MORN4 Gene: MORN Repeat Containing 4
A gene encoding a protein with MORN repeats, involved in cellular processes and linked to ciliopathy phenotypes.
Gene Information Card
| Symbol | MORN4 |
|---|---|
| Full Name | MORN repeat containing 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.33 |
| NCBI Gene ID | 118812 ncbi.nlm.nih.gov/gene/118812 |
| Ensembl ID | ENSG00000148700 |
| UniProt ID | Q8N3R9 |
| OMIM ID | 617200 |
| HGNC ID | 25278 |
| Aliases | FLJ12505, MGC138290, MGC138292 |
Description
MORN4 (MORN repeat containing 4) is a protein-coding gene located on chromosome 10q24.33. The encoded protein contains multiple MORN (Membrane Occupation and Recognition Nexus) repeats, which are implicated in membrane binding and protein-protein interactions. MORN4 is broadly expressed in human tissues and has been associated with ciliary function; mutations in MORN4 are linked to retinal ciliopathy phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Loss-of-function mutations in MORN4 disrupt ciliary protein trafficking, leading to photoreceptor degeneration. | ClinVar, OMIM |
| Ciliopathy (general) | MORN4 protein localizes to the basal body and ciliary axoneme; defects impair ciliary signaling. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Retina | 15.3 | High |
| Kidney | 6.1 | Low |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | RNA-seq from GTEx |
| HeLa | 7.5 | RNA-seq from GTEx |
| ARPE-19 | 14.2 | Retinal pigment epithelium cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function; associated with retinitis pigmentosa |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Likely damaging; disrupts MORN repeat domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in MORN4 lead to truncated protein and loss of ciliary localization.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cilium (GO:0005929) |
| • ciliary basal body (GO:0036064) | • cell projection (GO:0042995) |
| • cytoplasm (GO:0005737) |
Pathways
• Ciliopathy pathway (Reactome: R-HSA-5620924)
• Intraflagellar transport (KEGG: hsa04550)
Protein Summary
The MORN4 protein (UniProt Q8N3R9) contains four MORN repeats and localizes to the cilium basal body and axoneme. It is involved in ciliary assembly and maintenance, likely through membrane-binding interactions. Loss of MORN4 function leads to photoreceptor degeneration and retinal ciliopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MORN4 Knockout HEK293 Cell Line | EDJ-KQ7630 | Human | 118812 | Details Get a Quote |
| MORN4 Knockout A-549 Cell Line | EDJ-KQ32975 | Human | 118812 | Details Get a Quote |
| MORN4 Knockout HCT 116 Cell Line | EDJ-KQ32976 | Human | 118812 | Details Get a Quote |
| MORN4 Knockout HeLa Cell Line | EDJ-KQ32977 | Human | 118812 | Details Get a Quote |
