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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SETDB2 Gene

protein-coding GIFtS: 55
GCID: GC13P050018

SET domain, bifurcated 2

(Previous name: chromosome 13 open reading frame 4 )
(Previous symbol: C13orf4)

Explore 5 diseases affiliated with
SETDB2 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, Bifurcated 2¹ ²		Lysine N-Methyltransferase 1F² ³
CLLD8¹ ² ³ ⁵		Chromosome 13 Open Reading Frame 4¹
C13orf4¹ ² ³		Chronic Lymphocytic Leukemia Deletion Region 8²
KMT1F¹ ² ³		Histone-Lysine N-Methyltransferase SETDB2²
CLLL8¹ ²		EC 2.1.1.43³
Chronic Lymphocytic Leukemia Deletion Region Gene 8 Protein² ³		SET Domain Bifurcated 2³

External Ids:	HGNC: 20263¹	Entrez Gene: 83852²	Ensembl: ENSG00000136169⁷	OMIM: 607865⁵	UniProtKB: Q96T68³

Export aliases for SETDB2 gene to outside databases

Previous GC identifers: GC13P048954 GC13P047816 GC13P048916 GC13P030812

(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 SETDB2:

Proteins that contain a SET domain, such as SETDB2, modulate gene expression epigenetically through histone H3 (see MIM

601128) methylation. SETDB2 is likely a histone H3 methyltransferase, as it contains both the active site and flanking

cysteine residues required for catalytic activity (Zhang et al., 2003 (PubMed 12754510)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: SETB2_HUMAN, Q96T68

Function: Histone methyltransferase involved in left-right axis specification in early development and mitosis.

Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional

repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both

the interspersed repetitive elements and centromere-associated repeats. Plays a role in chromosome condensation and

segregation during mitosis

(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_000013.10 NC_018924.1 NT_024524.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SETDB2 gene promoter:
E2F-4 E2F-3a E2F-5 E2F-2 E2F E2F-1 POU2F1 POU2F1a Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SETDB2 promoter sequence

Search SABiosciences Chromatin IP Primers for SETDB2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SETDB2

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

Entrez Gene cytogenetic band: 13q14 Ensembl cytogenetic band: 13q14.2 HGNC cytogenetic band: 13q14

SETDB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SETDB2 gene location

GeneLoc information about chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13P050018: view genomic region (about GC identifiers)

Start:	50,018,429 bp from pter	End:	50,069,139 bp from pter
Size:	50,711 bases	Orientation:	plus 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: SETB2_HUMAN, Q96T68 (See protein sequence)

Recommended Name: Histone-lysine N-methyltransferase SETDB2

Size: 719 amino acids; 81894 Da

Subcellular location: Nucleus. Chromosome (Probable)

Sequence caution: Sequence=CAH56265.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A

sequence; Sequence=CAI10818.2; Type=Erroneous gene model prediction;

Secondary accessions: Q5TC65 Q5TC66 Q5W0A7 Q659A7 Q86UD6 Q96AI6

Alternative splicing: 3 isoforms: Q96T68-1 Q96T68-2 Q96T68-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SETDB2: NX_Q96T68

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96T68

SETDB2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001153780.1 NP_114121.2

ENSEMBL proteins:

ENSP00000326477 ENSP00000258672 ENSP00000346175

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: SETDB2 OriGene Custom Protein Services for SETDB2
	GenScript Custom Purified and Recombinant Proteins Services for SETDB2
	Novus Biologicals SETDB2 Proteins Novus Biologicals SETDB2 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SETDB2

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	IDA	--
GO:0005694	chromosome	IEA	--

SETDB2 for ontologies About GeneDecksing

SETDB2 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of SETDB2
	Browse R&D Systems for Antibodies
	OriGene Antibodies: SETDB2 OriGene Custom Antibody Services for SETDB2
	GenScript Custom Superior Antibodies Services for SETDB2
	Novus Biologicals SETDB2 Antibodies
	Search for Antibodies for SETDB2 at Abcam
	Uscn Antibodies for SETDB2
	ThermoFisher Antibodies for SETDB2

Assay Products for SETDB2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SETDB2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SETDB2

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

SETDB2 for domains About GeneDecksing

4 InterPro domains/families:

IPR001214 SET_dom

IPR016177 DNA-bd_integrase-typ

IPR007728 Pre-SET_dom

IPR001739 Methyl_CpG_DNA-bd

Graphical View of Domain Structure for InterPro Entry Q96T68

ProtoNet protein and cluster: Q96T68

1 Blocks protein family: IPB001214 Nuclear protein SET

UniProtKB/Swiss-Prot: SETB2_HUMAN, Q96T68

Similarity: Belongs to the histone-lysine methyltransferase family

Similarity: Contains 1 MBD (methyl-CpG-binding) domain

Similarity: Contains 1 pre-SET domain

Similarity: Contains 1 SET 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: SETB2_HUMAN, Q96T68

Function: Histone methyltransferase involved in left-right axis specification in early development and mitosis.

Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional

repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both

the interspersed repetitive elements and centromere-associated repeats. Plays a role in chromosome condensation and

segregation during mitosis

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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SETDB2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SETDB2
		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate SETDB2 (see all 20):
		hsa-miR-3938 hsa-miR-642a hsa-miR-300 hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-let-7a-2* hsa-miR-410

		SwitchGear 3'UTR luciferase reporter plasmid: SETDB2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SETDB2 (see all 4) OriGene shRNA RFP: SETDB2 OriGene siRNA: SETDB2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SETDB2

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SETDB2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SETDB2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SETDB2 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): SETDB2 (NM_031915)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SETDB2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SETDB2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SETDB2
		Search LifeMap BioReagents cell lines for SETDB2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETDB2

Gene Ontology (GO): 3 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:0008270	zinc ion binding	IEA	--
GO:0046974	histone methyltransferase activity (H3-K9 specific)	IDA	--

SETDB2 for ontologies 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 SETDB2):

Lysine degradation

SETDB2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SETDB2

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5 Interacting proteins for SETDB2 (Q96T68³ ENSP00000326477⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IGHG1	P01857³, ENSP00000374990⁴	I2D: score=1 STRING: ENSP00000374990
TAT	P17735³	I2D: score=1
PLOD1	ENSP00000196061⁴	STRING: ENSP00000196061
PLOD2	ENSP00000282903⁴	STRING: ENSP00000282903
PLOD3	ENSP00000223127⁴	STRING: ENSP00000223127

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001947	heart looping	ISS	--
GO:0007059	chromosome segregation	IMP	--
GO:0007067	mitosis	IMP	--
GO:0045892	negative regulation of transcription, DNA-dependent	ISS	--
GO:0051301	cell division	IEA	--

SETDB2 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SETDB2

2 HMDB Compounds for SETDB2 About this table

Compound	Synonyms	CAS #	PubMed Ids
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	--

Search CenterWatch for drugs/clinical trials and news about SETDB2 / SETB2

(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 SETDB2 gene (2 alternative transcripts):

NM_001160308.1 NM_031915.2

Unigene Cluster for SETDB2:

SET domain, bifurcated 2

Hs.631789 [show with all ESTs]

Unigene Representative Sequence: NM_031915

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

ENST00000317257 ENST00000481439 ENST00000258672(uc021rjn.1) ENST00000354234(uc010adg.2 uc010adh.2 uc001vcz.3 uc001vda.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SETDB2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SETDB2
		8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate SETDB2 (see all 20):
		hsa-miR-3938 hsa-miR-642a hsa-miR-300 hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-let-7a-2* hsa-miR-410

		SwitchGear 3'UTR luciferase reporter plasmid: SETDB2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SETDB2 (see all 4) OriGene shRNA RFP: SETDB2 OriGene siRNA: SETDB2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SETDB2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SETDB2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SETDB2 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): SETDB2 (NM_031915)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SETDB2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SETDB2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SETDB2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SETDB2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SETDB2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SETDB2

Additional cDNA sequence:

AF086317.1 AF277186.1 AF334407.1 AK307593.1 AK308220.1 AK308354.1 AK311602.1 AL831937.1

BC017078.1 BC028202.1 BC047434.2

14 DOTS entries:

DT.451703 DT.100754350 DT.100021760 DT.99941016 DT.107354 DT.100754352 DT.120771099 DT.112490

DT.40114015 DT.91682494 DT.91819713 DT.120771066 DT.92416347 DT.95368814

24/88 AceView cDNA sequences (see all 88):

AF086317 AI804313 AI697183 BX281643 AA252557 AA262434 CR608721 CR597159

BC017078 AA281080 BM272746 AI075941 AV709444 CA771828 AV709114 AA648818

NM_031915 AI374660 AA761971 AL833957 CK905119 AF334407 AA831594 BQ921221

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SETDB2 (see all 9) About this scheme

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

ExUns:	17a	·	17b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for SETDB2

(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

SETDB2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SETDB2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Epithalamus

Brain

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SETDB2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SETDB2

SOURCE GeneReport for Unigene cluster: Hs.631789

UniProtKB/Swiss-Prot: SETB2_HUMAN, Q96T68

Tissue specificity: Ubiquitous. Highest expression in heart, testis and ovary

SABiosciences Expression via Pathway-Focused PCR Array including SETDB2:

Epigenetic Chromatin Modification Enzymes in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SETDB2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SETDB2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SETDB2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SETDB2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETDB2

(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 SETDB2 gene from 7/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SETDB2¹	SET domain, bifurcated 2	59.79(n) 50(a)		418866 XM_417061.2 XP_417061.2
lizard (Anolis carolinensis)	Reptilia	SETDB2⁶	--	41(a)	1 ↔ 1	1(137440405-137458017)
African clawed frog (Xenopus laevis)	Amphibia	LOC398711²	putative histone methylatransferase CLLD8	77.52(n)		AY145835.1
zebrafish (Danio rerio)	Actinopterygii	CABZ01090029.1⁶	--	19(a)	1 ↔ 1	1(769342-772993)
worm (Caenorhabditis elegans)	Secernentea	met-2⁶	Probable histone-lysine N-methyltransferase met-2	11(a)	1 → many	III(8375226-8380777)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G23740⁶ SDG11⁶ (see all 11)	zinc binding motif and SET domain-containing prote... putative histone-lysine N-methyltransferase, H3 ly... (see all 11)	6(a) 16(a) (see all 11)	1 ↔ many possible ortholog (see all 11)	2(10097559-10103398) 2(2256970-2257908)
rice (Oryza sativa)	Liliopsida	-- -- (see all 15)	YDG/SRA domain containing protein, expressed (see all 15)	8(a) 7(a) (see all 15)	possible ortholog possible ortholog (see all 15)	9(11868806-11873416) 8(19082792-19086784)

ENSEMBL Gene Tree for SETDB2 (if available)
TreeFam Gene Tree for SETDB2 (if available)

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

Paralogs for SETDB2 gene

NSD1² EZH1² WHSC1² SUV39H2² WHSC1L1² SETD2² SUV39H1² EHMT1²

EHMT2² SETDB1² EZH2²

2 SIMAP similar genes for SETDB2 using alignment to 1 protein entry: SETB2_HUMAN:

DKFZp586I0123 FP13812

SETDB2 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 13 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs61959992^1,2	C,F,	--	50020280(+)	`ATATGG/CTATAA`	1	--	int¹		11		NA WA CSA EA	373
rs149785515^1,2	C,	--	50020355(+)	`CTTTT-/ACATTC`	1	--	int¹		0	--	--	--	--
rs139174000^1,2		--	50020372(+)	`AGAATA/TGGTAC`	1	--	int¹		0	--	--	--	--
rs149985152^1,2		--	50020402(+)	`ATCCAC/GATTTT`	1	--	int¹		0	--	--	--	--
rs145159387^1,2		--	50020416(+)	`CTTGAA/GTTTTT`	1	--	int¹		0	--	--	--	--
rs192170277^1,2	C,	--	50020546(+)	`TCCCTC/TACTCC`	1	--	int¹		1		EU	591
rs149170173^1,2		--	50020646(+)	`TATAGA/GTGAAT`	1	--	int¹		0	--	--	--	--
rs184484356^1,2		--	50020829(+)	`TTAATA/GTAAAA`	1	--	int¹		0	--	--	--	--
rs189358307^1,2		--	50020919(+)	`ATTCTC/TTGAGA`	1	--	int¹		0	--	--	--	--
rs192897174^1,2		--	50021010(+)	`TCTAGG/TATATA`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SETDB2 (50018429 - 50069139 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SETDB2
1 Indel: 41654
Human Gene Mutation Database (HGMD): SETDB2

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SETDB2 for disorders           About GeneDecksing

OMIM gene information: 607865    OMIM disorders: --

5 diseases for SETDB2:    About MalaCards

chronic lymphocytic leukemia lymphocytic leukemia leukemia homocysteine

asthma

Human Genome Epidemiology (HuGE) Navigator: SETDB2 (3 documents)

Export disorders for SETDB2 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)
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PubMed articles for SETDB2 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with SETDB2)

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Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel candidate genes for leukemogenesis at chromosome 13q14, a region commonly deleted in B-cell chronic lymphocytic leukemia. (PubMed id 11306461)^{1, 2, 3} Mabuchi H.... Croce C.M. (2001)
CLLD8/KMT1F is a lysine methyltransferase that is important for chromosome segregation. (PubMed id 20404330)^{1, 2} Falandry C.... Magdinier F. (2010)
The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)^{1, 2} Dunham A.... Ross M.T. (2004)
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)
Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma. (PubMed id 12754510)^{1, 2} Zhang Y.... Cookson W.O.C.M. (2003)
The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)¹ Aichem A....Groettrup M. (2012)
A multi-centre study of candidate genes for wheeze an d allergy: the International Study of Asthma and Allergies in Childhood Phase 2 . (PubMed id 20085599)¹ Genuneit J....Moffatt M.F. (2009)
Lysine methylation of HIV-1 Tat regulates transcriptional activity of the viral LTR. (PubMed id 18498648)¹ Van Duyne R....Kashanchi F. (2008)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 83852	HGNC: 20263	AceView: SETDB2	Ensembl:ENSG00000136169	euGenes: HUgn83852
ECgene: SETDB2	Kegg: 83852	H-InvDB: SETDB2

(According to HUGE)
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(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 SETDB2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SETDB2 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 SETDB2 gene:
Search GeneIP for patents involving SETDB2

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

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SET domain, bifurcated 2

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SETDB2 Gene

SET domain, bifurcated 2

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