Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26610
Gene name	Elongator acetyltransferase complex subunit 4
Gene symbol	ELP4
Synonyms (NCBI Gene)	ANAN2C11orf19PAX6NEBPAXNEBdJ68P15A.1hELP4
Chromosome	11
Chromosome location	11p13
Summary	This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of ye

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs606231388	C>A	Pathogenic	Intron variant

Show/Hide all (11)

miRTarBase ID	miRNA	Experiments	Reference
MIRT440726	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT440726	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT961682	hsa-miR-1305	CLIP-seq
MIRT961683	hsa-miR-1914	CLIP-seq
MIRT961684	hsa-miR-3173-3p	CLIP-seq
MIRT961685	hsa-miR-4428	CLIP-seq
MIRT961686	hsa-miR-4521	CLIP-seq
MIRT961687	hsa-miR-498	CLIP-seq
MIRT961682	hsa-miR-1305	CLIP-seq
MIRT961683	hsa-miR-1914	CLIP-seq
MIRT961687	hsa-miR-498	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002098	Process	TRNA wobble uridine modification	IBA
GO:0002098	Process	TRNA wobble uridine modification	IEA
GO:0002098	Process	TRNA wobble uridine modification	NAS	27847465
GO:0005515	Function	Protein binding	IPI	17577209, 22854966, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11818576, 22854966
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	11818576
GO:0006417	Process	Regulation of translation	NAS	22854966
GO:0008023	Component	Transcription elongation factor complex	IDA	11818576
GO:0008033	Process	TRNA processing	IEA
GO:0008607	Function	Phosphorylase kinase regulator activity	IDA	11818576
GO:0033588	Component	Elongator holoenzyme complex	IBA
GO:0033588	Component	Elongator holoenzyme complex	IDA	22854966
GO:0033588	Component	Elongator holoenzyme complex	IEA
GO:0033588	Component	Elongator holoenzyme complex	IPI	22854966

MIM	HGNC	e!Ensembl
606985	1171	ENSG00000109911

Q96EB1

Protein name

Elongator complex protein 4 (hELP4) (PAX6 neighbor gene protein)

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05625	PAXNEB	45 → 415	PAXNEB protein	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11889558}.

Sequence

MAAVATCGSVAASTGSAVATASKSNVTSFQRRGPRASVTNDSGPRLVSIAGTRPSVRNGQ
LLVSTGLPALDQLLGGGLAVGTVLLIEEDKYNIYSPLLFKYFLAEGIVNGHTLLVASAKE
DPANILQELPAPLLDDKCKKEFDEDVYNHKTPESNIKMKIAWRYQLLPKMEIGPVSSSRF
GHYYDASKRMPQELIEASNWHGFFLPEKISSTLKVEPCSLTPGYTKLLQFIQNIIYEEGF
DGSNPQKKQRNILRIGIQNLGSPLWGDDICCAENGGNSHSLTKFLYVLRGLLRTSLSACI
ITMPTHLIQNKAIIARVTTLSDVVVGLESFIGSERETNPLYKDYHGLIHIRQIPRLNNLI
CDESDVKDLAFKLKRKLFTIERLHLPPDLSDTVSRSSKMDLAESAKRLGPGCGMMAGGKK
HLDF

Sequence length

424

Interactions

View interactions

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aniridia 1	Pathogenic	rs606231388	RCV000106409
Cognitive impairment	Likely pathogenic	rs755762601, rs758883150	RCV001797564 RCV001797565
Global developmental delay	Likely pathogenic	rs755762601, rs758883150	RCV001797564 RCV001797565
Seizure	Likely pathogenic	rs755762601, rs758883150	RCV001797564 RCV001797565

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Aniridia 2	Uncertain significance; Benign	rs1945237259, rs4922872	RCV001334044 RCV001661277
Autism spectrum disorder	Likely benign; association	rs777078963, rs754625061	RCV003127245 RCV001291505
ELP4-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs776978760, rs1592311224, rs1179728298, rs373853950, rs201699595, rs3026404, rs200018893, rs368443240	RCV003419110 RCV003404475 RCV003899042 RCV003931524 RCV003908356 RCV003930458 RCV003920467 RCV003978224

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aniridia	Associate	21364908, 2544995, 7688557
Arachnoid Cysts	Associate	31743616
Depressive Disorder	Associate	31743616
Developmental Disabilities	Associate	19172991
Epilepsies Partial	Associate	19172991, 19682046
Epilepsy Rolandic	Associate	19172991, 20424645
Intellectual Disability	Associate	2544995
Obesity	Associate	26449484
Seizures	Associate	19172991
Wilms Tumor	Associate	7688557

ELP4 (elongator acetyltransferase complex subunit 4)