ENSG00000137411
Homo sapiens | |
Features
| Gene ID: | ENSG00000137411 | | | | | Biological name : | VARS2 | | | | | Synonyms : | Q5ST30 / valyl-tRNA synthetase 2, mitochondrial / VARS2 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 6 | | Strand: | 1 | | Band: | p21.33 | | Gene start: | 30908242 | | Gene end: | 30926459 | | | | | Corresponding Affymetrix probe sets: | 203577_at (Human Genome U133 Plus 2.0 Array) 226200_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000316092
Ensembl peptide - ENSP00000485818
Ensembl peptide - ENSP00000441000
Ensembl peptide - ENSP00000416390
Ensembl peptide - ENSP00000403749
NCBI entrez gene - 57176
See in Manteia.
OMIM - 612802
RefSeq - NM_001167733
RefSeq - NM_001167734
RefSeq - NM_020442
RefSeq Peptide - NP_001161206
RefSeq Peptide - NP_065175
RefSeq Peptide - NP_001161205
swissprot - Q5ST30
swissprot - A2ABL6
swissprot - A0A1U9X9B3
swissprot - B7ZCJ6
Ensembl - ENSG00000137411
| | | | | Related genetic diseases (OMIM): | 615917 - Combined oxidative phosphorylation deficiency 20, 615917 |
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)
Protein motifs (from Interpro)
| IPR001412 | Aminoacyl-tRNA synthetase, class I, conserved site | | IPR002300 | Aminoacyl-tRNA synthetase, class Ia | | IPR002303 | Valine-tRNA ligase | | IPR009008 | Valyl/Leucyl/Isoleucyl-tRNA synthetase, editing domain | | IPR009080 | Aminoacyl-tRNA synthetase, class Ia, anticodon-binding | | IPR013155 | Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding | | IPR014729 | Rossmann-like alpha/beta/alpha sandwich fold | | IPR033705 | Valyl tRNA synthetase, anticodon-binding domain |
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:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| | HP:0000590 | External ophthalmoplegia, progressive (PEO) | |
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| | 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] |
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| | HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| | 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] |
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| | HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| | HP:0001999 | Facial dysmorphism | |
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| | HP:0003593 | Early onset | |
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Interacting proteins (from Reactome)
No match
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