full name
elongation factor Tu GTP binding domain containing 2

synonyms
MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD, EFTUD2, ENSG00000108883

HGNC
HGNC:30858

Entrez Gene
Gene:9343

ENSEMBL
ENSG00000108883

location
chr: 17
start: 42927655
stop: 42976993
strand: -

OMIM
OMIM:603892: EFTUD2 (Autosomal dominant inheritance,Autosomal recessive inheritance)
OMIM:610536: Mandibulofacial dysostosis, Guion-Almeida type

transcripts
NM_001142605.1
NM_001258354.1
NM_004247.3
NM_001258353.1

pathways
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Processing of Capped Intron-Containing Pre-mRNA [NCBI:1269688] [REACTOME:R-HSA-72203]
Spliceosome [NCBI:125136] [KEGG:hsa03040] [PUBMED:10978320] [PUBMED:19239890] [PUBMED:19733268] [PUBMED:17537823]
mRNA Splicing [NCBI:1269689] [REACTOME:R-HSA-72172] [PUBMED:12226669]
mRNA Splicing - Major Pathway [NCBI:1269690] [REACTOME:R-HSA-72163]
mRNA Splicing - Minor Pathway [NCBI:1269691] [REACTOME:R-HSA-72165] [PUBMED:10207048] [PUBMED:9149533]