ANKRD2
Ankyrin Repeat Domain 2 (Stretch-Responsive Muscle Gene)
Gene Information Card
| Symbol | ANKRD2 |
|---|---|
| Full Name | Ankyrin Repeat Domain 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 26287 ncbi.nlm.nih.gov/gene/26287 |
| Ensembl ID | ENSG00000165806 |
| UniProt ID | Q9GZV1 |
| OMIM ID | 609377 |
| HGNC ID | 15815 |
| Aliases | ARPP, CARP, MGC45871 |
Description
ANKRD2 (ankyrin repeat domain 2) encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. It is primarily expressed in cardiac and skeletal muscle and is induced by mechanical stretch. The protein localizes to the sarcomere and may play a role in muscle differentiation, mechanotransduction, and response to muscle injury.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiac hypertrophy | ANKRD2 expression is upregulated in response to mechanical overload; may modulate hypertrophic signaling | NCBI Gene, OMIM |
| Muscle atrophy | Altered expression observed in denervation and disuse models; potential role in muscle wasting | NCBI Gene |
| Dilated cardiomyopathy | Dysregulation of ANKRD2 in cardiac tissue associated with pathological remodeling | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 25.6 | Medium |
| Skeletal muscle | 18.3 | Medium |
| Testis | 1.2 | Low |
| Lung | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 22.1 | High expression |
| Skeletal muscle myoblasts (C2C12) | 15.4 | Differentiation-dependent |
| HeLa | 0.3 | Negligible |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional impact |
| c.1024G>A (p.Gly342Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005634 (nucleus) |
| • GO:0005737 (cytoplasm) | • GO:0005856 (cytoskeleton) |
| • GO:0016020 (membrane) | • GO:0030016 (myofibril) |
| • GO:0042802 (identical protein binding) | • GO:0045214 (sarcomere organization) |
| • GO:0060048 (cardiac muscle contraction) |
Pathways
• Stretch-induced muscle response
• Cardiac hypertrophy signaling (via NFAT and MAPK pathways)
Protein Summary
The ANKRD2 protein contains multiple ankyrin repeats and is localized to the sarcomere. It interacts with titin and other sarcomeric proteins, participating in mechanosensing and signal transduction. It may translocate to the nucleus to regulate gene expression in response to mechanical stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD23 Knockout HEK293 Cell Line | EDJ-KQ3469 | Human | 200539 | Details Get a Quote |
| ANKRD22 Knockout HEK293 Cell Line | EDJ-KQ3470 | Human | 118932 | Details Get a Quote |
| ANKRD26 Knockout HEK293 Cell Line | EDJ-KQ7694 | Human | 22852 | Details Get a Quote |
| ANKRD28 Knockout HEK293 Cell Line | EDJ-KQ7911 | Human | 23243 | Details Get a Quote |
| ANKRD2 Knockout HEK293 Cell Line | EDJ-KQ8507 | Human | 26287 | Details Get a Quote |
| ANKRD27 Knockout HEK293 Cell Line | EDJ-KQ9974 | Human | 84079 | Details Get a Quote |
| ANKRD29 Knockout HEK293 Cell Line | EDJ-KQ10606 | Human | 147463 | Details Get a Quote |
| ANKRD24 Knockout HEK293 Cell Line | EDJ-KQ12357 | Human | 170961 | Details Get a Quote |
| ANKRD26 Knockout HCT 116 Cell Line | EDJ-KQ33066 | Human | 22852 | Details Get a Quote |
| ANKRD26 Knockout HeLa Cell Line | EDJ-KQ33067 | Human | 22852 | Details Get a Quote |
| ANKRD29 Knockout A-549 Cell Line | EDJ-KQ38090 | Human | 147463 | Details Get a Quote |
| ANKRD29 Knockout HCT 116 Cell Line | EDJ-KQ38091 | Human | 147463 | 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 |
Displaying Records 1 To 15 Of 37 Records
- 1
- 2
- Next Page »
