EFTUD2
Sign in to saveAlso known as MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD, elongation factor Tu GTP binding domain containing 2
gene umano
Gene data
EFTUD2- Name
- elongation factor Tu GTP binding domain containing 2
- Type
- protein-coding
- Position
- 44,849,948–44,899,629 (−)
- Aliases
- MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD
- Ensembl
- ENSG00000108883
- RefSeq RNA
- NM_001142605.2, NM_001258353.2, NM_001258354.2, NM_004247.4, XM_047437084.1
- RefSeq protein
- NP_001136077.1, NP_001245282.1, NP_001245283.1, NP_004238.3, XP_047293040.1
This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012].
Gene Ontology
Biological process
spliceosomal tri-snRNP complex assemblyspliceosomal snRNP assemblyspliceosome conformational change to release U4 (or U4atac) and U1 (or U11)mRNA splicing, via spliceosomemRNA splicing, via spliceosomemRNA splicing, via spliceosomeresponse to cocainenegative regulation of mRNA splicing, via spliceosome
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
elongation factor Tu GTP binding domain containing 2
- Symbol
- EFTUD2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:44,849,948-44,899,629
- Strand
- Reverse (−)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 3133
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/9343
- genomic end
- 44899445
- genomic start
- 44849948
- expressed in
- islet of Langerhans
- chromosome
- human chromosome 17
- cytogenetic location
- 17q21.31
via Wikidata · CC0