ENSG00000178952
Homo sapiens | |
Features
| Gene ID: | ENSG00000178952 | | | | | Biological name : | TUFM | | | | | Synonyms : | P49411 / TUFM / Tu translation elongation factor, mitochondrial | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 16 | | Strand: | -1 | | Band: | p11.2 | | Gene start: | 28842411 | | Gene end: | 28846408 | | | | | Corresponding Affymetrix probe sets: | 201113_at (Human Genome U133 Plus 2.0 Array) 238190_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000322439
Ensembl peptide - ENSP00000455007
NCBI entrez gene - 7284
See in Manteia.
OMIM - 602389
RefSeq - XM_017023619
RefSeq - NM_003321
RefSeq - XM_011545928
RefSeq Peptide - NP_003312
swissprot - P49411
swissprot - H3BNU3
Ensembl - ENSG00000178952
| | | | | Related genetic diseases (OMIM): | 610678 - Combined oxidative phosphorylation deficiency 4, 610678 |
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)
Paralog prediction (from Ensembl)
| EEFSEC / P57772 / eukaryotic elongation factor, selenocysteine-tRNA specific | ENSG00000132394 | 23 |
Protein motifs (from Interpro)
| IPR000795 | Transcription factor, GTP-binding domain | | IPR004160 | Translation elongation factor EFTu/EF1A, C-terminal | | IPR004161 | Translation elongation factor EFTu-like, domain 2 | | IPR004541 | Translation elongation factor EFTu/EF1A, bacterial/organelle | | IPR009000 | Translation protein, beta-barrel domain superfamily | | IPR009001 | Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal | | IPR027417 | P-loop containing nucleoside triphosphate hydrolase | | IPR031157 | Tr-type G domain, conserved site | | IPR033720 | Elongation factor Tu, domain 2 |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| 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] |
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| | 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] |
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| | HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| | HP:0001298 | Encephalopathy | |
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| | HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| | HP:0001511 | Intrauterine growth retardation | |
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| | HP:0001522 | Death in infancy | |
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| | HP:0001942 | Metabolic acidosis | |
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| | HP:0001987 | Hyperammonemia | |
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| | HP:0002126 | Polymicrogyria | "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] |
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| | HP:0002151 | Increased serum lactate | "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators] |
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| | HP:0002179 | Opisthotonus | |
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| | HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| | HP:0002376 | Developmental regression | |
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| | HP:0002878 | Early respiratory failure | |
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| | HP:0003128 | Lactic acidemia | "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson] |
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| | HP:0003593 | Early onset | |
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Interacting proteins (from Reactome)
| ENSG00000123297 | TSFM / P43897 / Ts translation elongation factor, mitochondrial | / complex / reaction |
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