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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (45 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MFRP-related disorder	Pathogenic	rs587776596	RCV004532288	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nanophthalmia	Likely pathogenic; Pathogenic	rs374823079	RCV000678582	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nanophthalmos 2	Pathogenic; Likely pathogenic	rs763385432, rs1435204327, rs730882143, rs587776595, rs121908189, rs587776596, rs121908190, rs374823079, rs145719998, rs769294778, rs200251814, rs1950537117	RCV002493926 RCV002246363 RCV002498801 RCV000004731 RCV000004732 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs150232843, rs730882143, rs587776595, rs587776596, rs1555037395, rs145719998, rs1243587288	RCV004815251 RCV004815252 RCV004814822 RCV004814823 RCV004814824 RCV000505123 RCV001075599 RCV001074799 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 5	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 6	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, RETINITIS PIGMENTOSA, FOVEOSCHISIS, OPTIC DISC DRUSEN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA-RETINITIS PIGMENTOSA-FOVEOSCHISIS-OPTIC DISC DRUSEN SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NANOPHTHALMOS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NANOPHTHALMOS 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NANOPHTHALMOS 3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NANOPHTHALMOS 4	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MFRP (membrane frizzled-related protein)