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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79147
Gene name Gene Name - the full gene name approved by the HGNC.	Fukutin related protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FKRP
Synonyms (NCBI Gene) Gene synonyms aliases	FKTR, LGMD2I, LGMDR9, MDC1C, MDDGA5, MDDGB5, MDDGC5
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cere

Show/Hide all(90)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937900	C>A,T	Likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant, missense variant
rs28937901	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs28937902	C>A	Pathogenic	Coding sequence variant, missense variant
rs28937903	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs28937904	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs28937905	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs104894679	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894680	C>A,G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant, stop gained
rs104894681	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894682	T>A	Pathogenic, likely-pathogenic	Terminator codon variant, stop lost
rs104894683	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs104894684	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894689	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894691	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104894692	T>A	Not-provided, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121908110	A>G	Pathogenic	Coding sequence variant, missense variant
rs140084192	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs140679502	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143129484	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143793528	C>G	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201076863	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs201454433	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant
rs398124395	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs528000488	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs532054402	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs543163491	A>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs552260353	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs563033008	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs565563742	T>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587777223	A>G	Pathogenic	Initiator codon variant, missense variant
rs587777823	->ACCT	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs587780334	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs745774108	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs748087383	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs748798133	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs752582904	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs752731569	G>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs753811189	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs754403441	G>-,GG	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs755968761	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs759585825	G>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs761821795	C>T	Pathogenic	Coding sequence variant, stop gained
rs765885747	G>C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs766339195	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs768007208	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs768606230	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs769005880	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs770711331	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs772950604	->T	Pathogenic	Coding sequence variant, stop gained
rs775681117	G>C	Pathogenic	Missense variant, coding sequence variant
rs878854376	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886041004	GG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886042506	->GGAG	Pathogenic	Frameshift variant, coding sequence variant
rs886043706	G>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs886043959	CC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044083	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886044183	G>A,C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs886044496	CCCCGCTGGCCAC>C,G	Likely-pathogenic, uncertain-significance	Inframe indel, coding sequence variant, inframe deletion
rs1054339656	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1057520771	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs1057520772	A>C	Pathogenic	Coding sequence variant, missense variant
rs1060502109	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs1191737604	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1247934219	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1290836394	->TGCGG	Pathogenic	Frameshift variant, coding sequence variant
rs1301397800	T>C	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1483781400	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1555738103	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555738149	->AGGCATTTGACAACGCG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738201	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555738204	->AGCCC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738245	G>AT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738311	GCGCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738456	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738502	C>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs1555738568	->CCCGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738651	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738675	GGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738686	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738753	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555738764	G>-,GGG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738823	TTCGGCTGCAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555738883	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555739041	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555739333	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568418845	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1568419860	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1599937963	CGCGCTGCGCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1599938271	GCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599939853	G>A	Likely-pathogenic	Stop gained, coding sequence variant

Show/Hide all(193)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029898	hsa-miR-26b-5p	Microarray	19088304
MIRT039217	hsa-miR-769-5p	CLASH	23622248
MIRT723610	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT723609	hsa-miR-1470	HITS-CLIP	19536157
MIRT723608	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT723607	hsa-miR-340-3p	HITS-CLIP	19536157
MIRT723606	hsa-miR-6827-3p	HITS-CLIP	19536157
MIRT723605	hsa-miR-4469	HITS-CLIP	19536157
MIRT723604	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT723603	hsa-miR-4287	HITS-CLIP	19536157
MIRT723602	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT723601	hsa-miR-3913-3p	HITS-CLIP	19536157
MIRT723600	hsa-miR-4513	HITS-CLIP	19536157
MIRT723599	hsa-miR-6855-3p	HITS-CLIP	19536157
MIRT723598	hsa-miR-6857-3p	HITS-CLIP	19536157
MIRT723597	hsa-miR-92b-5p	HITS-CLIP	19536157
MIRT723596	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT723595	hsa-miR-489-3p	HITS-CLIP	19536157
MIRT723594	hsa-miR-3136-5p	HITS-CLIP	19536157
MIRT723593	hsa-miR-4439	HITS-CLIP	19536157
MIRT723610	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT723609	hsa-miR-1470	HITS-CLIP	19536157
MIRT723608	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT723607	hsa-miR-340-3p	HITS-CLIP	19536157
MIRT723606	hsa-miR-6827-3p	HITS-CLIP	19536157
MIRT723605	hsa-miR-4469	HITS-CLIP	19536157
MIRT723604	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT723603	hsa-miR-4287	HITS-CLIP	19536157
MIRT723602	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT723601	hsa-miR-3913-3p	HITS-CLIP	19536157
MIRT723600	hsa-miR-4513	HITS-CLIP	19536157
MIRT723599	hsa-miR-6855-3p	HITS-CLIP	19536157
MIRT723598	hsa-miR-6857-3p	HITS-CLIP	19536157
MIRT723597	hsa-miR-92b-5p	HITS-CLIP	19536157
MIRT723596	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT723595	hsa-miR-489-3p	HITS-CLIP	19536157
MIRT723594	hsa-miR-3136-5p	HITS-CLIP	19536157
MIRT723593	hsa-miR-4439	HITS-CLIP	19536157
MIRT997893	hsa-miR-1178	CLIP-seq
MIRT997894	hsa-miR-1228	CLIP-seq
MIRT997895	hsa-miR-1913	CLIP-seq
MIRT997896	hsa-miR-3157-3p	CLIP-seq
MIRT997897	hsa-miR-324-3p	CLIP-seq
MIRT997898	hsa-miR-342-3p	CLIP-seq
MIRT997899	hsa-miR-3907	CLIP-seq
MIRT997900	hsa-miR-4731-5p	CLIP-seq
MIRT997901	hsa-miR-4749-3p	CLIP-seq
MIRT997902	hsa-let-7a	CLIP-seq
MIRT997903	hsa-let-7b	CLIP-seq
MIRT997904	hsa-let-7c	CLIP-seq
MIRT997905	hsa-let-7d	CLIP-seq
MIRT997906	hsa-let-7e	CLIP-seq
MIRT997907	hsa-let-7f	CLIP-seq
MIRT997908	hsa-let-7g	CLIP-seq
MIRT997909	hsa-let-7i	CLIP-seq
MIRT997910	hsa-miR-106a	CLIP-seq
MIRT997911	hsa-miR-106b	CLIP-seq
MIRT997912	hsa-miR-1224-3p	CLIP-seq
MIRT997913	hsa-miR-1234	CLIP-seq
MIRT997914	hsa-miR-1260	CLIP-seq
MIRT997915	hsa-miR-1260b	CLIP-seq
MIRT997916	hsa-miR-1263	CLIP-seq
MIRT997917	hsa-miR-1280	CLIP-seq
MIRT997918	hsa-miR-1291	CLIP-seq
MIRT997919	hsa-miR-1343	CLIP-seq
MIRT997920	hsa-miR-150	CLIP-seq
MIRT997921	hsa-miR-17	CLIP-seq
MIRT997922	hsa-miR-1827	CLIP-seq
MIRT997923	hsa-miR-1912	CLIP-seq
MIRT997924	hsa-miR-202	CLIP-seq
MIRT997925	hsa-miR-20a	CLIP-seq
MIRT997926	hsa-miR-20b	CLIP-seq
MIRT997927	hsa-miR-302a	CLIP-seq
MIRT997928	hsa-miR-302b	CLIP-seq
MIRT997929	hsa-miR-302c	CLIP-seq
MIRT997930	hsa-miR-302d	CLIP-seq
MIRT997931	hsa-miR-302e	CLIP-seq
MIRT997932	hsa-miR-3130-5p	CLIP-seq
MIRT997933	hsa-miR-3173-5p	CLIP-seq
MIRT997934	hsa-miR-3174	CLIP-seq
MIRT997935	hsa-miR-3615	CLIP-seq
MIRT997936	hsa-miR-3659	CLIP-seq
MIRT997937	hsa-miR-3665	CLIP-seq
MIRT997938	hsa-miR-3669	CLIP-seq
MIRT997939	hsa-miR-372	CLIP-seq
MIRT997940	hsa-miR-373	CLIP-seq
MIRT997941	hsa-miR-378g	CLIP-seq
MIRT997899	hsa-miR-3907	CLIP-seq
MIRT997942	hsa-miR-3917	CLIP-seq
MIRT997943	hsa-miR-4276	CLIP-seq
MIRT997944	hsa-miR-4437	CLIP-seq
MIRT997945	hsa-miR-4438	CLIP-seq
MIRT997946	hsa-miR-4458	CLIP-seq
MIRT997947	hsa-miR-4481	CLIP-seq
MIRT997948	hsa-miR-4482	CLIP-seq
MIRT997949	hsa-miR-4500	CLIP-seq
MIRT997950	hsa-miR-4503	CLIP-seq
MIRT997951	hsa-miR-4633-3p	CLIP-seq
MIRT997952	hsa-miR-4637	CLIP-seq
MIRT997953	hsa-miR-4649-3p	CLIP-seq
MIRT997954	hsa-miR-4658	CLIP-seq
MIRT997955	hsa-miR-4674	CLIP-seq
MIRT997956	hsa-miR-4678	CLIP-seq
MIRT997900	hsa-miR-4731-5p	CLIP-seq
MIRT997957	hsa-miR-4734	CLIP-seq
MIRT997958	hsa-miR-4742-3p	CLIP-seq
MIRT997959	hsa-miR-4745-5p	CLIP-seq
MIRT997960	hsa-miR-4758-5p	CLIP-seq
MIRT997961	hsa-miR-4773	CLIP-seq
MIRT997962	hsa-miR-4803	CLIP-seq
MIRT997963	hsa-miR-489	CLIP-seq
MIRT997964	hsa-miR-5095	CLIP-seq
MIRT997965	hsa-miR-512-3p	CLIP-seq
MIRT997966	hsa-miR-519d	CLIP-seq
MIRT997967	hsa-miR-520a-3p	CLIP-seq
MIRT997968	hsa-miR-520b	CLIP-seq
MIRT997969	hsa-miR-520c-3p	CLIP-seq
MIRT997970	hsa-miR-520d-3p	CLIP-seq
MIRT997971	hsa-miR-520e	CLIP-seq
MIRT997972	hsa-miR-520g	CLIP-seq
MIRT997973	hsa-miR-520h	CLIP-seq
MIRT997974	hsa-miR-532-3p	CLIP-seq
MIRT997975	hsa-miR-556-3p	CLIP-seq
MIRT997976	hsa-miR-558	CLIP-seq
MIRT997977	hsa-miR-574-5p	CLIP-seq
MIRT997978	hsa-miR-633	CLIP-seq
MIRT997979	hsa-miR-635	CLIP-seq
MIRT997980	hsa-miR-657	CLIP-seq
MIRT997981	hsa-miR-93	CLIP-seq
MIRT997982	hsa-miR-98	CLIP-seq
MIRT1995845	hsa-miR-15a	CLIP-seq
MIRT1995846	hsa-miR-15b	CLIP-seq
MIRT1995847	hsa-miR-16	CLIP-seq
MIRT1995848	hsa-miR-195	CLIP-seq
MIRT1995849	hsa-miR-424	CLIP-seq
MIRT1995850	hsa-miR-4257	CLIP-seq
MIRT1995851	hsa-miR-4446-3p	CLIP-seq
MIRT1995852	hsa-miR-4524	CLIP-seq
MIRT1995853	hsa-miR-4656	CLIP-seq
MIRT1995854	hsa-miR-4721	CLIP-seq
MIRT1995855	hsa-miR-497	CLIP-seq
MIRT1995856	hsa-miR-503	CLIP-seq
MIRT997964	hsa-miR-5095	CLIP-seq
MIRT1995857	hsa-miR-646	CLIP-seq
MIRT1995858	hsa-miR-668	CLIP-seq
MIRT997910	hsa-miR-106a	CLIP-seq
MIRT997911	hsa-miR-106b	CLIP-seq
MIRT997912	hsa-miR-1224-3p	CLIP-seq
MIRT997913	hsa-miR-1234	CLIP-seq
MIRT997914	hsa-miR-1260	CLIP-seq
MIRT997915	hsa-miR-1260b	CLIP-seq
MIRT997917	hsa-miR-1280	CLIP-seq
MIRT997919	hsa-miR-1343	CLIP-seq
MIRT997920	hsa-miR-150	CLIP-seq
MIRT997921	hsa-miR-17	CLIP-seq
MIRT997925	hsa-miR-20a	CLIP-seq
MIRT997926	hsa-miR-20b	CLIP-seq
MIRT997927	hsa-miR-302a	CLIP-seq
MIRT997928	hsa-miR-302b	CLIP-seq
MIRT997929	hsa-miR-302c	CLIP-seq
MIRT997930	hsa-miR-302d	CLIP-seq
MIRT997931	hsa-miR-302e	CLIP-seq
MIRT2229794	hsa-miR-3126-5p	CLIP-seq
MIRT997939	hsa-miR-372	CLIP-seq
MIRT997940	hsa-miR-373	CLIP-seq
MIRT997941	hsa-miR-378g	CLIP-seq
MIRT1995850	hsa-miR-4257	CLIP-seq
MIRT2229795	hsa-miR-4419a	CLIP-seq
MIRT997944	hsa-miR-4437	CLIP-seq
MIRT1995851	hsa-miR-4446-3p	CLIP-seq
MIRT2229796	hsa-miR-4494	CLIP-seq
MIRT2229797	hsa-miR-4510	CLIP-seq
MIRT1995853	hsa-miR-4656	CLIP-seq
MIRT997955	hsa-miR-4674	CLIP-seq
MIRT2229798	hsa-miR-4710	CLIP-seq
MIRT1995854	hsa-miR-4721	CLIP-seq
MIRT997900	hsa-miR-4731-5p	CLIP-seq
MIRT2229799	hsa-miR-499a-5p	CLIP-seq
MIRT997966	hsa-miR-519d	CLIP-seq
MIRT997967	hsa-miR-520a-3p	CLIP-seq
MIRT997968	hsa-miR-520b	CLIP-seq
MIRT997969	hsa-miR-520c-3p	CLIP-seq
MIRT997970	hsa-miR-520d-3p	CLIP-seq
MIRT997971	hsa-miR-520e	CLIP-seq
MIRT997972	hsa-miR-520g	CLIP-seq
MIRT997973	hsa-miR-520h	CLIP-seq
MIRT997974	hsa-miR-532-3p	CLIP-seq
MIRT2229800	hsa-miR-640	CLIP-seq
MIRT1995857	hsa-miR-646	CLIP-seq
MIRT1995858	hsa-miR-668	CLIP-seq
MIRT997981	hsa-miR-93	CLIP-seq
MIRT2533743	hsa-miR-1184	CLIP-seq
MIRT2533744	hsa-miR-4281	CLIP-seq

Show/Hide all(81)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	26923585, 29477842
GO:0000139	Component	Golgi membrane	IEA
GO:0001654	Process	Eye development	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0002162	Function	Dystroglycan binding	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003016	Process	Respiratory system process	IEA
GO:0005515	Function	Protein binding	IPI	27601598, 29477842
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	19900540
GO:0005615	Component	Extracellular space	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005791	Component	Rough endoplasmic reticulum	IDA	15213246
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	19900540, 25279699, 29477842
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006096	Process	Glycolytic process	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006600	Process	Creatine metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0009101	Process	Glycoprotein biosynthetic process	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010001	Process	Glial cell differentiation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014823	Process	Response to activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016780	Function	Phosphotransferase activity, for other substituted phosphate groups	IDA	26923585, 27194101, 29477842, 31949166
GO:0016780	Function	Phosphotransferase activity, for other substituted phosphate groups	IEA
GO:0017038	Process	Protein import	IEA
GO:0019321	Process	Pentose metabolic process	IEA
GO:0019519	Process	Pentitol metabolic process	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IBA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IEA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IMP	25279699
GO:0035437	Process	Maintenance of protein localization in endoplasmic reticulum	IEA
GO:0036058	Process	Filtration diaphragm assembly	IEA
GO:0036211	Process	Protein modification process	IEA
GO:0038026	Process	Reelin-mediated signaling pathway	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042692	Process	Muscle cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	31949166
GO:0043010	Process	Camera-type eye development	IEA
GO:0043236	Function	Laminin binding	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051146	Process	Striated muscle cell differentiation	IEA
GO:0051262	Process	Protein tetramerization	IDA	31949166
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0051674	Process	Localization of cell	IEA
GO:0060538	Process	Skeletal muscle organ development	IEA
GO:0060539	Process	Diaphragm development	IEA
GO:0061061	Process	Muscle structure development	IEA
GO:0061448	Process	Connective tissue development	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0072592	Process	Oxygen metabolic process	IEA
GO:0097305	Process	Response to alcohol	IEA
GO:0097709	Process	Connective tissue replacement	IEA
GO:0098528	Process	Skeletal muscle fiber differentiation	IEA
GO:0098723	Component	Skeletal muscle myofibril	IEA

MIM	HGNC	e!Ensembl
606596	17997	ENSG00000181027

Protein

UniProt ID

Q9H9S5

Protein name

Ribitol 5-phosphate transferase FKRP (EC 2.7.8.-) (Fukutin-related protein) (Ribitol-5-phosphate transferase)

Protein function

Catalyzes the transfer of a ribitol 5-phosphate from CDP-L-ribitol to the ribitol 5-phosphate previously attached by FKTN/fukutin to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-

PDB

6KAJ , 6KAK , 6KAL , 6KAM , 6KAN , 6L7S , 6L7T , 6L7U

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04991	LicD	334 → 374	LicD family	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the retina (at protein level) (PubMed:29416295). Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver, kidney, and pancreas (PubMed:11592034). {ECO:0000269|PubMed:1159

Sequence

MRLTRCQAALAAAITLNLLVLFYVSWLQHQPRNSRARGPRRASAAGPRVTVLVREFEAFD
NAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLALLQPALDRPAAASRPETY
VATEFVALVPDGARAEAPGLLERMVEALRAGSARLVAAPVATANPARCLALNVSLREWTA
RYGAAPAAPRCDALDGDAVVLLRARDLFNLSAPLARPVGTSLFLQTALRGWAVQLLDLTF
AAARQPPLATAHARWKAEREGRARRAALLRALGIRLVSWEGGRLEWFGCNKETTRCFGTV
VGDTPAYLYEERWTPPCCLRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWD
YDVDLGIYLEDVGNCEQLRGAEAGSVVDERGFVWEKAVEGDFFRVQYSESNHLHVDLWPF
YPRNGVMTKDTWLDHRQDVEFPEHFLQPLVPLPFAGFVAQAPNNYRRFLELKFGPGVIEN
PQYPNPALLSLTGSG

Sequence length

495

Interactions

View interactions

	KEGG
	Mannose type O-glycan biosynthesis Metabolic pathways

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5	rs104894691, rs398124395, rs761821795, rs1247934219, rs28937903, rs1057520771, rs104894692, rs587777223, rs28937904, rs104894684, rs886041004, rs754403441, rs1301397800, rs104894679, rs772950604 View all (8 more)	N/A
Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy, Limb-girdle muscular dystrophy	rs1555738568, rs1555738201, rs768606230, rs587777823, rs1555738456, rs1247934219, rs28937903, rs1555739333, rs1555738651, rs886044183, rs104894682, rs1555738686, rs1555738753, rs104894692, rs886043706 View all (35 more)	N/A
Muscular dystrophy	muscular dystrophy	rs121908110	N/A
Muscular Dystrophy-Dystroglycanopathy	Muscular dystrophy-dystroglycanopathy type B5	rs28937903, rs398124395, rs886044183, rs28937904, rs28937901, rs121908110, rs28937902	N/A
Walker-Warburg Congenital Muscular Dystrophy	walker-warburg congenital muscular dystrophy	rs886042506, rs1555739280, rs754403441, rs104894691, rs398124395, rs761821795, rs1555738201, rs768606230, rs1247934219, rs28937903, rs1568419860, rs1555738651, rs886044183, rs104894682, rs1555738686 View all (29 more)	N/A
muscular dystrophy-dystroglycanopathy	Muscular dystrophy-dystroglycanopathy	rs104894682	N/A

Show/Hide Unknown Diseases (2)

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.
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
Myopathy	myopathy caused by variation in FKRP	N/A	N/A	GenCC

Show/Hide Text Mining Associations (42)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Disease	Associate	29101272
Agenesis of Cerebellar Vermis	Associate	14652796
Brain Diseases	Associate	14652796
Cardiomyopathies	Associate	32429923, 32914449, 36522254, 37927270
Cardiomyopathy Dilated	Associate	31671740
Clinical Deterioration	Associate	14652796
Contracture	Associate	37154180
Cysts	Associate	14652796
Diabetes Mellitus Type 1	Associate	22403184
Distal myopathy Nonaka type	Associate	39408683
Edema	Associate	30003095
Fetal Alcohol Spectrum Disorders	Associate	14652796
Glycogen Storage Disease Type II	Associate	31931849
Heart Diseases	Associate	14652796, 32342672
Heart Failure	Associate	19705481
Hypertrophy	Associate	14652796
Hypomagnesemia primary	Associate	21172462
Intellectual Disability	Associate	14652796
Language Development Disorders	Associate	37154180
Leukemic Infiltration	Associate	30003095
Leukoencephalopathies	Associate	14652796
Limb girdle muscular dystrophy type 2A	Associate	21172462
Limb girdle muscular dystrophy type 2C	Associate	37154180
Lymphedema Congenital Recessive	Associate	31931849
Macroglossia	Associate	37154180
Muscle Weakness	Associate	37154180, 37927270
Muscular Diseases	Associate	32429923, 35239206
Muscular Dystrophies	Associate	11592034, 14652796, 18036232, 19835634, 32115343, 32342672, 34628793, 34653404, 37154180
Muscular Dystrophies Limb Girdle	Associate	14652796, 18691338, 26404900, 27142102, 32342672, 32429923, 32576226, 32914449, 34653404, 35239206, 36522254, 37154180, 37688281, 37695533, 37887288, 37927270, 39232665, 39408683 View all (3 more)
Muscular Dystrophy Congenital 1C	Associate	14742276, 18645206, 39408683
Muscular Dystrophy Duchenne	Associate	39408683
Muscular Dystrophy Limb Girdle Type 1E	Associate	32576226
Muscular Dystrophy Limb Girdle Type 2I	Associate	14742276, 18036232, 18645206, 19705481, 24587344, 27872178, 30003095, 32419263
Myasthenic Syndromes Congenital	Associate	32115343
Myostatin related muscle hypertrophy	Associate	37154180
Neurodegenerative Diseases	Associate	14652796
Pancreatitis	Associate	22403184
Renal Insufficiency	Associate	37927270
Respiratory Insufficiency	Associate	22727687
Rhabdomyolysis	Associate	32978841
Sleep Wake Disorders	Associate	37927270
Walker Warburg Syndrome	Associate	14652796, 15894594, 18752264, 23217329, 29101272, 30060766, 31566294, 32115343, 32342672, 32764098, 33513091, 34653404, 39408683

FKRP (fukutin related protein)