UPF2 (UPF2 regulator of nonsense mediated mRNA decay)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 26019
• Gene name: UPF2 regulator of nonsense mediated mRNA decay
• Gene symbol: UPF2
• Synonyms (NCBI Gene): HUPF2, RENT2, smg-3
• Chromosome: 10
• Chromosome location: 10p14
• Summary: This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA d

miRNA Show/Hide all (277)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020646	hsa-miR-155-5p	Proteomics	18668040
MIRT020646	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT049841	hsa-miR-92a-3p	CLASH	23622248
MIRT020646	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT020646	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT1476137	hsa-miR-103a	CLIP-seq
MIRT1476138	hsa-miR-107	CLIP-seq
MIRT1476139	hsa-miR-127-5p	CLIP-seq
MIRT1476140	hsa-miR-1301	CLIP-seq
MIRT1476141	hsa-miR-1343	CLIP-seq
MIRT1476142	hsa-miR-137	CLIP-seq
MIRT1476143	hsa-miR-138	CLIP-seq
MIRT1476144	hsa-miR-25	CLIP-seq
MIRT1476145	hsa-miR-3126-3p	CLIP-seq
MIRT1476146	hsa-miR-3165	CLIP-seq
MIRT1476147	hsa-miR-32	CLIP-seq
MIRT1476148	hsa-miR-320e	CLIP-seq
MIRT1476149	hsa-miR-3614-3p	CLIP-seq
MIRT1476150	hsa-miR-363	CLIP-seq
MIRT1476151	hsa-miR-3667-3p	CLIP-seq
MIRT1476152	hsa-miR-367	CLIP-seq
MIRT1476153	hsa-miR-3974	CLIP-seq
MIRT1476154	hsa-miR-4297	CLIP-seq
MIRT1476155	hsa-miR-4299	CLIP-seq
MIRT1476156	hsa-miR-4456	CLIP-seq
MIRT1476157	hsa-miR-4490	CLIP-seq
MIRT1476158	hsa-miR-4635	CLIP-seq
MIRT1476159	hsa-miR-4699-5p	CLIP-seq
MIRT1476160	hsa-miR-4762-3p	CLIP-seq
MIRT1476161	hsa-miR-4774-5p	CLIP-seq
MIRT1476162	hsa-miR-494	CLIP-seq
MIRT1476163	hsa-miR-5047	CLIP-seq
MIRT1476164	hsa-miR-92a	CLIP-seq
MIRT1476165	hsa-miR-92b	CLIP-seq
MIRT1476137	hsa-miR-103a	CLIP-seq
MIRT1476138	hsa-miR-107	CLIP-seq
MIRT1476139	hsa-miR-127-5p	CLIP-seq
MIRT1476140	hsa-miR-1301	CLIP-seq
MIRT1476166	hsa-miR-1305	CLIP-seq
MIRT1476142	hsa-miR-137	CLIP-seq
MIRT1476143	hsa-miR-138	CLIP-seq
MIRT1476167	hsa-miR-149	CLIP-seq
MIRT1476168	hsa-miR-203	CLIP-seq
MIRT1476169	hsa-miR-2052	CLIP-seq
MIRT1476170	hsa-miR-219-5p	CLIP-seq
MIRT1476171	hsa-miR-24	CLIP-seq
MIRT1476144	hsa-miR-25	CLIP-seq
MIRT1476172	hsa-miR-3064-5p	CLIP-seq
MIRT1476147	hsa-miR-32	CLIP-seq
MIRT1476148	hsa-miR-320e	CLIP-seq
MIRT1476173	hsa-miR-326	CLIP-seq
MIRT1476174	hsa-miR-330-5p	CLIP-seq
MIRT1476175	hsa-miR-3607-5p	CLIP-seq
MIRT1476150	hsa-miR-363	CLIP-seq
MIRT1476152	hsa-miR-367	CLIP-seq
MIRT1476176	hsa-miR-4253	CLIP-seq
MIRT1476177	hsa-miR-4284	CLIP-seq
MIRT1476155	hsa-miR-4299	CLIP-seq
MIRT1476178	hsa-miR-4307	CLIP-seq
MIRT1476179	hsa-miR-4310	CLIP-seq
MIRT1476180	hsa-miR-4474-5p	CLIP-seq
MIRT1476181	hsa-miR-4521	CLIP-seq
MIRT1476182	hsa-miR-4659a-3p	CLIP-seq
MIRT1476183	hsa-miR-4659b-3p	CLIP-seq
MIRT1476159	hsa-miR-4699-5p	CLIP-seq
MIRT1476184	hsa-miR-4705	CLIP-seq
MIRT1476185	hsa-miR-4716-5p	CLIP-seq
MIRT1476160	hsa-miR-4762-3p	CLIP-seq
MIRT1476186	hsa-miR-4782-3p	CLIP-seq
MIRT1476187	hsa-miR-4794	CLIP-seq
MIRT1476163	hsa-miR-5047	CLIP-seq
MIRT1476188	hsa-miR-548p	CLIP-seq
MIRT1476189	hsa-miR-587	CLIP-seq
MIRT1476164	hsa-miR-92a	CLIP-seq
MIRT1476165	hsa-miR-92b	CLIP-seq
MIRT1476190	hsa-miR-942	CLIP-seq
MIRT1476137	hsa-miR-103a	CLIP-seq
MIRT1476138	hsa-miR-107	CLIP-seq
MIRT1476140	hsa-miR-1301	CLIP-seq
MIRT1476142	hsa-miR-137	CLIP-seq
MIRT2143476	hsa-miR-199a-3p	CLIP-seq
MIRT2143477	hsa-miR-199b-3p	CLIP-seq
MIRT1476144	hsa-miR-25	CLIP-seq
MIRT2143478	hsa-miR-3129-5p	CLIP-seq
MIRT1476147	hsa-miR-32	CLIP-seq
MIRT1476150	hsa-miR-363	CLIP-seq
MIRT1476152	hsa-miR-367	CLIP-seq
MIRT2143479	hsa-miR-4760-5p	CLIP-seq
MIRT2143480	hsa-miR-4797-3p	CLIP-seq
MIRT1476163	hsa-miR-5047	CLIP-seq
MIRT1476164	hsa-miR-92a	CLIP-seq
MIRT1476165	hsa-miR-92b	CLIP-seq
MIRT2143481	hsa-miR-936	CLIP-seq
MIRT2143482	hsa-miR-4674	CLIP-seq
MIRT2657255	hsa-miR-1231	CLIP-seq
MIRT2657256	hsa-miR-1245b-5p	CLIP-seq
MIRT2657257	hsa-miR-1253	CLIP-seq
MIRT2657258	hsa-miR-1261	CLIP-seq
MIRT2657259	hsa-miR-1287	CLIP-seq
MIRT2657260	hsa-miR-1290	CLIP-seq
MIRT2657261	hsa-miR-1299	CLIP-seq
MIRT1476141	hsa-miR-1343	CLIP-seq
MIRT1476167	hsa-miR-149	CLIP-seq
MIRT2657262	hsa-miR-1587	CLIP-seq
MIRT2657263	hsa-miR-188-5p	CLIP-seq
MIRT2657264	hsa-miR-205	CLIP-seq
MIRT2657265	hsa-miR-2116	CLIP-seq
MIRT1476171	hsa-miR-24	CLIP-seq
MIRT1476172	hsa-miR-3064-5p	CLIP-seq
MIRT2657266	hsa-miR-3134	CLIP-seq
MIRT2657267	hsa-miR-3135b	CLIP-seq
MIRT2657268	hsa-miR-3142	CLIP-seq
MIRT1476146	hsa-miR-3165	CLIP-seq
MIRT2657269	hsa-miR-320a	CLIP-seq
MIRT2657270	hsa-miR-320b	CLIP-seq
MIRT2657271	hsa-miR-320c	CLIP-seq
MIRT2657272	hsa-miR-320d	CLIP-seq
MIRT1476173	hsa-miR-326	CLIP-seq
MIRT1476174	hsa-miR-330-5p	CLIP-seq
MIRT2657273	hsa-miR-335	CLIP-seq
MIRT2657274	hsa-miR-339-5p	CLIP-seq
MIRT2657275	hsa-miR-34c-3p	CLIP-seq
MIRT2657276	hsa-miR-361-3p	CLIP-seq
MIRT1476149	hsa-miR-3614-3p	CLIP-seq
MIRT1476151	hsa-miR-3667-3p	CLIP-seq
MIRT2657277	hsa-miR-3679-3p	CLIP-seq
MIRT2657278	hsa-miR-370	CLIP-seq
MIRT2657279	hsa-miR-380	CLIP-seq
MIRT2657280	hsa-miR-382	CLIP-seq
MIRT2657281	hsa-miR-3978	CLIP-seq
MIRT2657282	hsa-miR-4263	CLIP-seq
MIRT1476177	hsa-miR-4284	CLIP-seq
MIRT2657283	hsa-miR-4287	CLIP-seq
MIRT2657284	hsa-miR-4288	CLIP-seq
MIRT1476154	hsa-miR-4297	CLIP-seq
MIRT2657285	hsa-miR-4312	CLIP-seq
MIRT2657286	hsa-miR-4326	CLIP-seq
MIRT2657287	hsa-miR-4429	CLIP-seq
MIRT1476156	hsa-miR-4456	CLIP-seq
MIRT2657288	hsa-miR-4469	CLIP-seq
MIRT2657289	hsa-miR-4492	CLIP-seq
MIRT2657290	hsa-miR-4498	CLIP-seq
MIRT2657291	hsa-miR-4502	CLIP-seq
MIRT2657292	hsa-miR-4522	CLIP-seq
MIRT2657293	hsa-miR-4534	CLIP-seq
MIRT1476158	hsa-miR-4635	CLIP-seq
MIRT2657294	hsa-miR-4656	CLIP-seq
MIRT1476182	hsa-miR-4659a-3p	CLIP-seq
MIRT1476183	hsa-miR-4659b-3p	CLIP-seq
MIRT2143482	hsa-miR-4674	CLIP-seq
MIRT2657295	hsa-miR-4675	CLIP-seq
MIRT2657296	hsa-miR-4677-5p	CLIP-seq
MIRT2657297	hsa-miR-4685-3p	CLIP-seq
MIRT1476159	hsa-miR-4699-5p	CLIP-seq
MIRT1476184	hsa-miR-4705	CLIP-seq
MIRT2657298	hsa-miR-4713-5p	CLIP-seq
MIRT2657299	hsa-miR-4714-5p	CLIP-seq
MIRT2657300	hsa-miR-4738-3p	CLIP-seq
MIRT2657301	hsa-miR-4741	CLIP-seq
MIRT2657302	hsa-miR-4762-5p	CLIP-seq
MIRT1476161	hsa-miR-4774-5p	CLIP-seq
MIRT2657303	hsa-miR-4780	CLIP-seq
MIRT1476187	hsa-miR-4794	CLIP-seq
MIRT1476162	hsa-miR-494	CLIP-seq
MIRT2657304	hsa-miR-513c	CLIP-seq
MIRT2657305	hsa-miR-514b-5p	CLIP-seq
MIRT2657306	hsa-miR-520d-5p	CLIP-seq
MIRT2657307	hsa-miR-524-5p	CLIP-seq
MIRT2657308	hsa-miR-548ad	CLIP-seq
MIRT2657309	hsa-miR-576-3p	CLIP-seq
MIRT2657310	hsa-miR-576-5p	CLIP-seq
MIRT2657311	hsa-miR-579	CLIP-seq
MIRT1476189	hsa-miR-587	CLIP-seq
MIRT2657312	hsa-miR-623	CLIP-seq
MIRT2657313	hsa-miR-632	CLIP-seq
MIRT2657314	hsa-miR-635	CLIP-seq
MIRT2657315	hsa-miR-671-5p	CLIP-seq
MIRT2657316	hsa-miR-718	CLIP-seq
MIRT2657317	hsa-miR-762	CLIP-seq
MIRT2657318	hsa-miR-875-3p	CLIP-seq
MIRT2657319	hsa-miR-885-5p	CLIP-seq
MIRT2657320	hsa-miR-888	CLIP-seq
MIRT1476190	hsa-miR-942	CLIP-seq
MIRT2657256	hsa-miR-1245b-5p	CLIP-seq
MIRT2657257	hsa-miR-1253	CLIP-seq
MIRT2657258	hsa-miR-1261	CLIP-seq
MIRT2657259	hsa-miR-1287	CLIP-seq
MIRT2657260	hsa-miR-1290	CLIP-seq
MIRT1476141	hsa-miR-1343	CLIP-seq
MIRT1476167	hsa-miR-149	CLIP-seq
MIRT2694772	hsa-miR-155	CLIP-seq
MIRT2657262	hsa-miR-1587	CLIP-seq
MIRT2657263	hsa-miR-188-5p	CLIP-seq
MIRT2657264	hsa-miR-205	CLIP-seq
MIRT2657265	hsa-miR-2116	CLIP-seq
MIRT2694773	hsa-miR-2355-3p	CLIP-seq
MIRT1476171	hsa-miR-24	CLIP-seq
MIRT1476172	hsa-miR-3064-5p	CLIP-seq
MIRT1476145	hsa-miR-3126-3p	CLIP-seq
MIRT2657266	hsa-miR-3134	CLIP-seq
MIRT2657267	hsa-miR-3135b	CLIP-seq
MIRT2657268	hsa-miR-3142	CLIP-seq
MIRT1476146	hsa-miR-3165	CLIP-seq
MIRT2694774	hsa-miR-3189-3p	CLIP-seq
MIRT2694775	hsa-miR-3201	CLIP-seq
MIRT2657269	hsa-miR-320a	CLIP-seq
MIRT2657270	hsa-miR-320b	CLIP-seq
MIRT2657271	hsa-miR-320c	CLIP-seq
MIRT2657272	hsa-miR-320d	CLIP-seq
MIRT1476173	hsa-miR-326	CLIP-seq
MIRT1476174	hsa-miR-330-5p	CLIP-seq
MIRT2657273	hsa-miR-335	CLIP-seq
MIRT2657274	hsa-miR-339-5p	CLIP-seq
MIRT2657275	hsa-miR-34c-3p	CLIP-seq
MIRT2657276	hsa-miR-361-3p	CLIP-seq
MIRT1476149	hsa-miR-3614-3p	CLIP-seq
MIRT1476151	hsa-miR-3667-3p	CLIP-seq
MIRT2657277	hsa-miR-3679-3p	CLIP-seq
MIRT2657278	hsa-miR-370	CLIP-seq
MIRT2657279	hsa-miR-380	CLIP-seq
MIRT2657280	hsa-miR-382	CLIP-seq
MIRT2657281	hsa-miR-3978	CLIP-seq
MIRT2657282	hsa-miR-4263	CLIP-seq
MIRT1476177	hsa-miR-4284	CLIP-seq
MIRT2657283	hsa-miR-4287	CLIP-seq
MIRT1476154	hsa-miR-4297	CLIP-seq
MIRT2657286	hsa-miR-4326	CLIP-seq
MIRT2694776	hsa-miR-4427	CLIP-seq
MIRT2657287	hsa-miR-4429	CLIP-seq
MIRT2694777	hsa-miR-4437	CLIP-seq
MIRT1476156	hsa-miR-4456	CLIP-seq
MIRT2657288	hsa-miR-4469	CLIP-seq
MIRT1476157	hsa-miR-4490	CLIP-seq
MIRT2657289	hsa-miR-4492	CLIP-seq
MIRT2657290	hsa-miR-4498	CLIP-seq
MIRT2657291	hsa-miR-4502	CLIP-seq
MIRT2657292	hsa-miR-4522	CLIP-seq
MIRT2657293	hsa-miR-4534	CLIP-seq
MIRT1476158	hsa-miR-4635	CLIP-seq
MIRT2657294	hsa-miR-4656	CLIP-seq
MIRT1476182	hsa-miR-4659a-3p	CLIP-seq
MIRT1476183	hsa-miR-4659b-3p	CLIP-seq
MIRT2143482	hsa-miR-4674	CLIP-seq
MIRT2657295	hsa-miR-4675	CLIP-seq
MIRT2657296	hsa-miR-4677-5p	CLIP-seq
MIRT2694778	hsa-miR-4680-3p	CLIP-seq
MIRT2657297	hsa-miR-4685-3p	CLIP-seq
MIRT1476159	hsa-miR-4699-5p	CLIP-seq
MIRT1476184	hsa-miR-4705	CLIP-seq
MIRT2657298	hsa-miR-4713-5p	CLIP-seq
MIRT2657299	hsa-miR-4714-5p	CLIP-seq
MIRT2657300	hsa-miR-4738-3p	CLIP-seq
MIRT2657301	hsa-miR-4741	CLIP-seq
MIRT2694779	hsa-miR-4742-3p	CLIP-seq
MIRT2657302	hsa-miR-4762-5p	CLIP-seq
MIRT1476161	hsa-miR-4774-5p	CLIP-seq
MIRT2657303	hsa-miR-4780	CLIP-seq
MIRT2694780	hsa-miR-4791	CLIP-seq
MIRT1476187	hsa-miR-4794	CLIP-seq
MIRT1476162	hsa-miR-494	CLIP-seq
MIRT2657304	hsa-miR-513c	CLIP-seq
MIRT2657305	hsa-miR-514b-5p	CLIP-seq
MIRT2657306	hsa-miR-520d-5p	CLIP-seq
MIRT2657307	hsa-miR-524-5p	CLIP-seq
MIRT2657308	hsa-miR-548ad	CLIP-seq
MIRT2657309	hsa-miR-576-3p	CLIP-seq
MIRT2657310	hsa-miR-576-5p	CLIP-seq
MIRT2657311	hsa-miR-579	CLIP-seq
MIRT1476189	hsa-miR-587	CLIP-seq
MIRT2657312	hsa-miR-623	CLIP-seq
MIRT2657314	hsa-miR-635	CLIP-seq
MIRT2694781	hsa-miR-676	CLIP-seq
MIRT2657317	hsa-miR-762	CLIP-seq
MIRT2657318	hsa-miR-875-3p	CLIP-seq
MIRT2657319	hsa-miR-885-5p	CLIP-seq
MIRT2657320	hsa-miR-888	CLIP-seq
MIRT1476190	hsa-miR-942	CLIP-seq

Gene ontology (GO) Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	18369367, 19556969
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	16488880, 17468741
GO:0001889	Process	Liver development	IEA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	11163187, 11544179, 12417715, 14636577, 15231747, 15680326, 16086026, 16452507, 16488880, 16601204, 17468741, 17469741, 18066079, 18256688, 19150429, 19417104, 19478851, 19503078, 19556969, 20371770, 20479275, 20930030, 21145460, 22522823, 23788676, 25220460, 25416956, 26496610, 352
GO:0005634	Component	Nucleus	IDA	14636577, 21829167
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	14636577
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006406	Process	MRNA export from nucleus	TAS	16488880
GO:0031100	Process	Animal organ regeneration	IEA
GO:0035145	Component	Exon-exon junction complex	IBA
GO:0035145	Component	Exon-exon junction complex	IDA	16601204
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA
GO:0042162	Function	Telomeric DNA binding	IDA	17916692
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

Other IDs

• MIM: 605529
• HGNC: 17854
• e!Ensembl: ENSG00000151461

Protein

• UniProt ID: Q9HAU5
• Protein name: Regulator of nonsense transcripts 2 (Up-frameshift suppressor 2 homolog) (hUpf2)
• Protein function: Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC). Recruited by UPF3B associated with the EJC core at the cytoplasmic side of the nuclear envelope and
• PDB: 1UW4 , 2WJV , 4CEK , 4CEM , 7NWU , 7QG6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02854	MIF4G	773 → 986	MIF4G domain	Family
  PF02854	MIF4G	570 → 758	MIF4G domain	Family
  PF02854	MIF4G	162 → 431	MIF4G domain	Family
  PF04050	Upf2	1071 → 1218	Up-frameshift suppressor 2	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11073994}.
• Sequence:

  MPAERKKPASMEEKDSLPNNKEKDCSERRTVSSKERPKDDIKLTAKKEVSKAPEDKKKRL
  EDDKRKKEDKERKKKDEEKVKAEEESKKKEEEEKKKHQEEERKKQEEQAKRQQEEEAAAQ
  MKEKEESIQLHQEAWERHHLRKELRSKNQNAPDSRPEENFFSRLDSSLKKNTAFVKKLKT
  ITEQQRDSLSHDFNGLNLSKYIAEAVASIVEAKLKISDVNCAVHLCSLFHQRYADFAPSL
  LQVWKKHFEARKEEKTPNITKLRTDLRFIAELTIVGIFTDKEGLSLIYEQLKNIINADRE
  SHTHVSVVISFCRHCGDDIAGLVPRKVKSAAEKFNLSFPPSEIISPEKQQPFQNLLKEYF
  TSLTKHLKRDHRELQNTERQNRRILHSKGELSEDRHKQYEEFAMSYQKLLANSQSLADLL
  DENMPDLPQDKPTPEEHGPGIDIFTPGKPGEYDLEGGIWEDEDARNFYENLIDLKAFVPA
  ILFKDNEKSCQNKESNKDDTKEAKESKENKEVSSPDDLELELENLEINDDTLELEGGDEA
  EDLTKKLLDEQEQEDEEASTGSHLKLIVDAFLQQLPNCVNRDLIDKAAMDFCMNMNTKAN
  RKKLVRALFIVPRQRLDLLPFYARLVATLHPCMSDVAEDLCSMLRGDFRFHVRKKDQINI
  ETKNKTVRFIGELTKFKMFTKNDTLHCLKMLLSDFSHHHIEMACTLLETCGRFLFRSPES
  HLRTSVLLEQMMRKKQAMHLDARYVTMVENAYYYCNPPPAEKTVKKKRPPLQEYVRKLLY
  KDLSKVTTEKVLRQMRKLPWQDQEVKDYVICCMINIWNVKYNSIHCVANLLAGLVLYQED
  VGIHVVDGVLEDIRLGMEVNQPKFNQRRISSAKFLGELYNYRMVESAVIFRTLYSFTSFG
  VNPDGSPSSLDPPEHLFRIRLVCTILDTCGQYFDRGSSKRKLDCFLVYFQRYVWWKKSLE
  VWTKDHPFPIDIDYMISDTLELLRPKIKLCNSLEESIRQVQDLEREFLIKLGLVNDKDSK
  DSMTEGENLEEDEEEEEGGAETEEQSGNESEVNEPEEEEGSDNDDDEGEEEEEENTDYLT
  DSNKENETDEENTEVMIKGGGLKHVPCVEDEDFIQALDKMMLENLQQRSGESVKVHQLDV
  AIPLHLKSQLRKGPPLGGGEGEAESADTMPFVMLTRKGNKQQFKILNVPMSSQLAANHWN
  QQQAEQEERMRMKKLTLDINERQEQEDYQEMLQSLAQRPAPANTNRERRPRYQHPKGAPN
  ADLIFKTGGRRR

• Sequence length: 1272

Pathways

KEGG Pathway	Reactome Pathway
Nucleocytoplasmic transport	Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
mRNA surveillance pathway

Associated diseases

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)

Unknown / Other Associations Show/Hide Unknown Diseases (10)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	association	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	30177863	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (9)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34839022	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35640974	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	31585809		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	32860660	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23376982		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31718065		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18612427		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31585809		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36273492	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

UPF3A 3 shared pathwaysNucleocytoplasmic transport, mRNA surveillance pathway, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) Related via 3 shared pathways including Nucleocytoplasmic transport, mRNA surveillance pathway. UPF1 3 shared pathwaysNucleocytoplasmic transport, mRNA surveillance pathway, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) Related via 3 shared pathways including Nucleocytoplasmic transport, mRNA surveillance pathway. SMG6 1 shared diseaseDiverticular disease 2 shared pathwaysmRNA surveillance pathway, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) 1 shared evidence sourceGWAS catalog (Diverticular disease) Related via 2 shared pathways including mRNA surveillance pathway, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) — evidence mostly GWAS catalog. DDX19B 2 shared pathwaysNucleocytoplasmic transport, mRNA surveillance pathway Related via 2 shared pathways including Nucleocytoplasmic transport, mRNA surveillance pathway. PNN 2 shared pathwaysNucleocytoplasmic transport, mRNA surveillance pathway Related via 2 shared pathways including Nucleocytoplasmic transport, mRNA surveillance pathway.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
UPF3A	0	[]	3	["Nucleocytoplasmic transport","mRNA surveillance pathway","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)"]	0	[]
UPF1	0	[]	3	["Nucleocytoplasmic transport","mRNA surveillance pathway","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)"]	0	[]
SMG6	1	["Diverticular disease"]	2	["mRNA surveillance pathway","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)"]	1	["GWAS catalog (Diverticular disease)"]
DDX19B	0	[]	2	["Nucleocytoplasmic transport","mRNA surveillance pathway"]	0	[]
PNN	0	[]	2	["Nucleocytoplasmic transport","mRNA surveillance pathway"]	0	[]

Diseases Linked via Similar Genes

Attention deficit hyperactivity disorder Linked via 2 of 5 related genesUPF1, SMG6 Schizophrenia Linked via 2 of 5 related genesUPF1, SMG6 Cardiovascular disease Linked via 1 of 5 related genesUPF3A Congenital heart disease Linked via 1 of 5 related genesUPF1 Global developmental delay Linked via 1 of 5 related genesUPF1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Attention deficit hyperactivity disorder	2	["UPF1","SMG6"]
Schizophrenia	2	["UPF1","SMG6"]
Cardiovascular disease	1	["UPF3A"]
Congenital heart disease	1	["UPF1"]
Global developmental delay	1	["UPF1"]