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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2348
Gene name	Folate receptor alpha
Gene symbol	FOLR1
Synonyms (NCBI Gene)	FBPFOLRFRalphaNCFTD
Chromosome	11
Chromosome location	11q13.4
Summary	The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anc

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SNP ID	Visualize variation	Clinical significance	Consequence
rs76191655	C>A,T	Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs121918405	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121918406	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs139633601	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143413500	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs144637717	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Splice donor variant
rs148345688	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149216939	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs375444839	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs398124307	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs564331848	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant
rs757554598	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs886042924	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs952165627	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057518027	G>A	Likely-pathogenic	Splice donor variant
rs1057518816	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524829	A>G	Likely-pathogenic	Initiator codon variant, missense variant
rs1555068629	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555069069	G>A	Pathogenic	Coding sequence variant, stop gained

264

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019895	hsa-miR-375	Microarray	20215506
MIRT023991	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT684063	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT684061	hsa-miR-7153-3p	HITS-CLIP	23313552
MIRT684060	hsa-miR-6165	HITS-CLIP	23313552
MIRT684059	hsa-miR-3914	HITS-CLIP	23313552
MIRT684058	hsa-miR-4747-3p	HITS-CLIP	23313552
MIRT684057	hsa-miR-4436b-3p	HITS-CLIP	23313552
MIRT684056	hsa-miR-4632-5p	HITS-CLIP	23313552
MIRT684055	hsa-miR-6735-5p	HITS-CLIP	23313552
MIRT684054	hsa-miR-6879-5p	HITS-CLIP	23313552
MIRT684053	hsa-miR-7843-5p	HITS-CLIP	23313552
MIRT684052	hsa-miR-4715-5p	HITS-CLIP	23313552
MIRT684051	hsa-miR-4259	HITS-CLIP	23313552
MIRT684050	hsa-miR-4272	HITS-CLIP	23313552
MIRT684049	hsa-miR-3973	HITS-CLIP	23313552
MIRT684048	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684047	hsa-miR-520h	HITS-CLIP	23313552
MIRT684046	hsa-miR-6847-5p	HITS-CLIP	23313552
MIRT684045	hsa-miR-4257	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684044	hsa-miR-29b-1-5p	HITS-CLIP	23313552
MIRT684043	hsa-miR-134-3p	HITS-CLIP	23313552
MIRT684040	hsa-miR-591	HITS-CLIP	23313552
MIRT684039	hsa-miR-5008-5p	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684036	hsa-miR-6081	HITS-CLIP	23313552
MIRT684035	hsa-miR-3167	HITS-CLIP	23313552
MIRT684034	hsa-miR-876-5p	HITS-CLIP	23313552
MIRT684033	hsa-miR-1207-5p	HITS-CLIP	23313552
MIRT684032	hsa-miR-4763-3p	HITS-CLIP	23313552
MIRT684031	hsa-miR-7974	HITS-CLIP	23313552
MIRT684030	hsa-miR-4687-3p	HITS-CLIP	23313552
MIRT684029	hsa-miR-6827-5p	HITS-CLIP	23313552
MIRT684028	hsa-miR-6090	HITS-CLIP	23313552
MIRT684027	hsa-miR-4300	HITS-CLIP	23313552
MIRT684026	hsa-miR-5591-5p	HITS-CLIP	23313552
MIRT684025	hsa-miR-6726-5p	HITS-CLIP	23313552
MIRT684024	hsa-miR-920	HITS-CLIP	23313552
MIRT684023	hsa-miR-6721-5p	HITS-CLIP	23313552
MIRT684022	hsa-miR-4656	HITS-CLIP	23313552
MIRT684021	hsa-miR-4489	HITS-CLIP	23313552
MIRT684020	hsa-miR-4283	HITS-CLIP	23313552
MIRT684019	hsa-miR-185-3p	HITS-CLIP	23313552
MIRT684018	hsa-miR-299-5p	HITS-CLIP	23313552
MIRT684017	hsa-miR-491-5p	HITS-CLIP	23313552
MIRT684016	hsa-miR-3151-5p	HITS-CLIP	23313552
MIRT684015	hsa-miR-4447	HITS-CLIP	23313552
MIRT684014	hsa-miR-4472	HITS-CLIP	23313552
MIRT684013	hsa-miR-6742-5p	HITS-CLIP	23313552
MIRT684012	hsa-miR-4425	HITS-CLIP	23313552
MIRT684011	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT684010	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT684009	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT684008	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT684007	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT684006	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT684005	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT684004	hsa-miR-3689c	HITS-CLIP	23313552
MIRT684003	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT684002	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT684001	hsa-miR-1231	HITS-CLIP	23313552
MIRT683999	hsa-miR-6796-5p	HITS-CLIP	23313552
MIRT683998	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT683997	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT684063	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT684062	hsa-miR-4643	HITS-CLIP	23313552
MIRT684061	hsa-miR-7153-3p	HITS-CLIP	23313552
MIRT684060	hsa-miR-6165	HITS-CLIP	23313552
MIRT684059	hsa-miR-3914	HITS-CLIP	23313552
MIRT684058	hsa-miR-4747-3p	HITS-CLIP	23313552
MIRT684057	hsa-miR-4436b-3p	HITS-CLIP	23313552
MIRT684056	hsa-miR-4632-5p	HITS-CLIP	23313552
MIRT684055	hsa-miR-6735-5p	HITS-CLIP	23313552
MIRT684054	hsa-miR-6879-5p	HITS-CLIP	23313552
MIRT684053	hsa-miR-7843-5p	HITS-CLIP	23313552
MIRT684052	hsa-miR-4715-5p	HITS-CLIP	23313552
MIRT684051	hsa-miR-4259	HITS-CLIP	23313552
MIRT684050	hsa-miR-4272	HITS-CLIP	23313552
MIRT684049	hsa-miR-3973	HITS-CLIP	23313552
MIRT684048	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684047	hsa-miR-520h	HITS-CLIP	23313552
MIRT684046	hsa-miR-6847-5p	HITS-CLIP	23313552
MIRT684045	hsa-miR-4257	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684044	hsa-miR-29b-1-5p	HITS-CLIP	23313552
MIRT684043	hsa-miR-134-3p	HITS-CLIP	23313552
MIRT684042	hsa-miR-642a-3p	HITS-CLIP	23313552
MIRT684041	hsa-miR-642b-3p	HITS-CLIP	23313552
MIRT684040	hsa-miR-591	HITS-CLIP	23313552
MIRT684039	hsa-miR-5008-5p	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684037	hsa-miR-4746-3p	HITS-CLIP	23313552
MIRT684036	hsa-miR-6081	HITS-CLIP	23313552
MIRT684035	hsa-miR-3167	HITS-CLIP	23313552
MIRT684034	hsa-miR-876-5p	HITS-CLIP	23313552
MIRT684033	hsa-miR-1207-5p	HITS-CLIP	23313552
MIRT684032	hsa-miR-4763-3p	HITS-CLIP	23313552
MIRT684031	hsa-miR-7974	HITS-CLIP	23313552
MIRT684030	hsa-miR-4687-3p	HITS-CLIP	23313552
MIRT684029	hsa-miR-6827-5p	HITS-CLIP	23313552
MIRT684028	hsa-miR-6090	HITS-CLIP	23313552
MIRT684027	hsa-miR-4300	HITS-CLIP	23313552
MIRT684026	hsa-miR-5591-5p	HITS-CLIP	23313552
MIRT684025	hsa-miR-6726-5p	HITS-CLIP	23313552
MIRT684024	hsa-miR-920	HITS-CLIP	23313552
MIRT684023	hsa-miR-6721-5p	HITS-CLIP	23313552
MIRT684022	hsa-miR-4656	HITS-CLIP	23313552
MIRT684021	hsa-miR-4489	HITS-CLIP	23313552
MIRT684020	hsa-miR-4283	HITS-CLIP	23313552
MIRT684019	hsa-miR-185-3p	HITS-CLIP	23313552
MIRT684018	hsa-miR-299-5p	HITS-CLIP	23313552
MIRT684017	hsa-miR-491-5p	HITS-CLIP	23313552
MIRT684016	hsa-miR-3151-5p	HITS-CLIP	23313552
MIRT684015	hsa-miR-4447	HITS-CLIP	23313552
MIRT684014	hsa-miR-4472	HITS-CLIP	23313552
MIRT684013	hsa-miR-6742-5p	HITS-CLIP	23313552
MIRT684012	hsa-miR-4425	HITS-CLIP	23313552
MIRT684011	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT684010	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT684009	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT684008	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT684007	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT684006	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT684005	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT684004	hsa-miR-3689c	HITS-CLIP	23313552
MIRT684003	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT684002	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT684001	hsa-miR-1231	HITS-CLIP	23313552
MIRT684000	hsa-miR-147b	HITS-CLIP	23313552
MIRT683999	hsa-miR-6796-5p	HITS-CLIP	23313552
MIRT683998	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT683997	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT684063	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT684061	hsa-miR-7153-3p	HITS-CLIP	23313552
MIRT684060	hsa-miR-6165	HITS-CLIP	23313552
MIRT684059	hsa-miR-3914	HITS-CLIP	23313552
MIRT684058	hsa-miR-4747-3p	HITS-CLIP	23313552
MIRT684057	hsa-miR-4436b-3p	HITS-CLIP	23313552
MIRT684056	hsa-miR-4632-5p	HITS-CLIP	23313552
MIRT684055	hsa-miR-6735-5p	HITS-CLIP	23313552
MIRT684054	hsa-miR-6879-5p	HITS-CLIP	23313552
MIRT684053	hsa-miR-7843-5p	HITS-CLIP	23313552
MIRT684052	hsa-miR-4715-5p	HITS-CLIP	23313552
MIRT684051	hsa-miR-4259	HITS-CLIP	23313552
MIRT684050	hsa-miR-4272	HITS-CLIP	23313552
MIRT684049	hsa-miR-3973	HITS-CLIP	23313552
MIRT684048	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684047	hsa-miR-520h	HITS-CLIP	23313552
MIRT684046	hsa-miR-6847-5p	HITS-CLIP	23313552
MIRT684045	hsa-miR-4257	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684044	hsa-miR-29b-1-5p	HITS-CLIP	23313552
MIRT684043	hsa-miR-134-3p	HITS-CLIP	23313552
MIRT684040	hsa-miR-591	HITS-CLIP	23313552
MIRT684039	hsa-miR-5008-5p	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684036	hsa-miR-6081	HITS-CLIP	23313552
MIRT684035	hsa-miR-3167	HITS-CLIP	23313552
MIRT684034	hsa-miR-876-5p	HITS-CLIP	23313552
MIRT684033	hsa-miR-1207-5p	HITS-CLIP	23313552
MIRT684032	hsa-miR-4763-3p	HITS-CLIP	23313552
MIRT684031	hsa-miR-7974	HITS-CLIP	23313552
MIRT684030	hsa-miR-4687-3p	HITS-CLIP	23313552
MIRT684029	hsa-miR-6827-5p	HITS-CLIP	23313552
MIRT684028	hsa-miR-6090	HITS-CLIP	23313552
MIRT684027	hsa-miR-4300	HITS-CLIP	23313552
MIRT684026	hsa-miR-5591-5p	HITS-CLIP	23313552
MIRT684025	hsa-miR-6726-5p	HITS-CLIP	23313552
MIRT684024	hsa-miR-920	HITS-CLIP	23313552
MIRT684023	hsa-miR-6721-5p	HITS-CLIP	23313552
MIRT684022	hsa-miR-4656	HITS-CLIP	23313552
MIRT684021	hsa-miR-4489	HITS-CLIP	23313552
MIRT684020	hsa-miR-4283	HITS-CLIP	23313552
MIRT684019	hsa-miR-185-3p	HITS-CLIP	23313552
MIRT684018	hsa-miR-299-5p	HITS-CLIP	23313552
MIRT684017	hsa-miR-491-5p	HITS-CLIP	23313552
MIRT684016	hsa-miR-3151-5p	HITS-CLIP	23313552
MIRT684015	hsa-miR-4447	HITS-CLIP	23313552
MIRT684014	hsa-miR-4472	HITS-CLIP	23313552
MIRT684013	hsa-miR-6742-5p	HITS-CLIP	23313552
MIRT684012	hsa-miR-4425	HITS-CLIP	23313552
MIRT684011	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT684010	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT684009	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT684008	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT684007	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT684006	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT684005	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT684004	hsa-miR-3689c	HITS-CLIP	23313552
MIRT684003	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT684002	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT684001	hsa-miR-1231	HITS-CLIP	23313552
MIRT683999	hsa-miR-6796-5p	HITS-CLIP	23313552
MIRT683998	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT683997	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT684063	hsa-miR-4796-3p	HITS-CLIP	23313552
MIRT684062	hsa-miR-4643	HITS-CLIP	23313552
MIRT684061	hsa-miR-7153-3p	HITS-CLIP	23313552
MIRT684060	hsa-miR-6165	HITS-CLIP	23313552
MIRT684059	hsa-miR-3914	HITS-CLIP	23313552
MIRT684058	hsa-miR-4747-3p	HITS-CLIP	23313552
MIRT684057	hsa-miR-4436b-3p	HITS-CLIP	23313552
MIRT684056	hsa-miR-4632-5p	HITS-CLIP	23313552
MIRT684055	hsa-miR-6735-5p	HITS-CLIP	23313552
MIRT684054	hsa-miR-6879-5p	HITS-CLIP	23313552
MIRT684053	hsa-miR-7843-5p	HITS-CLIP	23313552
MIRT684052	hsa-miR-4715-5p	HITS-CLIP	23313552
MIRT684051	hsa-miR-4259	HITS-CLIP	23313552
MIRT684050	hsa-miR-4272	HITS-CLIP	23313552
MIRT684049	hsa-miR-3973	HITS-CLIP	23313552
MIRT684048	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT684047	hsa-miR-520h	HITS-CLIP	23313552
MIRT684046	hsa-miR-6847-5p	HITS-CLIP	23313552
MIRT684045	hsa-miR-4257	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684044	hsa-miR-29b-1-5p	HITS-CLIP	23313552
MIRT684043	hsa-miR-134-3p	HITS-CLIP	23313552
MIRT684042	hsa-miR-642a-3p	HITS-CLIP	23313552
MIRT684041	hsa-miR-642b-3p	HITS-CLIP	23313552
MIRT684040	hsa-miR-591	HITS-CLIP	23313552
MIRT684039	hsa-miR-5008-5p	HITS-CLIP	23313552
MIRT684038	hsa-miR-873-5p	HITS-CLIP	23313552
MIRT684037	hsa-miR-4746-3p	HITS-CLIP	23313552
MIRT684036	hsa-miR-6081	HITS-CLIP	23313552
MIRT684035	hsa-miR-3167	HITS-CLIP	23313552
MIRT684034	hsa-miR-876-5p	HITS-CLIP	23313552
MIRT684033	hsa-miR-1207-5p	HITS-CLIP	23313552
MIRT684032	hsa-miR-4763-3p	HITS-CLIP	23313552
MIRT684031	hsa-miR-7974	HITS-CLIP	23313552
MIRT684030	hsa-miR-4687-3p	HITS-CLIP	23313552
MIRT684029	hsa-miR-6827-5p	HITS-CLIP	23313552
MIRT684028	hsa-miR-6090	HITS-CLIP	23313552
MIRT684027	hsa-miR-4300	HITS-CLIP	23313552
MIRT684026	hsa-miR-5591-5p	HITS-CLIP	23313552
MIRT684025	hsa-miR-6726-5p	HITS-CLIP	23313552
MIRT684024	hsa-miR-920	HITS-CLIP	23313552
MIRT684023	hsa-miR-6721-5p	HITS-CLIP	23313552
MIRT684022	hsa-miR-4656	HITS-CLIP	23313552
MIRT684021	hsa-miR-4489	HITS-CLIP	23313552
MIRT684020	hsa-miR-4283	HITS-CLIP	23313552
MIRT684019	hsa-miR-185-3p	HITS-CLIP	23313552
MIRT684018	hsa-miR-299-5p	HITS-CLIP	23313552
MIRT684017	hsa-miR-491-5p	HITS-CLIP	23313552
MIRT684016	hsa-miR-3151-5p	HITS-CLIP	23313552
MIRT684015	hsa-miR-4447	HITS-CLIP	23313552
MIRT684014	hsa-miR-4472	HITS-CLIP	23313552
MIRT684013	hsa-miR-6742-5p	HITS-CLIP	23313552
MIRT684012	hsa-miR-4425	HITS-CLIP	23313552
MIRT684011	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT684010	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT684009	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT684008	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT684007	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT684006	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT684005	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT684004	hsa-miR-3689c	HITS-CLIP	23313552
MIRT684003	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT684002	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT684001	hsa-miR-1231	HITS-CLIP	23313552
MIRT684000	hsa-miR-147b	HITS-CLIP	23313552
MIRT683999	hsa-miR-6796-5p	HITS-CLIP	23313552
MIRT683998	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT683997	hsa-miR-887-5p	HITS-CLIP	23313552

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Transcription factor	Regulation	Reference
SP1	Unknown	12566316

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0003147	Process	Neural crest cell migration involved in heart formation	IEA
GO:0003147	Process	Neural crest cell migration involved in heart formation	ISS
GO:0003253	Process	Cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA
GO:0003253	Process	Cardiac neural crest cell migration involved in outflow tract morphogenesis	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005542	Function	Folic acid binding	IDA	2527252, 10787414, 14722620, 19116913, 23851396
GO:0005542	Function	Folic acid binding	IEA
GO:0005542	Function	Folic acid binding	NAS	1840502
GO:0005542	Function	Folic acid binding	TAS	9545095
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IDA	23243496
GO:0005768	Component	Endosome	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	1840502
GO:0006898	Process	Receptor-mediated endocytosis	TAS	9545095
GO:0007155	Process	Cell adhesion	IBA
GO:0007342	Process	Fusion of sperm to egg plasma membrane involved in single fertilization	IBA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IDA	2527252, 8033114
GO:0009986	Component	Cell surface	HDA	19581412
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0015884	Process	Folic acid transport	IMP	8033114
GO:0015884	Process	Folic acid transport	TAS	9545095
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	2768245, 10633085
GO:0016323	Component	Basolateral plasma membrane	IDA	10787414
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	10787414
GO:0016324	Component	Apical plasma membrane	IEA
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0017015	Process	Regulation of transforming growth factor beta receptor signaling pathway	ISS
GO:0030133	Component	Transport vesicle	TAS
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0031103	Process	Axon regeneration	IEA
GO:0031103	Process	Axon regeneration	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0035036	Process	Sperm-egg recognition	IBA
GO:0038023	Function	Signaling receptor activity	IBA
GO:0038023	Function	Signaling receptor activity	TAS	10633085
GO:0046654	Process	Tetrahydrofolate biosynthetic process	IEA
GO:0046655	Process	Folic acid metabolic process	IEA
GO:0048678	Process	Response to axon injury	IEA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IEA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	ISS
GO:0061626	Process	Pharyngeal arch artery morphogenesis	IEA
GO:0061626	Process	Pharyngeal arch artery morphogenesis	ISS
GO:0061713	Process	Anterior neural tube closure	IEA
GO:0061713	Process	Anterior neural tube closure	ISS
GO:0061714	Function	Folic acid receptor activity	IC
GO:0061714	Function	Folic acid receptor activity	IEA
GO:0061714	Function	Folic acid receptor activity	IMP	8033114
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:0071231	Process	Cellular response to folic acid	IDA	14722620
GO:0098552	Component	Side of membrane	IEA

MIM	HGNC	e!Ensembl
136430	3791	ENSG00000110195

P15328

Protein name

Folate receptor alpha (FR-alpha) (Adult folate-binding protein) (FBP) (Folate receptor 1) (Folate receptor, adult) (KB cells FBP) (Ovarian tumor-associated antigen MOv18)

Protein function

Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells (PubMed:19074442, PubMed:23851396, PubMed:23934049, PubMed:2527252, PubMed:8033114, PubMed:8567728

PDB

4KM6 , 4KM7 , 4KMX , 4LRH , 5IZQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03024	Folate_rec	36 → 211	Folate receptor family	Domain

Tissue specificity

TISSUE SPECIFICITY: Primarily expressed in tissues of epithelial origin. Expression is increased in malignant tissues. Expressed in kidney, lung and cerebellum. Detected in placenta and thymus epithelium. {ECO:0000269|PubMed:2527252, ECO:0000269|PubMed:27

Sequence

MAQRMTTQLLLLLVWVAVVGEAQTRIAWARTELLNVCMNAKHHKEKPGPEDKLHEQCRPW
RKNACCSTNTSQEAHKDVSYLYRFNWNHCGEMAPACKRHFIQDTCLYECSPNLGPWIQQV
DQSWRKERVLNVPLCKEDCEQWWEDCRTSYTCKSNWHKGWNWTSGFNKCAVGAACQPFHF
YFPTPTVLCNEIWTHSYKVSNYSRGSGRCIQMWFDPAQGNPNEEVARFYAAAMSGAGPWA
AWPFLLSLALMLLWLLS

Sequence length

257

Interactions

View interactions

	KEGG		Reactome
	Antifolate resistance Endocytosis Folate transport and metabolism		COPII-mediated vesicle transport Cargo concentration in the ER COPI-mediated anterograde transport

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral folate transport deficiency	Likely pathogenic; Pathogenic	rs369395654, rs2135388735, rs753776182, rs2135388308, rs767252235, rs2135389163, rs752503322, rs145674759, rs2539131119, rs121918405, rs121918406, rs121918843, rs952165627, rs1555069069, rs1591246507, rs1165021874 View all (1 more)	RCV001379409 RCV001386599 RCV001380189 RCV001783304 RCV001959157 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Likely pathogenic	rs1057518816	RCV000415252	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

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.
BRAIN DISEASES, METABOLIC, INBORN	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOLR1-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal stromal tumor	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign	ClinVar CTD	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE SYNDROME DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY	—	ClinGen, GWAS catalog, Orphanet ClinGen, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOMOTOR DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

FOLR1 (folate receptor alpha)