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

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
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

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

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

MKDFSDVILCMEATESSKTEFCNPAFEPESGPPCPPPVFPEDASYSVPAPWHGRRPRGLR
PDCRFSWLCVLLLSSLLLLLLGLLVAIILAQLQAAPPSGASHSPLPAGGLTTTTTTPTIT
TSQAAGTPKGQQESGVSPSPQSTCGGLLSGPRGFFSSPNYPDPYPPNTHCVWHIQVATDH
AIQLKIEALSIESVASCLFDRLELSPEPEGPLLRVCGRVPPPTLNTNASHLLVVFVSDSS
VEGFGFHAWYQAMAPGRGSCAHDEFRCDQLICLLPDSVCDGFANCADGSDETNCSAKFSG
CGGNLTGLQGTFSTPSYLQQYPHQLLCTWHISVPAGHSIELQFHNFSLEAQDECKFDYVE
VYETSSSGAFSLLGRFCGAEPPPHLVSSHHELAVLFRTDHGISSGGFSATYLAFNATENP
CGPSELSCQAGGCKGVQWMCDMWRDCTDGSDDNCSGPLFPPPELACEPVQVEMCLGLSYN
TTAFPNIWVGMITQEEVVEVLSGYKSLTSLPCYQHFRRLLCGLLVPRCTPLGSVLPPCRS
VCQEAEHQCQSGLALLGTPWPFNCNRLPEAADLEACAQP

Sequence length

579

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Microphthalmia	Isolated microphthalmia 5	rs786205471, rs1422497202, rs121908189, rs786205472, rs374823079, rs797045054, rs1565295426, rs587776596, rs145719998, rs1555037395, rs770341402, rs1166512859, rs730882141, rs1245503127, rs1226217440 View all (8 more)	N/A
Nanophthalmos	Nanophthalmos 2	rs587776596, rs121908190, rs587776595, rs121908189	N/A
retinal dystrophy	Retinal dystrophy	rs1555037395, rs587776596, rs145719998, rs1243587288, rs150232843, rs587776595, rs730882143	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Gout	Gout	N/A	N/A	GWAS

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)