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Entry version 161 (07 Oct 2020)
Sequence version 2 (06 Dec 2005)
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Protein

Elongator complex protein 2

Gene

ELP2

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

Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244).1 Publication2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis

This protein is involved in the pathway 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis, which is part of tRNA modification.1 Publication
View all proteins of this organism that are known to be involved in the pathway 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis and in tRNA modification.

<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

Biological processTranscription, Transcription regulation, tRNA processing

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q6IA86

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3214847, HATs acetylate histones

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

More...
SignaLinki
Q6IA86

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00988

<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:
Elongator complex protein 2
Short name:
ELP2
Alternative name(s):
SHINC-2
STAT3-interacting protein 1
Short name:
StIP1
<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:ELP2
Synonyms:STATIP1
<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 18

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000134759.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18248, ELP2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616054, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6IA86

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, 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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mental retardation, autosomal recessive 58 (MRT58)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT58 transmission pattern is consistent with autosomal recessive inheritance.
Related information in OMIM
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_077989206H → R in MRT58; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773432002EnsemblClinVar.1
Natural variantiVAR_077990462R → W in MRT58; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767713084EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55250

MalaCards human disease database

More...
MalaCardsi
ELP2
MIMi617270, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000134759

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162385051

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6IA86, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ELP2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
83305834

<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_00000512411 – 826Elongator complex protein 2Add BLAST826

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6IA86

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6IA86

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6IA86

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6IA86

PeptideAtlas

More...
PeptideAtlasi
Q6IA86

PRoteomics IDEntifications database

More...
PRIDEi
Q6IA86

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
17271
19532
66359 [Q6IA86-1]
66360 [Q6IA86-2]
66361 [Q6IA86-3]
66362 [Q6IA86-4]
66363 [Q6IA86-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6IA86

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

More...
PhosphoSitePlusi
Q6IA86

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q6IA86

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000134759, Expressed in testis and 212 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6IA86, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6IA86, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000134759, 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 the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the RNA polymerase II elongator complex (Elongator), which consists of ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6 (PubMed:11714725, PubMed:11818576, PubMed:22854966). Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit (PubMed:11714725, PubMed:11818576, PubMed:22854966).

Interacts with STAT3 and JAKs (By similarity).

By similarity3 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
120541, 43 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-1949, Elongator holoenzyme complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q6IA86

Database of interacting proteins

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DIPi
DIP-56235N

Protein interaction database and analysis system

More...
IntActi
Q6IA86, 13 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000414851

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6IA86, protein

<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 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati13 – 53WD 1Add BLAST41
Repeati56 – 100WD 2Add BLAST45
Repeati105 – 152WD 3Add BLAST48
Repeati158 – 200WD 4Add BLAST43
Repeati205 – 246WD 5Add BLAST42
Repeati281 – 329WD 6Add BLAST49
Repeati339 – 378WD 7Add BLAST40
Repeati386 – 425WD 8Add BLAST40
Repeati436 – 474WD 9Add BLAST39
Repeati565 – 609WD 10Add BLAST45
Repeati612 – 651WD 11Add BLAST40
Repeati667 – 706WD 12Add BLAST40
Repeati712 – 753WD 13Add BLAST42
Repeati777 – 826WD 14Add BLAST50

<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 WD repeat ELP2 family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1063, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000916

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_006430_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6IA86

KEGG Orthology (KO)

More...
KOi
K11374

Identification of Orthologs from Complete Genome Data

More...
OMAi
QAHHLTV

Database of Orthologous Groups

More...
OrthoDBi
461632at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6IA86

TreeFam database of animal gene trees

More...
TreeFami
TF105985

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.130.10.10, 3 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR037289, Elp2
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR44111, PTHR44111, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00400, WD40, 5 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00320, WD40, 12 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50978, SSF50978, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50082, WD_REPEATS_2, 5 hits
PS50294, WD_REPEATS_REGION, 2 hits

<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 (7+)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 7 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6IA86-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV
60 70 80 90 100
VTNLNGHTAR VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA
110 120 130 140 150
VHLQGHEGPV YAVHAVYQRR TSDPALCTLI VSAAADSAVR LWSKKGPEVM
160 170 180 190 200
CLQTLNFGNG FALALCLSFL PNTDVPILAC GNDDCRIHIF AQQNDQFQKV
210 220 230 240 250
LSLCGHEDWI RGVEWAAFGR DLFLASCSQD CLIRIWKLYI KSTSLETQDD
260 270 280 290 300
DNIRLKENTF TIENESVKIA FAVTLETVLA GHENWVNAVH WQPVFYKDGV
310 320 330 340 350
LQQPVRLLSA SMDKTMILWA PDEESGVWLE QVRVGEVGGN TLGFYDCQFN
360 370 380 390 400
EDGSMIIAHA FHGALHLWKQ NTVNPREWTP EIVISGHFDG VQDLVWDPEG
410 420 430 440 450
EFIITVGTDQ TTRLFAPWKR KDQSQVTWHE IARPQIHGYD LKCLAMINRF
460 470 480 490 500
QFVSGADEKV LRVFSAPRNF VENFCAITGQ SLNHVLCNQD SDLPEGATVP
510 520 530 540 550
ALGLSNKAVF QGDIASQPSD EEELLTSTGF EYQQVAFQPS ILTEPPTEDH
560 570 580 590 600
LLQNTLWPEV QKLYGHGYEI FCVTCNSSKT LLASACKAAK KEHAAIILWN
610 620 630 640 650
TTSWKQVQNL VFHSLTVTQM AFSPNEKFLL AVSRDRTWSL WKKQDTISPE
660 670 680 690 700
FEPVFSLFAF TNKITSVHSR IIWSCDWSPD SKYFFTGSRD KKVVVWGECD
710 720 730 740 750
STDDCIEHNI GPCSSVLDVG GAVTAVSVCP VLHPSQRYVV AVGLECGKIC
760 770 780 790 800
LYTWKKTDQV PEINDWTHCV ETSQSQSHTL AIRKLCWKNC SGKTEQKEAE
810 820
GAEWLHFASC GEDHTVKIHR VNKCAL
Length:826
Mass (Da):92,500
Last modified:December 6, 2005 - 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:i949B417D4170B47B
GO
Isoform 2 (identifier: Q6IA86-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     149-174: Missing.
     332-375: Missing.

Show »
Length:756
Mass (Da):84,888
Checksum:iC9B6CC4C7CD62964
GO
Isoform 3 (identifier: Q6IA86-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     149-174: Missing.

Show »
Length:800
Mass (Da):89,715
Checksum:i6431208FC5B5AF7D
GO
Isoform 4 (identifier: Q6IA86-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     652-826: EPVFSLFAFT...KIHRVNKCAL → VELFGLVIGV...APQSWTWVGL

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:705
Mass (Da):78,576
Checksum:i6B1920C182C9097B
GO
Isoform 5 (identifier: Q6IA86-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     150-175: MCLQTLNFGNGFALALCLSFLPNTDV → TWKTGQVERG...SFLPSAFRPI
     332-375: Missing.

Show »
Length:821
Mass (Da):92,376
Checksum:i957180BEDAF50689
GO
Isoform 6 (identifier: Q6IA86-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     175-175: V → VTWKTGQVERGRAWKPPASLALCSRSCDSMVSCYASILCKALWKEKLHTFWHHNRISFLPSAFRPI

Show »
Length:891
Mass (Da):99,988
Checksum:i0BB79C8AA3766F60
GO
Isoform 7 (identifier: Q6IA86-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     149-218: Missing.

Show »
Length:756
Mass (Da):84,688
Checksum:i44E53C5158F5AF2E
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 are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GYE9F5GYE9_HUMAN
Elongator complex protein 2
ELP2
120Annotation 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>
K7ER35K7ER35_HUMAN
Elongator complex protein 2
ELP2
101Annotation 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>
F5GX79F5GX79_HUMAN
Elongator complex protein 2
ELP2
57Annotation score:

Annotation score:1 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>
H0YFW0H0YFW0_HUMAN
Elongator complex protein 2
ELP2
47Annotation score:

Annotation score:1 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>
F5GWY6F5GWY6_HUMAN
Elongator complex protein 2
ELP2
51Annotation score:

Annotation score:1 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 Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti66W → R in AAQ03093 (Ref. 2) Curated1
Sequence conflicti267V → F in CAG33550 (Ref. 4) Curated1
Sequence conflicti302Q → R in CAG33550 (Ref. 4) Curated1
Sequence conflicti376R → G in BAB14193 (PubMed:14702039).Curated1
Sequence conflicti412T → A in BAF85740 (PubMed:14702039).Curated1
Sequence conflicti590K → E in AAQ03093 (Ref. 2) Curated1
Sequence conflicti621A → T in BAG63452 (PubMed:14702039).Curated1
Sequence conflicti698E → V in AAK97355 (Ref. 1) Curated1
Sequence conflicti698E → V in BAB14193 (PubMed:14702039).Curated1
Sequence conflicti782I → V in BAF85740 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024072128T → P2 PublicationsCorresponds to variant dbSNP:rs1785934Ensembl.1
Natural variantiVAR_077989206H → R in MRT58; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773432002EnsemblClinVar.1
Natural variantiVAR_024073305V → M2 PublicationsCorresponds to variant dbSNP:rs1785928Ensembl.1
Natural variantiVAR_024074359H → R. Corresponds to variant dbSNP:rs16967474Ensembl.1
Natural variantiVAR_077990462R → W in MRT58; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767713084EnsemblClinVar.1
Natural variantiVAR_033804541I → T. Corresponds to variant dbSNP:rs28463092EnsemblClinVar.1
Natural variantiVAR_033805543T → P. Corresponds to variant dbSNP:rs17563617EnsemblClinVar.1
Natural variantiVAR_024075795E → G. Corresponds to variant dbSNP:rs12607773Ensembl.1
Natural variantiVAR_024076806H → P. Corresponds to variant dbSNP:rs1044128Ensembl.1
Natural variantiVAR_033806815T → P. Corresponds to variant dbSNP:rs1044134Ensembl.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_044978149 – 218Missing in isoform 7. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_016531149 – 174Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST26
Alternative sequenceiVSP_043410150 – 175MCLQT…PNTDV → TWKTGQVERGRAWKPPASLA LCSRSCDSMVSCYASILCKA LWKEKLHTFWHHNRISFLPS AFRPI in isoform 5. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_044979175V → VTWKTGQVERGRAWKPPASL ALCSRSCDSMVSCYASILCK ALWKEKLHTFWHHNRISFLP SAFRPI in isoform 6. 1 Publication1
Alternative sequenceiVSP_016532332 – 375Missing in isoform 2 and isoform 5. 2 PublicationsAdd BLAST44
Alternative sequenceiVSP_016533652 – 826EPVFS…NKCAL → VELFGLVIGVLTASISSLGV ETKRWLSGVSATPLMTVLST TLAPAPQSWTWVGL in isoform 4. 1 PublicationAdd BLAST175

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF332505 mRNA Translation: AAK97355.1
AF403223 mRNA Translation: AAQ03093.1
AK001741 mRNA Translation: BAA91874.1
AK022709 mRNA Translation: BAB14193.1
AK293051 mRNA Translation: BAF85740.1
AK300201 mRNA Translation: BAG61972.1
AK302062 mRNA Translation: BAG63452.1
CR457269 mRNA Translation: CAG33550.1
AK222791 mRNA Translation: BAD96511.1
AC023043 Genomic DNA No translation available.
AC091060 Genomic DNA No translation available.
BC009211 mRNA Translation: AAH09211.2
BC032553 mRNA Translation: AAH32553.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11918.1 [Q6IA86-1]
CCDS56065.1 [Q6IA86-6]
CCDS56066.1 [Q6IA86-5]
CCDS56067.1 [Q6IA86-3]
CCDS56068.1 [Q6IA86-2]
CCDS56069.1 [Q6IA86-7]

NCBI Reference Sequences

More...
RefSeqi
NP_001229804.1, NM_001242875.2 [Q6IA86-6]
NP_001229805.1, NM_001242876.2 [Q6IA86-5]
NP_001229806.1, NM_001242877.2 [Q6IA86-3]
NP_001229807.1, NM_001242878.2 [Q6IA86-2]
NP_001229808.1, NM_001242879.2 [Q6IA86-7]
NP_060725.1, NM_018255.3 [Q6IA86-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000350494; ENSP00000316051; ENSG00000134759 [Q6IA86-5]
ENST00000351393; ENSP00000257191; ENSG00000134759 [Q6IA86-3]
ENST00000358232; ENSP00000350967; ENSG00000134759 [Q6IA86-1]
ENST00000423854; ENSP00000391202; ENSG00000134759 [Q6IA86-7]
ENST00000442325; ENSP00000414851; ENSG00000134759 [Q6IA86-6]
ENST00000539560; ENSP00000443555; ENSG00000134759 [Q6IA86-4]
ENST00000542824; ENSP00000443800; ENSG00000134759 [Q6IA86-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55250

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55250

UCSC genome browser

More...
UCSCi
uc002kzk.4, human [Q6IA86-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AF332505 mRNA Translation: AAK97355.1
AF403223 mRNA Translation: AAQ03093.1
AK001741 mRNA Translation: BAA91874.1
AK022709 mRNA Translation: BAB14193.1
AK293051 mRNA Translation: BAF85740.1
AK300201 mRNA Translation: BAG61972.1
AK302062 mRNA Translation: BAG63452.1
CR457269 mRNA Translation: CAG33550.1
AK222791 mRNA Translation: BAD96511.1
AC023043 Genomic DNA No translation available.
AC091060 Genomic DNA No translation available.
BC009211 mRNA Translation: AAH09211.2
BC032553 mRNA Translation: AAH32553.1
CCDSiCCDS11918.1 [Q6IA86-1]
CCDS56065.1 [Q6IA86-6]
CCDS56066.1 [Q6IA86-5]
CCDS56067.1 [Q6IA86-3]
CCDS56068.1 [Q6IA86-2]
CCDS56069.1 [Q6IA86-7]
RefSeqiNP_001229804.1, NM_001242875.2 [Q6IA86-6]
NP_001229805.1, NM_001242876.2 [Q6IA86-5]
NP_001229806.1, NM_001242877.2 [Q6IA86-3]
NP_001229807.1, NM_001242878.2 [Q6IA86-2]
NP_001229808.1, NM_001242879.2 [Q6IA86-7]
NP_060725.1, NM_018255.3 [Q6IA86-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi120541, 43 interactors
ComplexPortaliCPX-1949, Elongator holoenzyme complex
CORUMiQ6IA86
DIPiDIP-56235N
IntActiQ6IA86, 13 interactors
STRINGi9606.ENSP00000414851

PTM databases

iPTMnetiQ6IA86
PhosphoSitePlusiQ6IA86
SwissPalmiQ6IA86

Polymorphism and mutation databases

BioMutaiELP2
DMDMi83305834

Proteomic databases

EPDiQ6IA86
jPOSTiQ6IA86
MassIVEiQ6IA86
MaxQBiQ6IA86
PeptideAtlasiQ6IA86
PRIDEiQ6IA86
ProteomicsDBi17271
19532
66359 [Q6IA86-1]
66360 [Q6IA86-2]
66361 [Q6IA86-3]
66362 [Q6IA86-4]
66363 [Q6IA86-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
657, 115 antibodies

Genome annotation databases

EnsembliENST00000350494; ENSP00000316051; ENSG00000134759 [Q6IA86-5]
ENST00000351393; ENSP00000257191; ENSG00000134759 [Q6IA86-3]
ENST00000358232; ENSP00000350967; ENSG00000134759 [Q6IA86-1]
ENST00000423854; ENSP00000391202; ENSG00000134759 [Q6IA86-7]
ENST00000442325; ENSP00000414851; ENSG00000134759 [Q6IA86-6]
ENST00000539560; ENSP00000443555; ENSG00000134759 [Q6IA86-4]
ENST00000542824; ENSP00000443800; ENSG00000134759 [Q6IA86-2]
GeneIDi55250
KEGGihsa:55250
UCSCiuc002kzk.4, human [Q6IA86-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55250
DisGeNETi55250
EuPathDBiHostDB:ENSG00000134759.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ELP2
HGNCiHGNC:18248, ELP2
HPAiENSG00000134759, Low tissue specificity
MalaCardsiELP2
MIMi616054, gene
617270, phenotype
neXtProtiNX_Q6IA86
OpenTargetsiENSG00000134759
PharmGKBiPA162385051

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1063, Eukaryota
GeneTreeiENSGT00390000000916
HOGENOMiCLU_006430_1_0_1
InParanoidiQ6IA86
KOiK11374
OMAiQAHHLTV
OrthoDBi461632at2759
PhylomeDBiQ6IA86
TreeFamiTF105985

Enzyme and pathway databases

UniPathwayiUPA00988
PathwayCommonsiQ6IA86
ReactomeiR-HSA-3214847, HATs acetylate histones
SignaLinkiQ6IA86

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
55250, 517 hits in 888 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ELP2, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ELP2

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

More...
GenomeRNAii
55250
PharosiQ6IA86, Tbio

Protein Ontology

More...
PROi
PR:Q6IA86
RNActiQ6IA86, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000134759, Expressed in testis and 212 other tissues
ExpressionAtlasiQ6IA86, baseline and differential
GenevisibleiQ6IA86, HS

Family and domain databases

Gene3Di2.130.10.10, 3 hits
InterProiView protein in InterPro
IPR037289, Elp2
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf
PANTHERiPTHR44111, PTHR44111, 1 hit
PfamiView protein in Pfam
PF00400, WD40, 5 hits
SMARTiView protein in SMART
SM00320, WD40, 12 hits
SUPFAMiSSF50978, SSF50978, 3 hits
PROSITEiView protein in PROSITE
PS50082, WD_REPEATS_2, 5 hits
PS50294, WD_REPEATS_REGION, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiELP2_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: Q6IA86
Secondary accession number(s): A8KAI6
, B4DTG0, B4DXP0, E7EP23, E9PCX0, Q53GZ0, Q687Y8, Q8N5C2, Q96GV4, Q96PI7, Q9H9N0, Q9NV81
<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: December 6, 2005
Last sequence update: December 6, 2005
Last modified: October 7, 2020
This is version 161 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

Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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