ELP2 (elongator acetyltransferase complex subunit 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 55250
Gene name Elongator acetyltransferase complex subunit 2
Gene symbol ELP2
Synonyms (NCBI Gene)
MRT58SHINC-2STATIP1StIP
Chromosome 18
Chromosome location 18q12.2
Summary 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.
6
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.
413
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616054 18248 ENSG00000134759
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
53
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ELP2-related disorder Likely pathogenic; Pathogenic rs773432002, rs867944805 RCV000509137
RCV000509425
Intellectual disability, autosomal recessive 58 Likely pathogenic; Pathogenic rs1403940898, rs773432002, rs780652067, rs2511279303, rs772450541, rs371310428, rs1400164869 RCV002795904
RCV000415587
RCV003315189
RCV003993645
RCV000415581
RCV000415524
RCV001089966
RCV001089967
Profound intellectual disability Likely pathogenic; Pathogenic rs371310428, rs1331690035, rs2090515872 RCV001310086
RCV001310085
RCV001310087
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Likely benign rs151280482 RCV005906313
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Uncertain significance rs2090578313 RCV001335770
See cases Conflicting classifications of pathogenicity rs553697188 RCV002252365
Thyroid cancer, nonmedullary, 1 Likely benign rs151280482 RCV005906314
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease 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