GenTIGS

Phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2) Associated conditions: 1. Hereditary spastic paraplegia

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001318872.2	NP_001305801.1	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
2	REVIEWED	NM_001374875.1	NP_001361804.1	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
3	REVIEWED	NM_001374876.1	NP_001361805.1	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
4	REVIEWED	NM_001374877.1	NP_001361806.1	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
5	REVIEWED	NM_001374878.1	NP_001361807.1	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
6	REVIEWED	NM_001374879.1	NP_001361808.1	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
7	REVIEWED	NM_001375257.1	NP_001362186.1	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
8	REVIEWED	NM_001375258.1	NP_001362187.1	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
9	REVIEWED	NM_001375259.1	NP_001362188.1	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
10	REVIEWED	NM_001375260.1	NP_001362189.1	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
11	REVIEWED	NM_006567.5	NP_006558.1	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
12	REVIEWED	XR_007059196.1	-	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
13	REVIEWED	XR_007059197.1	-	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
14	REVIEWED	XR_007059198.1	-	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
15	REVIEWED	XR_007059199.1	-	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363
16	REVIEWED	XR_926027.4	-	NC_000006.12	(5249933..5771582)	Reference GRCh38.p14 Primary Assembly	O95363

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 161 reference articles

Variant Information Phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2)

ClinVar variants:Revealing mutagenic patterns

GO Term of Phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	enables	tRNA binding	Function	10329163
2	Homo sapiens	IBA	enables	phenylalanine-tRNA ligase activity	Function	21873635
3	Homo sapiens	IDA	enables	phenylalanine-tRNA ligase activity	Function	10329163
4	Homo sapiens	TAS	enables	phenylalanine-tRNA ligase activity	Function	-
5	Homo sapiens	IPI	enables	protein binding	Function	25416956 31515488 32296183
6	Homo sapiens	IEA	enables	ATP binding	Function	-
7	Homo sapiens	IBA	is_active_in	cytoplasm	Component	21873635
8	Homo sapiens	IBA	is_active_in	mitochondrion	Component	21873635
9	Homo sapiens	ISS	located_in	mitochondrion	Component	-
10	Homo sapiens	TAS	located_in	mitochondrial matrix	Component	-
11	Homo sapiens	TAS	involved_in	tRNA aminoacylation for protein translation	Process	-
12	Homo sapiens	IBA	involved_in	phenylalanyl-tRNA aminoacylation	Process	21873635
13	Homo sapiens	IDA	involved_in	phenylalanyl-tRNA aminoacylation	Process	10329163
14	Homo sapiens	IDA	involved_in	tRNA processing	Process	10329163