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The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016] See more...
Aliases for ELP2 Gene
Aliases for ELP2 Gene
External Ids for ELP2 Gene
- HGNC: 18248
- Entrez Gene: 55250
- Ensembl: ENSG00000134759
- OMIM: 616054
- UniProtKB: Q6IA86
Previous HGNC Symbols for ELP2 Gene
- STATIP1
Previous GeneCards Identifiers for ELP2 Gene
- GC18P033739
- GC18P031964
- GC18P030568
- GC18P033709
Summaries for ELP2 Gene
-
The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]
GeneCards Summary for ELP2 Gene
ELP2 (Elongator Acetyltransferase Complex Subunit 2) is a Protein Coding gene. Diseases associated with ELP2 include Mental Retardation, Autosomal Recessive 58 and Autosomal Recessive Intellectual Disability 58. Among its related pathways are Chromatin organization and TGF-Beta Pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding and RNA polymerase II complex binding.
UniProtKB/Swiss-Prot Summary for ELP2 Gene
-
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).
Additional gene information for ELP2 Gene
- HGNC(18248)
- Entrez Gene(55250)
- Ensembl(ENSG00000134759)
- OMIM(616054)
- UniProtKB(Q6IA86)
- Open Targets Platform(ENSG00000134759)
- Monarch Initiative
- Search for ELP2 at DataMed
- Search for ELP2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELP2 Gene
Genomics for ELP2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ELP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ELP2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELP2
- Top Transcription factor binding sites by QIAGEN in the ELP2 gene promoter:
-
- AREB6
- C/EBPalpha
- CP2
- FOXO1
- FOXO1a
- FOXO4
- GATA-1
- Gfi-1
- NCX
Genomic Locations for ELP2 Gene
Genomic Locations for ELP2 Gene
- chr18:36,129,444-36,180,557
- (GRCh38/hg38)
- Size:
- 51,114 bases
- Orientation:
- Plus strand
- chr18:33,709,407-33,757,909
- (GRCh37/hg19)
- Size:
- 48,503 bases
- Orientation:
- Plus strand
Genomic View for ELP2 Gene
Genes around ELP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q12.2 by HGNC
- 18q12.2 by Entrez Gene
- 18q12.2 by Ensembl
ELP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ELP2 Gene
Proteins for ELP2 Gene
-
Protein details for ELP2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6IA86-ELP2_HUMAN
- Recommended name:
- Elongator complex protein 2
- Protein Accession:
- Q6IA86
- A8KAI6
- B4DTG0
- B4DXP0
- E7EP23
- E9PCX0
- Q53GZ0
- Q687Y8
- Q8N5C2
- Q96GV4
- Q96PI7
- Q9H9N0
- Q9NV81
Protein attributes for ELP2 Gene
- Size:
- 826 amino acids
- Molecular mass:
- 92500 Da
- Quaternary structure:
-
- 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).
- Miscellaneous:
-
- [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Protein Expression for ELP2 Gene
Post-translational modifications for ELP2 Gene
Other Protein References for ELP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ StIp1 Antibody
- Novus Biologicals Antibodies for ELP2
- Invitrogen Antibodies for ELP2 (AFLGC-Elp2)
-
Biorbyt antibodies for ELP2
-
Boster Bio Antibodies for ELP2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ELP2
- Origene Custom Protein Services for ELP2
-
Signalway Proteins for ELP2
No data available for DME Specific Peptides for ELP2 Gene
Domains & Families for ELP2 Gene
Gene Families for ELP2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for ELP2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ELP2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ58621, highly similar to Stat3-interacting protein (B4DTG0_HUMAN)
- STAT3-interacting protein 1 (ELP2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6IA86- Family:
-
- Belongs to the WD repeat ELP2 family.
Function for ELP2 Gene
Molecular function for ELP2 Gene
- UniProtKB/Swiss-Prot Function:
- 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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000993 | contributes_to RNA polymerase II complex binding | IDA | 11714725 |
| GO:0005515 | protein binding | IEA | -- |
| GO:0019901 | protein kinase binding | IEA | -- |
Phenotypes for ELP2 Gene
- GenomeRNAi human phenotypes for ELP2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ELP2 - Select products 50% OFF >
- * ELP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ELP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ELP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ELP2
miRNA for ELP2 Gene
- miRTarBase miRNAs that target ELP2
-
- mmu-let-7b-5p (MIRT012048)
- hsa-miR-124-3p (MIRT022867)
- hsa-miR-17-5p (MIRT050907)
- hsa-miR-3180-5p (MIRT446243)
- hsa-miR-6858-5p (MIRT446244)
- hsa-miR-1273e (MIRT446245)
- hsa-miR-4689 (MIRT446246)
- hsa-miR-1224-5p (MIRT446247)
- hsa-miR-3915 (MIRT446248)
- hsa-miR-525-5p (MIRT446249)
- hsa-miR-520a-5p (MIRT446250)
- hsa-miR-4751 (MIRT446251)
- hsa-miR-5004-5p (MIRT446252)
- hsa-miR-6847-5p (MIRT446253)
- hsa-miR-6859-5p (MIRT446254)
- hsa-miR-3916 (MIRT446255)
- hsa-miR-3125 (MIRT446256)
- hsa-miR-4693-5p (MIRT488678)
- hsa-miR-1257 (MIRT488679)
- hsa-miR-892a (MIRT488680)
- hsa-miR-4318 (MIRT488681)
- hsa-miR-7153-5p (MIRT610779)
- hsa-miR-146b-5p (MIRT610780)
- hsa-miR-146a-5p (MIRT610781)
- hsa-miR-302a-5p (MIRT610782)
- hsa-miR-335-5p (MIRT610783)
- hsa-miR-3925-5p (MIRT610784)
- hsa-miR-497-3p (MIRT616601)
- hsa-miR-1238-3p (MIRT646520)
- hsa-miR-670-3p (MIRT646521)
- hsa-miR-5006-3p (MIRT646522)
- hsa-miR-4755-5p (MIRT646523)
- hsa-miR-211-5p (MIRT646524)
- hsa-miR-204-5p (MIRT646525)
- hsa-miR-6734-3p (MIRT646526)
- hsa-miR-623 (MIRT646527)
- hsa-miR-6832-3p (MIRT646528)
- hsa-miR-5088-3p (MIRT646529)
- hsa-miR-4673 (MIRT646530)
- hsa-miR-4645-5p (MIRT646531)
- hsa-miR-129-5p (MIRT670401)
- hsa-miR-8055 (MIRT670402)
- hsa-miR-744-3p (MIRT670403)
- hsa-miR-4309 (MIRT670404)
- hsa-miR-3198 (MIRT670405)
- hsa-miR-6794-3p (MIRT670406)
- hsa-miR-4423-5p (MIRT670407)
- hsa-miR-6501-5p (MIRT670408)
- hsa-miR-4294 (MIRT670409)
- hsa-miR-1289 (MIRT670410)
- hsa-miR-8082 (MIRT670411)
- hsa-miR-4534 (MIRT670412)
- hsa-miR-1273f (MIRT670413)
- hsa-miR-4708-5p (MIRT670414)
- hsa-miR-6088 (MIRT670415)
- hsa-miR-4770 (MIRT670416)
- hsa-miR-143-3p (MIRT670417)
- hsa-miR-367-5p (MIRT670418)
- hsa-miR-1267 (MIRT670419)
- hsa-miR-1304-3p (MIRT670420)
- hsa-miR-4639-3p (MIRT670421)
- hsa-miR-6514-5p (MIRT670422)
- hsa-miR-3664-5p (MIRT670423)
- hsa-miR-7977 (MIRT670424)
- hsa-miR-3178 (MIRT670425)
- hsa-miR-5787 (MIRT670426)
- hsa-miR-4505 (MIRT670427)
- hsa-miR-24-3p (MIRT670428)
- hsa-miR-4284 (MIRT670429)
- hsa-miR-4486 (MIRT670430)
- hsa-miR-5693 (MIRT670431)
- hsa-miR-484 (MIRT670432)
- hsa-miR-3155b (MIRT670433)
- hsa-miR-3155a (MIRT670434)
- hsa-miR-510-5p (MIRT670435)
- hsa-miR-383-3p (MIRT673290)
- hsa-miR-6881-3p (MIRT722814)
- hsa-miR-6780a-3p (MIRT722815)
- hsa-miR-7111-3p (MIRT722816)
- hsa-miR-3925-3p (MIRT722817)
- hsa-miR-766-3p (MIRT722818)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ELP2
- Browse OriGene Inhibitory RNA Products For ELP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELP2
Clone Products
- Applied Biological Materials (abm): Clones for ELP2 - Select products 50% OFF >
- * ELP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ELP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ELP2
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for ELP2 Gene
Localization for ELP2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ELP2 Gene
- Cytoplasm. Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Cytosol (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | NAS | 11714725 |
| GO:0005829 | cytosol | IDA | -- |
| GO:0008023 | transcription elongation factor complex | IDA | 11714725 |
Pathways & Interactions for ELP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin organization | ||
| 2 | TGF-Beta Pathway |
JAK-STAT Pathway
.57
|
|
Pathways by source for ELP2 Gene
3 Reactome pathways for ELP2 Gene
1 Qiagen pathway for ELP2 Gene
- JAK-STAT Pathway
UniProtKB/Swiss-Prot Q6IA86-ELP2_HUMAN
- Pathway: tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.
Interacting Proteins for ELP2 Gene
GPS-Prot Interaction Network for ELP2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002098 | tRNA wobble uridine modification | IEA | -- |
| GO:0006357 | regulation of transcription by RNA polymerase II | TAS | 11714725 |
| GO:0006368 | transcription elongation from RNA polymerase II promoter | TAS | 11714725 |
| GO:0008033 | tRNA processing | IEA | -- |
| GO:0046425 | regulation of JAK-STAT cascade | IEA | -- |
No data available for SIGNOR curated interactions for ELP2 Gene
Transcripts for ELP2 Gene
mRNA/cDNA for ELP2 Gene
- 11 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000358232 8432 nts (view in UCSC)
- ENST00000544267 553 nts (view in UCSC)
- ENST00000351393 2453 nts (view in UCSC)
- ENST00000541190 583 nts (view in UCSC)
- ENST00000545632 569 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ELP2 - Select products 50% OFF >
- * ELP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ELP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ELP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ELP2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ELP2
- Browse OriGene Inhibitory RNA Products For ELP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELP2
Clone Products
- Applied Biological Materials (abm): Clones for ELP2 - Select products 50% OFF >
- * ELP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ELP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ELP2
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | ^ | 14 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP20: |
| ExUns: | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | · | 23c | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | · | 27c | · | 27d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||||||||||||||
| SP17: | |||||||||||||||||||||||||||||||||||||||||||||
| SP18: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP19: | |||||||||||||||||||||||||||||||||||||||||||||
| SP20: |
Relevant External Links for ELP2 Gene
- GeneLoc Exon Structure for
- ELP2
Expression for ELP2 Gene
This gene is overexpressed in Lymph node (18.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ELP2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ELP2
SOURCE GeneReport for Unigene cluster for ELP2 Gene:
Hs.8739Evidence on tissue expression from TISSUES for ELP2 Gene
- Liver(4.4)
- Nervous system(4.4)
- Blood(4.4)
- Skin(2.4)
- Intestine(2.2)
- Muscle(2)
Primer Products
-
OriGene qPCR primer pairs for ELP2
-
OriGene qPCR primer pairs and template standards for ELP2
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ELP2 Gene
Orthologs for ELP2 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ELP2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ELP2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ELP2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Elp2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Elp2 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ELP2 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ELP2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ELP2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ELP2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | elp2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | elp2 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Elp2 30 31 |
|
OneToOne | |
| CG11887 32 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006889 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | Y111B2A.17 32 |
|
|
|
| elpc-2 31 |
|
OneToOne | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ELP2 30 31 33 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F22000g 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACL116W 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ELP2 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os08g0493900 30 |
|
||
| Os.19179 30 |
|
||||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | elp2 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU04176 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.14172 30 |
|
- Species where no ortholog for ELP2 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ELP2 Gene
- ENSEMBL:
- Gene Tree for ELP2 (if available)
- TreeFam:
- Gene Tree for ELP2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ELP2: view image
Paralogs for ELP2 Gene
No data available for Paralogs for ELP2 Gene
Variants for ELP2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELP2 Gene
| SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 710518 | Likely Benign: not provided | 36,136,313(+) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 710519 | Benign: not provided | 36,171,050(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 711217 | Benign: not provided | 36,171,085(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 721087 | Likely Benign: not provided | 36,156,549(+) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 721352 | Likely Benign: not provided | 36,170,128(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
32.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
12.97;
94.96% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ELP2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELP2 Gene
Disorders for ELP2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, autosomal recessive 58 |
|
|
| autosomal recessive intellectual disability 58 |
|
|
| neuropathy, hereditary sensory and autonomic, type iii |
|
|
| benign epilepsy with centrotemporal spikes |
|
|
| non-syndromic x-linked intellectual disability |
|
|
Search ELP2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ELP2_HUMAN- Mental retardation, autosomal recessive 58 (MRT58) [MIM:617270]: A 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. {ECO:0000269 PubMed:25847581}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ELP2
No data available for Genatlas for ELP2 Gene
Publications for ELP2 Gene
- Purification and characterization of the human elongator complex. (PMID: 11714725) Hawkes NA … Svejstrup JQ (The Journal of biological chemistry 2002) 2 3 4
- A Stat3-interacting protein (StIP1) regulates cytokine signal transduction. (PMID: 10954736) Collum RG … Schindler C (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 23
- ELP2 is a novel gene implicated in neurodevelopmental disabilities. (PMID: 25847581) Cohen JS … Fatemi A (American journal of medical genetics. Part A 2015) 3 4
- DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator. (PMID: 22854966) Close P … Chariot A (The Journal of biological chemistry 2012) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for ELP2 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
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- Search Origene for MassSpec and Protein Over-expression Lysates for ELP2
- Origene Custom Protein Services for ELP2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ELP2
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- OriGene qPCR primer pairs for ELP2
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- OriGene CRISPR knockouts for ELP2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ELP2
- Sino Biological Human cDNA Clone for ELP2
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- Novus Biologicals Antibodies for ELP2
- Novus Biologicals proteins and lysates for ELP2
- Browse Antibodies
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- Invitrogen Antibodies for ELP2 (AFLGC-Elp2)
- VectorBuilder Custom and pre-made DNA vectors for ELP2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ELP2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ELP2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ELP2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ELP2
- antibodies-online: Show 7 available ELP2 Antibodies ranked by validation data
- Compare Top ELP2 Antibodies
- antibodies-online: Search results for available ELP2 related products ranked by validation data
- antibodies-online: Show 3 available ELP2 Proteins ranked by validation data
- Compare Top ELP2 Proteins
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ELP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ELP2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ELP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELP2
- Boster Bio Antibodies for ELP2
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for ELP2
- Signalway Proteins for ELP2
Sources for ELP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
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- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
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- (48) IMGT
- (49) Leiden
- (50) miRBase
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- (58) Novus Biologicals
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
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- (83) Illumina
- (84) COMPARTMENTS
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- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
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- (102) RVIS
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- (104) diseasecard
- (105) NIH Rare Diseases
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- (136) Human Protein Atlas
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- (138) Monarch Initiative
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- (140) HumanCyc
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- (148) RNACentral
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- (151) miR2Disease
- (152) DiseaseEnhancer
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- (154) Biorbyt
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- (156) Mastermind
- (157) CTD^2 Dashboard
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- (159) GeneImprint
- (160) Synthego
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- (164) LncBook
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- (178) MirGeneDB