MFRP Gene Summary [Human]
This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]
Details
| Type | Protein Coding |
| Official Symbol | MFRP |
| Official Name | membrane frizzled-related protein [Source:HGNC Symbol;Acc:HGNC:18121] |
| Ensembl ID | ENSG00000235718 |
| Bio databases IDs | |
| Aliases | membrane frizzled-related protein, membrane-type frizzled-related protein, C1q and TNF related 5 |
| Synonyms | CTRP5, MCOP5, membrane frizzled-related protein, NNO2, RD6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MFRP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CUB
- STP box
- Fz domain
- LDLa
- protein binding
- transmembrane receptor
- cysteine rich domain
- CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MFRP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retina development in camera-type eye
- embryo development ending in birth or egg hatching
- eye photoreceptor cell development
- visual perception
Cellular Component
Where in the cell the gene product is active
- membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding