Gene

elp2

ID

ZDB-GENE-060503-525

Name

elongator acetyltransferase complex subunit 2

Symbol

elp2 Nomenclature History

Previous Names

si:dkey-190l1.1
zgc:153559

Type

protein_coding_gene

Location

Chr: 19 Mapping Details/Browsers

Description

Predicted to be involved in tRNA wobble uridine modification. Predicted to localize to Elongator holoenzyme complex and transcription elongation factor complex. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Is expressed in female organism. Orthologous to human ELP2 (elongator acetyltransferase complex subunit 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Newman et al., 2019

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With elp2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive intellectual developmental disorder 58	Alliance	Intellectual developmental disorder, autosomal recessive 58	617270

Associated With elp2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR037289	Elongator complex protein 2
Homologous_superfamily	IPR011047	Quinoprotein alcohol dehydrogenase-like superfamily
Homologous_superfamily	IPR011048	Cytochrome cd1-nitrite reductase-like, haem d1 domain superfamily
Homologous_superfamily	IPR015943	WD40/YVTN repeat-like-containing domain superfamily
Homologous_superfamily	IPR036322	WD40-repeat-containing domain superfamily
Repeat	IPR001680	WD40 repeat