• Gene id: 83552

Gene Summary

• Gene Symbol: MFRP   Gene   UCSC   Ensembl
• Aliases: CTRP5, MCOP5, NNO2, RD6
• Gene name: membrane frizzled-related protein
• Alternate names: membrane frizzled-related protein, C1q and TNF related 5, Complement C1q tumor necrosis factor-related protein 5, membrane-type frizzled-related protein,
• Gene location: 11q23.3 (119346704: 119338941)     Exons: 15     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 606227

Protein Summary

• Protein general information: Q9BY79  
  • Name: Membrane frizzled related protein (Membrane type frizzled related protein)
  • Length: 579  
  • Mass: 62212
  • 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
• Sequence:

  MKDFSDVILCMEATESSKTEFCNPAFEPESGPPCPPPVFPEDASYSVPAPWHGRRPRGLRPDCRFSWLCVLLLSS
  LLLLLLGLLVAIILAQLQAAPPSGASHSPLPAGGLTTTTTTPTITTSQAAGTPKGQQESGVSPSPQSTCGGLLSG
  PRGFFSSPNYPDPYPPNTHCVWHIQVATDHAIQLKIEALSIESVASCLFDRLELSPEPEGPLLRVCGRVPPPTLN
  TNASHLLVVFVSDSSVEGFGFHAWYQAMAPGRGSCAHDEFRCDQLICLLPDSVCDGFANCADGSDETNCSAKFSG
  CGGNLTGLQGTFSTPSYLQQYPHQLLCTWHISVPAGHSIELQFHNFSLEAQDECKFDYVEVYETSSSGAFSLLGR
  FCGAEPPPHLVSSHHELAVLFRTDHGISSGGFSATYLAFNATENPCGPSELSCQAGGCKGVQWMCDMWRDCTDGS
  DDNCSGPLFPPPELACEPVQVEMCLGLSYNTTAFPNIWVGMITQEEVVEVLSGYKSLTSLPCYQHFRRLLCGLLV
  PRCTPLGSVLPPCRSVCQEAEHQCQSGLALLGTPWPFNCNRLPEAADLEACAQP

• Structural information:
  • Protein Domains: (144..25-)
    (/note="CUB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (259..29-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (301..41-)
    (/note="CUB-2)
    (/evidence="ECO:0000255|PROSITE-ProRu-)
  • Interpro: IPR000859  IPR020067  IPR036790  IPR036055  IPR023415   IPR002172  IPR035914  
  • Prosite: PS01180 PS50038 PS01209 PS50068
  • CDD: cd00041 cd00112
  • STRING: ENSP00000481824
• Other Databases: GeneCards:  MFRP  Malacards:  MFRP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0042462	eye photoreceptor cell development	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0009792	embryo development ending in birth or egg hatching	NAS	biological process

Diseases

Associated diseases	References
Microphthalmia	KEGG:H01027
Nanophthalmos	KEGG:H02172
Microphthalmia	KEGG:H01027
Nanophthalmos	KEGG:H02172
isolated microphthalmia 5	PMID:19753314
Retinitis pigmentosa	PMID:22605927
Microphthalmia	PMID:23742260
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq