Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	83552
Gene name	Membrane frizzled-related protein
Gene symbol	MFRP
Synonyms (NCBI Gene)	CTRP5MCOP5NNO2RD6
Chromosome	11
Chromosome location	11q23.3
Summary	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

133

Show/Hide all (133)

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
MIRT715905	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT715904	hsa-miR-4281	HITS-CLIP	19536157
MIRT715903	hsa-miR-541-3p	HITS-CLIP	19536157
MIRT715902	hsa-miR-654-5p	HITS-CLIP	19536157
MIRT715901	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT715900	hsa-miR-6773-5p	HITS-CLIP	19536157
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
MIRT715905	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT715904	hsa-miR-4281	HITS-CLIP	19536157
MIRT715903	hsa-miR-541-3p	HITS-CLIP	19536157
MIRT715902	hsa-miR-654-5p	HITS-CLIP	19536157
MIRT715901	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT715900	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT473297	hsa-miR-6165	PAR-CLIP	23592263
MIRT473296	hsa-miR-4779	PAR-CLIP	23592263
MIRT473295	hsa-miR-4661-3p	PAR-CLIP	23592263
MIRT473293	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT473294	hsa-miR-4459	PAR-CLIP	23592263
MIRT473292	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT473291	hsa-miR-6081	PAR-CLIP	23592263
MIRT473290	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT473289	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT473287	hsa-miR-3175	PAR-CLIP	23592263
MIRT473288	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT473286	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT473285	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT473284	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT473283	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT473282	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT473281	hsa-miR-4651	PAR-CLIP	23592263
MIRT473280	hsa-miR-608	PAR-CLIP	23592263
MIRT473279	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT473277	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT473278	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT473276	hsa-miR-491-5p	PAR-CLIP	23592263
MIRT473275	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT473274	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT473273	hsa-miR-6769b-5p	PAR-CLIP	23592263
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
MIRT715905	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT715904	hsa-miR-4281	HITS-CLIP	19536157
MIRT715903	hsa-miR-541-3p	HITS-CLIP	19536157
MIRT715902	hsa-miR-654-5p	HITS-CLIP	19536157
MIRT715901	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT715900	hsa-miR-6773-5p	HITS-CLIP	19536157
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
MIRT715905	hsa-miR-296-5p	HITS-CLIP	19536157
MIRT715904	hsa-miR-4281	HITS-CLIP	19536157
MIRT715903	hsa-miR-541-3p	HITS-CLIP	19536157
MIRT715902	hsa-miR-654-5p	HITS-CLIP	19536157
MIRT715901	hsa-miR-6724-5p	HITS-CLIP	19536157
MIRT715900	hsa-miR-6773-5p	HITS-CLIP	19536157
MIRT473297	hsa-miR-6165	PAR-CLIP	23592263
MIRT473296	hsa-miR-4779	PAR-CLIP	23592263
MIRT473295	hsa-miR-4661-3p	PAR-CLIP	23592263
MIRT473293	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT473294	hsa-miR-4459	PAR-CLIP	23592263
MIRT473292	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT473291	hsa-miR-6081	PAR-CLIP	23592263
MIRT473290	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT473289	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT473287	hsa-miR-3175	PAR-CLIP	23592263
MIRT473288	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT473286	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT473285	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT473284	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT473283	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT473282	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT473281	hsa-miR-4651	PAR-CLIP	23592263
MIRT473280	hsa-miR-608	PAR-CLIP	23592263
MIRT473279	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT473277	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT473278	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT473276	hsa-miR-491-5p	PAR-CLIP	23592263
MIRT473275	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT473274	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT473273	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT1146321	hsa-miR-1182	CLIP-seq
MIRT1146322	hsa-miR-1193	CLIP-seq
MIRT1146323	hsa-miR-1202	CLIP-seq
MIRT1146324	hsa-miR-1254	CLIP-seq
MIRT1146325	hsa-miR-1293	CLIP-seq
MIRT1146326	hsa-miR-1321	CLIP-seq
MIRT1146327	hsa-miR-3116	CLIP-seq
MIRT1146328	hsa-miR-3194-5p	CLIP-seq
MIRT1146329	hsa-miR-338-5p	CLIP-seq
MIRT1146330	hsa-miR-3663-5p	CLIP-seq
MIRT1146331	hsa-miR-3972	CLIP-seq
MIRT1146332	hsa-miR-3978	CLIP-seq
MIRT1146333	hsa-miR-4252	CLIP-seq
MIRT1146334	hsa-miR-4270	CLIP-seq
MIRT1146335	hsa-miR-4271	CLIP-seq
MIRT1146336	hsa-miR-4441	CLIP-seq
MIRT1146337	hsa-miR-4483	CLIP-seq
MIRT1146338	hsa-miR-4536	CLIP-seq
MIRT1146339	hsa-miR-4640-5p	CLIP-seq
MIRT1146340	hsa-miR-4685-5p	CLIP-seq
MIRT1146341	hsa-miR-4691-3p	CLIP-seq
MIRT1146342	hsa-miR-4725-3p	CLIP-seq
MIRT1146343	hsa-miR-4726-5p	CLIP-seq
MIRT1146344	hsa-miR-4728-5p	CLIP-seq
MIRT1146345	hsa-miR-4739	CLIP-seq
MIRT1146346	hsa-miR-4756-5p	CLIP-seq
MIRT1146347	hsa-miR-513b	CLIP-seq
MIRT1146348	hsa-miR-635	CLIP-seq
MIRT2041695	hsa-miR-1225-3p	CLIP-seq
MIRT2041696	hsa-miR-1236	CLIP-seq
MIRT2041697	hsa-miR-3192	CLIP-seq
MIRT2041698	hsa-miR-3679-3p	CLIP-seq
MIRT2041699	hsa-miR-4292	CLIP-seq
MIRT2041700	hsa-miR-4300	CLIP-seq
MIRT2041701	hsa-miR-4308	CLIP-seq
MIRT2041702	hsa-miR-4323	CLIP-seq
MIRT2041703	hsa-miR-4753-3p	CLIP-seq
MIRT2041704	hsa-miR-920	CLIP-seq
MIRT2041705	hsa-miR-942	CLIP-seq

Show/Hide all (9)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16600989, 17122143, 24531000
GO:0005886	Component	Plasma membrane	IEA
GO:0007601	Process	Visual perception	IEA
GO:0009792	Process	Embryo development ending in birth or egg hatching	NAS	11263980
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	11263980
GO:0016324	Component	Apical plasma membrane	IEA
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA

MIM	HGNC	e!Ensembl
606227	18121	ENSG00000235718

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

MKDFSDVILCMEATESSKTEFCNPAFEPESGPPCPPPVFPEDASYSVPAPWHGRRPRGLR
PDCRFSWLCVLLLSSLLLLLLGLLVAIILAQLQAAPPSGASHSPLPAGGLTTTTTTPTIT
TSQAAGTPKGQQESGVSPSPQSTCGGLLSGPRGFFSSPNYPDPYPPNTHCVWHIQVATDH
AIQLKIEALSIESVASCLFDRLELSPEPEGPLLRVCGRVPPPTLNTNASHLLVVFVSDSS
VEGFGFHAWYQAMAPGRGSCAHDEFRCDQLICLLPDSVCDGFANCADGSDETNCSAKFSG
CGGNLTGLQGTFSTPSYLQQYPHQLLCTWHISVPAGHSIELQFHNFSLEAQDECKFDYVE
VYETSSSGAFSLLGRFCGAEPPPHLVSSHHELAVLFRTDHGISSGGFSATYLAFNATENP
CGPSELSCQAGGCKGVQWMCDMWRDCTDGSDDNCSGPLFPPPELACEPVQVEMCLGLSYN
TTAFPNIWVGMITQEEVVEVLSGYKSLTSLPCYQHFRRLLCGLLVPRCTPLGSVLPPCRS
VCQEAEHQCQSGLALLGTPWPFNCNRLPEAADLEACAQP

Sequence length

579

Interactions

View interactions

546

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Isolated microphthalmia 5	Pathogenic; Likely pathogenic	rs1342453275, rs763385432, rs1435204327, rs2135374023, rs2135374862, rs2135373641, rs2135374097, rs1033747538, rs985358609, rs1357854800, rs930359553, rs730882141, rs150232843, rs730882143, rs786205471 View all (31 more)	RCV001387384 RCV001384252 RCV001381150 RCV001382743 RCV001807532 RCV001999868 RCV001956194 RCV001904628 RCV001952914 RCV002022410 RCV003097684 RCV000161912 RCV000161914 RCV000161915 RCV000761498 RCV003987399 RCV003079179 RCV002612588 RCV003112237 RCV000161910 RCV001332642 RCV000161911 RCV000004735 RCV002592926 RCV000191105 RCV002847950 RCV003503626 RCV003504211 RCV003611743 RCV003612760 RCV003612216 RCV001857224 RCV000540988 RCV000578235 RCV000578400 RCV000778308 RCV001854001 RCV001382071 RCV001386036 RCV001057432 RCV000692211 RCV001052804 RCV001034770 RCV001045511 RCV001724241 RCV001169878 RCV001859101 RCV001208975 RCV001243356 RCV001246358
MFRP-related disorder	Pathogenic	rs587776596	RCV004532288
Nanophthalmia	Likely pathogenic; Pathogenic	rs374823079	RCV000678582
Nanophthalmos 2	Pathogenic; Likely pathogenic	rs763385432, rs1435204327, rs730882143, rs587776595, rs121908189, rs587776596, rs121908190, rs374823079, rs145719998, rs769294778, rs200251814, rs1950537117	RCV002493926 RCV002246363 RCV002498801 RCV000004731 RCV000004732 RCV000004733 RCV000004734 RCV002493121 RCV005358031 RCV001255868 RCV001255866 RCV001255870
Retinal dystrophy	Pathogenic; Likely pathogenic	rs150232843, rs730882143, rs587776595, rs587776596, rs1555037395, rs145719998, rs1243587288	RCV004815251 RCV004815252 RCV004814822 RCV004814823 RCV004814824 RCV000505123 RCV001075599 RCV001074799

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Optic atrophy	Uncertain significance	rs745791741	RCV004816865

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Kenny Caffey syndrome type 2	Associate	32996714
Macular Edema	Associate	25383852
Microphthalmia Posterior With Retinitis Pigmentosa Foveoschisis And Optic Disc Drusen	Associate	17167404, 19753314, 23077403, 23112574, 25383852
Microphthalmos	Associate	17167404, 19169412, 23742260, 31992737, 32052405
Nanophthalmos 1	Associate	17167404, 18334955, 18363166, 18648522, 18781223, 19169412, 19753314, 23742260, 25383852, 30348125, 31992737, 32996714, 33004036, 33203948, 37752465, 38217995 View all (1 more)
Nanophthalmos 2	Associate	18363166, 31992737
Optic Disk Drusen	Associate	17167404, 19753314, 23077403, 23112574, 25383852, 37752465
Pena Shokeir syndrome type 1	Associate	23112574
Proteostasis Deficiencies	Associate	23742260, 31992737
Refractive Errors	Associate	18363166
Retinal Degeneration	Associate	17167404, 33203948
Retinal Dystrophies	Associate	23742260, 32996714, 39596324
Retinitis Pigmentosa	Associate	17167404, 19753314, 22605927, 23077403, 23112574, 25383852, 31992737, 37752465, 38217995
Retinoschisis	Associate	17167404

MFRP (membrane frizzled-related protein)