Elongation Factor Tu GTP-Binding Domain-Containing 2

Alternative Names

  • EFTUD2
  • U5 SnRNP-Specific Protein, 116-Kd
  • U5-116Kd
  • KIAA0031
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OMIM Number

603892

NCBI Gene ID

9343

Uniprot ID

Q15029

Length

49,498 bases

No. of Exons

29

No. of isoforms

3

Protein Name

116 kDa U5 small nuclear ribonucleoprotein component

Molecular Mass

109436 Da

Amino Acid Count

972

Genomic Location

chr17:44,849,947-44,899,444

Gene Map Locus
17q21.31

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004247.4:c.2622dupTLebanonNC_000017.11:g.44852505dupPathogenicMandibulofacial Dysostosis, Guion-Almeida TypeNG_032674.1:g.52124dup; NM_004247.4:c.2622dupT; NP_004238.3:p.Ile875TyrfsTer10
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