Gene Page: EFTUD2

Summary ?
GeneID9343
SymbolEFTUD2
SynonymsMFDGA|MFDM|SNRNP116|Snrp116|Snu114|U5-116KD
Descriptionelongation factor Tu GTP binding domain containing 2
ReferenceMIM:603892|HGNC:HGNC:30858|Ensembl:ENSG00000108883|HPRD:04869|Vega:OTTHUMG00000179865
Gene typeprotein-coding
Map location17q21.31
Pascal p-value0.251
Fetal beta-0.121
DMG1 (# studies)
eGeneMyers' cis & trans
SupportCompositeSet
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
EFTUD2chr1742942362CGNM_001142605
NM_001258353
NM_001258354
NM_004247		p.372E>D
p.407E>D
p.397E>D
p.407E>D		missense
missense
missense
missense		SchizophreniaDNM:Fromer_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg209027371742976442EFTUD21.65E-8-0.0226.06E-6DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs10994209chr1061877705EFTUD293430.04trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ARPC3ARC21 | p21-Arcactin related protein 2/3 complex, subunit 3, 21kDaTwo-hybridBioGRID16169070 
CD2BP2FWP010 | LIN1 | Snu40 | U5-52KCD2 (cytoplasmic tail) binding protein 2Affinity Capture-MSBioGRID17353931 
GSTK1GST13glutathione S-transferase kappa 1Affinity Capture-MSBioGRID17353931 
MYCbHLHe39 | c-Mycv-myc myelocytomatosis viral oncogene homolog (avian)Affinity Capture-MSBioGRID17353931 
PHLDA3TIH1pleckstrin homology-like domain, family A, member 3Affinity Capture-MSBioGRID17353931 
PRPF6ANT-1 | C20orf14 | TOM | U5-102K | hPrp6PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)-HPRD10788320 
PRPF8HPRP8 | PRP8 | PRPC8 | RP13PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)-HPRD,BioGRID9774689 
RNPS1E5.1 | MGC117332RNA binding protein S1, serine-rich domainAffinity Capture-MSBioGRID17353931 
RNU11U11RNA, U11 small nuclearAffinity Capture-MSBioGRID15146077 
RNU12U12RNA, U12 small nuclearAffinity Capture-MSBioGRID15146077 
SFRS12DKFZp564B176 | MGC133045 | SRrp508 | SRrp86splicing factor, arginine/serine-rich 12-HPRD14559993 
SNRNP4040K | FLJ41108 | HPRP8BP | MGC1910 | PRP8BP | PRPF8BP | RP11-490K7.3 | SPF38 | WDR57small nuclear ribonucleoprotein 40kDa (U5)Affinity Capture-MSBioGRID17353931 
SNRPBCOD | SNRPB1 | SmB/SmB' | snRNP-Bsmall nuclear ribonucleoprotein polypeptides B and B1Affinity Capture-MSBioGRID17353931 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG SPLICEOSOME 12872All SZGR 2.0 genes in this pathway
REACTOME PROCESSING OF CAPPED INTRON CONTAINING PRE MRNA 14077All SZGR 2.0 genes in this pathway
REACTOME MRNA PROCESSING 16186All SZGR 2.0 genes in this pathway
REACTOME MRNA SPLICING 11158All SZGR 2.0 genes in this pathway
REACTOME MRNA SPLICING MINOR PATHWAY 4519All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER EARLY UP 430232All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
MORI EMU MYC LYMPHOMA BY ONSET TIME UP 11069All SZGR 2.0 genes in this pathway
MENSSEN MYC TARGETS 5335All SZGR 2.0 genes in this pathway
MOREAUX B LYMPHOCYTE MATURATION BY TACI DN 7345All SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI DN 172107All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC DN 228146All SZGR 2.0 genes in this pathway
MODY HIPPOCAMPUS PRENATAL 4233All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS DN 543317All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593372All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS DN 591366All SZGR 2.0 genes in this pathway
IWANAGA CARCINOGENESIS BY KRAS PTEN DN 353226All SZGR 2.0 genes in this pathway
CAMPS COLON CANCER COPY NUMBER UP 9245All SZGR 2.0 genes in this pathway
ZHANG BREAST CANCER PROGENITORS UP 425253All SZGR 2.0 genes in this pathway
GRADE COLON AND RECTAL CANCER UP 285167All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS DN 366257All SZGR 2.0 genes in this pathway
DANG REGULATED BY MYC UP 7253All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 14 14386All SZGR 2.0 genes in this pathway
SENGUPTA EBNA1 ANTICORRELATED 17385All SZGR 2.0 genes in this pathway
NAKAMURA ADIPOGENESIS LATE UP 10467All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
ABRAMSON INTERACT WITH AIRE 4533All SZGR 2.0 genes in this pathway