QuickView for EFTUD2 (gene)

Gene Symbol:

EFTUD2 Homo sapiens

Full name:

elongation factor Tu GTP binding domain containing 2

Synonyms:

MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD, 116 kDa U5 small nuclear ribonucleoprotein component, SNU114 homolog, U5 snRNP-specific protein, 116 kDa, elongation factor Tu GTP-binding domain-containing protein 2, hSNU114

Genomic Location:

Chr 17: 40283805-40332289

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.

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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

MIF1_01 ,  CACGTG_MYC_Q2 ,  RFX1_01 ,  USF_C ,  PAX6_01 ,  USF_Q6_01 ,  SCGGAAGY_ELK1_02 ,  RYTGCNNRGNAAC_MIF1_01

Cytogenetic Map:

17q21.31

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