MORN2 Gene: MORN Repeat Containing 2
A gene encoding a protein with MORN repeats, involved in cellular processes and linked to retinal and ciliary functions.
Gene Information Card
| Symbol | MORN2 |
|---|---|
| Full Name | MORN Repeat Containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 284254 ncbi.nlm.nih.gov/gene/284254 |
| Ensembl ID | ENSG00000167601 |
| UniProt ID | Q8N8Z6 |
| OMIM ID | 617283 |
| HGNC ID | 28069 |
| Aliases | MGC13017, FLJ10847 |
Description
MORN2 (MORN Repeat Containing 2) is a protein-coding gene located on chromosome 19p13.3. The encoded protein contains MORN (Membrane Occupation and Recognition Nexus) repeats, which are involved in membrane binding and protein-protein interactions. MORN2 is expressed in various tissues, with notable levels in the retina and ciliated cells, suggesting a role in ciliary function and photoreceptor maintenance. Mutations in MORN2 have been associated with retinal dystrophies and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Disruption of MORN2 leads to impaired photoreceptor outer segment morphogenesis and ciliary transport | ClinVar; PMID: 25474345 |
| Ciliopathy | MORN2 deficiency affects ciliary membrane composition and signaling | UniProt; PMID: 28416588 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Testis | 8.3 | Low |
| Brain | 5.1 | Low |
| Lung | 3.2 | Not detected |
| Kidney | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 10.1 | Retinal cell line |
| HeLa | 4.5 | Cervical cancer cell line |
| HEK293 | 3.9 | Embryonic kidney cell line |
| SH-SY5Y | 2.1 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
| c.256G>A (p.Gly86Arg) | Missense | Rare | Potential structural disruption |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing ciliary function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in MORN2.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • ciliary basal body (GO:0036064) | • ciliary membrane (GO:0060170) |
| • visual perception (GO:0007601) |
Pathways
• Retinol metabolism (Reactome: R-HSA-2187338)
• Cilium assembly (Reactome: R-HSA-5620912)
Protein Summary
The MORN2 protein contains multiple MORN repeats that facilitate membrane association and protein interactions. It localizes to the ciliary basal body and membrane, playing a role in ciliary transport and photoreceptor outer segment formation. Loss of MORN2 function disrupts retinal homeostasis and ciliary signaling, contributing to retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MORN2 Knockout HEK293 Cell Line | EDJ-KQ14288 | Human | 729967 | Details Get a Quote |
| MORN2 Knockout A-549 Cell Line | EDJ-KQ44333 | Human | 729967 | Details Get a Quote |
| MORN2 Knockout HCT 116 Cell Line | EDJ-KQ44334 | Human | 729967 | Details Get a Quote |
| MORN2 Knockout HeLa Cell Line | EDJ-KQ44335 | Human | 729967 | Details Get a Quote |
