ENSG00000108883


Homo sapiens

Features
Gene ID: ENSG00000108883
  
Biological name :EFTUD2
  
Synonyms : EFTUD2 / elongation factor Tu GTP binding domain containing 2 / Q15029
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q21.31
Gene start: 44849943
Gene end: 44899662
  
Corresponding Affymetrix probe sets: 222397_at (Human Genome U133 Plus 2.0 Array)   222398_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000467805
Ensembl peptide - ENSP00000385873
Ensembl peptide - ENSP00000465051
Ensembl peptide - ENSP00000464908
Ensembl peptide - ENSP00000464882
Ensembl peptide - ENSP00000392094
Ensembl peptide - ENSP00000468284
Ensembl peptide - ENSP00000465058
Ensembl peptide - ENSP00000467249
Ensembl peptide - ENSP00000467639
NCBI entrez gene - 9343     See in Manteia.
OMIM - 603892
RefSeq - NM_001258353
RefSeq - NM_004247
RefSeq - NM_001142605
RefSeq - NM_001258354
RefSeq Peptide - NP_001245282
RefSeq Peptide - NP_001136077
RefSeq Peptide - NP_004238
RefSeq Peptide - NP_001245283
swissprot - Q15029
swissprot - K7EIT3
swissprot - K7EIV5
swissprot - K7EJ74
swissprot - K7EP67
swissprot - K7EQ26
swissprot - K7ERJ5
Ensembl - ENSG00000108883
  
Related genetic diseases (OMIM): 610536 - Mandibulofacial dysostosis, Guion-Almeida type, 610536
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 eftud2ENSDARG00000012261Danio rerio
 EFTUD2ENSGALG00000000988Gallus gallus
 Eftud2ENSMUSG00000020929Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000640  Elongation factor EFG, domain V-like
 IPR000795  Transcription factor, GTP-binding domain
 IPR004161  Translation elongation factor EFTu-like, domain 2
 IPR005225  Small GTP-binding protein domain
 IPR005517  Translation elongation factor EFG/EF2, domain IV
 IPR009000  Translation protein, beta-barrel domain superfamily
 IPR014721  Ribosomal protein S5 domain 2-type fold, subgroup
 IPR020568  Ribosomal protein S5 domain 2-type fold
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR031950  116kDa U5 small nuclear ribonucleoprotein component, N-terminal
 IPR035647  EF-G domain III/V-like
 IPR035655  116kDa U5 small nuclear ribonucleoprotein component, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000398 mRNA splicing, via spliceosome TAS
 biological_processGO:0006397 mRNA processing TAS
 biological_processGO:0008380 RNA splicing TAS
 biological_processGO:0035690 cellular response to drug IEA
 biological_processGO:0042220 response to cocaine IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005681 spliceosomal complex TAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0015030 Cajal body IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0016607 nuclear speck IDA
 cellular_componentGO:0046540 U4/U6 x U5 tri-snRNP complex IDA
 cellular_componentGO:0071007 U2-type catalytic step 2 spliceosome IDA
 cellular_componentGO:0071013 catalytic step 2 spliceosome IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003924 GTPase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA


Pathways (from Reactome)
Pathway description
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
Show

 HP:0000191 Oral frenula 
Show

 HP:0000243 Trigonocephaly 
Show

 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
Show

 HP:0000253 Microcephaly, progressive "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:curators]
Show

 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
Show

 HP:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
Show

 HP:0000327 Hypoplasia of the maxilla "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson]
Show

 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
Show

 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
Show

 HP:0000384 Preauricular skin tag "A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear)." [HPO:curators]
Show

 HP:0000396 Overfolded helices "A condition in which the upper edge of the ear is folded over to a greater degree than normal." [HPO:curators]
Show

 HP:0000405 Hearing loss, conductive 
Show

 HP:0000413 External auditory canal atresia "Absence or failure to form of the external auditory canal." [HPO:curators]
Show

 HP:0000453 Choanal atresia "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators]
Show

 HP:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
Show

 HP:0000494 Downward slanting palpebral fissures 
Show

 HP:0000506 Telecanthus "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators]
Show

 HP:0000582 Upslanting palpebral fissures 
Show

 HP:0000750 Impaired language development 
Show

 HP:0001177 Preaxial polydactyly (hands) "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:curators]
Show

 HP:0001238 Slender fingers "Digits are disproportionaly narrow (reduced girth)." [HPO:curators]
Show

 HP:0001249 Mental retardation 
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
Show

 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
Show

 HP:0001631 Atrial septal defect "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators]
Show

 HP:0002002 Deep philtrum 
Show

 HP:0002032 Esophageal atresia "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators]
Show

 HP:0002098 Respiratory distress 
Show

 HP:0003196 Nasal hypoplasia "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson]
Show

 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
Show

 HP:0005321 Mandibulofacial dysostosis 
Show

 HP:0005484 Microcephaly, postnatal 
Show

 HP:0008551 Underdeveloped ears 
Show

 HP:0008609 Middle ear malformations 
Show

 HP:0008872 Feeding problems in infancy 
Show

 HP:0009623 Proximally placed thumb "Proximally displaced thumb." [HPO:curators]
Show

 HP:0009738 Abnormal antihelix "An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis." [HPO:curators]
Show

 HP:0009748 Fleshy earlobes "Abnormally thickened or fleshy earlobes." [HPO:curators]
Show

 HP:0011268 Absent tragus "Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix." [pmid:19152421]
Show

 HP:0011272 Underdeveloped tragus "Decreased posterolateral protrusion of the tragus." [pmid:19152421]
Show

 HP:0011800 Midface retrusion "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith]
Show

 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr