ANKMY2: Ankyrin Repeat and MYND Domain Containing 2
A zinc-finger protein implicated in transcriptional regulation and potential roles in cancer and developmental disorders.
Gene Information Card
| Symbol | ANKMY2 |
|---|---|
| Full Name | Ankyrin Repeat and MYND Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.1 |
| NCBI Gene ID | 57037 ncbi.nlm.nih.gov/gene/57037 |
| Ensembl ID | ENSG00000106511 |
| UniProt ID | Q8IV38 |
| OMIM ID | 617808 |
| HGNC ID | 28597 |
| Aliases | FLJ10707, ZMYND20 |
Description
ANKMY2 (Ankyrin Repeat and MYND Domain Containing 2) is a protein-coding gene located on chromosome 7p22.1. The encoded protein contains ankyrin repeats and a MYND-type zinc finger domain, suggesting a role in protein-protein interactions and transcriptional regulation. ANKMY2 is ubiquitously expressed but shows elevated levels in testis and certain immune cells. Its function is not fully characterized, but it may be involved in chromatin remodeling and signal transduction. Alterations in ANKMY2 expression have been observed in several cancers, and rare variants have been reported in neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder | Rare missense variants may disrupt protein function; exact mechanism unknown | ClinVar (ID: 617808) |
| Prostate cancer | Overexpression observed; potential role in cell proliferation | COSMIC (gene analysis) |
| Colorectal cancer | Differential expression; possible involvement in Wnt signaling | COSMIC (gene analysis) |
| Breast cancer | Altered expression levels; correlation with poor prognosis | COSMIC (gene analysis) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Bone marrow | 10.3 | Medium |
| Brain | 4.1 | Low |
| Heart | 3.8 | Low |
| Liver | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.6 | High expression |
| K562 | 14.2 | Moderate expression |
| HeLa | 12.1 | Moderate expression |
| A549 | 9.8 | Low expression |
| MCF7 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; reported in ClinVar as VUS |
| c.205G>A (p.Glu69Lys) | Missense | <0.01% | Unknown; reported in ClinVar as VUS |
| c.412_413insA | Frameshift | <0.01% | Likely loss of function; reported in COSMIC |
| c.568C>T (p.Arg190Trp) | Missense | <0.01% | Unknown; reported in ClinVar as VUS |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.412_413insA) are predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ANKMY2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ANKMY2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 - protein binding | • GO:0005634 - nucleus |
| • GO:0008270 - zinc ion binding | • GO:0046872 - metal ion binding |
| • GO:0003676 - nucleic acid binding |
Pathways
• Not assigned to any canonical pathway in Reactome or KEGG.
Protein Summary
The ANKMY2 protein (UniProt Q8IV38) is 366 amino acids long and contains two ankyrin repeat domains and a MYND-type zinc finger domain. Ankyrin repeats mediate protein-protein interactions, while the MYND domain is a zinc-binding motif often found in transcriptional regulators. The protein localizes to the nucleus and may function as a transcriptional cofactor. Its exact biological role remains under investigation, but it is thought to be involved in chromatin dynamics and cell cycle control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANKMY2 Knockout HEK293 Cell Line | EDJ-KQ12350 | Human | 57037 | Details Get a Quote |
| ANKMY2 Knockout HeLa Cell Line | EDJ-KQ39945 | Human | 57037 | Details Get a Quote |
| ANKMY2 Knockout A-549 Cell Line | EDJ-KQ41202 | Human | 57037 | Details Get a Quote |
| ANKMY2 Knockout HCT 116 Cell Line | EDJ-KQ41203 | Human | 57037 | Details Get a Quote |
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