Gene

exosc2

ID

ZDB-GENE-050417-27

Name

exosome component 2

Symbol

exosc2 Nomenclature History

Previous Names

fa97b01
wu:fa97b01
zgc:110117

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Description

Predicted to enable RNA binding activity. Acts upstream of or within neural retina development; ribonucleotide metabolic process; and spinal cord development. Predicted to be part of cytoplasmic exosome (RNase complex) and nuclear exosome (RNase complex). Is expressed in immature eye; midbrain hindbrain boundary; and optic tectum. Human ortholog(s) of this gene implicated in short stature, hearing loss, retinitis pigmentosa, and distinctive facies. Orthologous to human EXOSC2 (exosome component 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:6903240 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from Yatsuka et al., 2020
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With exosc2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
short stature, hearing loss, retinitis pigmentosa, and distinctive facies	Alliance	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	617763

Associated With exosc2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR004088	K Homology domain, type 1
Domain	IPR025721	Exosome complex component, N-terminal domain
Domain	IPR048565	RRP4, S1 domain
Family	IPR026699	Exosome complex RNA-binding protein 1/RRP40/RRP4
Homologous_superfamily	IPR012340	Nucleic acid-binding, OB-fold
Homologous_superfamily	IPR036612	K Homology domain, type 1 superfamily