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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SETD2 Gene

protein-coding GIFtS: 62
GCID: GC03M047033

SET domain containing 2

Explore 100 diseases affiliated with
SETD2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
SET Domain Containing 2¹ ²		P231HBP¹
HYPB¹ ² ³ ⁵		EC 2.1.1.43³ ⁸
HIF-1¹ ² ³		HBP231² ⁵
KMT3A¹ ² ³		FLJ23184¹
KIAA1732¹ ³ ⁵		Histone-Lysine N-Methyltransferase SETD2²
SET2² ³ ⁵		Huntingtin Interacting Protein 1²
Huntingtin Yeast Partner B² ³		HIF1³
Huntingtin-Interacting Protein B² ³		HSET2¹
Lysine N-Methyltransferase 3A² ³		Huntingtin-Interacting Protein 1³
HIP-1² ³		SET Domain-Containing Protein 2³

External Ids:	HGNC: 18420¹	Entrez Gene: 29072²	Ensembl: ENSG00000181555⁷	OMIM: 612778⁵	UniProtKB: Q9BYW2³

Export aliases for SETD2 gene to outside databases

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SETD2:

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 proteins characterized by WW motifs. This protein is a histone methyltransferase that is

specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This

protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated

RNA polymerase II. (provided by RefSeq, Aug 2008)

UniProtKB/Swiss-Prot: SETD2_HUMAN, Q9BYW2

Function: Histone methyltransferase that methylates 'Lys-36' of histone H3. H3 'Lys-36' methylation represents a

specific tag for epigenetic transcriptional activation. Probably plays a role in chromatin structure modulation during

elongation via its interaction with hyperphosphorylated POLR2A. Binds DNA at promoters. May also act as a

transcription activator that binds to promoters. Binds to the promoters of adenovirus 12 E1A gene in case of

infection, possibly leading to regulate its expression

Gene Wiki entry for SETD2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SETD2 gene promoter:
Sp1 NRSF form 1 AP-4 NRSF form 2 SREBP-1b SREBP-1a FOXO4 ARP-1 Sox9 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SETD2 promoter sequence

Search SABiosciences Chromatin IP Primers for SETD2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SETD2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.31 Ensembl cytogenetic band: 3p21.31 HGNC cytogenetic band: 3p21.31

SETD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SETD2 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M047033: view genomic region (about GC identifiers)

Start:	47,057,898 bp from pter	End:	47,205,467 bp from pter
Size:	147,570 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SETD2_HUMAN, Q9BYW2 (See protein sequence)

Recommended Name: Histone-lysine N-methyltransferase SETD2

Size: 2564 amino acids; 287597 Da

Subunit: Specifically interacts with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit

(POLR2A). Binds specifically to CTD heptad repeats doubly phosphorylated on 'Ser-2' and 'Ser-5' of each heptad.

Interacts with HTT

Subcellular location: Nucleus (Probable). Chromosome (Probable)

Sequence caution: Sequence=AAF29041.1; Type=Frameshift; Positions=Several; Sequence=AAH72440.1; Type=Erroneous

termination; Positions=463; Note=Translated as Glu; Sequence=AAI17163.1; Type=Erroneous initiation; Note=Translation

N-terminally extended; Sequence=AAI17165.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAT77612.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAT77613.1;

Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15367.1; Type=Erroneous initiation;

Note=Translation N-terminally extended; Sequence=BAB15367.1; Type=Miscellaneous discrepancy; Note=Contaminating

sequence. Potential poly-A sequence; Sequence=BAC87131.1; Type=Erroneous initiation; Note=Translation N-terminally

extended; Sequence=CAC28349.1; Type=Erroneous termination; Positions=385; Note=Translated as Arg; Sequence=CAD38601.2;

Type=Erroneous initiation; Note=Translation N-terminally extended;

3 PDB 3D structures from and Proteopedia for SETD2:

2A7O (3D)

4FMU (3D)

4H12 (3D)

Secondary accessions: O75397 O75405 Q17RW8 Q5BKS9 Q5QGN2 Q69YI5 Q6IN64 Q6ZN53 Q6ZS25 Q8N3R0 Q8TCN0

Q9C0D1 Q9H696 Q9NZW9

Alternative splicing: 3 isoforms: Q9BYW2-1 Q9BYW2-2 Q9BYW2-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SETD2: NX_Q9BYW2

Post-translational modifications:

May be automethylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BYW2

2 DME Specific Peptides for SETD2 (Q9BYW2)

RFMNHSC

NHSCEPN

SETD2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_054878.5

ENSEMBL proteins:

ENSP00000388349 ENSP00000332415 ENSP00000386759 ENSP00000411901 ENSP00000416401

Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SETD2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005694	chromosome	IEA	--

SETD2 for ontologies About GeneDecksing

SETD2 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of SETD2
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	GenScript Custom Superior Antibodies Services for SETD2
	Novus Biologicals SETD2 Antibodies
	Search for Antibodies for SETD2 at Abcam
	Uscn Antibodies for SETD2
	ThermoFisher Antibodies for SETD2

Assay Products for SETD2:

	Browse Kits and Assays available from EMD Millipore
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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SETD2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SETD2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SETD2 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR001214 SET_dom

IPR003616 Post-SET_dom

IPR013257 SRI

IPR001202 WW_Rsp5_WWP

IPR009078 Ferritin/RNR-like

Graphical View of Domain Structure for InterPro Entry Q9BYW2

ProtoNet protein and cluster: Q9BYW2

1 Blocks protein family: IPB001214 Nuclear protein SET

UniProtKB/Swiss-Prot: SETD2_HUMAN, Q9BYW2

Domain: The low charge region mediates the transcriptional activation activity

Similarity: Belongs to the histone-lysine methyltransferase family. SET2 subfamily

Similarity: Contains 1 AWS domain

Similarity: Contains 1 post-SET domain

Similarity: Contains 1 SET domain

Similarity: Contains 1 WW domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SETD2_HUMAN, Q9BYW2

Function: Histone methyltransferase that methylates 'Lys-36' of histone H3. H3 'Lys-36' methylation represents a

specific tag for epigenetic transcriptional activation. Probably plays a role in chromatin structure modulation during

elongation via its interaction with hyperphosphorylated POLR2A. Binds DNA at promoters. May also act as a

transcription activator that binds to promoters. Binds to the promoters of adenovirus 12 E1A gene in case of

infection, possibly leading to regulate its expression

Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +

N(6)-methyl-L-lysine-[histone]

Enzyme Number (IUBMB): EC 2.1.1.43¹ ²

miRNA Products:		OriGene 3'-UTR Clone: SETD2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SETD2
		8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate SETD2 (see all 29):
		hsa-miR-142-5p hsa-miR-548j hsa-miR-548i hsa-miR-520d-5p hsa-miR-374a hsa-miR-374c hsa-miR-7-1* hsa-miR-548d-5p

		SwitchGear 3'UTR luciferase reporter plasmid: SETD2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for SETD2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETD2

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0005515	protein binding	IPI	--
GO:0016491	oxidoreductase activity	IEA	--
GO:0018024	histone-lysine N-methyltransferase activity	IEA	--
GO:0046914	transition metal ion binding	IEA	--

SETD2 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for SETD2:

G0/1 arrest

Increased G1 DNA content

Increased cell size

Animal Models:
Mouse knock-out Setd2^tm1Zhch for SETD2
7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Setd2):

cardiovascular system	craniofacial	embryogenesis	growth/size	homeostasis/metabolism
mortality/aging	nervous system

SETD2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lysine degradation

Lysine degradation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Kegg Pathway (Kegg details for SETD2):

Lysine degradation

SETD2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SETD2

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/25 Interacting proteins for SETD2 (Q9BYW2^{1, 2, 3} ENSP00000386759⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 25)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H3A	P68431³, ENSP00000350275⁴	I2D: score=1 STRING: ENSP00000350275
HIST1H3B	P68431³	I2D: score=1
HIST1H3C	P68431³	I2D: score=1
HIST1H3D	P68431³	I2D: score=1
HIST1H3E	P68431³	I2D: score=1

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	IEA	--
GO:0001570	vasculogenesis	--	--
GO:0001763	morphogenesis of a branching structure	IEA	--
GO:0001843	neural tube closure	IEA	--
GO:0006351	transcription, DNA-dependent	IEA	--

SETD2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SETD2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SETD2

3 HMDB Compounds for SETD2 About this table

Compound	Synonyms	CAS #	PubMed Ids
L-Lysine	(+)-S-Lysine (see all 25)	56-87-1	--
S-Adenosylhomocysteine	(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)	979-92-0	--
S-Adenosylmethionine	(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)	29908-03-0	--

10/95 Novoseek chemical compound relationships for SETD2 gene (see all 95) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
vegf	87.7	443	12070140 (7), 18305118 (5), 16491827 (5), 19959878 (5) (see all 99)
cobalt chloride	81.8	17	19374849 (1), 19428442 (1), 10085152 (1), 16490744 (1) (see all 13)
oxygen	79.5	361	16144688 (4), 19007879 (4), 12678687 (3), 17942596 (3) (see all 99)
cocl2	72.2	11	9804609 (3), 17268062 (1), 18639543 (1), 16309584 (1) (see all 8)
deferoxamine	70.2	30	9115299 (3), 9804609 (3), 18061585 (2), 12015365 (2) (see all 15)
pimonidazole	65.9	2	19459851 (1), 17289019 (1)
echinomycin	64.5	8	17916190 (4), 16772336 (1), 19671732 (1), 19996311 (1)
ly294002	60.6	16	15631803 (2), 10749120 (1), 11457733 (1), 17576198 (1) (see all 9)
alpha-ketoglutarate	59.5	10	16223732 (1), 16847457 (1), 18252725 (1), 16883594 (1) (see all 9)
deguelin	59.4	2	18208562 (1)

Search CenterWatch for drugs/clinical trials and news about SETD2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SETD2 gene (2 alternative transcripts):

NM_014159.6 NM_012271.1

Unigene Cluster for SETD2:

SET domain containing 2

Hs.517941 [show with all ESTs]

Unigene Representative Sequence: NM_014159

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000431180(uc003cqr.3 uc003cqt.1) ENST00000330022 ENST00000409792(uc003cqs.3 uc003cqv.3)

ENST00000445387 ENST00000479832 ENST00000492397 ENST00000484689 ENST00000412450

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SETD2
		8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate SETD2 (see all 29):
		hsa-miR-142-5p hsa-miR-548j hsa-miR-548i hsa-miR-520d-5p hsa-miR-374a hsa-miR-374c hsa-miR-7-1* hsa-miR-548d-5p

		SwitchGear 3'UTR luciferase reporter plasmid: SETD2 3' UTR sequence

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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SETD2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SETD2 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Additional cDNA sequence:

AB051519.2 AF049103.1 AF049610.1 AF161554.1 AJ238403.1 AK026125.1 AK026837.1 AK091413.1

AK095494.1 AK127782.1 AK128096.1 AK131371.1 AL713692.1 AL833394.1 AY576987.1 BC072440.1

BC090954.1 BC117162.1 BC117164.1 BX649110.1

11 DOTS entries:

DT.447505 DT.100823976 DT.97763312 DT.100823973 DT.120912104 DT.92442690 DT.311074 DT.91792863

DT.102832745 DT.95112638 DT.99969069

24/356 AceView cDNA sequences (see all 356):

AI868890 BQ926736 AA830193 BQ709669 BQ778331 CB216995 BQ711493 BM806385

CD674569 AF049610 AA831489 BU528631 AA324058 BQ787154 BE220851 NM_014159

BQ926176 AA889864 CK000213 BQ232110 AK128096 BP380185 BU930240 BQ953177

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SETD2 (see all 9) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9a	·	9b	^	10	^	11a	·	11b	·	11c	·	11d	^	12	^	13	^	14	^	15	^	16	^	17	^	18a	·	18b	^
SP1:							-												-																				-		-		-
SP2:													-						-																				-		-		-				-
SP3:							-												-																				-		-		-				-
SP4:																																							-		-		-				-
SP5:																																							-		-						-

ExUns:	19a	·	19b	^	20	^	21a	·	21b	^	22	^	23	^	24	^	25
SP1:
SP2:
SP3:
SP4:	-		-
SP5:

ECgene alternative splicing isoforms for SETD2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SETD2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAATATTCC

About this image
See SETD2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SETD2

SOURCE GeneReport for Unigene cluster: Hs.517941

UniProtKB/Swiss-Prot: SETD2_HUMAN, Q9BYW2

Tissue specificity: Ubiquitously expressed

SABiosciences Expression via Pathway-Focused PCR Array including SETD2:

Epigenetic Chromatin Modification Enzymes in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SETD2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETD2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SETD2 gene from 8/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SETD2¹	SET domain containing 2	68.26(n) 68.1(a)		420404 XM_418510.3 XP_418510.3
lizard (Anolis carolinensis)	Reptilia	SETD2⁶	--	61(a)	1 ↔ 1	GL343918.1(60196-111632)
African clawed frog (Xenopus laevis)	Amphibia	Xl.26109²	Xenopus laevis transcribed sequence with weak similarity more	73.12(n)		CD326773.1
zebrafish (Danio rerio)	Actinopterygii	wufb97h09²	Transcribed sequence with weak similarity to protein more	77.69(n)		57076336
fruit fly (Drosophila melanogaster)	Insecta	ash1⁶ Set2⁶	Set2	8(a) 18(a)	possible ortholog 1 ↔ 1	3L(19583873-19591855) X(13307275-13315057)
worm (Caenorhabditis elegans)	Secernentea	met-1⁶ mes-4⁶ (see all 3)	Histone-lysine N-methyltransferase mes-4 (see all 3)	9(a) 8(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	I(4254381-4264684) V(13433040-13437533)
thale cress (Arabidopsis thaliana)	eudicotyledons	ASHH4⁶ ASHH3⁶ (see all 3)	histone-lysine N-methyltransferase ASHH3 (see all 3)	23(a) 23(a) (see all 3)	1 ↔ many 1 ↔ many (see all 3)	3(22148334-22150386) 2(18258610-18261442)
rice (Oryza sativa)	Liliopsida	-- --	SET domain containing protein, expressed	29(a) 22(a)	1 ↔ many 1 ↔ many	2(24044257-24047199) 9(8038176-8045950)

ENSEMBL Gene Tree for SETD2 (if available)
TreeFam Gene Tree for SETD2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SETD2 gene

NSD1² EZH1² WHSC1² SUV39H2² WHSC1L1² SETDB2² SUV39H1² EHMT1²

EHMT2² SETDB1² EZH2²

2 SIMAP similar genes for SETD2 using alignment to 5 protein entries: SETD2_HUMAN (see all proteins):

DKFZp686C08112 FP13812

SETD2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12107642^1,2	C,A,	--	47057477(+)	`CCCCCA/CAAAAA`	1	--	ds500¹		6		NA WA	130
rs75031483^1,2	F,	--	47057583(+)	`ATTTGC/ACTTTC`	1	--	ds500¹		1		WA	118
rs190803260^1,2		--	47057650(+)	`CTGCTG/TCTTTT`	1	--	ds500¹		0	--	--	--	--
rs183442934^1,2		--	47057974(+)	`AATTGC/GATAAA`	1	--	ut3¹		0	--	--	--	--
rs188621197^1,2		--	47058103(+)	`TTAAAC/TTGTCC`	1	--	ut3¹		0	--	--	--	--
rs192810791^1,2		--	47058395(+)	`ACAACC/TAGGTA`	1	--	ut3¹		0	--	--	--	--
rs199973330^1,2		--	47058690(+)	`CTCCAA/GGTCCT`	2	L	syn¹		0	--	--	--	--
rs112308602^1,2	F	--	47058797(+)	`AATTAC/TATGAG`	1	--	int¹		1		CSA	4
rs148499835^1,2	C,F	--	47059161(+)	`GTTGTG/AGTAAT`	2	/T	syn¹		2		NA EU	5873
rs202110651^1,2		--	47059253(+)	`GAACAC/TGTTGC`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SETD2 (47057898 - 47205467 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SETD2: --
Human Gene Mutation Database (HGMD): SETD2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SETD2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SETD2 for disorders           About GeneDecksing

OMIM gene information: 612778    OMIM disorders: --

20/100 diseases for SETD2 (see all 100):    About MalaCards

huntington's disease von hippel-lindau disease endolymphatic sac tumor renal clear cell carcinoma

coronary artery anomaly pre-eclampsia acute myocardial infarction clear cell renal cell carcinoma

proliferative diabetic retinopathy cerebral artery occlusion iron overload myocardial infarction

squamous cell carcinoma amyotrophic lateral sclerosis erythrocytosis diabetic retinopathy

oral squamous cell carcinoma lateral sclerosis malignant glioma carcinoma

10/96 Novoseek disease relationships for SETD2 gene (see all 96) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
solid tumor	70.3	27	19098000 (2), 12914934 (1), 15127725 (1), 19479945 (1) (see all 22)
tumors	69.5	485	16098463 (7), 17280792 (5), 15141023 (5), 11868612 (4) (see all 99)
cancer	66	247	16899626 (4), 15135470 (3), 15901372 (3), 19946328 (3) (see all 99)
renal clear cell carcinoma	55.1	4	16515534 (1), 15220362 (1), 16510593 (1), 17551816 (1)
neovascularization	53	11	19075673 (3), 20065104 (1), 10605934 (1), 18834862 (1) (see all 9)
retinal ischemia	47.5	2	15728570 (1), 11328942 (1)
metastasis	45.2	45	18635960 (2), 17933687 (2), 15930314 (1), 16861921 (1) (see all 42)
oxygen deficiency	44.2	2	16596228 (1), 19671044 (1)
retinal neovascularization	44.2	1	20008515 (1), 18704312 (1)
carcinoma renal cell	41.5	10	17482131 (2), 17989922 (1), 20185296 (1), 16778202 (1) (see all 9)

Human Genome Epidemiology (HuGE) Navigator: SETD2 (1 document)

Export disorders for SETD2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SETD2 gene, integrated from 9 sources (see all 930):
(articles sorted by number of sources associating them with SETD2)

Utopia: connect your pdf to the dynamic
world of online information

Identification and characterization of a novel human histone H3 lysine 36 specific methyltransferase. (PubMed id 16118227)^{1, 2, 3} Sun X.-J.... Chen Z. (2005)
Identification of the full-length huntingtin- interacting protein p231HBP/HYPB as a DNA-binding factor. (PubMed id 11461154)^{1, 2, 3} Rega S....Putzer B.M. (2001)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Solution structure of the Set2-Rpb1 interacting domain of human Set2 and its interaction with the hyperphosphorylated C-terminal domain of Rpb1. (PubMed id 16314571)^{1, 2} Li M.... Zhou P. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis. (PubMed id 10958656)^{1, 2} Passani L.A.... MacDonald M.E. (2000)
Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)^{1, 2} Nagase T.... Ohara O. (2000)
Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)^{1, 2} Zhang Q.-H.... Chen Z. (2000)
Huntingtin interacts with a family of WW domain proteins. (PubMed id 9700202)^{1, 2} Faber P.W....MacDonald M.E. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 29072	HGNC: 18420	AceView: HYPB	Ensembl:ENSG00000181555	euGenes: HUgn29072
ECgene: SETD2	Kegg: 29072	H-InvDB: SETD2

(According to HUGE)
About This Section

HUGE: KIAA1732

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SETD2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SETD2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SETD2 gene:
Search GeneIP for patents involving SETD2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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SETD2 Gene

SET domain containing 2

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SETD2 (Gene Symbol)
SET Domain Containing 2
HYPB
HIF-1
KMT3A
KIAA1732
SET2
Huntingtin Yeast Partner B
Huntingtin-Interacting Protein B
Lysine N-Methyltransferase 3A
HIP-1
P231HBP
EC 2.1.1.43
HBP231
FLJ23184
Histone-Lysine N-Methyltransferase SETD2
Huntingtin Interacting Protein 1
HIF1
HSET2
Huntingtin-Interacting Protein 1
SET Domain-Containing Protein 2

Hyperinsulinemia
Acute myocardial infarction
aggressiveness
COLON CARCINOMA
ADENOCARCINOMA LUNG
LUNG CARCINOMA
Oxygen Deficiency
Myocardial Ischemia
Atherosclerosis
Ischemia
Breast Cancer
Neovascularization
NSCLC
primary tumor
Edema
Hypoglycemia
Adenocarcinoma
cell damage
Cancer
Hypertension Pulmonary
Colorectal Carcinoma
somatic mutations
Lymphoma
Carcinoma Non-Small Cell Lung
Pathological Processes
cardiovascular cancer
Ovarian Cancer
Shock
Colorectal Cancer
Inflammation
HNSCC
iron deficiency
Choroidal Neovascularization
immunodeficiency
Cervical Cancer
Hypertrophy
Anemia
Rheumatoid Arthritis
prostate cancer
Tumors
Cardiovascular Diseases
Metastasis
Pheochromocytoma
Thrombosis
Carcinoma Ductal
Necrosis
Fibrosarcoma
Acidosis
Glioblastoma
breast cancer metastatic
Preeclampsia
Malignant Glioma
Huntington Disease
renal clear cell carcinoma
Glioblastoma Multiforme
Gastric Cancer
Neurodegenerative Diseases
Melanoma
Brain Tumors
BREAST CARCINOMA
Autoimmune Diseases
Colon Cancer
Hyperplasia
Glioma
Occlusion Middle Cerebral Artery
Astrocytoma
Carcinoma
INFARCT
retinopathy
Leukemia
PROSTATE CARCINOMA
Osteosarcoma
HEPATOCELLULAR CARCINOMA
CERVICAL CARCINOMA
Carcinoma Renal Cell
Intrauterine Growth Retardation
Pancreatic Cancer
Cancer Lung
chemically induced
aggressive behavior
Coronary Artery Disease
Heart Diseases
Adenoma
Bleeding
OVARIAN CARCINOMA
Erythrocytosis
solid tumor
Carcinoma Squamous Cell
Retinal ischemia
Lung diseases
associated conditions
STROKE
Retinal Neovascularization
Cerebral Ischemia
Vascular Diseases
Ear Diseases

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SETD2 Gene

SET domain containing 2

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