EFTUD2
Sign in to saveAlso known as MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD, elongation factor Tu GTP binding domain containing 2
116 kDa U5 small nuclear ribonucleoprotein component is a protein that in humans is encoded by the EFTUD2 gene.
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
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
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
~1 min read
Encyclopedic overview
4 sectionsContents
- Disease associations
- Interactions
- References
- Further reading
116 kDa U5 small nuclear ribonucleoprotein component is a protein that in humans is encoded by the EFTUD2 gene.
== Disease associations ==
Excerpted from Wikipedia’s “EFTUD2” article, available under the CC BY-SA 4.0 licence.