EFTUD2

116 kDa U5 small nuclear ribonucleoprotein component is a protein that in humans is encoded by the EFTUD2 gene.^[5][6]

EFTUD2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3JCR
Identifiers
Aliases	EFTUD2, MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD, elongation factor Tu GTP binding domain containing 2
External IDs	OMIM: 603892; MGI: 1336880; HomoloGene: 3133; GeneCards: EFTUD2; OMA:EFTUD2 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.31 Start 44,849,948 bp[1] End 44,899,445 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E1 Start 102,729,299 bp[2] End 102,771,811 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bone marrow cells tibialis anterior muscle ventricular zone monocyte mucosa of ileum ganglionic eminence skin of arm gastrocnemius muscle stromal cell of endometrium islet of Langerhans Top expressed in maxillary prominence mandibular prominence tail of embryo abdominal wall somite dermis epiblast internal carotid artery external carotid artery primitive streak More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding GTP binding protein binding GTPase activity RNA binding U5 snRNA binding Cellular component Cajal body nuclear speck catalytic step 2 spliceosome spliceosomal complex membrane nucleus nucleoplasm extracellular matrix cytosol U4/U6 x U5 tri-snRNP complex U2-type catalytic step 2 spliceosome ribonucleoprotein complex U2-type precatalytic spliceosome Biological process mRNA splicing, via spliceosome mRNA processing RNA splicing response to cocaine Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9343 20624 Ensembl ENSG00000108883 ENSMUSG00000020929 UniProt Q15029 O08810 RefSeq (mRNA) NM_001142605 NM_001258353 NM_001258354 NM_004247 NM_001109995 NM_011431 RefSeq (protein) NP_001136077 NP_001245282 NP_001245283 NP_004238 NP_001103465 NP_035561 Location (UCSC) Chr 17: 44.85 – 44.9 Mb Chr 11: 102.73 – 102.77 Mb PubMed search [3] [4]
Wikidata
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Disease associations

Heterozygous loss-of-function mutations in EFTUD2 cause Mandibulofacial Dysostosis with Microcephaly (MFDM; OMIM #610536),^[7] a multiple malformation syndrome comprising progressive microcephaly (present in all affected individuals), craniofacial skeletal anomalies, cleft palate, deafness, choanal atresia, small stature, and/or cardiac and thumb anomalies.

Interactions

EFTUD2 has been shown to interact with WDR57^[8][9] and PRPF8.^[9]