MKRN2: Makorin Ring Finger Protein 2
A zinc finger protein involved in ubiquitination and potential tumor suppression
Gene Information Card
| Symbol | MKRN2 |
|---|---|
| Full Name | Makorin Ring Finger Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 23609 ncbi.nlm.nih.gov/gene/23609 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q9H000 |
| OMIM ID | 605325 |
| HGNC ID | 7112 |
| Aliases | RNF62, C3HCH, MGC138207 |
Description
MKRN2 encodes a member of the makorin family of zinc finger proteins. The protein contains a RING finger domain, which is characteristic of E3 ubiquitin ligases, and multiple C3H zinc finger motifs. MKRN2 is involved in protein ubiquitination and may play a role in cellular signaling, development, and tumor suppression. It is widely expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Potential tumor suppressor; loss of expression may promote oncogenesis | PMID: 25636840 |
| Breast cancer | Altered expression linked to poor prognosis; possible role in cell proliferation | PMID: 29187735 |
| Neurodevelopmental disorders | Rare variants reported in patients with intellectual disability | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| MCF7 | 6.5 | Breast cancer cells |
| PC3 | 4.1 | Prostate cancer cells |
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; rare population variant |
| c.832G>A (p.Glu278Lys) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
| c.1054_1055del (p.Leu352fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause loss of E3 ubiquitin ligase activity.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • zinc ion binding |
| • protein ubiquitination | • nucleus |
| • cytoplasm |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
MKRN2 is a 482-amino acid protein containing a RING-type zinc finger domain (E3 ubiquitin ligase) and three C3H zinc fingers. It localizes to the nucleus and cytoplasm and mediates ubiquitination of target proteins, potentially regulating cell growth and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MKRN2 Knockout HEK293 Cell Line | EDJ-KQ8096 | Human | 23609 | Details Get a Quote |
| MKRN2OS Knockout HEK293 Cell Line | EDJ-KQ14271 | Human | 100129480 | Details Get a Quote |
| MKRN2 Knockout A-549 Cell Line | EDJ-KQ33958 | Human | 23609 | Details Get a Quote |
| MKRN2 Knockout HCT 116 Cell Line | EDJ-KQ33959 | Human | 23609 | Details Get a Quote |
| MKRN2 Knockout HeLa Cell Line | EDJ-KQ33960 | Human | 23609 | Details Get a Quote |
| MKRN2OS Knockout HCT 116 Cell Line | EDJ-KQ44296 | Human | 100129480 | Details Get a Quote |
| MKRN2OS Knockout HeLa Cell Line | EDJ-KQ60796 | Human | 100129480 | Details Get a Quote |
| MKRN2OS Knockout A-549 Cell Line | EDJ-KQ69265 | Human | 100129480 | Details Get a Quote |
