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 Pathways Associated diseases
Entrez ID	11338
Gene name	U2 small nuclear RNA auxiliary factor 2
Gene symbol	U2AF2
Synonyms (NCBI Gene)	DEVDFBU2AF65
Chromosome	19
Chromosome location	19q13.42
Summary	U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region w

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miRTarBase ID	miRNA	Experiments	Reference
MIRT049199	hsa-miR-92a-3p	CLASH	23622248
MIRT049199	hsa-miR-92a-3p	CLASH	23622248
MIRT049199	hsa-miR-92a-3p	CLASH	23622248
MIRT048235	hsa-miR-196a-5p	CLASH	23622248
MIRT047003	hsa-miR-210-3p	CLASH	23622248
MIRT047003	hsa-miR-210-3p	CLASH	23622248
MIRT042954	hsa-miR-324-3p	CLASH	23622248
MIRT040739	hsa-miR-92b-3p	CLASH	23622248
MIRT040214	hsa-miR-615-3p	CLASH	23622248
MIRT039351	hsa-miR-542-5p	CLASH	23622248
MIRT039299	hsa-miR-671-5p	CLASH	23622248
MIRT037893	hsa-miR-455-3p	CLASH	23622248
MIRT294225	hsa-miR-3163	PAR-CLIP	20371350
MIRT563009	hsa-miR-4529-5p	PAR-CLIP	20371350
MIRT294224	hsa-miR-548s	PAR-CLIP	20371350
MIRT294228	hsa-miR-4701-5p	PAR-CLIP	20371350
MIRT294222	hsa-miR-588	PAR-CLIP	20371350
MIRT294227	hsa-miR-4435	PAR-CLIP	20371350
MIRT294226	hsa-miR-3187-3p	PAR-CLIP	20371350
MIRT294225	hsa-miR-3163	PAR-CLIP	20371350
MIRT563009	hsa-miR-4529-5p	PAR-CLIP	20371350
MIRT294224	hsa-miR-548s	PAR-CLIP	20371350
MIRT294228	hsa-miR-4701-5p	PAR-CLIP	20371350
MIRT294222	hsa-miR-588	PAR-CLIP	20371350
MIRT294227	hsa-miR-4435	PAR-CLIP	20371350
MIRT294226	hsa-miR-3187-3p	PAR-CLIP	20371350
MIRT294225	hsa-miR-3163	PAR-CLIP	20371350
MIRT563010	hsa-miR-8063	PAR-CLIP	20371350
MIRT406813	hsa-miR-4698	PAR-CLIP	20371350
MIRT563009	hsa-miR-4529-5p	PAR-CLIP	20371350
MIRT294224	hsa-miR-548s	PAR-CLIP	20371350
MIRT294228	hsa-miR-4701-5p	PAR-CLIP	20371350
MIRT294222	hsa-miR-588	PAR-CLIP	20371350
MIRT294227	hsa-miR-4435	PAR-CLIP	20371350
MIRT294226	hsa-miR-3187-3p	PAR-CLIP	20371350
MIRT452754	hsa-miR-6888-5p	PAR-CLIP	23592263
MIRT348826	hsa-miR-4688	PAR-CLIP	23592263
MIRT348830	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT348824	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT348822	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT452753	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT452752	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT452751	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT452750	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT452749	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT348823	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT348827	hsa-miR-3064-3p	PAR-CLIP	23592263
MIRT452751	hsa-miR-1207-5p	PAR-CLIP	26701625
MIRT452751	hsa-miR-1207-5p	PAR-CLIP	26701625
MIRT452751	hsa-miR-1207-5p	PAR-CLIP	26701625
MIRT452751	hsa-miR-1207-5p	PAR-CLIP	26701625
MIRT452751	hsa-miR-1207-5p	PAR-CLIP	26701625
MIRT452751	hsa-miR-1207-5p	PAR-CLIP	26701625
MIRT452753	hsa-miR-1909-3p	PAR-CLIP	26701625
MIRT452753	hsa-miR-1909-3p	PAR-CLIP	26701625
MIRT452753	hsa-miR-1909-3p	PAR-CLIP	26701625
MIRT452753	hsa-miR-1909-3p	PAR-CLIP	26701625
MIRT452753	hsa-miR-1909-3p	PAR-CLIP	26701625
MIRT452753	hsa-miR-1909-3p	PAR-CLIP	26701625
MIRT348827	hsa-miR-3064-3p	PAR-CLIP	26701625
MIRT348827	hsa-miR-3064-3p	PAR-CLIP	26701625
MIRT348827	hsa-miR-3064-3p	PAR-CLIP	26701625
MIRT348827	hsa-miR-3064-3p	PAR-CLIP	26701625
MIRT348827	hsa-miR-3064-3p	PAR-CLIP	26701625
MIRT348827	hsa-miR-3064-3p	PAR-CLIP	26701625
MIRT348824	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT348824	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT348824	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT348824	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT348824	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT348824	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT348824	hsa-miR-3184-5p	PAR-CLIP	26701625
MIRT348822	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT348822	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT348822	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT348822	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT348822	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT348822	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT348822	hsa-miR-423-5p	PAR-CLIP	26701625
MIRT348826	hsa-miR-4688	PAR-CLIP	26701625
MIRT348826	hsa-miR-4688	PAR-CLIP	26701625
MIRT348826	hsa-miR-4688	PAR-CLIP	26701625
MIRT348826	hsa-miR-4688	PAR-CLIP	26701625
MIRT348826	hsa-miR-4688	PAR-CLIP	26701625
MIRT348826	hsa-miR-4688	PAR-CLIP	26701625
MIRT348826	hsa-miR-4688	PAR-CLIP	26701625
MIRT452750	hsa-miR-4763-3p	PAR-CLIP	26701625
MIRT452750	hsa-miR-4763-3p	PAR-CLIP	26701625
MIRT452750	hsa-miR-4763-3p	PAR-CLIP	26701625
MIRT452750	hsa-miR-4763-3p	PAR-CLIP	26701625
MIRT452750	hsa-miR-4763-3p	PAR-CLIP	26701625
MIRT452750	hsa-miR-4763-3p	PAR-CLIP	26701625
MIRT348823	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT348823	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT348823	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT348823	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT348823	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT348823	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT348823	hsa-miR-486-3p	PAR-CLIP	26701625
MIRT452749	hsa-miR-6721-5p	PAR-CLIP	26701625
MIRT452749	hsa-miR-6721-5p	PAR-CLIP	26701625
MIRT452749	hsa-miR-6721-5p	PAR-CLIP	26701625
MIRT452749	hsa-miR-6721-5p	PAR-CLIP	26701625
MIRT452749	hsa-miR-6721-5p	PAR-CLIP	26701625
MIRT452749	hsa-miR-6721-5p	PAR-CLIP	26701625
MIRT452749	hsa-miR-6721-5p	PAR-CLIP	26701625
MIRT452752	hsa-miR-6722-3p	PAR-CLIP	26701625
MIRT452752	hsa-miR-6722-3p	PAR-CLIP	26701625
MIRT452752	hsa-miR-6722-3p	PAR-CLIP	26701625
MIRT452752	hsa-miR-6722-3p	PAR-CLIP	26701625
MIRT452752	hsa-miR-6722-3p	PAR-CLIP	26701625
MIRT452752	hsa-miR-6722-3p	PAR-CLIP	26701625
MIRT348830	hsa-miR-6743-5p	PAR-CLIP	26701625
MIRT348830	hsa-miR-6743-5p	PAR-CLIP	26701625
MIRT348830	hsa-miR-6743-5p	PAR-CLIP	26701625
MIRT348830	hsa-miR-6743-5p	PAR-CLIP	26701625
MIRT348830	hsa-miR-6743-5p	PAR-CLIP	26701625
MIRT348830	hsa-miR-6743-5p	PAR-CLIP	26701625
MIRT348830	hsa-miR-6743-5p	PAR-CLIP	26701625
MIRT452754	hsa-miR-6888-5p	PAR-CLIP	26701625
MIRT452754	hsa-miR-6888-5p	PAR-CLIP	26701625
MIRT452754	hsa-miR-6888-5p	PAR-CLIP	26701625
MIRT452754	hsa-miR-6888-5p	PAR-CLIP	26701625
MIRT452754	hsa-miR-6888-5p	PAR-CLIP	26701625
MIRT452754	hsa-miR-6888-5p	PAR-CLIP	26701625
MIRT294225	hsa-miR-3163	PAR-CLIP	20371350
MIRT563009	hsa-miR-4529-5p	PAR-CLIP	20371350
MIRT294224	hsa-miR-548s	PAR-CLIP	20371350
MIRT294228	hsa-miR-4701-5p	PAR-CLIP	20371350
MIRT294222	hsa-miR-588	PAR-CLIP	20371350
MIRT294227	hsa-miR-4435	PAR-CLIP	20371350
MIRT294226	hsa-miR-3187-3p	PAR-CLIP	20371350
MIRT294225	hsa-miR-3163	PAR-CLIP	20371350
MIRT563009	hsa-miR-4529-5p	PAR-CLIP	20371350
MIRT294224	hsa-miR-548s	PAR-CLIP	20371350
MIRT294228	hsa-miR-4701-5p	PAR-CLIP	20371350
MIRT294222	hsa-miR-588	PAR-CLIP	20371350
MIRT294227	hsa-miR-4435	PAR-CLIP	20371350
MIRT294226	hsa-miR-3187-3p	PAR-CLIP	20371350
MIRT294225	hsa-miR-3163	PAR-CLIP	20371350
MIRT563010	hsa-miR-8063	PAR-CLIP	20371350
MIRT406813	hsa-miR-4698	PAR-CLIP	20371350
MIRT563009	hsa-miR-4529-5p	PAR-CLIP	20371350
MIRT294224	hsa-miR-548s	PAR-CLIP	20371350
MIRT294228	hsa-miR-4701-5p	PAR-CLIP	20371350
MIRT294222	hsa-miR-588	PAR-CLIP	20371350
MIRT294227	hsa-miR-4435	PAR-CLIP	20371350
MIRT294226	hsa-miR-3187-3p	PAR-CLIP	20371350
MIRT452754	hsa-miR-6888-5p	PAR-CLIP	23592263
MIRT348826	hsa-miR-4688	PAR-CLIP	23592263
MIRT348830	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT348824	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT348822	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT452753	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT452752	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT452751	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT452750	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT452749	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT348823	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT348827	hsa-miR-3064-3p	PAR-CLIP	23592263
MIRT1465963	hsa-miR-1252	CLIP-seq
MIRT1465964	hsa-miR-1909	CLIP-seq
MIRT1465965	hsa-miR-3175	CLIP-seq
MIRT1465966	hsa-miR-3184	CLIP-seq
MIRT1465967	hsa-miR-4459	CLIP-seq
MIRT1465968	hsa-miR-4723-5p	CLIP-seq
MIRT1465969	hsa-miR-4779	CLIP-seq
MIRT1465970	hsa-miR-4787-5p	CLIP-seq
MIRT1465971	hsa-miR-665	CLIP-seq
MIRT1465963	hsa-miR-1252	CLIP-seq
MIRT1465972	hsa-miR-1253	CLIP-seq
MIRT1465964	hsa-miR-1909	CLIP-seq
MIRT1465973	hsa-miR-2110	CLIP-seq
MIRT1465974	hsa-miR-2355-5p	CLIP-seq
MIRT1465975	hsa-miR-3157-3p	CLIP-seq
MIRT1465965	hsa-miR-3175	CLIP-seq
MIRT1465976	hsa-miR-3179	CLIP-seq
MIRT1465966	hsa-miR-3184	CLIP-seq
MIRT1465977	hsa-miR-3202	CLIP-seq
MIRT1465978	hsa-miR-3685	CLIP-seq
MIRT1465979	hsa-miR-3936	CLIP-seq
MIRT1465980	hsa-miR-4271	CLIP-seq
MIRT1465981	hsa-miR-4326	CLIP-seq
MIRT1465982	hsa-miR-4434	CLIP-seq
MIRT1465983	hsa-miR-4490	CLIP-seq
MIRT1465984	hsa-miR-4516	CLIP-seq
MIRT1465985	hsa-miR-4675	CLIP-seq
MIRT1465986	hsa-miR-4725-3p	CLIP-seq
MIRT1465987	hsa-miR-4741	CLIP-seq
MIRT1465988	hsa-miR-4747-5p	CLIP-seq
MIRT1465989	hsa-miR-491-5p	CLIP-seq
MIRT1465990	hsa-miR-933	CLIP-seq
MIRT1465964	hsa-miR-1909	CLIP-seq
MIRT1465966	hsa-miR-3184	CLIP-seq
MIRT2140136	hsa-miR-3616-3p	CLIP-seq
MIRT2140137	hsa-miR-4436b-3p	CLIP-seq
MIRT2140138	hsa-miR-4743	CLIP-seq
MIRT1465963	hsa-miR-1252	CLIP-seq
MIRT2360800	hsa-miR-145	CLIP-seq
MIRT1465964	hsa-miR-1909	CLIP-seq
MIRT2360801	hsa-miR-1913	CLIP-seq
MIRT2360802	hsa-miR-302f	CLIP-seq
MIRT1465965	hsa-miR-3175	CLIP-seq
MIRT1465966	hsa-miR-3184	CLIP-seq
MIRT2140136	hsa-miR-3616-3p	CLIP-seq
MIRT1465979	hsa-miR-3936	CLIP-seq
MIRT2360803	hsa-miR-4257	CLIP-seq
MIRT1465982	hsa-miR-4434	CLIP-seq
MIRT2140137	hsa-miR-4436b-3p	CLIP-seq
MIRT2360804	hsa-miR-4440	CLIP-seq
MIRT1465967	hsa-miR-4459	CLIP-seq
MIRT2360805	hsa-miR-4475	CLIP-seq
MIRT1465983	hsa-miR-4490	CLIP-seq
MIRT1465984	hsa-miR-4516	CLIP-seq
MIRT2360806	hsa-miR-4517	CLIP-seq
MIRT2360807	hsa-miR-4641	CLIP-seq
MIRT2360808	hsa-miR-4711-3p	CLIP-seq
MIRT1465968	hsa-miR-4723-5p	CLIP-seq
MIRT2140138	hsa-miR-4743	CLIP-seq
MIRT2360809	hsa-miR-4766-3p	CLIP-seq
MIRT2360810	hsa-miR-4769-3p	CLIP-seq
MIRT1465969	hsa-miR-4779	CLIP-seq
MIRT1465970	hsa-miR-4787-5p	CLIP-seq
MIRT2360811	hsa-miR-483-3p	CLIP-seq
MIRT1465989	hsa-miR-491-5p	CLIP-seq
MIRT2360812	hsa-miR-548p	CLIP-seq
MIRT1465971	hsa-miR-665	CLIP-seq
MIRT2360813	hsa-miR-668	CLIP-seq
MIRT1465966	hsa-miR-3184	CLIP-seq
MIRT1465975	hsa-miR-3157-3p	CLIP-seq
MIRT2654413	hsa-miR-1276	CLIP-seq
MIRT1465964	hsa-miR-1909	CLIP-seq
MIRT2654414	hsa-miR-3125	CLIP-seq
MIRT2654415	hsa-miR-3148	CLIP-seq
MIRT1465965	hsa-miR-3175	CLIP-seq
MIRT1465966	hsa-miR-3184	CLIP-seq
MIRT2654416	hsa-miR-3916	CLIP-seq
MIRT2654417	hsa-miR-4311	CLIP-seq
MIRT1465968	hsa-miR-4723-5p	CLIP-seq
MIRT2654418	hsa-miR-4744	CLIP-seq
MIRT1465970	hsa-miR-4787-5p	CLIP-seq
MIRT2654419	hsa-miR-548c-3p	CLIP-seq
MIRT2654420	hsa-miR-583	CLIP-seq
MIRT2654413	hsa-miR-1276	CLIP-seq
MIRT1465964	hsa-miR-1909	CLIP-seq
MIRT2654414	hsa-miR-3125	CLIP-seq
MIRT2654415	hsa-miR-3148	CLIP-seq
MIRT1465965	hsa-miR-3175	CLIP-seq
MIRT1465966	hsa-miR-3184	CLIP-seq
MIRT2654416	hsa-miR-3916	CLIP-seq
MIRT2654417	hsa-miR-4311	CLIP-seq
MIRT1465968	hsa-miR-4723-5p	CLIP-seq
MIRT2654418	hsa-miR-4744	CLIP-seq
MIRT1465970	hsa-miR-4787-5p	CLIP-seq
MIRT2654419	hsa-miR-548c-3p	CLIP-seq
MIRT2654420	hsa-miR-583	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
SF1	Unknown	10606272;16376933
WT1	Unknown	9784496

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000243	Component	Commitment complex	IBA
GO:0000245	Process	Spliceosomal complex assembly	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	9731529
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	1824937
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	17024186, 32343311
GO:0000974	Component	Prp19 complex	IDA	21536736
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	9237760, 9447963, 10449420, 11551507, 12718882, 16189514, 16713569, 17024186, 17589525, 18559666, 18951082, 20467437, 20696395, 21460037, 21516116, 21536736, 21988832, 22365833, 22569250, 23273425, 23602568, 24389012, 25416956, 25959826, 26420826, 28514442, 30698747, 32296183, 32707
GO:0005634	Component	Nucleus	IDA	1824937
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	17024186
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IDA	9731529
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	11551507, 23273425
GO:0006397	Process	MRNA processing	IEA
GO:0006397	Process	MRNA processing	TAS	1538748
GO:0008187	Function	Poly-pyrimidine tract binding	IBA
GO:0008380	Process	RNA splicing	IEA
GO:0016607	Component	Nuclear speck	IBA
GO:0016607	Component	Nuclear speck	IDA	1824937, 21984414
GO:0019899	Function	Enzyme binding	IPI	19574390
GO:0030628	Function	Pre-mRNA 3'-splice site binding	IBA
GO:0030628	Function	Pre-mRNA 3'-splice site binding	IDA	2531895
GO:0031397	Process	Negative regulation of protein ubiquitination	IDA	24389012
GO:0031397	Process	Negative regulation of protein ubiquitination	IMP	24389012
GO:0033120	Process	Positive regulation of RNA splicing	IDA	21536736
GO:0048025	Process	Negative regulation of mRNA splicing, via spliceosome	IDA	15009664
GO:0070742	Function	C2H2 zinc finger domain binding	IEA
GO:0071004	Component	U2-type prespliceosome	IBA
GO:0071004	Component	U2-type prespliceosome	IDA	2531895
GO:0089701	Component	U2AF complex	IBA
GO:0089701	Component	U2AF complex	IDA	1824937, 2531895
GO:0089701	Component	U2AF complex	IPI	11551507, 23273425
GO:0140678	Function	Molecular function inhibitor activity	EXP	32188783

MIM	HGNC	e!Ensembl
191318	23156	ENSG00000063244

P26368

Protein name

Splicing factor U2AF 65 kDa subunit (U2 auxiliary factor 65 kDa subunit) (hU2AF(65)) (hU2AF65) (U2 snRNP auxiliary factor large subunit)

Protein function

Plays a role in pre-mRNA splicing and 3'-end processing (PubMed:17024186). By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to

PDB

1JMT , 1O0P , 1OPI , 1U2F , 2G4B , 2HZC , 2M0G , 2U2F , 2YH0 , 2YH1 , 3VAF , 3VAG , 3VAH , 3VAI , 3VAJ , 3VAK , 3VAL , 3VAM , 4FXW , 4TU7 , 4TU8 , 4TU9 , 5EV1 , 5EV2 , 5EV3 , 5EV4 , 5W0G , 5W0H , 6TR0 , 6XLV , 6XLW , 6XLX , 7S3A , 7S3B , 7S3C , 7SN6 , 8P25 , 9C7A , 9C7B , 9DWU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00076	RRM_1	151 → 225	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF00076	RRM_1	261 → 331	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF00076	RRM_1	399 → 460	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

Sequence

MSDFDEFERQLNENKQERDKENRHRKRSHSRSRSRDRKRRSRSRDRRNRDQRSASRDRRR
RSKPLTRGAKEEHGGLIRSPRHEKKKKVRKYWDVPPPGFEHITPMQYKAMQAAGQIPATA
LLPTMTPDGLAVTPTPVPVVGSQMTRQARRLYVGNIPFGITEEAMMDFFNAQMRLGGLTQ
APGNPVLAVQINQDKNFAFLEFRSVDETTQAMAFDGIIFQGQSLKIRRPHDYQPLPGMSE
NPSVYVPGVVSTVVPDSAHKLFIGGLPNYLNDDQVKELLTSFGPLKAFNLVKDSATGLSK
GYAFCEYVDINVTDQAIAGLNGMQLGDKKLLVQRASVGAKNATLVSPPSTINQTPVTLQV
PGLMSSQVQMGGHPTEVLCLMNMVLPEELLDDEEYEEIVEDVRDECSKYGLVKSIEIPRP
VDGVEVPGCGKIFVEFTSVFDCQKAMQGLTGRKFANRVVVTKYCDPDSYHRRDFW

Sequence length

475

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		Transport of Mature mRNA derived from an Intron-Containing Transcript mRNA Splicing - Major Pathway mRNA 3'-end processing RNA Polymerase II Transcription Termination

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental delay, dysmorphic facies, and brain anomalies	Likely pathogenic; Pathogenic	rs2123678139, rs1600073584, rs2514215278, rs2514219045	RCV004785440 RCV003333775 RCV006259440 RCV003333894	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy	Likely pathogenic	rs2514215337	RCV003318470	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2123691990	RCV002249197	★★★★★ ★★★★☆ 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.
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
beta Thalassemia	Beta thalassemia	Pubtator	12189174	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	40264052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	26349752	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34514002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	26349752	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26349752	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22682314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	22682314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22682314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	22682314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22682314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37962958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	27041584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36635261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease IIIB	Glycogen storage disease	Pubtator	34709752	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	24150945	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	34570179	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	35502531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	33020180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23645565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27041584, 28850223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29176719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25169209, 34709752	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27041584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	27041584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	26216990	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	23645565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	32343311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27041584, 30662561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	32343311, 33689684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30662561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35846429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	25422459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

U2AF2 (U2 small nuclear RNA auxiliary factor 2)