ENSG00000104835
Homo sapiens | |
Features
| Gene ID: | ENSG00000104835 | | | | | Biological name : | SARS2 | | | | | Synonyms : | Q9NP81 / SARS2 / seryl-tRNA synthetase 2, mitochondrial | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 19 | | Strand: | -1 | | Band: | q13.2 | | Gene start: | 38915266 | | Gene end: | 38930896 | | | | | Corresponding Affymetrix probe sets: | 218702_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000472339
Ensembl peptide - ENSP00000472847
Ensembl peptide - ENSP00000472576
Ensembl peptide - ENSP00000221431
Ensembl peptide - ENSP00000406754
Ensembl peptide - ENSP00000414954
Ensembl peptide - ENSP00000468865
Ensembl peptide - ENSP00000471767
NCBI entrez gene - 54938
See in Manteia.
OMIM - 612804
RefSeq - NM_001145901
RefSeq - NM_017827
RefSeq Peptide - NP_001139373
RefSeq Peptide - NP_060297
swissprot - M0R2H5
swissprot - B4DJM9
swissprot - Q9NP81
swissprot - M0QWZ7
swissprot - M0QX29
swissprot - M0R1C0
swissprot - M0R259
Ensembl - ENSG00000104835
| | | | | Related genetic diseases (OMIM): | 613845 - Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 |
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)
| IPR002314 | Aminoacyl-tRNA synthetase, class II (G/ P/ S/T) | | IPR002317 | Serine-tRNA ligase, type1 | | IPR006195 | Aminoacyl-tRNA synthetase, class II | | IPR010978 | Class I and II aminoacyl-tRNA synthetase, tRNA-binding arm | | IPR033729 | Serine-tRNA ligase catalytic core 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:0000093 | Proteinuria | |
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| | HP:0000103 | Polyuria | |
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| | HP:0000127 | Renal salt wasting | |
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| | HP:0000819 | Diabetes mellitus | |
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| | HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| | HP:0001508 | Failure to thrive | |
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| | HP:0001622 | Premature birth | |
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| | HP:0001873 | Thrombocytopenia | |
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| | HP:0001882 | Leukopenia | |
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| | HP:0001903 | Anemia | |
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| | HP:0002092 | Pulmonary hypertension | |
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| | HP:0002149 | Hyperuricemia | "An abnormally high level of uric acid in the blood." [HPO:curators] |
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| | HP:0002878 | Early respiratory failure | |
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| | HP:0002902 | Hyponatremia | |
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| | HP:0002917 | Hypomagnesemia | |
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| | HP:0003554 | Type 2 muscle fiber atrophy | "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy." [HPO:curators] |
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| | HP:0003593 | Early onset | |
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| | HP:0004719 | enlarged, hyperechogenic kidneys | |
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| | HP:0005977 | Hypochloremic metabolic alkalosis | |
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| | HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| | HP:0012622 | Chronic kidney disease | "Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl] |
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Interacting proteins (from Reactome)
| ENSG00000104835 | SARS2 / Q9NP81 / seryl-tRNA synthetase 2, mitochondrial | / complex |
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