Seroatlas · Human Serome Atlas

EFTUD2

116 kDa U5 small nuclear ribonucleoprotein component

Also known as: SNRNP116, Snrp116, Snu114, U5-116KD, U5S1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q15029
Gene
EFTUD2
Ensembl
ENSG00000108883
Chromosome
17
Canonical length
972 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Vesicles,Cytosol

OverviewNCBI 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. [provided by RefSeq, Apr 2012]

Canonical amino-acid sequenceUniProt

972 residues, UniProt reviewed canonical sequence.

>Q15029|EFTUD2
     1  MDTDLYDEFG NYIGPELDSD EDDDELGRET KDLDEMDDDD DDDDVGDHDD DHPGMEVVLH
    61  EDKKYYPTAE EVYGPEVETI VQEEDTQPLT EPIIKPVKTK KFTLMEQTLP VTVYEMDFLA
   121  DLMDNSELIR NVTLCGHLHH GKTCFVDCLI EQTHPEIRKR YDQDLCYTDI LFTEQERGVG
   181  IKSTPVTVVL PDTKGKSYLF NIMDTPGHVN FSDEVTAGLR ISDGVVLFID AAEGVMLNTE
   241  RLIKHAVQER LAVTVCINKI DRLILELKLP PTDAYYKLRH IVDEVNGLIS MYSTDENLIL
   301  SPLLGNVCFS SSQYSICFTL GSFAKIYADT FGDINYQEFA KRLWGDIYFN PKTRKFTKKA
   361  PTSSSQRSFV EFILEPLYKI LAQVVGDVDT SLPRTLDELG IHLTKEELKL NIRPLLRLVC
   421  KKFFGEFTGF VDMCVQHIPS PKVGAKPKIE HTYTGGVDSD LGEAMSDCDP DGPLMCHTTK
   481  MYSTDDGVQF HAFGRVLSGT IHAGQPVKVL GENYTLEDEE DSQICTVGRL WISVARYHIE
   541  VNRVPAGNWV LIEGVDQPIV KTATITEPRG NEEAQIFRPL KFNTTSVIKI AVEPVNPSEL
   601  PKMLDGLRKV NKSYPSLTTK VEESGEHVIL GTGELYLDCV MHDLRKMYSE IDIKVADPVV
   661  TFCETVVETS SLKCFAETPN KKNKITMIAE PLEKGLAEDI ENEVVQITWN RKKLGEFFQT
   721  KYDWDLLAAR SIWAFGPDAT GPNILVDDTL PSEVDKALLG SVKDSIVQGF QWGTREGPLC
   781  DELIRNVKFK ILDAVVAQEP LHRGGGQIIP TARRVVYSAF LMATPRLMEP YYFVEVQAPA
   841  DCVSAVYTVL ARRRGHVTQD APIPGSPLYT IKAFIPAIDS FGFETDLRTH TQGQAFSLSV
   901  FHHWQIVPGD PLDKSIVIRP LEPQPAPHLA REFMIKTRRR KGLSEDVSIS KFFDDPMLLE
   961  LAKQDVVLNY PM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EFTUD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
63 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 63 nTPM
  • tonsil: 44 nTPM
  • thymus: 38 nTPM
  • tongue: 36 nTPM
  • bone marrow: 35 nTPM
  • choroid plexus: 35 nTPM

Single-cell type

  • monocyte progenitors: 85 nCPM
  • differentiating spermatogonia: 82 nCPM
  • erythrocyte progenitors: 74 nCPM
  • neutrophil progenitors: 68 nCPM
  • adrenal cortex cells: 65 nCPM
  • megakaryocyte progenitors: 64 nCPM

Immune cell

  • eosinophil: 86 nTPM
  • non-classical monocyte: 85 nTPM
  • classical monocyte: 84 nTPM
  • myeloid DC: 83 nTPM
  • intermediate monocyte: 82 nTPM
  • total PBMC: 71 nTPM

Brain region

  • choroid plexus: 29 nTPM
  • cerebral cortex: 29 nTPM
  • thalamus: 29 nTPM
  • basal ganglia: 27 nTPM
  • white matter: 27 nTPM
  • pons: 26 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EFTUD2.

Disease | AllUniProt

Conditions EFTUD2 is implicated in, by any mechanism.

  • Mandibulofacial dysostosis with microcephaly (MFDM) MIM:610536

Disease | GeneticClinVar

181 pathogenic / likely-pathogenic of 955 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on EFTUD2 was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.09
gnomAD pLI
1
gnomAD missense Z
4.03
DepMap mean gene effect
-1.88
DepMap dependency class
pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EFTUD2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EFTUD2 as an antibody target. Whether an autoantibody or antibody against EFTUD2 could matter depends on whether native EFTUD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EFTUD2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EFTUD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EFTUD2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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