Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83552
Gene name Gene Name - the full gene name approved by the HGNC.
Membrane frizzled-related protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MFRP
Synonyms (NCBI Gene) Gene synonyms aliases
CTRP5, MCOP5, NNO2, RD6
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MCOP5, NNO2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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, foveoschi
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT715910 hsa-miR-4258 HITS-CLIP 19536157
MIRT715909 hsa-miR-7108-3p HITS-CLIP 19536157
MIRT715908 hsa-miR-6786-5p HITS-CLIP 19536157
MIRT715907 hsa-miR-6845-3p HITS-CLIP 19536157
MIRT715906 hsa-miR-3621 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0007601 Process Visual perception IEA
GO:0009792 Process Embryo development ending in birth or egg hatching NAS 11263980
GO:0016021 Component Integral component of membrane TAS 11263980
GO:0016324 Component Apical plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606227 18121 ENSG00000235718
Protein
UniProt ID Q9BY79
Protein name Membrane frizzled-related protein (Membrane-type frizzled-related protein)
Protein function May play a role in eye development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00431 CUB 144 250 CUB domain Domain
PF00057 Ldl_recept_a 258 294 Low-density lipoprotein receptor domain class A Repeat
PF00431 CUB 301 411 CUB domain Domain
PF01392 Fz 466 572 Fz domain Domain
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes. {ECO:0000269|PubMed:11263980, ECO:0000269|PubMed:16442268}.
Sequence
Sequence length 579
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Retinal degeneration LATE-ONSET RETINAL DEGENERATION (disorder) rs111033578, rs1569848362, rs1591299252, rs754954058, rs1700769766
Microphthalmos Microphthalmos rs794726862, rs1329285216 15976030
Nanophthalmos NANOPHTHALMOS 2 (disorder), Nanophthalmos rs587776595, rs121908189, rs587776596, rs121908190, rs587777690, rs869312733, rs869312734, rs1591137064 15976030, 17167404
Unknown
Disease term Disease name Evidence References Source
Microphthalmia isolated microphthalmia 5 GenCC
Gout Gout GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 23742260
Aicardi Goutieres syndrome Associate 32996714
Anisocoria Associate 38217995
Chemke Oliver Mallek syndrome Associate 17167404
Cone Rod Dystrophies Associate 20361016
Disease Associate 31992737
Genetic Diseases Inborn Associate 17167404, 37752465, 38217995
Glaucoma Angle Closure Associate 18648522, 22933837, 23378726, 30348125
Glomerulonephritis Membranous Associate 20361016, 23112574
Hyperopia Associate 18781223, 19169412, 23742260, 32996714, 33203948