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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	9513
Gene name	FMR1 autosomal homolog 2
Gene symbol	FXR2
Synonyms (NCBI Gene)	FMR1L2FXR2P
Chromosome	17
Chromosome location	17p13.1
Summary	The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associ

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Show/Hide all (137)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005207	hsa-miR-30a-5p	pSILAC	18668040
MIRT005207	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT052187	hsa-let-7b-5p	CLASH	23622248
MIRT051023	hsa-miR-17-5p	CLASH	23622248
MIRT048260	hsa-miR-196a-5p	CLASH	23622248
MIRT042893	hsa-miR-324-3p	CLASH	23622248
MIRT461805	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT461804	hsa-miR-3919	PAR-CLIP	23592263
MIRT461803	hsa-miR-4756-3p	PAR-CLIP	23592263
MIRT461801	hsa-miR-5186	PAR-CLIP	23592263
MIRT461802	hsa-miR-4434	PAR-CLIP	23592263
MIRT461800	hsa-miR-4516	PAR-CLIP	23592263
MIRT461799	hsa-miR-5703	PAR-CLIP	23592263
MIRT461798	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT461797	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT461796	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT461795	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT461794	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT461793	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT461792	hsa-miR-609	PAR-CLIP	23592263
MIRT461791	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT461790	hsa-miR-124-5p	PAR-CLIP	23592263
MIRT461789	hsa-miR-4531	PAR-CLIP	23592263
MIRT461788	hsa-miR-1227-5p	PAR-CLIP	23592263
MIRT461787	hsa-miR-6751-5p	PAR-CLIP	23592263
MIRT461786	hsa-miR-6803-5p	PAR-CLIP	23592263
MIRT461785	hsa-miR-4260	PAR-CLIP	23592263
MIRT440606	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT440604	hsa-miR-376c-3p	HITS-CLIP	24374217
MIRT439129	hsa-miR-10b-5p	3'LIFE	25074381
MIRT440606	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT440604	hsa-miR-376c-3p	HITS-CLIP	24374217
MIRT439129	hsa-miR-10b-5p	3'LIFE	25074381
MIRT461805	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT461804	hsa-miR-3919	PAR-CLIP	23592263
MIRT461803	hsa-miR-4756-3p	PAR-CLIP	23592263
MIRT461801	hsa-miR-5186	PAR-CLIP	23592263
MIRT461802	hsa-miR-4434	PAR-CLIP	23592263
MIRT461800	hsa-miR-4516	PAR-CLIP	23592263
MIRT461799	hsa-miR-5703	PAR-CLIP	23592263
MIRT461798	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT461797	hsa-miR-6835-5p	PAR-CLIP	23592263
MIRT461796	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT461795	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT461794	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT461793	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT461792	hsa-miR-609	PAR-CLIP	23592263
MIRT461791	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT461790	hsa-miR-124-5p	PAR-CLIP	23592263
MIRT461789	hsa-miR-4531	PAR-CLIP	23592263
MIRT461788	hsa-miR-1227-5p	PAR-CLIP	23592263
MIRT461787	hsa-miR-6751-5p	PAR-CLIP	23592263
MIRT461786	hsa-miR-6803-5p	PAR-CLIP	23592263
MIRT461785	hsa-miR-4260	PAR-CLIP	23592263
MIRT1007409	hsa-miR-1183	CLIP-seq
MIRT1007410	hsa-miR-1293	CLIP-seq
MIRT1007411	hsa-miR-133a	CLIP-seq
MIRT1007412	hsa-miR-133b	CLIP-seq
MIRT1007413	hsa-miR-151-5p	CLIP-seq
MIRT1007414	hsa-miR-151b	CLIP-seq
MIRT1007415	hsa-miR-200b	CLIP-seq
MIRT1007416	hsa-miR-200c	CLIP-seq
MIRT1007417	hsa-miR-3131	CLIP-seq
MIRT1007418	hsa-miR-3147	CLIP-seq
MIRT1007419	hsa-miR-3663-3p	CLIP-seq
MIRT1007420	hsa-miR-4281	CLIP-seq
MIRT1007421	hsa-miR-429	CLIP-seq
MIRT1007422	hsa-miR-4425	CLIP-seq
MIRT1007423	hsa-miR-4483	CLIP-seq
MIRT1007424	hsa-miR-4694-5p	CLIP-seq
MIRT1007425	hsa-miR-4762-5p	CLIP-seq
MIRT1007426	hsa-miR-611	CLIP-seq
MIRT1007427	hsa-miR-624	CLIP-seq
MIRT1998483	hsa-miR-10a	CLIP-seq
MIRT1998484	hsa-miR-10b	CLIP-seq
MIRT1998485	hsa-miR-185	CLIP-seq
MIRT1998486	hsa-miR-2110	CLIP-seq
MIRT1998487	hsa-miR-223	CLIP-seq
MIRT1998488	hsa-miR-2278	CLIP-seq
MIRT1998489	hsa-miR-2467-5p	CLIP-seq
MIRT1998490	hsa-miR-2861	CLIP-seq
MIRT1998491	hsa-miR-3127-3p	CLIP-seq
MIRT1007418	hsa-miR-3147	CLIP-seq
MIRT1998492	hsa-miR-4259	CLIP-seq
MIRT1998493	hsa-miR-4271	CLIP-seq
MIRT1998494	hsa-miR-4306	CLIP-seq
MIRT1998495	hsa-miR-4428	CLIP-seq
MIRT1998496	hsa-miR-4502	CLIP-seq
MIRT1998497	hsa-miR-4533	CLIP-seq
MIRT1998498	hsa-miR-4644	CLIP-seq
MIRT1998499	hsa-miR-4660	CLIP-seq
MIRT1998500	hsa-miR-4725-3p	CLIP-seq
MIRT1998501	hsa-miR-4738-5p	CLIP-seq
MIRT1998502	hsa-miR-4747-5p	CLIP-seq
MIRT1998503	hsa-miR-577	CLIP-seq
MIRT1998504	hsa-miR-622	CLIP-seq
MIRT1998505	hsa-miR-646	CLIP-seq
MIRT1998506	hsa-miR-766	CLIP-seq
MIRT2232214	hsa-miR-1909	CLIP-seq
MIRT1998488	hsa-miR-2278	CLIP-seq
MIRT2232215	hsa-miR-2392	CLIP-seq
MIRT1007418	hsa-miR-3147	CLIP-seq
MIRT2232216	hsa-miR-3689a-3p	CLIP-seq
MIRT2232217	hsa-miR-3689c	CLIP-seq
MIRT1998499	hsa-miR-4660	CLIP-seq
MIRT2232218	hsa-miR-4661-5p	CLIP-seq
MIRT2232219	hsa-miR-4690-5p	CLIP-seq
MIRT2232220	hsa-miR-4700-3p	CLIP-seq
MIRT2232221	hsa-miR-4728-5p	CLIP-seq
MIRT1998501	hsa-miR-4738-5p	CLIP-seq
MIRT2232222	hsa-miR-4779	CLIP-seq
MIRT1998503	hsa-miR-577	CLIP-seq
MIRT1998505	hsa-miR-646	CLIP-seq
MIRT2232223	hsa-miR-765	CLIP-seq
MIRT1998506	hsa-miR-766	CLIP-seq
MIRT2535979	hsa-miR-1321	CLIP-seq
MIRT2535980	hsa-miR-3154	CLIP-seq
MIRT2535981	hsa-miR-342-5p	CLIP-seq
MIRT2535982	hsa-miR-3665	CLIP-seq
MIRT2535983	hsa-miR-3689d	CLIP-seq
MIRT2535984	hsa-miR-4443	CLIP-seq
MIRT2535985	hsa-miR-4664-5p	CLIP-seq
MIRT2232221	hsa-miR-4728-5p	CLIP-seq
MIRT2535986	hsa-miR-4739	CLIP-seq
MIRT2535987	hsa-miR-4756-5p	CLIP-seq
MIRT2535988	hsa-miR-657	CLIP-seq
MIRT2535979	hsa-miR-1321	CLIP-seq
MIRT2535980	hsa-miR-3154	CLIP-seq
MIRT2535981	hsa-miR-342-5p	CLIP-seq
MIRT2535982	hsa-miR-3665	CLIP-seq
MIRT2535983	hsa-miR-3689d	CLIP-seq
MIRT2535984	hsa-miR-4443	CLIP-seq
MIRT2535985	hsa-miR-4664-5p	CLIP-seq
MIRT2232221	hsa-miR-4728-5p	CLIP-seq
MIRT2535986	hsa-miR-4739	CLIP-seq
MIRT2535987	hsa-miR-4756-5p	CLIP-seq
MIRT2535988	hsa-miR-657	CLIP-seq

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Transcription factor	Regulation	Reference
NFYA	Activation	16886907
NFYB	Activation	16886907
NFYC	Activation	16886907
NRF1	Activation	16886907
SP1	Activation	16886907

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	TAS	7489725
GO:0003729	Function	MRNA binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	IBA
GO:0005515	Function	Protein binding	IPI	7489725, 11157796, 16189514, 16571602, 19060904, 20211142, 21516116, 21653829, 24722188, 24981860, 25416956, 26949739, 28514442, 29892012, 31515488, 32296183, 32707033, 32814053, 32838362, 33961781, 35271311, 36217029, 36217030, 39251607
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IDA	7489725
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9259278
GO:0005829	Component	Cytosol	IDA
GO:0006417	Process	Regulation of translation	IEA
GO:0010494	Component	Cytoplasmic stress granule	IBA
GO:0010494	Component	Cytoplasmic stress granule	IDA	12417522
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0021542	Process	Dentate gyrus development	ISS
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 21446998, 25416956, 39251607
GO:0042803	Function	Protein homodimerization activity	IDA	7489725
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043488	Process	Regulation of mRNA stability	IBA
GO:0045182	Function	Translation regulator activity	IBA
GO:0045202	Component	Synapse	IEA
GO:0045727	Process	Positive regulation of translation	IBA
GO:0046982	Function	Protein heterodimerization activity	IDA	7489725
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0048170	Process	Positive regulation of long-term neuronal synaptic plasticity	IBA
GO:0048513	Process	Animal organ development	IBA
GO:0051028	Process	MRNA transport	IBA
GO:0061157	Process	MRNA destabilization	ISS
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0099577	Process	Regulation of translation at presynapse, modulating synaptic transmission	IBA

MIM	HGNC	e!Ensembl
605339	4024	ENSG00000129245

P51116

Protein name

RNA-binding protein FXR2 (FXR2P) (FMR1 autosomal homolog 2)

Protein function

mRNA-binding protein that acts as a regulator of mRNAs translation and/or stability, and which is required for adult hippocampal neurogenesis (By similarity). Specifically binds to AU-rich elements (AREs) in the 3'-UTR of target mRNAs (By simila

PDB

3H8Z

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18336	Tudor_FRX1	14 → 62	Fragile X mental retardation Tudor domain	Domain
PF05641	Agenet	72 → 127	Agenet domain	Domain
PF17904	KH_9	133 → 217	FMRP KH0 domain	Domain
PF00013	KH_1	230 → 290	KH domain	Domain
PF00013	KH_1	293 → 363	KH domain	Domain
PF12235	FXMRP1_C_core	364 → 491	Fragile X-related 1 protein core C terminal	Family
PF16096	FXR_C1	502 → 577	Fragile X-related 1 protein C-terminal region 2	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues examined including heart, brain, kidney and testis (PubMed:9259278). In brain, present at high level in neurons and especially in the Purkinje cells at the interface between the granular layer and the molecular

Sequence

MGGLASGGDVEPGLPVEVRGSNGAFYKGFVKDVHEDSVTIFFENNWQSERQIPFGDVRLP
PPADYNKEITEGDEVEVYSRANEQEPCGWWLARVRMMKGDFYVIEYAACDATYNEIVTLE
RLRPVNPNPLATKGSFFKVTMAVPEDLREACSNENVHKEFKKALGANCIFLNITNSELFI
LSTTEAPVKRASLLGDMHFRSLRTKLLLMSRNEEATKHLETSKQLAAAFQEEFTVREDLM
GLAIGTHGANIQQARKVPGVTAIELGEETCTFRIYGETPEACRQARSYLEFSEDSVQVPR
NLVGKVIGKNGKVIQEIVDKSGVVRVRVEGDNDKKNPREEGMVPFIFVGTRENISNAQAL
LEYHLSYLQEVEQLRLERLQIDEQLRQIGLGFRPPGSGRGSGGSDKAGYSTDESSSSSLH
ATRTYGGSYGGRGRGRRTGGPAYGPSSDVSTASETESEKREEPNRAGPGDRDPPTRGEES
RRRPTGGRGRGPPPAPRPTSRYNSSSISSVLKDPDSNPYSLLDTSEPEPPVDSEPGEPPP
ASARRRRSRRRRTDEDRTVMDGGLESDGPNMTENGLEDESRPQRRNRSRRRRNRGNRTDG
SISGDRQPVTVADYISRAESQSRQRPPLERTKPSEDSLSGQKGDSVSKLPKGPSENGELS
APLELGSMVNGVS

Sequence length

673

Interactions

View interactions

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

Show/Hide Unknown Diseases (2)

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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	16778363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	33871026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	33871026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40149453	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	16778363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	28204491, 30654445, 7489725, 9195154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16778363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16778363		★★★★★ ★☆☆☆☆ Found in Text Mining only

FXR2 (FMR1 autosomal homolog 2)