ELP2 (elongator acetyltransferase complex subunit 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55250
Gene name Gene Name - the full gene name approved by the HGNC.
Elongator acetyltransferase complex subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ELP2
Synonyms (NCBI Gene) Gene synonyms aliases
MRT58, SHINC-2, STATIP1, StIP
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q12.2
Summary Summary of gene provided in NCBI Entrez 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 hel
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs371310428 G>A,T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs767713084 C>T Conflicting-interpretations-of-pathogenicity, pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs772450541 A>C,G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs773432002 A>G Not-provided, likely-pathogenic, pathogenic Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs867944805 TAAA>- Not-provided, likely-pathogenic Coding sequence variant, non coding transcript variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(413)
miRTarBase ID miRNA Experiments Reference
MIRT022867 hsa-miR-124-3p Microarray 18668037
MIRT050907 hsa-miR-17-5p CLASH 23622248
MIRT646531 hsa-miR-4645-5p HITS-CLIP 19536157
MIRT646530 hsa-miR-4673 HITS-CLIP 19536157
MIRT646529 hsa-miR-5088-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0000993 Function RNA polymerase II complex binding IDA 11714725
GO:0002098 Process TRNA wobble uridine modification IEA
GO:0002098 Process TRNA wobble uridine modification NAS 27847465
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616054 18248 ENSG00000134759
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6IA86
Protein name Elongator complex protein 2 (ELP2) (SHINC-2) (STAT3-interacting protein 1) (StIP1)
Protein function Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29332244). Th
PDB 8PTX , 8PTY , 8PTZ , 8PU0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 48 → 91 WD domain, G-beta repeat Repeat
PF00400 WD40 197 → 237 WD domain, G-beta repeat Repeat
PF00400 WD40 378 → 416 WD domain, G-beta repeat Repeat
PF00400 WD40 604 → 642 WD domain, G-beta repeat Repeat
PF00400 WD40 660 → 696 WD domain, G-beta repeat Repeat
Sequence 
MVAPVLETSHVFCCPNRVRGVLNWSSGPRGLLAFGTSCSVVLYDPLKRVVVTNLNGHTAR
VNCIQWICKQDGSPSTELVSGGSDNQVIHWEIEDNQLLKAVHLQGHEGPVYAVHAVYQRR
TSDPALCTLIVSAAADSAVRLWSKKGPEVMCLQTLNFGNGFALALCLSFLPNTDVPILAC
GNDDCRIHIFAQQNDQFQKVLSLCGHEDWIRGVEWAAFGRDLFLASCSQDCLIRIWKLYI
KSTSLETQDDDNIRLKENTFTIENESVKIAFAVTLETVLAGHENWVNAVHWQPVFYKDGV
LQQPVRLLSASMDKTMILWAPDEESGVWLEQVRVGEVGGNTLGFYDCQFNEDGSMIIAHA
FHGALHLWKQNTVNPREWTPEIVISGHFDGVQDLVWDPEGEFIITVGTDQTTRLFAPWKR
KDQSQVTWHEIARPQIHGYDLKCLAMINRFQFVSGADEKVLRVFSAPRNFVENFCAITGQ
SLNHVLCNQDSDLPEGATVPALGLSNKAVFQGDIASQPSDEEELLTSTGFEYQQVAFQPS
ILTEPPTEDHLLQNTLWPEVQKLYGHGYEIFCVTCNSSKTLLASACKAAKKEHAAIILWN
TTSWKQVQNLVFHSLTVTQMAFSPNEKFLLAVSRDRTWSLWKKQDTISPEFEPVFSLFAF
TNKITSVHSRIIWSCDWSPDSKYFFTGSRDKKVVVWGECDSTDDCIEHNIGPCSSVLDVG
GAVTAVSVCPVLHPSQRYVVAVGLECGKICLYTWKKTDQVPEINDWTHCVETSQSQSHTL
AIRKLCWKNCSGKTEQKEAEGAEWLHFASCGEDHTVKIHRVNKCAL
Sequence length 826
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal recessive 58 rs773432002, rs772450541, rs371310428, rs1400164869 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 32493705
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 25712083
Cystic Fibrosis Associate 22069317
Leukemia Myelogenous Chronic BCR ABL Positive Associate 25417721