ANKRD28
Ankyrin Repeat Domain 28: A Scaffold Protein in Cell Signaling and Cancer
Gene Information Card
| Symbol | ANKRD28 |
|---|---|
| Full Name | Ankyrin Repeat Domain 28 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 23243 ncbi.nlm.nih.gov/gene/23243 |
| Ensembl ID | ENSG00000164007 |
| UniProt ID | Q15084 |
| OMIM ID | 615012 |
| HGNC ID | 29024 |
| Aliases | PP6R3, SAPS3, FLJ20097 |
Description
ANKRD28 encodes a regulatory subunit of protein phosphatase 6 (PP6), a serine/threonine phosphatase involved in cell cycle control, DNA damage response, and NF-κB signaling. The protein contains multiple ankyrin repeats that mediate protein-protein interactions and scaffold assembly. ANKRD28 is ubiquitously expressed and has been implicated in cancer progression and immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression of ANKRD28 may disrupt PP6-mediated dephosphorylation of DNA damage checkpoint proteins, promoting genomic instability. | ClinVar, COSMIC |
| Colorectal cancer | Somatic mutations in ANKRD28 are found in colorectal tumors; loss of PP6 regulation may enhance NF-κB signaling. | COSMIC |
| Lung cancer | Copy number alterations and expression changes in ANKRD28 are observed in lung adenocarcinoma. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | Medium |
| Thyroid | 22.1 | Medium |
| Adrenal gland | 19.8 | Medium |
| Lymph node | 18.3 | Medium |
| Brain | 15.2 | Medium |
| Liver | 12.7 | Low |
| Heart | 10.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.0 | Embryonic kidney; high expression |
| HeLa | 22.3 | Cervical carcinoma; moderate expression |
| A549 | 18.7 | Lung carcinoma; moderate expression |
| MCF7 | 15.1 | Breast carcinoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncation of C-terminal domain |
| c.789_790insA (p.Glu264fs) | Frameshift | <0.01% | Loss of function; premature stop codon |
| c.1567G>A (p.Glu523Lys) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ANKRD28 are predicted to cause loss of PP6 regulatory function, impairing DNA damage repair and cell cycle control.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ANKRD28.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ANKRD28.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000159 – protein phosphatase type 2A complex | • GO:0005515 – protein binding |
| • GO:0007165 – signal transduction | • GO:0008283 – cell population proliferation |
| • GO:0019900 – kinase binding | • GO:0030163 – protein catabolic process |
| • GO:0043161 – proteasome-mediated ubiquitin-dependent protein catabolic process |
Pathways
• Protein phosphatase 6 (PP6) signaling
• DNA damage response
• NF-κB signaling
• Cell cycle regulation
Protein Summary
ANKRD28 is a 1015-amino acid protein containing multiple ankyrin repeats that function as a scaffold for protein phosphatase 6 (PP6). It recruits PP6 to substrates involved in DNA repair, cell cycle progression, and inflammatory signaling. The protein is widely expressed and its dysregulation is linked to several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKRD28 Knockout HEK293 Cell Line | EDJ-KQ7911 | Human | 23243 | Details Get a Quote |
| ANKRD28 Knockout A-549 Cell Line | EDJ-KQ33533 | Human | 23243 | Details Get a Quote |
| ANKRD28 Knockout HCT 116 Cell Line | EDJ-KQ33534 | Human | 23243 | Details Get a Quote |
| ANKRD28 Knockout HeLa Cell Line | EDJ-KQ33535 | Human | 23243 | Details Get a Quote |
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