ANKRD39
Ankyrin Repeat Domain 39
Gene Information Card
| Symbol | ANKRD39 |
|---|---|
| Full Name | Ankyrin Repeat Domain 39 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 51239 ncbi.nlm.nih.gov/gene/51239 |
| Ensembl ID | ENSG00000163026 |
| UniProt ID | Q8N6T3 |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:29034 |
| Aliases | FLJ12529, MGC13125 |
Description
ANKRD39 (Ankyrin Repeat Domain 39) is a protein-coding gene located on chromosome 2q11.2. The encoded protein contains ankyrin repeats, which are common motifs involved in protein-protein interactions. ANKRD39 is expressed in various tissues and may play a role in cellular signaling and transcriptional regulation. 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 | Unknown | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 3.1 | Low |
| Lung | 2.8 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Moderate expression |
| HeLa | 3.5 | Low expression |
| K562 | 2.0 | Low expression |
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) |
Protein Summary
The ANKRD39 protein (UniProt Q8N6T3) contains ankyrin repeat domains, which mediate protein-protein interactions. Its exact function is not well characterized, but it may be involved in transcriptional regulation or signal transduction. Expression data suggest low to moderate levels in several tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD39 Knockout HEK293 Cell Line | EDJ-KQ10998 | Human | 51239 | Details Get a Quote |
| ANKRD39 Knockout A-549 Cell Line | EDJ-KQ38852 | Human | 51239 | Details Get a Quote |
| ANKRD39 Knockout HCT 116 Cell Line | EDJ-KQ38853 | Human | 51239 | Details Get a Quote |
| ANKRD39 Knockout HeLa Cell Line | EDJ-KQ38854 | Human | 51239 | Details Get a Quote |
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