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Entry version 168 (25 May 2022)
Sequence version 2 (03 Apr 2007)
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Protein

Histone-lysine N-methyltransferase SETDB2

Gene

SETDB2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.

1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi293Zinc 1By similarity1
Metal bindingi293Zinc 2By similarity1
Metal bindingi295Zinc 1By similarity1
Metal bindingi299Zinc 1By similarity1
Metal bindingi299Zinc 3By similarity1
Metal bindingi305Zinc 1By similarity1
Metal bindingi307Zinc 2By similarity1
Metal bindingi345Zinc 2By similarity1
Metal bindingi345Zinc 3By similarity1
Metal bindingi349Zinc 2By similarity1
Metal bindingi351Zinc 3By similarity1
Metal bindingi356Zinc 3By similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei418S-adenosyl-L-methioninePROSITE-ProRule annotation1
Binding sitei648S-adenosyl-L-methioninePROSITE-ProRule annotation1
Metal bindingi654Zinc 4By similarity1
Metal bindingi707Zinc 4By similarity1
Metal bindingi709Zinc 4By similarity1
Metal bindingi714Zinc 4By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChromatin regulator, Developmental protein, Methyltransferase, Transferase
Biological processCell cycle, Cell division, Mitosis
LigandMetal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q96T68

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3214841, PKMTs methylate histone lysines

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q96T68

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q96T68

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Histone-lysine N-methyltransferase SETDB2 (EC:2.1.1.3661 Publication)
Alternative name(s):
Chronic lymphocytic leukemia deletion region gene 8 protein
Lysine N-methyltransferase 1F
SET domain bifurcated 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SETDB2
Synonyms:C13orf4, CLLD8, KMT1F
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20263, SETDB2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607865, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96T68

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000136169

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Chromosome, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
83852

Open Targets

More...
OpenTargetsi
ENSG00000136169

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134956285

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96T68, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SETDB2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
143811459

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001860881 – 719Histone-lysine N-methyltransferase SETDB2Add BLAST719

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96T68

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96T68

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96T68

PeptideAtlas

More...
PeptideAtlasi
Q96T68

PRoteomics IDEntifications database

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PRIDEi
Q96T68

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
78203 [Q96T68-1]
78204 [Q96T68-2]
78205 [Q96T68-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96T68

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q96T68

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Highest expression in heart, testis and ovary.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000136169, Expressed in sperm and 211 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96T68, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96T68, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000136169, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
123768, 15 interactors

Protein interaction database and analysis system

More...
IntActi
Q96T68, 12 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000346175

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96T68, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1719
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...
AlphaFoldDBi
Q96T68

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q96T68

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini157 – 229MBDPROSITE-ProRule annotationAdd BLAST73
Domaini291 – 364Pre-SETPROSITE-ProRule annotationAdd BLAST74
Domaini367 – 694SETPROSITE-ProRule annotationAdd BLAST328

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni72 – 102DisorderedSequence analysisAdd BLAST31
Regioni377 – 379S-adenosyl-L-methionine bindingBy similarity3
Regioni508 – 547DisorderedSequence analysisAdd BLAST40
Regioni651 – 652S-adenosyl-L-methionine bindingBy similarity2

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi519 – 547Basic and acidic residuesSequence analysisAdd BLAST29

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

In the pre-SET domain, Cys residues bind 3 zinc ions that are arranged in a triangular cluster; some of these Cys residues contribute to the binding of two zinc ions within the cluster.By similarity

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the class V-like SAM-binding methyltransferase superfamily.PROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1141, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158209

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_003279_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96T68

Identification of Orthologs from Complete Genome Data

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OMAi
NQQVFCD

Database of Orthologous Groups

More...
OrthoDBi
183716at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96T68

TreeFam database of animal gene trees

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TreeFami
TF106411

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.170.270.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016177, DNA-bd_dom_sf
IPR001739, Methyl_CpG_DNA-bd
IPR007728, Pre-SET_dom
IPR001214, SET_dom
IPR046341, SET_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01429, MBD, 1 hit
PF05033, Pre-SET, 1 hit
PF00856, SET, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00391, MBD, 1 hit
SM00468, PreSET, 1 hit
SM00317, SET, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54171, SSF54171, 1 hit
SSF82199, SSF82199, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50982, MBD, 1 hit
PS50867, PRE_SET, 1 hit
PS50280, SET, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96T68-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGEKNGDAKT FWMELEDDGK VDFIFEQVQN VLQSLKQKIK DGSATNKEYI
60 70 80 90 100
QAMILVNEAT IINSSTSIKG ASQKEVNAQS SDPMPVTQKE QENKSNAFPS
110 120 130 140 150
TSCENSFPED CTFLTTENKE ILSLEDKVVD FREKDSSSNL SYQSHDCSGA
160 170 180 190 200
CLMKMPLNLK GENPLQLPIK CHFQRRHAKT NSHSSALHVS YKTPCGRSLR
210 220 230 240 250
NVEEVFRYLL ETECNFLFTD NFSFNTYVQL ARNYPKQKEV VSDVDISNGV
260 270 280 290 300
ESVPISFCNE IDSRKLPQFK YRKTVWPRAY NLTNFSSMFT DSCDCSEGCI
310 320 330 340 350
DITKCACLQL TARNAKTSPL SSDKITTGYK YKRLQRQIPT GIYECSLLCK
360 370 380 390 400
CNRQLCQNRV VQHGPQVRLQ VFKTEQKGWG VRCLDDIDRG TFVCIYSGRL
410 420 430 440 450
LSRANTEKSY GIDENGRDEN TMKNIFSKKR KLEVACSDCE VEVLPLGLET
460 470 480 490 500
HPRTAKTEKC PPKFSNNPKE LTVETKYDNI SRIQYHSVIR DPESKTAIFQ
510 520 530 540 550
HNGKKMEFVS SESVTPEDND GFKPPREHLN SKTKGAQKDS SSNHVDEFED
560 570 580 590 600
NLLIESDVID ITKYREETPP RSRCNQATTL DNQNIKKAIE VQIQKPQEGR
610 620 630 640 650
STACQRQQVF CDEELLSETK NTSSDSLTKF NKGNVFLLDA TKEGNVGRFL
660 670 680 690 700
NHSCCPNLLV QNVFVETHNR NFPLVAFFTN RYVKARTELT WDYGYEAGTV
710
PEKEIFCQCG VNKCRKKIL
Length:719
Mass (Da):81,894
Last modified:April 3, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i01CD2CFE5C1D9067
GO
Isoform 2 (identifier: Q96T68-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     70-81: Missing.

Show »
Length:707
Mass (Da):80,707
Checksum:i631679B2687F6FBD
GO
Isoform 3 (identifier: Q96T68-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     523-523: Missing.

Show »
Length:718
Mass (Da):81,766
Checksum:iFCBD4B8D5A1A3506
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WYZ9A0A087WYZ9_HUMAN
Histone-lysine N-methyltransferase ...
SETDB2
719Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAH56265 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031282117E → G2 PublicationsCorresponds to variant dbSNP:rs7998427Ensembl.1
Natural variantiVAR_016976473V → M3 PublicationsCorresponds to variant dbSNP:rs2057413Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00841370 – 81Missing in isoform 2. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_024034523Missing in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF334407 mRNA Translation: AAK38373.1
AL136218 Genomic DNA No translation available.
AL139321 Genomic DNA No translation available.
BC017078 mRNA Translation: AAH17078.1
BC047434 mRNA Translation: AAH47434.1
AL831937 mRNA Translation: CAH56265.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS53868.1 [Q96T68-2]
CCDS9417.1 [Q96T68-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001153780.1, NM_001160308.2 [Q96T68-2]
NP_114121.2, NM_031915.2 [Q96T68-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000317257.12; ENSP00000326477.9; ENSG00000136169.17 [Q96T68-2]
ENST00000354234.8; ENSP00000346175.5; ENSG00000136169.17
ENST00000611815.2; ENSP00000482240.2; ENSG00000136169.17 [Q96T68-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
83852

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:83852

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

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MANE-Selecti
ENST00000611815.2; ENSP00000482240.2; NM_001160308.3; NP_001153780.1 [Q96T68-2]

UCSC genome browser

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UCSCi
uc001vcz.4, human [Q96T68-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF334407 mRNA Translation: AAK38373.1
AL136218 Genomic DNA No translation available.
AL139321 Genomic DNA No translation available.
BC017078 mRNA Translation: AAH17078.1
BC047434 mRNA Translation: AAH47434.1
AL831937 mRNA Translation: CAH56265.1 Sequence problems.
CCDSiCCDS53868.1 [Q96T68-2]
CCDS9417.1 [Q96T68-1]
RefSeqiNP_001153780.1, NM_001160308.2 [Q96T68-2]
NP_114121.2, NM_031915.2 [Q96T68-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5TFPX-ray2.00A/B1-64[»]
AlphaFoldDBiQ96T68
SMRiQ96T68
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi123768, 15 interactors
IntActiQ96T68, 12 interactors
STRINGi9606.ENSP00000346175

PTM databases

iPTMnetiQ96T68
PhosphoSitePlusiQ96T68

Genetic variation databases

BioMutaiSETDB2
DMDMi143811459

Proteomic databases

jPOSTiQ96T68
MassIVEiQ96T68
PaxDbiQ96T68
PeptideAtlasiQ96T68
PRIDEiQ96T68
ProteomicsDBi78203 [Q96T68-1]
78204 [Q96T68-2]
78205 [Q96T68-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
23922, 233 antibodies from 36 providers

The DNASU plasmid repository

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DNASUi
83852

Genome annotation databases

EnsembliENST00000317257.12; ENSP00000326477.9; ENSG00000136169.17 [Q96T68-2]
ENST00000354234.8; ENSP00000346175.5; ENSG00000136169.17
ENST00000611815.2; ENSP00000482240.2; ENSG00000136169.17 [Q96T68-2]
GeneIDi83852
KEGGihsa:83852
MANE-SelectiENST00000611815.2; ENSP00000482240.2; NM_001160308.3; NP_001153780.1 [Q96T68-2]
UCSCiuc001vcz.4, human [Q96T68-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
83852
DisGeNETi83852

GeneCards: human genes, protein and diseases

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GeneCardsi
SETDB2
HGNCiHGNC:20263, SETDB2
HPAiENSG00000136169, Low tissue specificity
MIMi607865, gene
neXtProtiNX_Q96T68
OpenTargetsiENSG00000136169
PharmGKBiPA134956285
VEuPathDBiHostDB:ENSG00000136169

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1141, Eukaryota
GeneTreeiENSGT00940000158209
HOGENOMiCLU_003279_2_0_1
InParanoidiQ96T68
OMAiNQQVFCD
OrthoDBi183716at2759
PhylomeDBiQ96T68
TreeFamiTF106411

Enzyme and pathway databases

PathwayCommonsiQ96T68
ReactomeiR-HSA-3214841, PKMTs methylate histone lysines
SignaLinkiQ96T68
SIGNORiQ96T68

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
83852, 22 hits in 1117 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
83852
PharosiQ96T68, Tbio

Protein Ontology

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PROi
PR:Q96T68
RNActiQ96T68, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000136169, Expressed in sperm and 211 other tissues
ExpressionAtlasiQ96T68, baseline and differential
GenevisibleiQ96T68, HS

Family and domain databases

Gene3Di2.170.270.10, 2 hits
InterProiView protein in InterPro
IPR016177, DNA-bd_dom_sf
IPR001739, Methyl_CpG_DNA-bd
IPR007728, Pre-SET_dom
IPR001214, SET_dom
IPR046341, SET_dom_sf
PfamiView protein in Pfam
PF01429, MBD, 1 hit
PF05033, Pre-SET, 1 hit
PF00856, SET, 1 hit
SMARTiView protein in SMART
SM00391, MBD, 1 hit
SM00468, PreSET, 1 hit
SM00317, SET, 1 hit
SUPFAMiSSF54171, SSF54171, 1 hit
SSF82199, SSF82199, 1 hit
PROSITEiView protein in PROSITE
PS50982, MBD, 1 hit
PS50867, PRE_SET, 1 hit
PS50280, SET, 1 hit

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSETB2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96T68
Secondary accession number(s): Q5TC65
, Q5TC66, Q5W0A7, Q659A7, Q86UD6, Q96AI6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: April 3, 2007
Last modified: May 25, 2022
This is version 168 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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