Gene

eftud2

ID

ZDB-GENE-040426-1569

Name

elongation factor Tu GTP binding domain containing 2

Symbol

eftud2 Nomenclature History

Previous Names

wu:fi20f05
zgc:66214 (1)

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Description

Predicted to have GTPase activity and U5 snRNA binding activity. Involved in several processes, including camera-type eye development; generation of neurons; and mRNA splicing, via spliceosome. Predicted to localize to U2-type catalytic step 2 spliceosome; U4/U6 x U5 tri-snRNP complex; and cytosol. Used to study Treacher Collins syndrome and mandibulofacial dysostosis, Guion-Almeida type. Human ortholog(s) of this gene implicated in esophageal atresia and mandibulofacial dysostosis, Guion-Almeida type. Is expressed in head; immature eye; and nervous system. Orthologous to human EFTUD2 (elongation factor Tu GTP binding domain containing 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:66214 (1 image)
IMAGE:7136033 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 13 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With eftud2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
mandibulofacial dysostosis, Guion-Almeida type	Alliance	Mandibulofacial dysostosis, Guion-Almeida type	610536

Associated With eftud2 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Treacher Collins syndrome	eftud2^fn10a/fn10a (TL)	standard conditions	Lei et al., 2017
mandibulofacial dysostosis, Guion-Almeida type	eftud2^fn10a/fn10a (TL)	standard conditions	Lei et al., 2017

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000640	Elongation factor EFG, domain V-like
Domain	IPR000795	Translational (tr)-type GTP-binding domain
Domain	IPR004161	Translation elongation factor EFTu-like, domain 2
Domain	IPR005225	Small GTP-binding domain
Domain	IPR005517	Translation elongation factor EFG/EF2, domain IV
Domain	IPR031950	116kDa U5 small nuclear ribonucleoprotein component, N-terminal
Domain	IPR035655	116kDa U5 small nuclear ribonucleoprotein component, C-terminal
Domain	IPR041095	Elongation Factor G, domain II
Domain	IPR044121	Snu114, GTP-binding domain
Homologous_superfamily	IPR009000	Translation protein, beta-barrel domain superfamily
Homologous_superfamily	IPR014721	Small ribosomal subunit protein uS5 domain 2-type fold, subgroup
Homologous_superfamily	IPR020568	Ribosomal protein uS5 domain 2-type superfamily
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR035647	EF-G domain III/V-like

Domain Details Per Protein

Protein	Length	116kDa U5 small nuclear ribonucleoprotein component, C-terminal	116kDa U5 small nuclear ribonucleoprotein component, N-terminal	EF-G domain III/V-like	Elongation factor EFG, domain V-like	Elongation Factor G, domain II	P-loop containing nucleoside triphosphate hydrolase	Ribosomal protein uS5 domain 2-type superfamily	Small GTP-binding domain	Small ribosomal subunit protein uS5 domain 2-type fold, subgroup	Snu114, GTP-binding domain	Translational (tr)-type GTP-binding domain	Translation elongation factor EFG/EF2, domain IV	Translation elongation factor EFTu-like, domain 2	Translation protein, beta-barrel domain superfamily
UniProtKB:A8WFS1 InterPro	973

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	eftud2-201 (1) Ensembl	Ensembl	3,355 nt	Select Tool ZFIN BLAST
mRNA	eftud2-202 (1) Ensembl	Ensembl	2,171 nt	Select Tool
mRNA	eftud2-203 (1) Ensembl	Ensembl	1,685 nt	Select Tool
mRNA	eftud2-204 (1) Ensembl	Ensembl	2,913 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-eftud2	polyclonal	eftud2		Rabbit	WB	Sigma-Aldrich	2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations