ANKRD23
Ankyrin Repeat Domain 23
Gene Information Card
| Symbol | ANKRD23 |
|---|---|
| Full Name | Ankyrin Repeat Domain 23 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 200539 ncbi.nlm.nih.gov/gene/200539 |
| Ensembl ID | ENSG00000163069 |
| UniProt ID | Q86Y27 |
| OMIM ID | 610859 |
| HGNC ID | 28997 |
| Aliases | DARP |
Description
ANKRD23 (ankyrin repeat domain 23), also known as DARP (diabetes and obesity regulated protein), is a protein-coding gene located on chromosome 2q11.2. It encodes a protein containing ankyrin repeats, which mediate protein-protein interactions. ANKRD23 is expressed in cardiac and skeletal muscle and is implicated in metabolic regulation, including diabetes and obesity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Regulation of energy metabolism; altered expression in adipose tissue | PMID: 19057513 |
| Type 2 Diabetes | Potential role in insulin sensitivity and glucose metabolism | PMID: 19057513 |
| Cardiac Hypertrophy | Modulation of cardiac stress responses | PMID: 20081226 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 9.8 | Medium |
| Adipose Tissue | 4.2 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 15.3 | High expression |
| Skeletal muscle myoblasts | 10.1 | Moderate expression |
| Adipocytes | 5.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | <0.01% | Unknown functional impact |
| c.568G>A (p.Val190Ile) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：ClinVar: https://www.clinvar.com/gene/200539 COSMIC: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=ANKRD23
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005737 (cytoplasm) |
| • GO:0005634 (nucleus) | • GO:0042802 (identical protein binding) |
Pathways
• PI3K-Akt signaling pathway (Reactome: R-HSA-1257604)
• Cardiac muscle contraction (Reactome: R-HSA-5576891)
Protein Summary
The ANKRD23 protein contains ankyrin repeats that facilitate protein-protein interactions. It is localized in the cytoplasm and nucleus, and is involved in cellular signaling pathways including PI3K-Akt. Expression is enriched in cardiac and skeletal muscle, with roles in metabolic regulation and stress responses.
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD23 Knockout HEK293 Cell Line | EDJ-KQ3469 | Human | 200539 | Details Get a Quote |
| ANKRD23 Knockout HCT 116 Cell Line | EDJ-KQ23849 | Human | 200539 | Details Get a Quote |
| ANKRD23 Knockout A-549 Cell Line | EDJ-KQ25228 | Human | 200539 | Details Get a Quote |
| ANKRD23 Knockout HeLa Cell Line | EDJ-KQ25230 | Human | 200539 | Details Get a Quote |
| Ankrd23 Knockout H9c2(2-1) Cell Line | EDJ-KZ540 | Rat | 200539 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
