ANKRD31
Ankyrin Repeat Domain 31
Gene Information Card
| Symbol | ANKRD31 |
|---|---|
| Full Name | Ankyrin Repeat Domain 31 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 256006 ncbi.nlm.nih.gov/gene/256006 |
| Ensembl ID | ENSG00000185010 |
| UniProt ID | Q8N7Z5 |
| OMIM ID | 617507 |
| HGNC ID | 26709 |
| Aliases | FLJ32709, MGC138290 |
Description
ANKRD31 encodes a protein containing ankyrin repeats, which are common motifs involved in protein-protein interactions. The gene is located on chromosome 5q13.2 and is expressed in various tissues. Its precise biological function is not fully characterized, but it may play a role in cellular signaling or structural organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.8 | Low |
| Brain | 3.2 | Low |
| Lung | 2.1 | Low |
| Liver | 1.5 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.5 | Low expression |
| HeLa | 1.9 | Low expression |
| K562 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not documented
Gain of Function (GOF)
Not documented
Dominant Negative (DN)
Not documented
View complete mutation data：
Protein Summary
The ANKRD31 protein contains ankyrin repeat domains, which are typically involved in mediating protein-protein interactions. The full functional significance of this protein remains under investigation, with no established enzymatic or structural role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD31 Knockout HEK293 Cell Line | EDJ-KQ11059 | Human | 256006 | Details Get a Quote |
| ANKRD31 Knockout HeLa Cell Line | EDJ-KQ59290 | Human | 256006 | Details Get a Quote |
| ANKRD31 Knockout A-549 Cell Line | EDJ-KQ67757 | Human | 256006 | Details Get a Quote |
| ANKRD31 Knockout HCT 116 Cell Line | EDJ-KQ76141 | Human | 256006 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
