FARSB Chromosome 2
Phenylalanyl-tRNA synthetase subunit beta
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What This Gene Does
This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
2q36.1
Ensembl
ENSG00000116120
Associated Conditions (8)
Inborn genetic diseases
Rajab interstitial lung disease with brain calcifications
Cirrhosis of liver
Cerebral calcification
Interstitial pneumonitis
Vascular dilatation
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Rajab interstitial lung disease with brain calcifications 1
Key Variants
RS146807481
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS771751493
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1310042249
Likely pathogenic
Health Risk
RS773579570
Likely pathogenic
Rajab interstitial lung disease with brain calcifications, Rajab interstitial lung disease with brain calcifications
Health Risk
RS1396171148
Pathogenic
Cirrhosis of liver, Cerebral calcification, Interstitial pneumonitis
Health Risk
RS1419129874
Pathogenic
Cirrhosis of liver, Cerebral calcification, Interstitial pneumonitis
Health Risk
RS1466642025
Pathogenic
Cirrhosis of liver, Cerebral calcification, Interstitial pneumonitis
Health Risk
RS1553549333
Pathogenic
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Rajab interstitial lung disease with brain calcifications, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Health Risk
RS1553553086
Pathogenic
Cirrhosis of liver, Cerebral calcification, Interstitial pneumonitis
Health Risk
RS1553554543
Pathogenic
Cirrhosis of liver, Cerebral calcification, Interstitial pneumonitis
Health Risk
RS2106209945
Pathogenic
Rajab interstitial lung disease with brain calcifications 1, Rajab interstitial lung disease with brain calcifications 1
Health Risk
RS2106230623
Pathogenic
Rajab interstitial lung disease with brain calcifications 1, Rajab interstitial lung disease with brain calcifications 1
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146807481 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771751493 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1310042249 | Health Risk | Likely pathogenic | — |
| RS773579570 | Health Risk | Likely pathogenic | Rajab interstitial lung disease with brain calcifications, Rajab interstitial lung disease with brain calcifications |
| RS1396171148 | Health Risk | Pathogenic | Cirrhosis of liver, Cerebral calcification, Interstitial pneumonitis |
| RS1419129874 | Health Risk | Pathogenic | Cirrhosis of liver, Cerebral calcification, Interstitial pneumonitis |
| RS1466642025 | Health Risk | Pathogenic | Cirrhosis of liver, Cerebral calcification, Interstitial pneumonitis |
| RS1553549333 | Health Risk | Pathogenic | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Rajab interstitial lung disease with brain calcifications, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency |
| RS1553553086 | Health Risk | Pathogenic | Cirrhosis of liver, Cerebral calcification, Interstitial pneumonitis |
| RS1553554543 | Health Risk | Pathogenic | Cirrhosis of liver, Cerebral calcification, Interstitial pneumonitis |
| RS2106209945 | Health Risk | Pathogenic | Rajab interstitial lung disease with brain calcifications 1, Rajab interstitial lung disease with brain calcifications 1 |
| RS2106230623 | Health Risk | Pathogenic | Rajab interstitial lung disease with brain calcifications 1, Rajab interstitial lung disease with brain calcifications 1 |
| RS2469435494 | Health Risk | Pathogenic | — |
| RS767956337 | Health Risk | Pathogenic/Likely pathogenic | Rajab interstitial lung disease with brain calcifications, Rajab interstitial lung disease with brain calcifications 1, Rajab interstitial lung disease with brain calcifications |
| RS777071414 | Health Risk | Pathogenic/Likely pathogenic | Rajab interstitial lung disease with brain calcifications, Rajab interstitial lung disease with brain calcifications 1, Rajab interstitial lung disease with brain calcifications |