ENSG00000065427
Homo sapiens | |
Features
| Gene ID: | ENSG00000065427 | | | | | Biological name : | KARS | | | | | Synonyms : | KARS / lysyl-tRNA synthetase / Q15046 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 16 | | Strand: | -1 | | Band: | q23.1 | | Gene start: | 75627474 | | Gene end: | 75648643 | | | | | Corresponding Affymetrix probe sets: | 200079_s_at (Human Genome U133 Plus 2.0 Array) 200840_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000462057
Ensembl peptide - ENSP00000456786
Ensembl peptide - ENSP00000458028
Ensembl peptide - ENSP00000303043
Ensembl peptide - ENSP00000325448
Ensembl peptide - ENSP00000454512
Ensembl peptide - ENSP00000455488
Ensembl peptide - ENSP00000455818
Ensembl peptide - ENSP00000456185
NCBI entrez gene - 3735
See in Manteia.
OMIM - 601421
RefSeq - XM_017023217
RefSeq - NM_001130089
RefSeq - NM_005548
RefSeq Peptide - NP_001123561
RefSeq Peptide - NP_005539
swissprot - H3BVA8
swissprot - J3KRL2
swissprot - Q15046
swissprot - H3BMR9
swissprot - H3BPV7
swissprot - H3BRC9
swissprot - H3BQK5
swissprot - H3BSN6
Ensembl - ENSG00000065427
| | | | | Related genetic diseases (OMIM): | 613641 - ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 | | | 613916 - Deafness, autosomal recessive 89, 613916 |
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)
No match
Protein motifs (from Interpro)
| IPR002313 | Lysine-tRNA ligase, class II | | IPR004364 | Aminoacyl-tRNA synthetase, class II (D/K/N) | | IPR004365 | OB-fold nucleic acid binding domain, AA-tRNA synthetase-type | | IPR006195 | Aminoacyl-tRNA synthetase, class II | | IPR012340 | Nucleic acid-binding, OB-fold | | IPR018149 | Lysyl-tRNA synthetase, class II, C-terminal | | IPR034762 | Bacterial/eukaryotic lysine-tRNA ligase, class II |
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] |
Show
| | HP:0000365 | Hearing loss | |
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:0001265 | Hyporeflexia | |
Show
| | HP:0001284 | Areflexia | |
Show
| | HP:0001761 | Pes cavus | |
Show
| | HP:0002936 | Distal sensory impairment | |
Show
| | HP:0003376 | Steppage gait | "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:curators] |
Show
| | HP:0009027 | Foot dorsiflexor weakness | |
Show
| | HP:0009588 | Vestibular Schwannoma | "A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear." [HPO:curators] |
Show
|
Interacting proteins (from Reactome)
0 s.
|
