ELL2

Functionⁱ

Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968). Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane-specific to secretory IgH mRNA expression.4 Publications

GO - Biological processⁱ

regulation of transcription, DNA-templated Source: UniProtKB-KW
snRNA transcription by RNA polymerase II
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 22195968
transcription elongation from RNA polymerase II promoter
Source: ProtInc
Traceable author statementⁱ
- 9108030

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Transcription, Transcription regulation

Biological process

Transcription, Transcription regulation

Enzyme and pathway databases

Reactomeⁱ	R-HSA-6807505 RNA polymerase II transcribes snRNA genes

Reactomeⁱ

R-HSA-6807505 RNA polymerase II transcribes snRNA genes

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: RNA polymerase II elongation factor ELL2
Gene namesⁱ	Name:ELL2
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 5

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000118985.15
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:17064 ELL2
MIMⁱ	601874 gene
neXtProtⁱ	NX_O00472

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	22936
Open Targets More...OpenTargetsⁱ	ENSG00000118985
PharmGKBⁱ	PA134935340

Polymorphism and mutation databases

BioMutaⁱ	ELL2

BioMutaⁱ

ELL2

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000146735	1 – 640	RNA polymerase II elongation factor ELL2Add BLAST		640

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	503	PhosphoserineCombined sources		1
Modified residueⁱ	580	PhosphoserineCombined sources		1

Post-translational modificationⁱ

Ubiquitinated by SIAH1, leading to its degradation by the proteaseome. Interaction with AFF4 stabilizeS ELL2 and prevent ELL2 ubiquitination.1 Publication

Keywords - PTMⁱ

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDⁱ	O00472
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O00472
PaxDbⁱ	O00472
PeptideAtlas More...PeptideAtlasⁱ	O00472
PRIDEⁱ	O00472
ProteomicsDBⁱ	47920

PTM databases

iPTMnetⁱ	O00472
PhosphoSitePlusⁱ	O00472

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000118985
CleanExⁱ	HS_ELL2
ExpressionAtlasⁱ	O00472 baseline and differential
Genevisibleⁱ	O00472 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA013569

HPAⁱ

HPA013569

Interactionⁱ

Subunit structureⁱ

Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2. Interacts with AFF4; the interaction is direct and leads to stabilize ELL2 and prevent ELL2 ubiquitination. Interacts with EAF1 and EAF2.5 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
EAF1	Q96JC9	4	EBI-395274,EBI-769261

With

Entry

#Exp.

IntAct

Notes

EAF1

Q96JC9

4

EBI-395274,EBI-769261

Protein-protein interaction databases

BioGridⁱ	116595, 28 interactors
CORUMⁱ	O00472
IntActⁱ	O00472, 30 interactors
STRINGⁱ	9606.ENSP00000237853

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Show more details

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	206 – 216	Combined sources	11
Helixⁱ	221 – 231	Combined sources	11
Helixⁱ	235 – 248	Combined sources	14
Beta strandⁱ	249 – 252	Combined sources	4
Turnⁱ	253 – 256	Combined sources	4
Beta strandⁱ	257 – 260	Combined sources	4
Helixⁱ	264 – 267	Combined sources	4
Helixⁱ	279 – 290	Combined sources	12
Helixⁱ	527 – 531	Combined sources	5
Helixⁱ	538 – 578	Combined sources	41
Helixⁱ	584 – 602	Combined sources	19
Helixⁱ	607 – 636	Combined sources	30

3D structure databases

ProteinModelPortalⁱ	O00472
SMRⁱ	O00472
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	O00472

EvolutionaryTraceⁱ

O00472

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the ELL/occludin family.Curated

Phylogenomic databases

eggNOGⁱ	KOG4796 Eukaryota ENOG410ZNGU LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00550000074378
HOGENOMⁱ	HOG000112356
HOVERGENⁱ	HBG005578
InParanoidⁱ	O00472
KEGG Orthology (KO) More...KOⁱ	K15183
OMAⁱ	TIRKTHS
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G043D
PhylomeDBⁱ	O00472
TreeFamⁱ	TF326161

Family and domain databases

InterProⁱ	View protein in InterPro IPR031176 ELL/occludin IPR031179 ELL2 IPR019464 ELL_N IPR010844 Occludin_ELL IPR036390 WH_DNA-bd_sf
PANTHERⁱ	PTHR23288 PTHR23288, 1 hit PTHR23288:SF8 PTHR23288:SF8, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF10390 ELL, 1 hit PF07303 Occludin_ELL, 1 hit
SUPFAMⁱ	SSF46785 SSF46785, 1 hit

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform 1 (identifier: O00472-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' 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
MAAGGTGGLR EEQRYGLSCG RLGQDNITVL HVKLTETAIR ALETYQSHKN 
        60         70         80         90        100
LIPFRPSIQF QGLHGLVKIP KNDPLNEVHN FNFYLSNVGK DNPQGSFDCI 
       110        120        130        140        150
QQTFSSSGAS QLNCLGFIQD KITVCATNDS YQMTRERMTQ AEEESRNRST 
       160        170        180        190        200
KVIKPGGPYV GKRVQIRKAP QAVSDTVPER KRSTPMNPAN TIRKTHSSST 
       210        220        230        240        250
ISQRPYRDRV IHLLALKAYK KPELLARLQK DGVNQKDKNS LGAILQQVAN 
       260        270        280        290        300
LNSKDLSYTL KDYVFKELQR DWPGYSEIDR RSLESVLSRK LNPSQNAAGT 
       310        320        330        340        350
SRSESPVCSS RDAVSSPQKR LLDSEFIDPL MNKKARISHL TNRVPPTLNG 
       360        370        380        390        400
HLNPTSEKSA AGLPLPPAAA AIPTPPPLPS TYLPISHPPQ IVNSNSNSPS 
       410        420        430        440        450
TPEGRGTQDL PVDSFSQNDS IYEDQQDKYT SRTSLETLPP GSVLLKCPKP 
       460        470        480        490        500
MEENHSMSHK KSKKKSKKHK EKDQIKKHDI ETIEEKEEDL KREEEIAKLN 
       510        520        530        540        550
NSSPNSSGGV KEDCTASMEP SAIELPDYLI KYIAIVSYEQ RQNYKDDFNA 
       560        570        580        590        600
EYDEYRALHA RMETVARRFI KLDAQRKRLS PGSKEYQNVH EEVLQEYQKI 
       610        620        630        640
KQSSPNYHEE KYRCEYLHNK LAHIKRLIGE FDQQQAESWS

Length:640

Mass (Da):72,324

Last modified:July 28, 2009 - v2

Checksum:ⁱ96D6228AF868E6C9

GO

Isoform 2 (identifier: O00472-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
140-389: Missing.

« Hide

        10         20         30         40         50
MAAGGTGGLR EEQRYGLSCG RLGQDNITVL HVKLTETAIR ALETYQSHKN 
        60         70         80         90        100
LIPFRPSIQF QGLHGLVKIP KNDPLNEVHN FNFYLSNVGK DNPQGSFDCI 
       110        120        130        140        150
QQTFSSSGAS QLNCLGFIQD KITVCATNDS YQMTRERMTQ IVNSNSNSPS 
       160        170        180        190        200
TPEGRGTQDL PVDSFSQNDS IYEDQQDKYT SRTSLETLPP GSVLLKCPKP 
       210        220        230        240        250
MEENHSMSHK KSKKKSKKHK EKDQIKKHDI ETIEEKEEDL KREEEIAKLN 
       260        270        280        290        300
NSSPNSSGGV KEDCTASMEP SAIELPDYLI KYIAIVSYEQ RQNYKDDFNA 
       310        320        330        340        350
EYDEYRALHA RMETVARRFI KLDAQRKRLS PGSKEYQNVH EEVLQEYQKI 
       360        370        380        390
KQSSPNYHEE KYRCEYLHNK LAHIKRLIGE FDQQQAESWS

Note: No experimental confirmation available.

Show »

Length:390

Mass (Da):44,696

Checksum:ⁱC06A6FE25C02C6F5

GO

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_058406	298	A → T2 PublicationsCorresponds to variant dbSNP:rs3815768Ensembl.		1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_055476	140 – 389	Missing in isoform 2. 1 PublicationAdd BLAST		250

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U88629 Genomic DNA Translation: AAC51232.1 AK297956 mRNA Translation: BAG60269.1 AC008592 Genomic DNA No translation available. BC028412 mRNA Translation: AAH28412.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS4080.1 [O00472-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_036213.2, NM_012081.5 [O00472-1]
UniGeneⁱ	Hs.192221 Hs.708710

Genome annotation databases

Ensemblⁱ	ENST00000237853; ENSP00000237853; ENSG00000118985 [O00472-1]
GeneIDⁱ	22936
KEGGⁱ	hsa:22936
UCSC genome browser More...UCSCⁱ	uc003klr.4 human [O00472-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length
O00472	Elongation factor, RNA polymerase II, 2 variant (Fragment)		HUMAN		519
UPI00024CFB38		HUMAN		508
UPI0007DC7C42		HUMAN		455

Protein	Similar proteins		Species	Score	Length
O00472	Elongation factor, RNA polymerase II, 2 variant (Fragment)		HUMAN		519
RNA polymerase II elongation factor ELL2		MYOBR		750
ELL2 isoform 5		PANTR		646
UPI000A1B9702		Odocoileus virginianus texanus		643
UPI000847CF9C		CAPHI		643
+87

Protein	Similar proteins		Species	Score	Length
O00472	Elongation factor, RNA polymerase II, 2 variant (Fragment)		HUMAN		519
RNA polymerase II elongation factor ELL2		MYOBR		750
ELL2 isoform 5		PANTR		646
UPI000A1B9702		Odocoileus virginianus texanus		643
UPI000847CF9C		CAPHI		643
+131
O00472-2	Uncharacterized protein		MACNE		327
Uncharacterized protein		MACFA		327
Uncharacterized protein		SAIBB		310
Uncharacterized protein		NOMLE		304
RNA polymerase II elongation factor ELL2		HETGA		375
+4

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	U88629 Genomic DNA Translation: AAC51232.1 AK297956 mRNA Translation: BAG60269.1 AC008592 Genomic DNA No translation available. BC028412 mRNA Translation: AAH28412.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS4080.1 [O00472-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_036213.2, NM_012081.5 [O00472-1]
UniGeneⁱ	Hs.192221 Hs.708710

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2E5N	NMR	-	A	200-292	[»]
	5JW9	X-ray	2.00	B	519-640	[»]
ProteinModelPortalⁱ	O00472
SMRⁱ	O00472
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	116595, 28 interactors
CORUMⁱ	O00472
IntActⁱ	O00472, 30 interactors
STRINGⁱ	9606.ENSP00000237853

PTM databases

iPTMnetⁱ	O00472
PhosphoSitePlusⁱ	O00472

Polymorphism and mutation databases

BioMutaⁱ	ELL2

BioMutaⁱ

ELL2

Proteomic databases

EPDⁱ	O00472
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O00472
PaxDbⁱ	O00472
PeptideAtlas More...PeptideAtlasⁱ	O00472
PRIDEⁱ	O00472
ProteomicsDBⁱ	47920

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	22936
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000237853; ENSP00000237853; ENSG00000118985 [O00472-1]
GeneIDⁱ	22936
KEGGⁱ	hsa:22936
UCSC genome browser More...UCSCⁱ	uc003klr.4 human [O00472-1]

Organism-specific databases

CTDⁱ	22936
DisGeNET More...DisGeNETⁱ	22936
EuPathDBⁱ	HostDB:ENSG00000118985.15
GeneCardsⁱ	ELL2
H-InvDBⁱ	HIX0005049
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:17064 ELL2
Human Protein Atlas More...HPAⁱ	HPA013569
MIMⁱ	601874 gene
neXtProtⁱ	NX_O00472
Open Targets More...OpenTargetsⁱ	ENSG00000118985
PharmGKBⁱ	PA134935340
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG4796 Eukaryota ENOG410ZNGU LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00550000074378
HOGENOMⁱ	HOG000112356
HOVERGENⁱ	HBG005578
InParanoidⁱ	O00472
KEGG Orthology (KO) More...KOⁱ	K15183
OMAⁱ	TIRKTHS
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G043D
PhylomeDBⁱ	O00472
TreeFamⁱ	TF326161

Enzyme and pathway databases

Reactomeⁱ	R-HSA-6807505 RNA polymerase II transcribes snRNA genes

Reactomeⁱ

R-HSA-6807505 RNA polymerase II transcribes snRNA genes

Miscellaneous databases

ChiTaRSⁱ	ELL2 human
EvolutionaryTraceⁱ	O00472
GenomeRNAiⁱ	22936
Protein Ontology More...PROⁱ	PR:O00472
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000118985
CleanExⁱ	HS_ELL2
ExpressionAtlasⁱ	O00472 baseline and differential
Genevisibleⁱ	O00472 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR031176 ELL/occludin IPR031179 ELL2 IPR019464 ELL_N IPR010844 Occludin_ELL IPR036390 WH_DNA-bd_sf
PANTHERⁱ	PTHR23288 PTHR23288, 1 hit PTHR23288:SF8 PTHR23288:SF8, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF10390 ELL, 1 hit PF07303 Occludin_ELL, 1 hit
SUPFAMⁱ	SSF46785 SSF46785, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	ELL2_HUMAN
Accessionⁱ	O00472Primary (citable) accession number: O00472 Secondary accession number(s): B4DNK7
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
	Last sequence update:	July 28, 2009
	Last modified:	July 18, 2018
	This is version 143 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families

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UniProtKB - O00472 (ELL2_HUMAN)

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RNA polymerase II elongation factor ELL2

Select a section on the left to see content.

<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

<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 - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

Nucleus

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

Polymorphism and mutation databases

<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

Amino acid modifications

Proteomic databases

PTM databases

<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

Organism-specific databases

<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

Protein-protein interaction databases

<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

3D structure databases

Miscellaneous databases

<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

<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

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Family and domain databases

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ