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MFRP (membrane frizzled-related protein)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83552
Gene nameGene Name - the full gene name approved by the HGNC.
Membrane frizzled-related protein
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MFRP
SynonymsGene synonyms aliases
CTRP5, MCOP5, NNO2, RD6
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 579
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
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 name Disease term dbSNP ID References
Disorder of eye Disorder of eye
Hyperopia Hyperopia
Microphthalmia, with retinitis pigmentosa, foveoschisis, and optic disc drusen Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 26633545, 29450879, 17167404, 23742260, 20361016
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

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