2. Gene
  3. FARS2 - phenylalanyl-tRNA synthetase 2, mitochondrial Gene

FARS2 - phenylalanyl-tRNA synthetase 2, mitochondrial Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as FARS1; PheRS; SPG77; COXPD14; HSPC320; mtPheRS

Gene ID: 10667 | Gene type: protein coding

About FARS2

Cytogenetic location: 6p25.1 Genomic coordinates (GRCh38): 6:5,249,934-5,771,583 (from NCBI)

This gene has 5 transcripts (splice variants), 204 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in thyroid (RPKM 1.7), testis (RPKM 1.6) and 25 other tissues.

Summary

This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

FARS2 Products(11)

mRNA Protein Name
NM_001318872.2 NP_001305801.1 phenylalanine--tRNA ligase, mitochondrial isoform 1
NM_001374875.1 NP_001361804.1 phenylalanine--tRNA ligase, mitochondrial isoform 1
NM_001374876.1 NP_001361805.1 phenylalanine--tRNA ligase, mitochondrial isoform 1
NM_001374877.1 NP_001361806.1 phenylalanine--tRNA ligase, mitochondrial isoform 1
NM_001374878.1 NP_001361807.1 phenylalanine--tRNA ligase, mitochondrial isoform 1
NM_001374879.1 NP_001361808.1 phenylalanine--tRNA ligase, mitochondrial isoform 1
NM_001375257.1 NP_001362186.1 phenylalanine--tRNA ligase, mitochondrial isoform 1
NM_001375258.1 NP_001362187.1 phenylalanine--tRNA ligase, mitochondrial isoform 2
NM_001375259.1 NP_001362188.1 phenylalanine--tRNA ligase, mitochondrial isoform 3
NM_001375260.1 NP_001362189.1 phenylalanine--tRNA ligase, mitochondrial isoform 3
NM_006567.5 NP_006558.1 phenylalanine--tRNA ligase, mitochondrial isoform 1

FARS2 Protein Structure

tRNA-synt_2d

tRNA-synt_2d: tRNA synthetases class II core domain (F) (76 - 198)

tRNA-synt_2d

tRNA-synt_2d: tRNA synthetases class II core domain (F) (242 - 343)

FDX-ACB

FDX-ACB: Ferredoxin-fold anticodon binding domain (358 - 450)

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  • 451 a.a.
Protein Preferred Names Protein Names

phenylalanine--tRNA ligase, mitochondrial

dJ236A3.1 (phenylalanine-tRNA synthetase)

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 14

COXPD14

Combined Oxidative Phosphorylation Defect Type 14

Oxidative Phosphorylation Deficiency, Combined, Type 14
Spastic Paraplegia 77, Autosomal Recessive

SPG77

Hereditary Spastic Paraplegia 77

Autosomal Recessive Spastic Paraplegia 77

Autosomal Recessive Spastic Paraplegia Type 77
Combined Oxidative Phosphorylation Deficiency
Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial
Fars2 Deficiency
Chromosome 6pter-P24 Deletion Syndrome

6p Subtelomeric Deletion Syndrome

6p25 Microdeletion Syndrome

Distal Monosomy 6p

Distal Deletion 6p

Monosomy 6p25
Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Deafness, Autosomal Recessive 94

DFNB94

Autosomal Recessive Nonsyndromic Deafness 94

Autosomal Recessive Deafness 94

Deafness, Autosomal Recessive, 94
Nephrotic Syndrome, Type 2

NPHS2

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1

Nephrotic Syndrome Type 2

Steroid-Resistant Autosomal Recessive Nephrotic Syndrome

Nephrotic Syndrome 2

Autosomal Recessive Steroid-Resistant Nephrotic Syndrome

Srn

Nephrotic Syndrome, Type 2, Susceptibility To

Idiopathic Nephrotic Syndrome
Mitochondrial Dna Depletion Syndrome 4a

Alpers Syndrome

Alpers-Huttenlocher Syndrome

Alpers Progressive Infantile Poliodystrophy

Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

Alpers Disease

Progressive Sclerosing Poliodystrophy

Pndc

Diffuse Cerebral Sclerosis Of Schilder

MTDPS4A

Neuronal Degeneration Of Childhood With Liver Disease, Progressive

Alper'S Syndrome

Alpers' Disease Or Gray-Matter Degeneration

Diffuse Cerebral Degeneration In Infancy

Infantile Poliodystrophy

Poliodystrophia Cerebri Progressiva

Progressive Cerebral Poliodystrophy

Alpers' Disease

Alpers Progressive Sclerosing Poliodystrophy

Progressive Neuronal Degeneration Of Childhood With Liver Disease

Ahs

Mitochondrial Dna Depletion Syndrome 4a Alpers Type

Neuronal Degeneration Of Childhood With Liver Disease Progressive
Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic
Combined Oxidative Phosphorylation Deficiency 12

COXPD12

Ltbl

Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate

Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome

Combined Oxidative Phosphorylation Defect Type 12

Combined Oxidative Phosphorylation Deficiency, Type 12
Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness
Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome
Pontocerebellar Hypoplasia

Pch

Congenital Pontocerebellar Hypoplasia

Opch

Hypoplasia, Pontocerebellar

Pontoneocerebellar Hypoplasia

Nonsyndromic Pontocerebellar Hypoplasia
Spastic Ataxia

Spax

Ataxia, Spastic
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04745 FAR2 Human Pre-designed siRNA Set A / Unkown
HY-RS04748 FARS2 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus FARS2 VGNC VGNC:102423
Bos taurus FARS2 VGNC VGNC:28866
Macaca mulatta FARS2 VGNC VGNC:72545
Mus musculus FARS2 MGD MGI:1917205
Canis familiaris FARS2 VGNC VGNC:40732
Rattus norvegicus FARS2 RGD RGD:1309416