eftud2 elongation factor Tu GTP binding domain containing 2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: eftud2provided by ZNC
Official Full Name: elongation factor Tu GTP binding domain containing 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-1569
See related: Ensembl:ENSDARG00000012261 AllianceGenome:ZFIN:ZDB-GENE-040426-1569
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:66214; wu:fi20f05
Summary: Predicted to enable GTPase activity and U5 snRNA binding activity. Acts upstream of or within several processes, including camera-type eye development; mRNA splicing, via spliceosome; and regulation of neuron differentiation. Predicted to be located in nucleus. Predicted to be part of U2-type catalytic step 2 spliceosome and U4/U6 x U5 tri-snRNP complex. Predicted to be active in cytosol. Is expressed in head; immature eye; and nervous system. 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. Orthologous to human EFTUD2 (elongation factor Tu GTP binding domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 3

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	3	NC_007114.7 (16389020..16413635, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	3	NC_007114.6 (16239218..16263835, complement)

Chromosome 3 - NC_007114.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

study has established that eftud2 functions in RNA splicing during neural development
Title: Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables U5 snRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within RNA splicing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within head development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of U2-type catalytic step 2 spliceosome	IBA Inferred from Biological aspect of Ancestor more info
part_of U4/U6 x U5 tri-snRNP complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 116 kDa U5 small nuclear ribonucleoprotein component

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_200508.2 → NP_956802.2 116 kDa U5 small nuclear ribonucleoprotein component

See identical proteins and their annotated locations for NP_956802.2

Status: PROVISIONAL

Source sequence(s)

BC154433

UniProtKB/TrEMBL

A8WFS1

Related

ENSDARP00000028033.6, ENSDART00000017172.8

Conserved Domains (7) summary

cd04167
Location:131 → 329

Snu114p; Snu114p, a spliceosome protein, is a GTPase

cd01683
Location:658 → 835

EF2_IV_snRNP; EF-2_domain IV_snRNP domain is a part of 116kD U5-specific protein of the U5 small nucleoprotein (snRNP) particle, essential component of the spliceosome. The protein is structurally closely related to the eukaryotic translational elongation factor EF2. ...

cd04098
Location:830 → 909

eEF2_C_snRNP; eEF2_C_snRNP: This family includes a C-terminal portion of the spliceosomal human 116kD U5 small nuclear ribonucleoprotein (snRNP) protein (U5-116 kD) and, its yeast counterpart Snu114p. This domain is homologous to the C-terminal domain of the ...

PTZ00416
Location:123 → 955

PTZ00416; elongation factor 2; Provisional

pfam16004
Location:4 → 111

EFTUD2; 116 kDa U5 small nuclear ribonucleoprotein component N-terminus

cd04090
Location:475 → 568

EF2_II_snRNP; Domain II of the spliceosomal 116kD U5 small nuclear ribonucleoprotein (snRNP) component

cd16264
Location:587 → 658

snRNP_III; Domain III of the spliceosomal 116kD U5 small nuclear ribonucleoprotein (snRNP) component