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	29072
Gene name	SET domain containing 2, histone lysine methyltransferase
Gene symbol	SETD2
Synonyms (NCBI Gene)	HBP231HIF-1HIP-1HSPC069HYPBKMT3ALLSMRD70RAPASSET2p231HBP
Chromosome	3
Chromosome location	3p21.31
Summary	Huntington`s disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting

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SNP ID	Visualize variation	Clinical significance	Consequence
rs115788094	G>A,T	Conflicting-interpretations-of-pathogenicity, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs869025569	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs869025570	A>C	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs869025571	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs869025572	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057518410	G>A	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057523157	G>A	Pathogenic, likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1064794751	T>A	Likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1064795661	C>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553691550	C>T	Drug-response	Splice acceptor variant, intron variant
rs1553699115	TTCT>-	Pathogenic	Splice acceptor variant, non coding transcript variant, coding sequence variant
rs1553700642	->TA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1559634490	->C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1559720382	T>C	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs1575817869	AG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1575818503	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

153

Show/Hide all (153)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050126	hsa-miR-26a-5p	CLASH	23622248
MIRT044337	hsa-miR-106b-5p	CLASH	23622248
MIRT053100	hsa-miR-199b-5p	Luciferase reporter assayqRT-PCRWestern blot	23594994
MIRT437893	hsa-miR-21-5p	ChIP-seqLuciferase reporter assay	24983504
MIRT731626	hsa-miR-186-5p	Luciferase reporter assay	27159677
MIRT731626	hsa-miR-186-5p	Luciferase reporter assay	27159677
MIRT044337	hsa-miR-106b-5p	ChIP-seqImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	25714014
MIRT044337	hsa-miR-106b-5p	ChIP-seqImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot	25714014
MIRT1340103	hsa-miR-1264	CLIP-seq
MIRT1340104	hsa-miR-1914	CLIP-seq
MIRT1340105	hsa-miR-3668	CLIP-seq
MIRT1340106	hsa-miR-3975	CLIP-seq
MIRT1340107	hsa-miR-4679	CLIP-seq
MIRT1340108	hsa-miR-4732-5p	CLIP-seq
MIRT1340109	hsa-miR-520d-5p	CLIP-seq
MIRT1340110	hsa-miR-524-5p	CLIP-seq
MIRT1340111	hsa-miR-548ad	CLIP-seq
MIRT1340112	hsa-miR-548g	CLIP-seq
MIRT1340113	hsa-miR-548p	CLIP-seq
MIRT2100505	hsa-miR-146a	CLIP-seq
MIRT2100506	hsa-miR-146b-5p	CLIP-seq
MIRT2100507	hsa-miR-3714	CLIP-seq
MIRT2100508	hsa-miR-4699-3p	CLIP-seq
MIRT1340112	hsa-miR-548g	CLIP-seq
MIRT2100509	hsa-miR-596	CLIP-seq
MIRT2325220	hsa-miR-1302	CLIP-seq
MIRT2325221	hsa-miR-3660	CLIP-seq
MIRT2325222	hsa-miR-4298	CLIP-seq
MIRT2325223	hsa-miR-4526	CLIP-seq
MIRT2325224	hsa-miR-4648	CLIP-seq
MIRT2325225	hsa-miR-4651	CLIP-seq
MIRT2325226	hsa-miR-608	CLIP-seq
MIRT2325227	hsa-miR-628-5p	CLIP-seq
MIRT2440191	hsa-miR-1253	CLIP-seq
MIRT2440192	hsa-miR-2277-3p	CLIP-seq
MIRT2440193	hsa-miR-3065-3p	CLIP-seq
MIRT2440194	hsa-miR-4428	CLIP-seq
MIRT2440195	hsa-miR-4434	CLIP-seq
MIRT2440196	hsa-miR-4516	CLIP-seq
MIRT2620887	hsa-miR-1182	CLIP-seq
MIRT2620888	hsa-miR-1238	CLIP-seq
MIRT2440191	hsa-miR-1253	CLIP-seq
MIRT1340103	hsa-miR-1264	CLIP-seq
MIRT2620889	hsa-miR-129-3p	CLIP-seq
MIRT2325220	hsa-miR-1302	CLIP-seq
MIRT2620890	hsa-miR-1305	CLIP-seq
MIRT2620891	hsa-miR-135a	CLIP-seq
MIRT2620892	hsa-miR-135b	CLIP-seq
MIRT1340104	hsa-miR-1914	CLIP-seq
MIRT2620893	hsa-miR-193a-5p	CLIP-seq
MIRT2440192	hsa-miR-2277-3p	CLIP-seq
MIRT2620894	hsa-miR-23a	CLIP-seq
MIRT2620895	hsa-miR-23b	CLIP-seq
MIRT2620896	hsa-miR-23c	CLIP-seq
MIRT2440193	hsa-miR-3065-3p	CLIP-seq
MIRT2620897	hsa-miR-3120-5p	CLIP-seq
MIRT2620898	hsa-miR-3148	CLIP-seq
MIRT2620899	hsa-miR-3167	CLIP-seq
MIRT2620900	hsa-miR-3176	CLIP-seq
MIRT2620901	hsa-miR-3183	CLIP-seq
MIRT2620902	hsa-miR-323-3p	CLIP-seq
MIRT2620903	hsa-miR-34b	CLIP-seq
MIRT2620904	hsa-miR-3614-5p	CLIP-seq
MIRT1340105	hsa-miR-3668	CLIP-seq
MIRT2620905	hsa-miR-3674	CLIP-seq
MIRT2620906	hsa-miR-369-3p	CLIP-seq
MIRT2620907	hsa-miR-374a	CLIP-seq
MIRT2620908	hsa-miR-374b	CLIP-seq
MIRT2620909	hsa-miR-374c	CLIP-seq
MIRT2620910	hsa-miR-3922-3p	CLIP-seq
MIRT2620911	hsa-miR-3935	CLIP-seq
MIRT1340106	hsa-miR-3975	CLIP-seq
MIRT2620912	hsa-miR-4263	CLIP-seq
MIRT2620913	hsa-miR-4287	CLIP-seq
MIRT2325222	hsa-miR-4298	CLIP-seq
MIRT2440194	hsa-miR-4428	CLIP-seq
MIRT2440195	hsa-miR-4434	CLIP-seq
MIRT2620914	hsa-miR-4435	CLIP-seq
MIRT2620915	hsa-miR-4469	CLIP-seq
MIRT2620916	hsa-miR-4502	CLIP-seq
MIRT2440196	hsa-miR-4516	CLIP-seq
MIRT2325224	hsa-miR-4648	CLIP-seq
MIRT2325225	hsa-miR-4651	CLIP-seq
MIRT1340107	hsa-miR-4679	CLIP-seq
MIRT2620917	hsa-miR-4685-3p	CLIP-seq
MIRT2620918	hsa-miR-4723-3p	CLIP-seq
MIRT1340108	hsa-miR-4732-5p	CLIP-seq
MIRT1340109	hsa-miR-520d-5p	CLIP-seq
MIRT1340110	hsa-miR-524-5p	CLIP-seq
MIRT2620919	hsa-miR-548aa	CLIP-seq
MIRT2620920	hsa-miR-548ac	CLIP-seq
MIRT1340111	hsa-miR-548ad	CLIP-seq
MIRT2620921	hsa-miR-548d-3p	CLIP-seq
MIRT1340112	hsa-miR-548g	CLIP-seq
MIRT1340113	hsa-miR-548p	CLIP-seq
MIRT2620922	hsa-miR-548z	CLIP-seq
MIRT2620923	hsa-miR-576-5p	CLIP-seq
MIRT2325226	hsa-miR-608	CLIP-seq
MIRT2620924	hsa-miR-655	CLIP-seq
MIRT2620925	hsa-miR-876-5p	CLIP-seq
MIRT2620926	hsa-miR-944	CLIP-seq
MIRT2620887	hsa-miR-1182	CLIP-seq
MIRT2620888	hsa-miR-1238	CLIP-seq
MIRT2440191	hsa-miR-1253	CLIP-seq
MIRT1340103	hsa-miR-1264	CLIP-seq
MIRT2620889	hsa-miR-129-3p	CLIP-seq
MIRT2325220	hsa-miR-1302	CLIP-seq
MIRT2620890	hsa-miR-1305	CLIP-seq
MIRT2620891	hsa-miR-135a	CLIP-seq
MIRT2620892	hsa-miR-135b	CLIP-seq
MIRT1340104	hsa-miR-1914	CLIP-seq
MIRT2620893	hsa-miR-193a-5p	CLIP-seq
MIRT2440192	hsa-miR-2277-3p	CLIP-seq
MIRT2440193	hsa-miR-3065-3p	CLIP-seq
MIRT2620897	hsa-miR-3120-5p	CLIP-seq
MIRT2620898	hsa-miR-3148	CLIP-seq
MIRT2620899	hsa-miR-3167	CLIP-seq
MIRT2620900	hsa-miR-3176	CLIP-seq
MIRT2620901	hsa-miR-3183	CLIP-seq
MIRT2620903	hsa-miR-34b	CLIP-seq
MIRT2620904	hsa-miR-3614-5p	CLIP-seq
MIRT1340105	hsa-miR-3668	CLIP-seq
MIRT2620910	hsa-miR-3922-3p	CLIP-seq
MIRT1340106	hsa-miR-3975	CLIP-seq
MIRT2620912	hsa-miR-4263	CLIP-seq
MIRT2620913	hsa-miR-4287	CLIP-seq
MIRT2325222	hsa-miR-4298	CLIP-seq
MIRT2440194	hsa-miR-4428	CLIP-seq
MIRT2440195	hsa-miR-4434	CLIP-seq
MIRT2620914	hsa-miR-4435	CLIP-seq
MIRT2620915	hsa-miR-4469	CLIP-seq
MIRT2620916	hsa-miR-4502	CLIP-seq
MIRT2440196	hsa-miR-4516	CLIP-seq
MIRT2325224	hsa-miR-4648	CLIP-seq
MIRT2325225	hsa-miR-4651	CLIP-seq
MIRT1340107	hsa-miR-4679	CLIP-seq
MIRT2620917	hsa-miR-4685-3p	CLIP-seq
MIRT2620918	hsa-miR-4723-3p	CLIP-seq
MIRT1340108	hsa-miR-4732-5p	CLIP-seq
MIRT1340109	hsa-miR-520d-5p	CLIP-seq
MIRT1340110	hsa-miR-524-5p	CLIP-seq
MIRT2690509	hsa-miR-532-3p	CLIP-seq
MIRT2620919	hsa-miR-548aa	CLIP-seq
MIRT2620920	hsa-miR-548ac	CLIP-seq
MIRT1340111	hsa-miR-548ad	CLIP-seq
MIRT2620921	hsa-miR-548d-3p	CLIP-seq
MIRT1340112	hsa-miR-548g	CLIP-seq
MIRT1340113	hsa-miR-548p	CLIP-seq
MIRT2620922	hsa-miR-548z	CLIP-seq
MIRT2620923	hsa-miR-576-5p	CLIP-seq
MIRT2325226	hsa-miR-608	CLIP-seq
MIRT2620925	hsa-miR-876-5p	CLIP-seq
MIRT2620926	hsa-miR-944	CLIP-seq

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Transcription factor	Regulation	Reference
HIF1A	Activation	18842833
HIF1A	Unknown	19091749

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	28890335
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	17500595, 19141475, 21988832, 28753426, 36537238
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IBA
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0005737	Component	Cytoplasm	IC	36359729
GO:0006281	Process	DNA repair	IEA
GO:0006298	Process	Mismatch repair	IMP	23622243
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006368	Process	Transcription elongation by RNA polymerase II	IMP	23325844
GO:0006974	Process	DNA damage response	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0010038	Process	Response to metal ion	IEA
GO:0010468	Process	Regulation of gene expression	IBA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IDA	36359729
GO:0010508	Process	Positive regulation of autophagy	IDA	36359729
GO:0010569	Process	Regulation of double-strand break repair via homologous recombination	IDA	24843002
GO:0010793	Process	Regulation of mRNA export from nucleus	IMP	19141475
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	28753426
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018023	Process	Peptidyl-lysine trimethylation	IDA	27518565
GO:0030154	Process	Cell differentiation	IEA
GO:0032259	Process	Methylation	IEA
GO:0032465	Process	Regulation of cytokinesis	IDA	27518565
GO:0032727	Process	Positive regulation of interferon-alpha production	IDA	28753426
GO:0034340	Process	Response to type I interferon	IDA	28753426
GO:0034728	Process	Nucleosome organization	IMP	23325844
GO:0035987	Process	Endodermal cell differentiation	ISS
GO:0042054	Function	Histone methyltransferase activity	IEA
GO:0043014	Function	Alpha-tubulin binding	IDA	27518565
GO:0043279	Process	Response to alkaloid	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046975	Function	Histone H3K36 methyltransferase activity	IBA
GO:0046975	Function	Histone H3K36 methyltransferase activity	IDA	23043551, 24843002, 26002201, 27474439, 28753426
GO:0046975	Function	Histone H3K36 methyltransferase activity	IEA
GO:0046975	Function	Histone H3K36 methyltransferase activity	IMP	19141475, 23325844, 23622243
GO:0048863	Process	Stem cell differentiation	ISS
GO:0051607	Process	Defense response to virus	IDA	28753426
GO:0051607	Process	Defense response to virus	IEA
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	36359729
GO:0140938	Function	Histone H3 methyltransferase activity	TAS
GO:0140955	Function	Histone H3K36 trimethyltransferase activity	IEA
GO:1902850	Process	Microtubule cytoskeleton organization involved in mitosis	IDA	27518565
GO:1905634	Process	Regulation of protein localization to chromatin	IDA	24843002

MIM	HGNC	e!Ensembl
612778	18420	ENSG00000181555

Q9BYW2

Protein name

Histone-lysine N-methyltransferase SETD2 (EC 2.1.1.359) (HIF-1) (Huntingtin yeast partner B) (Huntingtin-interacting protein 1) (HIP-1) (Huntingtin-interacting protein B) (Lysine N-methyltransferase 3A) (Protein-lysine N-methyltransferase SETD2) (EC 2.1.1

Protein function

Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439

PDB

2A7O , 2MDC , 2MDI , 2MDJ , 4FMU , 4H12 , 5JJY , 5JLB , 5JLE , 5LSS , 5LSX , 5LSY , 5LSZ , 5LT6 , 5LT7 , 5LT8 , 5V21 , 5V22 , 6J9J , 6VDB , 7EA8 , 7EVR , 7EVS , 7LZB , 7LZD , 7LZF , 7TY2 , 7TY3 , 8Q5P , 8RZU , 9EGZ , 9EH0 , 9EH1 , 9EH2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17907	AWS	1511 → 1547	AWS domain	Domain
PF00856	SET	1561 → 1667	SET domain	Family
PF00397	WW	2391 → 2420	WW domain	Domain
PF08236	SRI	2467 → 2557	SRI (Set2 Rpb1 interacting) domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11461154}.

Sequence

MKQLQPQPPPKMGDFYDPEHPTPEEEENEAKIENVQKTGFIKGPMFKGVASSRFLPKGTK
TKVNLEEQGRQKVSFSFSLTKKTLQNRFLTALGNEKQSDTPNPPAVPLQVDSTPKMKMEI
GDTLSTAEESSPPKSRVELGKIHFKKHLLHVTSRPLLATTTAVASPPTHAAPLPAVIAES
TTVDSPPSSPPPPPPPAQATTLSSPAPVTEPVALPHTPITVLMAAPVPLPVDVAVRSLKE
PPIIIVPESLEADTKQDTISNSLEEHVTQILNEQADISSKKEDSHIGKDEEIPDSSKISL
SCKKTGSKKKSSQSEGIFLGSESDEDSVRTSSSQRSHDLKFSASIEKERDFKKSSAPLKS
EDLGKPSRSKTDRDDKYFSYSKLERDTRYVSSRCRSERERRRSRSHSRSERGSRTNLSYS
RSERSHYYDSDRRYHRSSPYRERTRYSRPYTDNRARESSDSEEEYKKTYSRRTSSHSSSY
RDLRTSSYSKSDRDCKTETSYLEMERRGKYSSKLERESKRTSENEAIKRCCSPPNELGFR
RGSSYSKHDSSASRYKSTLSKPIPKSDKFKNSFCCTELNEEIKQSHSFSLQTPCSKGSEL
RMINKNPEREKAGSPAPSNRLNDSPTLKKLDELPIFKSEFITHDSHDSIKELDSLSKVKN
DQLRSFCPIELNINGSPGAESDLATFCTSKTDAVLMTSDDSVTGSELSPLVKACMLSSNG
FQNISRCKEKDLDDTCMLHKKSESPFRETEPLVSPHQDKLMSMPVMTVDYSKTVVKEPVD
TRVSCCKTKDSDIYCTLNDSNPSLCNSEAENIEPSVMKISSNSFMNVHLESKPVICDSRN
LTDHSKFACEEYKQSIGSTSSASVNHFDDLYQPIGSSGIASSLQSLPPGIKVDSLTLLKC
GENTSPVLDAVLKSKKSSEFLKHAGKETIVEVGSDLPDSGKGFASRENRRNNGLSGKCLQ
EAQEEGNSILPERRGRPEISLDERGEGGHVHTSDDSEVVFSSCDLNLTMEDSDGVTYALK
CDSSGHAPEIVSTVHEDYSGSSESSNDESDSEDTDSDDSSIPRNRLQSVVVVPKNSTLPM
EETSPCSSRSSQSYRHYSDHWEDERLESRRHLYEEKFESIASKACPQTDKFFLHKGTEKN
PEISFTQSSRKQIDNRLPELSHPQSDGVDSTSHTDVKSDPLGHPNSEETVKAKIPSRQQE
ELPIYSSDFEDVPNKSWQQTTFQNRPDSRLGKTELSFSSSCEIPHVDGLHSSEELRNLGW
DFSQEKPSTTYQQPDSSYGACGGHKYQQNAEQYGGTRDYWQGNGYWDPRSGRPPGTGVVY
DRTQGQVPDSLTDDREEEENWDQQDGSHFSDQSDKFLLSLQKDKGSVQAPEISSNSIKDT
LAVNEKKDFSKNLEKNDIKDRGPLKKRRQEIESDSESDGELQDRKKVRVEVEQGETSVPP
GSALVGPSCVMDDFRDPQRWKECAKQGKMPCYFDLIEENVYLTERKKNKSHRDIKRMQCE
CTPLSKDERAQGEIACGEDCLNRLLMIECSSRCPNGDYCSNRRFQRKQHADVEVILTEKK
GWGLRAAKDLPSNTFVLEYCGEVLDHKEFKARVKEYARNKNIHYYFMALKNDEIIDATQK
GNCSRFMNHSCEPNCETQKWTVNGQLRVGFFTTKLVPSGSELTFDYQFQRYGKEAQKCFC
GSANCRGYLGGENRVSIRAAGGKMKKERSRKKDSVDGELEALMENGEGLSDKNQVLSLSR
LMVRIETLEQKLTCLELIQNTHSQSCLKSFLERHGLSLLWIWMAELGDGRESNQKLQEEI
IKTLEHLPIPTKNMLEESKVLPIIQRWSQTKTAVPPLSEGDGYSSENTSRAHTPLNTPDP
STKLSTEADTDTPKKLMFRRLKIISENSMDSAISDATSELEGKDGKEDLDQLENVPVEEE
EELQSQQLLPQQLPECKVDSETNIEASKLPTSEPEADAEIEPKESNGTKLEEPINEETPS
QDEEEGVSDVESERSQEQPDKTVDISDLATKLLDSWKDLKEVYRIPKKSQTEKENTTTER
GRDAVGFRDQTPAPKTPNRSRERDPDKQTQNKEKRKRRSSLSPPSSAYERGTKRPDDRYD
TPTSKKKVRIKDRNKLSTEERRKLFEQEVAQREAQKQQQQMQNLGMTSPLPYDSLGYNAP
HHPFAGYPPGYPMQAYVDPSNPNAGKVLLPTPSMDPVCSPAPYDHAQPLVGHSTEPLSAP
PPVPVVPHVAAPVEVSSSQYVAQSDGVVHQDSSVAVLPVPAPGPVQGQNYSVWDSNQQSV
SVQQQYSPAQSQATIYYQGQTCPTVYGVTSPYSQTTPPIVQSYAQPSLQYIQGQQIFTAH
PQGVVVQPAAAVTTIVAPGQPQPLQPSEMVVTNNLLDLPPPSPPKPKTIVLPPNWKTARD
PEGKIYYYHVITRQTQWDPPTWESPGDDASLEHEAEMDLGTPTYDENPMKASKKPKTAEA
DTSSELAKKSKEVFRKEMSQFIVQCLNPYRKPDCKVGRITTTEDFKHLARKLTHGVMNKE
LKYCKNPEDLECNENVKHKTKEYIKKYMQKFGAVYKPKEDTELE

Sequence length

2564

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways		PKMTs methylate histone lysines

984

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute megakaryoblastic leukemia without down syndrome	Likely pathogenic	rs2043042281, rs1293916143	RCV001293748 RCV001293749
Autism spectrum disorder	Likely pathogenic	rs774671060	RCV003127362
Cerebellar vermis hypoplasia	Likely pathogenic; Pathogenic	rs1057523157	RCV000779643
Congenital cerebellar hypoplasia	Likely pathogenic; Pathogenic	rs1057523157	RCV001258009
Corpus callosum, agenesis of	Likely pathogenic; Pathogenic	rs1057523157	RCV000779643
Dandy-Walker syndrome	Likely pathogenic; Pathogenic	rs1559720382	RCV001258008
Genetic syndrome with a Dandy-Walker malformation as major feature	Likely pathogenic; Pathogenic	rs1559720382	RCV000779642
Intellectual developmental disorder, autosomal dominant 70	Pathogenic	rs2107651195	RCV002467456
Intellectual disability	Pathogenic	rs2107741763	RCV001526563
Luscan-Lumish syndrome	Pathogenic; Likely pathogenic	rs2107600390, rs2107651058, rs2107651620, rs2043159037, rs2107575654, rs2107651195, rs2107696360, rs2107739635, rs2545516405, rs2545459997, rs869025569, rs869025570, rs869025571, rs869025572, rs2545631303 View all (12 more)	RCV001387444 RCV001386079 RCV001390195 RCV001788514 RCV001775269 RCV001823014 RCV001993212 RCV001984731 RCV002291129 RCV002471404 RCV000208546 RCV000208561 RCV000208536 RCV000208551 RCV003150881 RCV003152923 RCV003234971 RCV003333597 RCV005254782 RCV003990322 RCV004594816 RCV000779643 RCV002533893 RCV000779642 RCV001232118 RCV001254166 RCV001302348
Neoplasm	Pathogenic	rs2043159037, rs2107696360, rs1057518410, rs1553699115	RCV004671413 RCV006274281 RCV006273719 RCV006273942
Rabin-Pappas syndrome	Likely pathogenic; Pathogenic	rs1057523157	RCV002467447
See cases	Likely pathogenic	rs2107651840	RCV003156148
SETD2 associated neurodevelopmental disorder with multiple congenital anomalies	Likely pathogenic; Pathogenic	rs1057523157	RCV004554776
SETD2-related disorder	Likely pathogenic; Pathogenic	rs2106710726, rs934035500, rs2545648723, rs1057523157	RCV004528029 RCV004539360 RCV004555056 RCV001267684
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2041433287	RCV005909226
Ventriculomegaly	Likely pathogenic; Pathogenic	rs1559720382	RCV000779642

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs76208147	RCV005889594
Autism	Uncertain significance	rs2043162382	RCV004698544
Cervical cancer	Benign	rs76208147, rs180872586	RCV005889595 RCV005925818
Colon adenocarcinoma	-; Benign	rs1485723437, rs76208147	RCV005922654 RCV005889593
Developmental disorder	Likely benign	rs78759480	RCV003764449
Genetic developmental and epileptic encephalopathy	Benign; Likely benign	rs139628048	RCV005625681
Hepatocellular carcinoma	-; Benign; Likely benign	rs1485723437, rs75248784	RCV005922655 RCV005889592
Hereditary ataxia	Benign; Likely benign	rs372869995	RCV005626314
Malignant tumor of esophagus	-	rs1485723437	RCV005920630
Malignant tumor of urinary bladder	Likely benign	rs775604042	RCV005904592
Neurodevelopmental disorder	Uncertain significance	rs2106700573, rs1057523157	RCV001374953 RCV002277658
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs1559744031, rs1162711197, rs775604042	RCV005930940 RCV005905968 RCV005904593
Sarcoma	Benign; Likely benign	rs76208147, rs755358803	RCV005890454 RCV005939193
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth	Uncertain significance	rs892374525	RCV005051853
Teratoma	Uncertain significance	rs2106723146	RCV003221387
Thymoma	Benign	rs76208147, rs180872586	RCV005890455 RCV005925819
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs116277395	RCV005897145
Wee1 Inhibitor response	drug response	rs1553691550	RCV000626444

Show/Hide Text Mining Associations (91)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	26646321, 27687306, 31155235, 37742030
Adenocarcinoma of Lung	Inhibit	35152527
Anorectal Malformations	Associate	36474027
Astrocytoma	Associate	34296393
Autism Spectrum Disorder	Associate	26637798
Autoimmune Diseases	Inhibit	38359295
Blast Crisis	Associate	36768374
Bone Cysts Aneurysmal	Associate	34657606
Brain Neoplasms	Associate	34576156
Breast Neoplasms	Inhibit	19698110
Breast Neoplasms	Associate	30990809, 33293374, 35653124, 36805183, 40429863
Carcinogenesis	Associate	19698110, 26646321, 27813512, 28852847, 37528416
Carcinogenesis	Inhibit	35152527
Carcinoma	Associate	27474439, 28498454
Carcinoma Hepatocellular	Associate	27023146, 35260047
Carcinoma Mucoepidermoid	Associate	30380176
Carcinoma Non Small Cell Lung	Associate	30093630, 33407425
Carcinoma Pancreatic Ductal	Associate	31060750
Carcinoma Renal Cell	Associate	20054297, 22483639, 23036577, 23620406, 23867514, 24029645, 24158655, 24821879, 24843002, 25124064, 25528216, 25714014, 25728682, 25853938, 26111976 View all (48 more)
Carcinoma Renal Cell	Inhibit	28260718
Cell Transformation Neoplastic	Associate	28498454
Central Nervous System Neoplasms	Associate	30419952
Chondroblastoma	Associate	27229140, 27474439, 32601382
Chordoma	Associate	27072194
Cleft Palate	Associate	29066084
Colitis Ulcerative	Associate	28524162
Colorectal Neoplasms	Associate	27023146, 30018131, 38064496
COVID 19	Associate	33936072
Death	Inhibit	28408295
Death	Associate	37479966
Demyelinating Diseases	Associate	38359295
Drug Related Side Effects and Adverse Reactions	Associate	30093630
Encephalomyelitis Autoimmune Experimental	Associate	38359295
Enteropathy Associated T Cell Lymphoma	Associate	27600764, 35979577
Esophageal Squamous Cell Carcinoma	Associate	29866946
Fibroma Ossifying	Associate	34657606
Gastrointestinal Stromal Tumors	Associate	31570771
Glioblastoma	Associate	26496030, 30861589, 34525361, 38079020
Glioma	Associate	23417712, 28852847, 30419952, 33287886
Granular Cell Tumor	Associate	34925233
Huntington Disease	Associate	16118227
Immunologic Deficiency Syndromes	Inhibit	28260718
Kidney Failure Chronic	Stimulate	23036577
Kidney Neoplasms	Associate	25728682, 28260718, 36662621, 37528416
Leukemia	Associate	24509477, 28498454, 29777171
Leukemia B Cell	Associate	35443279
Leukemia Lymphocytic Chronic B Cell	Associate	31054182, 36567979
Leukemia Mast Cell	Associate	28663576
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	40344211
Leukemia Myeloid Acute	Associate	24509477, 27462774, 29777171, 30922329, 34576219, 35833755, 37874744
Leukemia Myeloid Acute	Inhibit	36607144
Leukemia Prolymphocytic T Cell	Associate	27282254
Light Fixation Seizure Syndrome	Associate	29066084
Lung Neoplasms	Associate	33407425, 36653483
Lung Neoplasms	Inhibit	35152527
Lymphatic Metastasis	Associate	36653483
Lymphoma	Associate	34576156, 35443279
Lymphoma Follicular	Associate	35030632, 35443279
Lymphoma Large B Cell Diffuse	Associate	32469082, 35443279
Lymphoma T Cell	Associate	28122867, 35708139, 35979577
Lymphoma T Cell Peripheral	Associate	30307363, 35895386
Mastocytosis Systemic	Associate	28663576
Meningeal Carcinomatosis	Associate	26864202
Mesothelioma Malignant	Associate	27813512, 27834213, 32083805, 32504035, 34648949, 35999269
Muscular dystrophy congenital with central nervous system involvement	Associate	36768374
Neoplasm Metastasis	Inhibit	19698110, 35152527
Neoplasm Metastasis	Associate	27023146, 29486199, 29674707, 31060750, 33664427, 33722295, 36653483, 37418588
Neoplasm Metastasis	Stimulate	34580025
Neoplasms	Inhibit	19698110, 23867514, 24509477, 24821879, 27292023, 27528607, 27600764, 27614073, 28122867, 30487242, 31054182, 35152527, 35443279
Neoplasms	Associate	22397650, 23036577, 23417712, 23620406, 23644518, 24158655, 24710217, 25124064, 25728682, 25790038, 26494726, 26496030, 26559293, 26575290, 26646321 View all (31 more)
Neoplasms Cystic Mucinous and Serous	Associate	31098421
Neuroendocrine Tumors	Associate	29486199, 39447548
Neuroinflammatory Diseases	Associate	38359295
Pancreatic Neoplasms	Associate	36453584
Pancreatitis	Associate	36453584
Peritonitis	Associate	28910456, 37453150
Phyllodes Tumor	Associate	26832993, 33727697
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22237106, 24662245
Progressive Transformation of Germinal Centers	Associate	35443279
Prostatic Neoplasms	Associate	32931739
Prostatic Neoplasms Castration Resistant	Associate	30616239
Recombinant chromosome 8 syndrome	Associate	37479966
Rhabdoid Tumor	Associate	26111976
Rufous oculocutaneous albinism	Associate	35301413
Small Cell Lung Carcinoma	Associate	33880365
Stomach Neoplasms	Associate	28381181
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	32853382
Thrombosis	Associate	32029730
Thymic epithelial tumor	Associate	37703595
Thymoma	Associate	37703595
Uterine Cervical Dysplasia	Inhibit	31060750

SETD2 (SET domain containing 2, histone lysine methyltransferase)