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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2332
Gene name Gene Name - the full gene name approved by the HGNC.	Fragile X messenger ribonucleoprotein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FMR1
Synonyms (NCBI Gene) Gene synonyms aliases	FMRP, FRAXA, POF, POF1
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq27.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5` UTR is normally found at 6-53 copies, but an exp

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121434622	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886041088	A>C,G,T	Pathogenic	Intron variant
rs886041089	G>A	Pathogenic	Splice donor variant
rs1057518038	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057518850	A>G	Likely-pathogenic	Splice acceptor variant
rs1557176576	GG>TA	Pathogenic	Non coding transcript variant, splice acceptor variant, coding sequence variant
rs1569545382	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1569545562	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569545763	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT007375	hsa-miR-101-3p	Luciferase reporter assay	23390134
MIRT007376	hsa-miR-129-5p	Luciferase reporter assay	23390134
MIRT007377	hsa-miR-221-3p	Luciferase reporter assay	23390134
MIRT030988	hsa-miR-21-5p	Microarray	18591254
MIRT109112	hsa-miR-130b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24021279
MIRT109112	hsa-miR-130b-3p	Luciferase reporter assay, qRT-PCR, Western blot	24021279
MIRT175699	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT175699	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT734698	hsa-miR-301b-3p	qRT-PCR	31484947
MIRT736366	hsa-miR-139-5p	Microarray	33426406
MIRT755633	hsa-miR-323a-3p	Microarray, qRT-PCR	35351128
MIRT999764	hsa-miR-1227	CLIP-seq
MIRT999765	hsa-miR-1267	CLIP-seq
MIRT999766	hsa-miR-1284	CLIP-seq
MIRT999767	hsa-miR-1305	CLIP-seq
MIRT999768	hsa-miR-141	CLIP-seq
MIRT999769	hsa-miR-146b-3p	CLIP-seq
MIRT999770	hsa-miR-153	CLIP-seq
MIRT999771	hsa-miR-181a	CLIP-seq
MIRT999772	hsa-miR-181b	CLIP-seq
MIRT999773	hsa-miR-181c	CLIP-seq
MIRT999774	hsa-miR-181d	CLIP-seq
MIRT999775	hsa-miR-1914	CLIP-seq
MIRT999776	hsa-miR-1976	CLIP-seq
MIRT999777	hsa-miR-200a	CLIP-seq
MIRT999778	hsa-miR-23a	CLIP-seq
MIRT999779	hsa-miR-23b	CLIP-seq
MIRT999780	hsa-miR-23c	CLIP-seq
MIRT999781	hsa-miR-25	CLIP-seq
MIRT999782	hsa-miR-3123	CLIP-seq
MIRT999783	hsa-miR-3163	CLIP-seq
MIRT999784	hsa-miR-3173-5p	CLIP-seq
MIRT999785	hsa-miR-32	CLIP-seq
MIRT999786	hsa-miR-363	CLIP-seq
MIRT999787	hsa-miR-367	CLIP-seq
MIRT999788	hsa-miR-3671	CLIP-seq
MIRT999789	hsa-miR-3919	CLIP-seq
MIRT999790	hsa-miR-3941	CLIP-seq
MIRT999791	hsa-miR-4262	CLIP-seq
MIRT999792	hsa-miR-4263	CLIP-seq
MIRT999793	hsa-miR-4276	CLIP-seq
MIRT999794	hsa-miR-4279	CLIP-seq
MIRT999795	hsa-miR-4325	CLIP-seq
MIRT999796	hsa-miR-4327	CLIP-seq
MIRT999797	hsa-miR-4328	CLIP-seq
MIRT999798	hsa-miR-4421	CLIP-seq
MIRT999799	hsa-miR-4427	CLIP-seq
MIRT999800	hsa-miR-4474-5p	CLIP-seq
MIRT999801	hsa-miR-448	CLIP-seq
MIRT999802	hsa-miR-4503	CLIP-seq
MIRT999803	hsa-miR-4517	CLIP-seq
MIRT999804	hsa-miR-4643	CLIP-seq
MIRT999805	hsa-miR-4659a-3p	CLIP-seq
MIRT999806	hsa-miR-4659b-3p	CLIP-seq
MIRT999807	hsa-miR-466	CLIP-seq
MIRT999808	hsa-miR-4668-3p	CLIP-seq
MIRT999809	hsa-miR-4672	CLIP-seq
MIRT999810	hsa-miR-4774-3p	CLIP-seq
MIRT999811	hsa-miR-4789-3p	CLIP-seq
MIRT999812	hsa-miR-4796-5p	CLIP-seq
MIRT999813	hsa-miR-4797-5p	CLIP-seq
MIRT999814	hsa-miR-4803	CLIP-seq
MIRT999815	hsa-miR-495	CLIP-seq
MIRT999816	hsa-miR-511	CLIP-seq
MIRT999817	hsa-miR-561	CLIP-seq
MIRT999818	hsa-miR-576-5p	CLIP-seq
MIRT999819	hsa-miR-607	CLIP-seq
MIRT999820	hsa-miR-628-5p	CLIP-seq
MIRT999821	hsa-miR-760	CLIP-seq
MIRT999822	hsa-miR-874	CLIP-seq
MIRT999823	hsa-miR-9	CLIP-seq
MIRT999824	hsa-miR-92a	CLIP-seq
MIRT999825	hsa-miR-92b	CLIP-seq
MIRT999826	hsa-miR-942	CLIP-seq
MIRT999827	hsa-miR-132	CLIP-seq
MIRT999828	hsa-miR-194	CLIP-seq
MIRT999829	hsa-miR-212	CLIP-seq
MIRT999830	hsa-miR-3127-5p	CLIP-seq
MIRT999831	hsa-miR-3148	CLIP-seq
MIRT999832	hsa-miR-3647-3p	CLIP-seq
MIRT999833	hsa-miR-3653	CLIP-seq
MIRT999834	hsa-miR-3658	CLIP-seq
MIRT999835	hsa-miR-3662	CLIP-seq
MIRT999836	hsa-miR-3688-3p	CLIP-seq
MIRT999837	hsa-miR-377	CLIP-seq
MIRT999838	hsa-miR-3978	CLIP-seq
MIRT999839	hsa-miR-4422	CLIP-seq
MIRT999840	hsa-miR-4653-3p	CLIP-seq
MIRT999841	hsa-miR-499-3p	CLIP-seq
MIRT999842	hsa-miR-499a-3p	CLIP-seq
MIRT999843	hsa-miR-935	CLIP-seq
MIRT1996337	hsa-miR-1179	CLIP-seq
MIRT1996338	hsa-miR-1245b-3p	CLIP-seq
MIRT999766	hsa-miR-1284	CLIP-seq
MIRT999828	hsa-miR-194	CLIP-seq
MIRT1996339	hsa-miR-203	CLIP-seq
MIRT999830	hsa-miR-3127-5p	CLIP-seq
MIRT999837	hsa-miR-377	CLIP-seq
MIRT999793	hsa-miR-4276	CLIP-seq
MIRT1996340	hsa-miR-433	CLIP-seq
MIRT1996341	hsa-miR-4436a	CLIP-seq
MIRT999803	hsa-miR-4517	CLIP-seq
MIRT1996342	hsa-miR-4700-3p	CLIP-seq
MIRT999841	hsa-miR-499-3p	CLIP-seq
MIRT999842	hsa-miR-499a-3p	CLIP-seq
MIRT1996343	hsa-miR-548k	CLIP-seq
MIRT1996344	hsa-miR-642b	CLIP-seq
MIRT1996345	hsa-miR-570	CLIP-seq
MIRT999766	hsa-miR-1284	CLIP-seq
MIRT2230286	hsa-miR-130a	CLIP-seq
MIRT2230287	hsa-miR-130b	CLIP-seq
MIRT2230288	hsa-miR-148a	CLIP-seq
MIRT2230289	hsa-miR-148b	CLIP-seq
MIRT2230290	hsa-miR-152	CLIP-seq
MIRT2230291	hsa-miR-2278	CLIP-seq
MIRT2230292	hsa-miR-301a	CLIP-seq
MIRT2230293	hsa-miR-301b	CLIP-seq
MIRT2230294	hsa-miR-302a	CLIP-seq
MIRT2230295	hsa-miR-302b	CLIP-seq
MIRT2230296	hsa-miR-302c	CLIP-seq
MIRT2230297	hsa-miR-302d	CLIP-seq
MIRT2230298	hsa-miR-302e	CLIP-seq
MIRT2230299	hsa-miR-3666	CLIP-seq
MIRT2230300	hsa-miR-372	CLIP-seq
MIRT2230301	hsa-miR-373	CLIP-seq
MIRT2230302	hsa-miR-4295	CLIP-seq
MIRT2230303	hsa-miR-454	CLIP-seq
MIRT2230304	hsa-miR-520a-3p	CLIP-seq
MIRT2230305	hsa-miR-520b	CLIP-seq
MIRT2230306	hsa-miR-520c-3p	CLIP-seq
MIRT2230307	hsa-miR-520d-3p	CLIP-seq
MIRT2230308	hsa-miR-520e	CLIP-seq
MIRT2230309	hsa-miR-548a-5p	CLIP-seq
MIRT2230310	hsa-miR-548ab	CLIP-seq
MIRT2230311	hsa-miR-548ak	CLIP-seq
MIRT2230312	hsa-miR-548b-5p	CLIP-seq
MIRT2230313	hsa-miR-548c-5p	CLIP-seq
MIRT2230314	hsa-miR-548d-5p	CLIP-seq
MIRT2230315	hsa-miR-548h	CLIP-seq
MIRT2230316	hsa-miR-548i	CLIP-seq
MIRT2230317	hsa-miR-548j	CLIP-seq
MIRT1996343	hsa-miR-548k	CLIP-seq
MIRT2230318	hsa-miR-548l	CLIP-seq
MIRT2230319	hsa-miR-548w	CLIP-seq
MIRT2230320	hsa-miR-548y	CLIP-seq
MIRT2230321	hsa-miR-559	CLIP-seq
MIRT999819	hsa-miR-607	CLIP-seq
MIRT999843	hsa-miR-935	CLIP-seq
MIRT1996337	hsa-miR-1179	CLIP-seq
MIRT1996338	hsa-miR-1245b-3p	CLIP-seq
MIRT999766	hsa-miR-1284	CLIP-seq
MIRT2230322	hsa-miR-19a	CLIP-seq
MIRT2230323	hsa-miR-19b	CLIP-seq
MIRT1996339	hsa-miR-203	CLIP-seq
MIRT2230324	hsa-miR-3545-3p	CLIP-seq
MIRT1996340	hsa-miR-433	CLIP-seq
MIRT999803	hsa-miR-4517	CLIP-seq
MIRT2230325	hsa-miR-4708-3p	CLIP-seq
MIRT999841	hsa-miR-499-3p	CLIP-seq
MIRT999842	hsa-miR-499a-3p	CLIP-seq
MIRT2230326	hsa-miR-548aa	CLIP-seq
MIRT1996345	hsa-miR-570	CLIP-seq
MIRT2230327	hsa-miR-600	CLIP-seq
MIRT2534134	hsa-miR-101	CLIP-seq
MIRT1996337	hsa-miR-1179	CLIP-seq
MIRT2534135	hsa-miR-1238	CLIP-seq
MIRT2534136	hsa-miR-125a-5p	CLIP-seq
MIRT2534137	hsa-miR-125b	CLIP-seq
MIRT2534138	hsa-miR-1263	CLIP-seq
MIRT999765	hsa-miR-1267	CLIP-seq
MIRT999766	hsa-miR-1284	CLIP-seq
MIRT2534139	hsa-miR-1286	CLIP-seq
MIRT2534140	hsa-miR-144	CLIP-seq
MIRT999769	hsa-miR-146b-3p	CLIP-seq
MIRT999770	hsa-miR-153	CLIP-seq
MIRT2534141	hsa-miR-1827	CLIP-seq
MIRT2534142	hsa-miR-186	CLIP-seq
MIRT2534143	hsa-miR-1913	CLIP-seq
MIRT1996339	hsa-miR-203	CLIP-seq
MIRT2534144	hsa-miR-205	CLIP-seq
MIRT2534145	hsa-miR-221	CLIP-seq
MIRT2534146	hsa-miR-222	CLIP-seq
MIRT2230291	hsa-miR-2278	CLIP-seq
MIRT999778	hsa-miR-23a	CLIP-seq
MIRT999779	hsa-miR-23b	CLIP-seq
MIRT999780	hsa-miR-23c	CLIP-seq
MIRT999781	hsa-miR-25	CLIP-seq
MIRT999782	hsa-miR-3123	CLIP-seq
MIRT2534147	hsa-miR-3143	CLIP-seq
MIRT999783	hsa-miR-3163	CLIP-seq
MIRT999784	hsa-miR-3173-5p	CLIP-seq
MIRT999785	hsa-miR-32	CLIP-seq
MIRT2534148	hsa-miR-3200-3p	CLIP-seq
MIRT2534149	hsa-miR-323-3p	CLIP-seq
MIRT2534150	hsa-miR-324-3p	CLIP-seq
MIRT2534151	hsa-miR-335	CLIP-seq
MIRT2534152	hsa-miR-34c-3p	CLIP-seq
MIRT2534153	hsa-miR-3591-5p	CLIP-seq
MIRT999786	hsa-miR-363	CLIP-seq
MIRT999833	hsa-miR-3653	CLIP-seq
MIRT999834	hsa-miR-3658	CLIP-seq
MIRT999787	hsa-miR-367	CLIP-seq
MIRT999789	hsa-miR-3919	CLIP-seq
MIRT2534154	hsa-miR-3974	CLIP-seq
MIRT2534155	hsa-miR-410	CLIP-seq
MIRT2534156	hsa-miR-4255	CLIP-seq
MIRT2534157	hsa-miR-4257	CLIP-seq
MIRT999793	hsa-miR-4276	CLIP-seq
MIRT2534158	hsa-miR-4319	CLIP-seq
MIRT999795	hsa-miR-4325	CLIP-seq
MIRT999796	hsa-miR-4327	CLIP-seq
MIRT999797	hsa-miR-4328	CLIP-seq
MIRT1996340	hsa-miR-433	CLIP-seq
MIRT1996341	hsa-miR-4436a	CLIP-seq
MIRT999801	hsa-miR-448	CLIP-seq
MIRT999803	hsa-miR-4517	CLIP-seq
MIRT2534159	hsa-miR-4539	CLIP-seq
MIRT999840	hsa-miR-4653-3p	CLIP-seq
MIRT999808	hsa-miR-4668-3p	CLIP-seq
MIRT2534160	hsa-miR-4680-5p	CLIP-seq
MIRT1996342	hsa-miR-4700-3p	CLIP-seq
MIRT2534161	hsa-miR-4719	CLIP-seq
MIRT2534162	hsa-miR-4722-5p	CLIP-seq
MIRT2534163	hsa-miR-4732-3p	CLIP-seq
MIRT2534164	hsa-miR-4738-3p	CLIP-seq
MIRT2534165	hsa-miR-4797-3p	CLIP-seq
MIRT999813	hsa-miR-4797-5p	CLIP-seq
MIRT999814	hsa-miR-4803	CLIP-seq
MIRT2534166	hsa-miR-493	CLIP-seq
MIRT999815	hsa-miR-495	CLIP-seq
MIRT999841	hsa-miR-499-3p	CLIP-seq
MIRT999842	hsa-miR-499a-3p	CLIP-seq
MIRT2534167	hsa-miR-505	CLIP-seq
MIRT2534168	hsa-miR-522	CLIP-seq
MIRT2534169	hsa-miR-543	CLIP-seq
MIRT2534170	hsa-miR-548a-3p	CLIP-seq
MIRT2534171	hsa-miR-548e	CLIP-seq
MIRT2534172	hsa-miR-548f	CLIP-seq
MIRT2534173	hsa-miR-548v	CLIP-seq
MIRT1996345	hsa-miR-570	CLIP-seq
MIRT2534174	hsa-miR-624	CLIP-seq
MIRT1996344	hsa-miR-642b	CLIP-seq
MIRT2534175	hsa-miR-670	CLIP-seq
MIRT999821	hsa-miR-760	CLIP-seq
MIRT2534176	hsa-miR-767-3p	CLIP-seq
MIRT999822	hsa-miR-874	CLIP-seq
MIRT999824	hsa-miR-92a	CLIP-seq
MIRT999825	hsa-miR-92b	CLIP-seq
MIRT999843	hsa-miR-935	CLIP-seq
MIRT2534177	hsa-miR-944	CLIP-seq
MIRT1996337	hsa-miR-1179	CLIP-seq
MIRT999765	hsa-miR-1267	CLIP-seq
MIRT999770	hsa-miR-153	CLIP-seq
MIRT1996339	hsa-miR-203	CLIP-seq
MIRT2230291	hsa-miR-2278	CLIP-seq
MIRT999781	hsa-miR-25	CLIP-seq
MIRT999782	hsa-miR-3123	CLIP-seq
MIRT2534147	hsa-miR-3143	CLIP-seq
MIRT999783	hsa-miR-3163	CLIP-seq
MIRT999785	hsa-miR-32	CLIP-seq
MIRT2534149	hsa-miR-323-3p	CLIP-seq
MIRT2534151	hsa-miR-335	CLIP-seq
MIRT2534153	hsa-miR-3591-5p	CLIP-seq
MIRT999786	hsa-miR-363	CLIP-seq
MIRT999787	hsa-miR-367	CLIP-seq
MIRT999789	hsa-miR-3919	CLIP-seq
MIRT2534154	hsa-miR-3974	CLIP-seq
MIRT2534156	hsa-miR-4255	CLIP-seq
MIRT999795	hsa-miR-4325	CLIP-seq
MIRT999796	hsa-miR-4327	CLIP-seq
MIRT1996341	hsa-miR-4436a	CLIP-seq
MIRT999801	hsa-miR-448	CLIP-seq
MIRT999803	hsa-miR-4517	CLIP-seq
MIRT999808	hsa-miR-4668-3p	CLIP-seq
MIRT1996342	hsa-miR-4700-3p	CLIP-seq
MIRT2534164	hsa-miR-4738-3p	CLIP-seq
MIRT999813	hsa-miR-4797-5p	CLIP-seq
MIRT999814	hsa-miR-4803	CLIP-seq
MIRT2534167	hsa-miR-505	CLIP-seq
MIRT2534169	hsa-miR-543	CLIP-seq
MIRT2534174	hsa-miR-624	CLIP-seq
MIRT1996344	hsa-miR-642b	CLIP-seq
MIRT999824	hsa-miR-92a	CLIP-seq
MIRT999825	hsa-miR-92b	CLIP-seq
MIRT999843	hsa-miR-935	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
MYC	Unknown	9328468
NRF1	Activation	11058604;16500891
NRF1	Unknown	15175277;9302255;9328468
SP1	Activation	16500891
SP1	Unknown	10612627;15175277;9328468
USF1	Activation	11058604
USF1	Unknown	15175277
USF2	Activation	11058604
USF2	Unknown	15175277

Show/Hide all(170)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000290	Process	Deadenylation-dependent decapping of nuclear-transcribed mRNA	IDA	31439799
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IDA	18653529
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0002092	Process	Positive regulation of receptor internalization	IDA	25561520
GO:0002151	Function	G-quadruplex RNA binding	EXP	21642970, 26374839
GO:0002151	Function	G-quadruplex RNA binding	IDA	18653529, 25464849
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IDA	15381419
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IMP	10496225
GO:0003723	Function	RNA binding	TAS	8156595
GO:0003729	Function	MRNA binding	IDA	11157796, 18936162, 25561520, 30765518, 31439799
GO:0003729	Function	MRNA binding	IEA
GO:0003729	Function	MRNA binding	TAS	7692601
GO:0003730	Function	MRNA 3'-UTR binding	IBA
GO:0003730	Function	MRNA 3'-UTR binding	IDA	17417632
GO:0003730	Function	MRNA 3'-UTR binding	IEA
GO:0005515	Function	Protein binding	IPI	7489725, 10556305, 11157796, 11438699, 12837692, 15380484, 15381419, 16407062, 16571602, 18093976, 18936162, 21653829, 21771594, 24514761, 24658146, 24981860, 25416956, 25464849, 26949739, 31413325, 31439799, 32525608, 32814053, 33961781, 36950384, 37207277, 39251607
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	31753916
GO:0005634	Component	Nucleus	IDA	18936162, 24204304
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA	16571602
GO:0005654	Component	Nucleoplasm	TAS	10888599
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0005730	Component	Nucleolus	IDA	16571602, 24658146
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	TAS	16407062
GO:0005737	Component	Cytoplasm	IDA	9259278
GO:0005737	Component	Cytoplasm	IDA	9659908, 15381419, 16571602, 18936162, 19097999, 24204304, 25464849, 25561520
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	16407062
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006281	Process	DNA repair	IDA	24813610
GO:0006281	Process	DNA repair	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0006406	Process	MRNA export from nucleus	IDA	31753916
GO:0006406	Process	MRNA export from nucleus	IEA
GO:0006406	Process	MRNA export from nucleus	ISS	31340148
GO:0006417	Process	Regulation of translation	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0008017	Function	Microtubule binding	ISS
GO:0008266	Function	Poly(U) RNA binding	IDA	7688265, 8156595, 24204304
GO:0008380	Process	RNA splicing	IEA
GO:0010369	Component	Chromocenter	ISS
GO:0010494	Component	Cytoplasmic stress granule	IBA
GO:0010494	Component	Cytoplasmic stress granule	IDA	12417522
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0010646	Process	Regulation of cell communication	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0015030	Component	Cajal body	IDA	24204304
GO:0015030	Component	Cajal body	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0017148	Process	Negative regulation of translation	IDA	12417522, 30765518, 31439799
GO:0030371	Function	Translation repressor activity	IDA	11157796
GO:0030371	Function	Translation repressor activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030426	Component	Growth cone	IDA	15380484
GO:0030426	Component	Growth cone	IEA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0031369	Function	Translation initiation factor binding	IPI	24658146
GO:0032433	Component	Filopodium tip	IEA
GO:0032433	Component	Filopodium tip	ISS
GO:0032797	Component	SMN complex	IDA	18093976
GO:0033592	Function	RNA strand annealing activity	IDA	17057366
GO:0034046	Function	Poly(G) binding	IDA	7688265, 24204304
GO:0034063	Process	Stress granule assembly	IDA	12417522
GO:0035197	Function	SiRNA binding	IDA	17057366
GO:0035198	Function	MiRNA binding	IDA	17057366
GO:0035198	Function	MiRNA binding	IEA
GO:0035591	Function	Signaling adaptor activity	IDA	31439799
GO:0035613	Function	RNA stem-loop binding	IDA	15805463, 19166269
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA	15121898, 15380484, 18093976
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IDA	11157796
GO:0042802	Function	Identical protein binding	IPI	17850748, 21446998, 31413325
GO:0042803	Function	Protein homodimerization activity	IDA	7489725
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042995	Component	Cell projection	IDA	15380484
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IDA	18093976
GO:0043005	Component	Neuron projection	IEA
GO:0043022	Function	Ribosome binding	IPI	24658146
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0043204	Component	Perikaryon	IDA	15380484, 18093976
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0043232	Component	Intracellular membraneless organelle	IDA	31439799
GO:0043488	Process	Regulation of mRNA stability	IBA
GO:0043488	Process	Regulation of mRNA stability	ISS
GO:0043679	Component	Axon terminus	ISS
GO:0044325	Function	Transmembrane transporter binding	IPI	25561520
GO:0044830	Process	Host-mediated perturbation of viral RNA genome replication	IMP	24514761
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045182	Function	Translation regulator activity	IBA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045727	Process	Positive regulation of translation	IBA
GO:0045727	Process	Positive regulation of translation	IDA	19097999, 19166269
GO:0045727	Process	Positive regulation of translation	IEA
GO:0045947	Process	Negative regulation of translational initiation	IDA	30765518
GO:0045947	Process	Negative regulation of translational initiation	ISS
GO:0046928	Process	Regulation of neurotransmitter secretion	ISS
GO:0046982	Function	Protein heterodimerization activity	IDA	7489725
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0048027	Function	MRNA 5'-UTR binding	IDA	19166269
GO:0048170	Process	Positive regulation of long-term neuronal synaptic plasticity	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	24658146
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048513	Process	Animal organ development	IBA
GO:0051028	Process	MRNA transport	IBA
GO:0051028	Process	MRNA transport	IEA
GO:0051028	Process	MRNA transport	ISS
GO:0051130	Process	Positive regulation of cellular component organization	IEA
GO:0051489	Process	Regulation of filopodium assembly	IDA	16631377
GO:0051489	Process	Regulation of filopodium assembly	IEA
GO:0051491	Process	Positive regulation of filopodium assembly	ISS
GO:0060965	Process	Negative regulation of miRNA-mediated gene silencing	IMP	25464849
GO:0060998	Process	Regulation of dendritic spine development	IDA	16631377
GO:0060998	Process	Regulation of dendritic spine development	IEA
GO:0060999	Process	Positive regulation of dendritic spine development	ISS
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070840	Function	Dynein complex binding	ISS
GO:0071598	Component	Neuronal ribonucleoprotein granule	IDA	30765518
GO:0071598	Component	Neuronal ribonucleoprotein granule	IEA
GO:0071598	Component	Neuronal ribonucleoprotein granule	ISS
GO:0097386	Component	Glial cell projection	ISS
GO:0098586	Process	Cellular response to virus	IDA	24514761
GO:0098793	Component	Presynapse	ISS
GO:0098794	Component	Postsynapse	ISS
GO:0098908	Process	Regulation of neuronal action potential	IDA	25561520
GO:0099577	Process	Regulation of translation at presynapse, modulating synaptic transmission	IBA
GO:0140006	Function	Histone H3 reader activity	IDA	24813610
GO:0140693	Function	Molecular condensate scaffold activity	EXP	31439799
GO:0140693	Function	Molecular condensate scaffold activity	IDA	30765518, 31439799
GO:0140693	Function	Molecular condensate scaffold activity	IPI	31439799
GO:0140694	Process	Membraneless organelle assembly	IDA	31439799
GO:0140694	Process	Membraneless organelle assembly	IDA	30765518, 31439799
GO:1900453	Process	Negative regulation of long-term synaptic depression	ISS
GO:1901254	Process	Positive regulation of intracellular transport of viral material	IMP	24514761
GO:1901386	Process	Negative regulation of voltage-gated calcium channel activity	ISS
GO:1901800	Process	Positive regulation of proteasomal protein catabolic process	ISS
GO:1902737	Component	Dendritic filopodium	ISS
GO:1990247	Function	N6-methyladenosine-containing RNA reader activity	IDA	31753916
GO:1990247	Function	N6-methyladenosine-containing RNA reader activity	IEA
GO:1990812	Component	Growth cone filopodium	ISS
GO:1990825	Function	Sequence-specific mRNA binding	IDA	12927206, 23235829
GO:1990904	Component	Ribonucleoprotein complex	IDA	9659908
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:2000301	Process	Negative regulation of synaptic vesicle exocytosis	ISS
GO:2000637	Process	Positive regulation of miRNA-mediated gene silencing	IDA	17057366
GO:2000766	Process	Negative regulation of cytoplasmic translation	ISS

MIM	HGNC	e!Ensembl
309550	3775	ENSG00000102081

Protein

UniProt ID

Q06787

Protein name

Fragile X messenger ribonucleoprotein 1 (Fragile X messenger ribonucleoprotein) (FMRP) (Protein FMR-1)

Protein function

Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic

PDB

2BKD , 2FMR , 2LA5 , 2QND , 4OVA , 4QVZ , 4QW2 , 5DE5 , 5DE8 , 5DEA , 5UWJ , 5UWO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18336	Tudor_FRX1	4 → 52	Fragile X mental retardation Tudor domain	Domain
PF05641	Agenet	62 → 117	Agenet domain	Domain
PF17904	KH_9	123 → 207	FMRP KH0 domain	Domain
PF00013	KH_1	220 → 280	KH domain	Domain
PF00013	KH_1	283 → 333	KH domain	Domain
PF12235	FXMRP1_C_core	420 → 547	Fragile X-related 1 protein core C terminal	Family
PF16098	FXMR_C2	549 → 632	Fragile X-related mental retardation protein C-terminal region 2	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the brain, cerebellum and testis (PubMed:8401578, PubMed:9259278). Also expressed in epithelial tissues (PubMed:8401578). Expressed in mature oligodendrocytes (OLGs) (PubMed:23891804). Expressed in fibroblast (PubMed:24204

Sequence

MEELVVEVRGSNGAFYKAFVKDVHEDSITVAFENNWQPDRQIPFHDVRFPPPVGYNKDIN
ESDEVEVYSRANEKEPCCWWLAKVRMIKGEFYVIEYAACDATYNEIVTIERLRSVNPNKP
ATKDTFHKIKLDVPEDLRQMCAKEAAHKDFKKAVGAFSVTYDPENYQLVILSINEVTSKR
AHMLIDMHFRSLRTKLSLIMRNEEASKQLESSRQLASRFHEQFIVREDLMGLAIGTHGAN
IQQARKVPGVTAIDLDEDTCTFHIYGEDQDAVKKARSFLEFAEDVIQVPRNLVGKVIGKN
GKLIQEIVDKSGVVRVRIEAENEKNVPQEEEIMPPNSLPSNNSRVGPNAPEEKKHLDIKE
NSTHFSQPNSTKVQRVLVASSVVAGESQKPELKAWQGMVPFVFVGTKDSIANATVLLDYH
LNYLKEVDQLRLERLQIDEQLRQIGASSRPPPNRTDKEKSYVTDDGQGMGRGSRPYRNRG
HGRRGPGYTSGTNSEASNASETESDHRDELSDWSLAPTEEERESFLRRGDGRRRGGGGRG
QGGRGRGGGFKGNDDHSRTDNRPRNPREAKGRTTDGSLQIRVDCNNERSVHTKTLQNTSS
EGSRLRTGKDRNQKKEKPDSVDGQQPLVNGVP

Sequence length

632

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Fragile X Syndrome	fragile x syndrome	rs121434622, rs1569545562, rs1557176576, rs1569545382, rs193922936	N/A
Mental retardation	intellectual disability	rs886041088, rs886041089	N/A

Show/Hide Text Mining Associations (181)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	17161622, 34413513
Abortion Habitual	Associate	24423935, 31096929, 31625034
Abortion Spontaneous	Associate	29054962, 31625034
Adenocarcinoma	Associate	36133437
Agnosia	Associate	24521091
Agoraphobia	Associate	31899609
Alcohol Related Disorders	Associate	26802682, 30385191, 31899609
Alzheimer Disease	Associate	25111034, 32161452, 37769462
Amenorrhea	Associate	21944929
Amyotrophic Lateral Sclerosis	Associate	28424484
Amyotrophic lateral sclerosis 1	Associate	33871026
Aneuploidy	Associate	25307758
Anxiety	Associate	19842197, 19996900, 22149120, 22573456, 23146966, 24003006, 30385191, 30396281, 31899609, 40243429
Anxiety Disorders	Associate	23786467, 24003006, 28895261
Arrhythmia Sinus	Associate	40076819
Ataxia	Associate	15065016, 18165273, 18165276, 18273822, 19996900, 21237174, 21484870, 21567456, 21639881, 21926154, 25366135, 27883256, 31553368, 32089525, 35701103, 38132093 View all (1 more)
Atrophy	Associate	29299012
Attention Deficit and Disruptive Behavior Disorders	Associate	36434514, 40243429
Attention Deficit Disorder with Hyperactivity	Associate	19996900, 20059484, 21291994, 21344625, 21427756, 22101959, 23786467, 30385191, 31880363, 31899609, 37120588
Auditory Perceptual Disorders	Associate	24521091
Autism Spectrum Disorder	Associate	19996900, 21926154, 21935445, 22001913, 22022567, 22543975, 23849776, 24207117, 24432860, 25055869, 25271084, 26239490, 28422133, 30385191, 30559470 View all (14 more)
Autistic Disorder	Associate	15000256, 18165273, 18565783, 21427756, 21901840, 21935445, 22542183, 22693142, 22767137, 23042784, 24463508, 24876161, 26374839, 27001315, 27880953 View all (10 more)
Autistic Disorder	Inhibit	23778581, 25956630
Autoimmune Diseases	Associate	18384784, 21179569, 34065644, 34789272
Autoimmune Diseases of the Nervous System	Associate	18384784
Basal Ganglia Diseases	Associate	31158927
Bipolar Disorder	Associate	25956630, 32576818, 33077856
Brain Diseases	Associate	26239490
Breast Neoplasms	Associate	29144507, 39389065
Carcinogenesis	Associate	36347844
Carcinoma Renal Cell	Associate	35942760, 37379126
Cardiomyopathies	Associate	37041267
CD59 Deficiency	Associate	25399540
Cerebellar Ataxia	Associate	34498198
Cerebellar Diseases	Associate	27259564, 31158927
Cerebral Palsy	Associate	20558944
Chordoma	Associate	23533570
Chromosome Aberrations	Associate	16085940, 29986653
Chromosome Fragility	Associate	24419320
Chronobiology Disorders	Associate	31765665, 37252957
Cognition Disorders	Associate	18273822, 21270637, 21291994, 21295394, 22542183, 23307923, 24521091, 25111034, 25498860, 25925982, 25956630, 26239490, 27335370, 28407408, 28929824 View all (4 more)
Cognition Disorders	Stimulate	28972453
Cognitive Dysfunction	Associate	25809302, 35026985
Colorectal Neoplasms	Stimulate	36347844
Colorectal Neoplasms	Associate	37194014
Congenital Abnormalities	Associate	24634123
Congenital Disorder Of Glycosylation Type I IIX	Associate	12232854
Connective Tissue Diseases	Associate	36012355
Conversion Disorder	Associate	19842197, 27646161
COVID 19	Associate	35664076
Dementia	Associate	17591512, 18165273
Dentin Sensitivity	Associate	26212380
Depressive Disorder	Associate	19842197, 19996900, 22149120, 22573456, 23373759, 30385191, 31899609, 35246105, 37120588
Depressive Disorder Major	Inhibit	23778581, 25956630
Depressive Disorder Major	Associate	28895261, 33077856
Developmental Disabilities	Associate	10424820, 18565783, 20799337, 22549406, 23634718, 25271084, 27880953, 29595813, 29747568, 32985615, 33373777, 33911031, 33911214, 36884289
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	34605097
Disruptive Impulse Control and Conduct Disorders	Associate	30665341, 31161414
Drug Related Side Effects and Adverse Reactions	Associate	19842197, 24028275, 25358671, 28888471, 29474364, 36434514
Dysarthria	Associate	20702130
Ehlers Danlos Syndrome	Associate	34193467
Embryo Loss	Associate	25036526
Encephalitis Herpes Simplex	Associate	33420492
Endocrine System Diseases	Associate	26212380
Endometrial Neoplasms	Associate	34347888, 34889221
Epilepsies Partial	Associate	12418611
Epilepsy	Associate	10424820, 12418611, 22549406
Esophageal Neoplasms	Associate	36159855
Essential Tremor	Associate	25796179
Eye Diseases	Associate	28972453
Facial Dysmorphism with Multiple Malformations	Associate	19844254, 8037202
Fetal Alcohol Spectrum Disorders	Associate	32608992, 40243429
Fibromyalgia	Associate	19367323, 19842197, 21926154, 23373759
Fragile X Syndrome	Associate	10364521, 10368286, 10397799, 10409756, 10424820, 10441574, 10496225, 10631132, 10710419, 10874635, 10922388, 10924524, 10986352, 11073538, 11229516 View all (368 more)
Fragile X Syndrome	Inhibit	10773084, 12232854, 13130134, 15096575, 17449730, 17850748, 17965627, 18832455, 19525339, 19844254, 19927162, 20118148, 22022567, 23660422, 23778581 View all (11 more)
Fragile X Tremor Ataxia Syndrome	Associate	15000674, 15065016, 15862312, 17179750, 17591512, 17962727, 18057320, 18165276, 18234731, 18273822, 18348275, 18565783, 18608667, 18695063, 19367323 View all (114 more)
Friedreich Ataxia	Associate	24787137
Gait Disorders Neurologic	Associate	37347418
Genetic Diseases Inborn	Associate	18413472, 21446998, 28967713, 28972453, 37120588
Genetic Diseases X Linked	Associate	9391884
Growth Disorders	Associate	19844254
Headache	Associate	31896764
Heart Diseases	Associate	21783174, 27739609, 27959330
Hemophilia B	Associate	30264515
Hepatitis B	Associate	33883220
Huntington Disease	Associate	27555610
Hyperkinesis	Associate	22549406
Hyperlipoproteinemia Type III	Associate	28972453
Hypersensitivity Delayed	Associate	40287634
Hypertension	Associate	19367323, 19842197, 19996900
Hypogonadism	Associate	19844254
Hypothyroidism	Associate	19996900, 23373759
Hypoxia	Inhibit	34605097
Hypoxia Ischemia Brain	Associate	26239490
Immune System Diseases	Associate	23786467
Immunologic Deficiency Syndromes	Associate	12418611
Infertility	Associate	19642041, 22427263, 22963248, 24003006, 28454580, 32155011, 39408972
Infertility Female	Associate	19642041, 30576349
Infertility Male	Associate	32155011
Inflammation	Associate	27555610, 34789272
Intellectual Disability	Associate	10424820, 10922388, 12136110, 15000256, 17117359, 1757958, 19844254, 20417602, 21427756, 21926154, 23219959, 23739124, 24903624, 27001315, 27378697 View all (23 more)
Internal Hernia	Associate	24832235
Keloid	Associate	33649815
Klinefelter Syndrome	Associate	19804849, 29170104
Language Disorders	Associate	23523717, 26895548, 33813684
Learning Disabilities	Associate	24521091, 27880953, 28818679, 33911031
Left Right Axis Malformations	Associate	34020265
Leukoencephalopathies	Associate	21484870, 25925982
Liver Diseases	Associate	32525608
Liver Diseases	Inhibit	33883220
Lung Neoplasms	Associate	7668289
Lymphoblastic Transformation Inhibition of	Associate	31887710, 35279590
Melanoma	Associate	29144507
Menopause Premature	Associate	16085940, 9399905
Mental Disorders	Associate	1570349, 21639881, 24003006, 24428240, 24832235, 25809302, 28422133, 31899609, 32576818, 32678152, 33077856, 35246105, 37120588, 40243429, 7825604
Mental Retardation Autosomal Recessive 1	Associate	21267007
Mental Retardation X Linked	Associate	19844254, 8651263
Microcephaly with Mental Retardation and Digital Anomalies	Associate	16905681
Migraine Disorders	Associate	23373759
Mitochondrial Diseases	Associate	21270637, 23373759, 27555610, 27646161, 34070950, 37820724
Mood Disorders	Associate	25956630, 28895261, 30396281
Motor Disorders	Associate	18057320, 34117786
Motor Skills Disorders	Associate	33911031
Movement Disorders	Associate	23009394
Mucopolysaccharidosis II	Associate	23634718, 35916809
Multiple Myeloma	Associate	36177774
Multiple Sclerosis	Associate	18695063, 31484947
Muscular Atrophy Spinal	Associate	36375840
Musculoskeletal Pain	Associate	21926154
Mutism	Associate	31899609
Myalgia	Associate	19367323, 28857524
Myasthenia Gravis	Associate	34789272
Myasthenia Gravis Autoimmune Experimental	Associate	34789272
Myocardial Infarction	Associate	36061306
Neoplasm Metastasis	Associate	29144507, 37379126
Neoplasm Metastasis	Stimulate	36347844
Neoplasms	Associate	22984553, 29144507, 32525608, 35290126, 35942760, 36347844, 39389065, 40149453
Nerve Degeneration	Associate	32576818
Nervous System Diseases	Associate	19996900
Neurobehavioral Manifestations	Associate	27335370, 33373777
Neurocognitive Disorders	Associate	33387817
Neurodegenerative Diseases	Associate	19514725, 21237174, 21270637, 21484870, 22584570, 23739124, 25399540, 27001315, 27089882, 27555610, 27840045, 28972453, 32576818, 33433033, 33760253, 35026985, 35701103 View all (2 more)
Neurologic Manifestations	Associate	14993603, 18273822, 21443343, 23146966, 26802682, 27001315, 29449635, 30567555, 31348790, 34117786, 35322102
Neuromuscular Diseases	Associate	34153466
Neurotoxicity Syndromes	Associate	21775729, 26802682, 28888471, 30385191, 37252957
Ocular Albinism type 1	Associate	33387817
Osteoporosis	Associate	33387817, 36967763
Otitis Media	Associate	20558944
Ovarian Diseases	Associate	17428316, 18384775, 18384784, 19410248, 19642041, 22581803, 22984553, 23212832, 24788194, 24938362, 25579682, 25906823, 27189053, 27695106, 27816231 View all (6 more)
Ovarian Dysgenesis 2	Associate	17428316, 22493044, 32089525
Ovarian Neoplasms	Associate	18535897, 23703681, 35038595, 35248053
Parkinson Disease	Associate	18565783, 20702130, 21270637, 21567456, 30153395
Parkinson Disease Secondary	Associate	18273822, 18565783, 19796183, 20702130, 21270637, 21445959, 21567456, 30153395
Paroxysmal ventricular fibrillation	Associate	21179569, 30136016, 32096109
Peripheral Nervous System Diseases	Associate	19367323, 19842197
Personality Disorders	Associate	40243429
Phobia Social	Associate	21291994, 25809302, 28972453, 31899609
Polycystic Ovary Syndrome	Associate	21179569, 29981579
Pregnancy in Diabetics	Associate	22493044
Primary Ovarian Insufficiency	Associate	15862312, 16251893, 17428316, 18165273, 18165276, 18357616, 18384775, 18973899, 19026394, 19367323, 19410248, 19842197, 19996900, 20059484, 20228389 View all (48 more)
Prostatic Neoplasms	Associate	37056926
Reproductive Tract Infections	Associate	27980694
RNA Virus Infections	Associate	24591415, 34193467
Schaaf Yang syndrome	Associate	8411072
Schizophrenia	Associate	23778581, 24463507, 24463508, 24776740, 24876161, 25956630, 26573769, 28422133, 28719003, 33077856, 38103876
Schizophrenia Spectrum and Other Psychotic Disorders	Associate	32576818
Scleroderma Limited	Associate	31887710
Seizures	Associate	19367323, 19842197, 22001913, 35852003
Simpson Golabi Behmel syndrome	Associate	8558551
Sleep Apnea Syndromes	Associate	23373759
Sleep Wake Disorders	Associate	26212380
Social Communication Disorder	Associate	23146966
Speech Disorders	Associate	32678152
Striatal Degeneration Autosomal Dominant	Associate	17437282
Thyroid Diseases	Associate	19367323, 19842197
Thyroiditis Autoimmune	Associate	25399540
Travel Related Illness	Associate	19026394
Tremor	Associate	15000674, 15065016, 18273822, 18535897, 18565783, 19026394, 20558944, 21567456, 21926154, 23373759, 29299012
Tuberous Sclerosis	Inhibit	29449635
Turner Syndrome	Associate	24419320, 34073864
Vocal Cord Dysfunction	Associate	37347418

FMR1 (fragile X messenger ribonucleoprotein 1)