MFN2 (mitofusin 2) - Rat Genome Database

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Gene: MFN2 (mitofusin 2) Homo sapiens
Symbol: MFN2
Name: mitofusin 2
RGD ID: 732569
Description: Exhibits ubiquitin protein ligase binding activity. Involved in several processes, including mitochondrion organization; positive regulation of vascular associated smooth muscle cell apoptotic process; and positive regulation of vascular associated smooth muscle cell proliferation. Localizes to mitochondrion. Implicated in Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease type 2A2A; Charcot-Marie-Tooth disease type 2A2B; and Charcot-Marie-Tooth disease type 6. Biomarker of Alzheimer's disease; obesity; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1; HMSN6A; HSG; hyperplasia suppressor; KIAA0214; MARF; mitochondrial assembly regulatory factor; mitofusin-2; transmembrane GTPase MFN2
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl111,980,181 - 12,013,514 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl111,980,181 - 12,015,211 (+)EnsemblGRCh38hg38GRCh38
GRCh38111,980,215 - 12,013,508 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37112,040,501 - 12,073,565 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,962,956 - 11,996,152 (+)NCBINCBI36hg18NCBI36
Build 34111,974,634 - 12,007,833NCBI
Celera111,153,903 - 11,187,236 (+)NCBI
Cytogenetic Map1p36.22NCBI
HuRef111,195,001 - 11,228,266 (+)NCBIHuRef
CHM1_1112,028,020 - 12,061,326 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
Acute Lung Injury  (ISO)
alopecia  (IAGP)
Alzheimer's disease  (IEP,ISO)
Blister  (IAGP)
Cardiac Fibrosis  (ISO)
Cardiomegaly  (EXP,ISO)
carotid stenosis  (ISO)
cerebellar ataxia  (IAGP)
Charcot-Marie-Tooth disease  (IAGP)
Charcot-Marie-Tooth disease type 1  (IAGP)
Charcot-Marie-Tooth disease type 2  (IAGP)
Charcot-Marie-Tooth Disease Type 2A2  (EXP,IAGP)
Charcot-Marie-Tooth disease type 2A2A  (IAGP)
Charcot-Marie-Tooth disease type 2A2B  (IAGP)
Charcot-Marie-Tooth disease type 4  (IAGP)
Charcot-Marie-Tooth disease type 6  (EXP,IAGP)
Charcot-Marie-Tooth Disease Type 6A  (IAGP)
Charcot-Marie-Tooth Disease, Type 2A  (IAGP)
Cicatrix  (IAGP)
Diabetic Nephropathies  (EXP,ISO)
diabetic retinopathy  (ISO)
dilated cardiomyopathy  (ISO)
distal hereditary motor neuronopathy type 7B  (IAGP)
distal myopathy  (IAGP)
Dwarfism  (IAGP)
Ehlers-Danlos syndrome kyphoscoliotic type 1  (IAGP)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (ISO)
Failure to Thrive  (IAGP)
fatty liver disease  (ISO)
genetic disease  (IAGP)
Hyperalgesia  (EXP,ISO)
hypertension  (ISO)
Insulin Resistance  (ISO)
Liver Reperfusion Injury  (ISO)
Manganese Poisoning  (ISO)
mental depression  (ISO)
methylmalonic acidemia cblA type  (IAGP)
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency  (IAGP)
microcephaly  (IAGP)
motor peripheral neuropathy  (IAGP)
myocardial infarction  (ISO)
Myocardial Ischemia  (ISO)
Myocardial Reperfusion Injury  (ISO)
non-alcoholic fatty liver disease  (ISO)
nonprogressive cerebellar ataxia with mental retardation  (IAGP)
nonsyndromic congenital nail disorder 9  (IAGP)
obesity  (IEP,ISO)
prediabetes syndrome  (ISO)
Pulmonary Edema of Mountaineers  (ISO)
pulmonary fibrosis  (ISO)
Pulmonary Hypertension, Hypoxia-Induced  (ISO)
Sarcopenia  (ISO)
Sepsis  (ISO)
Spinal Cord Injuries  (ISO)
Tooth Abnormalities  (IAGP)
transient cerebral ischemia  (ISO)
type 2 diabetes mellitus  (IEP)
Ventricular Remodeling  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-tert-butylhydroquinone  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-DAMP(1+)  (ISO)
5-fluorouracil  (EXP)
5-methyl-4-oxido-2-pyrazin-4-iumcarboxylic acid  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
AICA ribonucleotide  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (ISO)
alloxan  (ISO)
alpha-D-galactose  (EXP,ISO)
AM-251  (EXP)
amiodarone  (ISO)
amlodipine  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
arsenous acid  (ISO)
atorvastatin calcium  (ISO)
azide  (EXP)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
butanal  (EXP)
cadmium atom  (ISO)
Calpeptin  (EXP,ISO)
Candesartan cilexetil  (ISO)
carnosic acid  (EXP)
cisplatin  (ISO)
cobalt dichloride  (EXP)
corticosterone  (ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
diarsenic trioxide  (ISO)
diclofenac  (ISO)
dioxygen  (ISO)
dorsomorphin  (ISO)
doxorubicin  (EXP,ISO)
efavirenz  (EXP)
entinostat  (EXP)
ethanol  (ISO)
excitatory amino acid agonist  (EXP,ISO)
ferulic acid  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
galactose  (EXP,ISO)
Genipin  (ISO)
genistein  (EXP)
gentamycin  (ISO)
ginsenoside Rg1  (ISO)
glafenine  (ISO)
glucose  (ISO)
GW 4064  (ISO)
hydrogen peroxide  (ISO)
isoprenaline  (ISO)
lamivudine  (ISO)
linuron  (ISO)
lovastatin  (ISO)
mabuterol  (ISO)
manganese(II) chloride  (ISO)
melatonin  (ISO)
metformin  (ISO)
methapyrilene  (EXP)
N-acetyl-L-cysteine  (ISO)
N-acetylsphingosine  (ISO)
N-hexadecanoylsphingosine  (ISO)
nitrogen dioxide  (ISO)
NSC 23766  (ISO)
okadaic acid  (ISO)
oxidopamine  (EXP)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
perindopril  (ISO)
phenethyl caffeate  (ISO)
phenylephrine  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pyrroloquinoline quinone  (EXP,ISO)
reactive oxygen species  (EXP,ISO)
resveratrol  (EXP,ISO)
rotenone  (EXP,ISO)
ruthenium red  (ISO)
Salvianolic acid A  (ISO)
sevoflurane  (ISO)
silicon dioxide  (ISO)
streptozocin  (ISO)
sulfur dioxide  (ISO)
tamoxifen  (ISO)
tauroursodeoxycholic acid  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
titanium dioxide  (ISO)
trans-cinnamic acid  (ISO)
trichloroethene  (ISO)
Triptolide  (ISO)
valproic acid  (EXP)
zearalenone  (EXP)
zidovudine  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA)
blastocyst formation  (IEA,ISO)
blood coagulation  (TAS)
camera-type eye morphogenesis  (IEA,ISO)
cellular response to dexamethasone stimulus  (ISO)
cellular response to glucose stimulus  (ISO)
cellular response to hypoxia  (ISO)
cellular response to ionizing radiation  (ISO)
cellular response to L-glutamate  (ISO)
cellular response to low-density lipoprotein particle stimulus  (ISO)
cellular response to manganese ion  (ISO)
cellular response to mercaptoethanol  (ISO)
cellular response to oxygen-glucose deprivation  (ISO)
cellular response to testosterone stimulus  (ISO)
intracellular distribution of mitochondria  (ISO)
macroautophagy  (TAS)
male gonad development  (ISO)
mitochondrial calcium ion homeostasis  (ISO)
mitochondrial fusion  (IBA,IEA,IMP,ISO,ISS,NAS)
mitochondrial membrane organization  (IDA)
mitochondrion localization  (IBA,IDA)
mitochondrion morphogenesis  (ISO)
mitochondrion organization  (ISO)
mitotic cell cycle  (ISO)
negative regulation of cardiac muscle cell apoptotic process  (ISO)
negative regulation of cell cycle  (ISO)
negative regulation of cell death  (ISO)
negative regulation of cell population proliferation  (ISO)
negative regulation of cell size  (ISO)
negative regulation of glial cell proliferation  (ISO)
negative regulation of mitochondrial fission  (ISO)
negative regulation of neuron death  (ISO)
negative regulation of Ras protein signal transduction  (IDA)
negative regulation of reactive oxygen species biosynthetic process  (ISO)
negative regulation of release of cytochrome c from mitochondria  (ISO)
negative regulation of sarcomere organization  (ISO)
negative regulation of smooth muscle cell proliferation  (IEA,ISS)
negative regulation of vascular associated smooth muscle cell proliferation  (ISO)
parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization  (ISS)
positive regulation of cellular respiration  (ISO)
positive regulation of chromatin binding  (ISO)
positive regulation of cold-induced thermogenesis  (ISS)
positive regulation of dendritic spine morphogenesis  (ISO)
positive regulation of estradiol secretion  (ISO)
positive regulation of gene expression  (ISO)
positive regulation of glucose import  (ISO)
positive regulation of hydrogen peroxide biosynthetic process  (ISO)
positive regulation of insulin receptor signaling pathway  (ISO)
positive regulation of mitochondrial membrane potential  (ISO)
positive regulation of ovarian follicle development  (ISO)
positive regulation of progesterone secretion  (ISO)
positive regulation of reactive oxygen species biosynthetic process  (ISO)
positive regulation of vascular associated smooth muscle cell apoptotic process  (IMP)
positive regulation of vascular associated smooth muscle cell proliferation  (IMP)
protein targeting to mitochondrion  (IDA)
regulation of cell cycle  (ISS)
response to axon injury  (ISO)
response to cadmium ion  (ISO)
response to calcium ion  (ISO)
response to D-galactose  (ISO)
response to electrical stimulus  (ISO)
response to fatty acid  (ISO)
response to flavonoid  (ISO)
response to hypobaric hypoxia  (ISO)
response to L-arginine  (ISO)
response to muscle activity  (ISO)
response to nutrient levels  (ISO)
response to testosterone  (ISO)
response to unfolded protein  (IEA)
spermatogenesis  (ISO)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal blistering of the skin  (IAGP)
Abnormality of dental enamel  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the spinal cord  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Absent Achilles reflex  (IAGP)
Absent patellar reflexes  (IAGP)
Alopecia of scalp  (IAGP)
Anosmia  (IAGP)
Areflexia  (IAGP)
Arthralgia  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axonal degeneration/regeneration  (IAGP)
Babinski sign  (IAGP)
Central scotoma  (IAGP)
Color vision defect  (IAGP)
Decreased body weight  (IAGP)
Decreased motor nerve conduction velocity  (IAGP)
Decreased number of peripheral myelinated nerve fibers  (IAGP)
Decreased sensory nerve conduction velocity  (IAGP)
Delayed gross motor development  (IAGP)
Difficulty climbing stairs  (IAGP)
Difficulty running  (IAGP)
Difficulty walking  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Distal sensory impairment  (IAGP)
Distal sensory impairment of all modalities  (IAGP)
Dysmetric saccades  (IAGP)
Dysphonia  (IAGP)
EMG abnormality  (IAGP)
EMG: chronic denervation signs  (IAGP)
Failure to thrive  (IAGP)
Flexion contracture  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Foot pain  (IAGP)
Frequent falls  (IAGP)
Gait disturbance  (IAGP)
Hammertoe  (IAGP)
Hand muscle weakness  (IAGP)
Hand tremor  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Hoarse voice  (IAGP)
Hydrocephalus  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Hyporeflexia  (IAGP)
Impaired pain sensation  (IAGP)
Impaired temperature sensation  (IAGP)
Impaired vibratory sensation  (IAGP)
Inability to walk by childhood/adolescence  (IAGP)
Incomplete penetrance  (IAGP)
Increased laxity of ankles  (IAGP)
Infantile onset  (IAGP)
Insulin resistance  (IAGP)
Joint stiffness  (IAGP)
Kyphosis  (IAGP)
Limb muscle weakness  (IAGP)
Lumbar hyperlordosis  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Multiple lipomas  (IAGP)
Muscle spasm  (IAGP)
Nail dystrophy  (IAGP)
Nyctalopia  (IAGP)
Onion bulb formation  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Pain  (IAGP)
Paresis of extensor muscles of the big toe  (IAGP)
Paresthesia  (IAGP)
Peripheral axonal atrophy  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Poor fine motor coordination  (IAGP)
Positive Romberg sign  (IAGP)
Postural tremor  (IAGP)
Proximal muscle weakness  (IAGP)
Quadriceps muscle weakness  (IAGP)
Reduced tendon reflexes  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Restless legs  (IAGP)
Scarring  (IAGP)
Scarring alopecia of scalp  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory axonal neuropathy  (IAGP)
Short stature  (IAGP)
Slow decrease in visual acuity  (IAGP)
Slowly progressive  (IAGP)
Spasticity  (IAGP)
Steppage gait  (IAGP)
Tinnitus  (IAGP)
Tremor  (IAGP)
Triceps weakness  (IAGP)
Upper limb pain  (IAGP)
Variable expressivity  (IAGP)
Vocal cord paralysis  (IAGP)
Vocal cord paresis  (IAGP)

References - curated
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Additional References at PubMed
PMID:9039502   PMID:11181170   PMID:11950885   PMID:12477932   PMID:12499352   PMID:12759376   PMID:14702039   PMID:15382611   PMID:15489334   PMID:15549395   PMID:15829499   PMID:15878861  
PMID:15961417   PMID:16043786   PMID:16083859   PMID:16087932   PMID:16160866   PMID:16710414   PMID:16762064   PMID:16936636   PMID:17121834   PMID:17215403   PMID:17309650   PMID:17437620  
PMID:17537722   PMID:17697539   PMID:17718388   PMID:17828388   PMID:17874344   PMID:17940179   PMID:18092941   PMID:18316077   PMID:18336293   PMID:18425620   PMID:18458227   PMID:18480994  
PMID:18490623   PMID:18946002   PMID:18957892   PMID:18974884   PMID:19052620   PMID:19168699   PMID:19427854   PMID:19618221   PMID:19690333   PMID:19754948   PMID:19812251   PMID:19889647  
PMID:20008656   PMID:20032281   PMID:20163430   PMID:20193559   PMID:20301462   PMID:20301532   PMID:20301684   PMID:20335458   PMID:20339081   PMID:20350294   PMID:20418531   PMID:20514460  
PMID:20530328   PMID:20580691   PMID:20587496   PMID:20654126   PMID:20661427   PMID:20803103   PMID:20804729   PMID:20819609   PMID:20871098   PMID:20877624   PMID:20936726   PMID:20940517  
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PMID:21987543   PMID:22139419   PMID:22189565   PMID:22253285   PMID:22438978   PMID:22442078   PMID:22510407   PMID:22526351   PMID:22546700   PMID:22653593   PMID:22658674   PMID:22748923  
PMID:22762946   PMID:22778543   PMID:22926664   PMID:22957060   PMID:23060438   PMID:23455425   PMID:23498974   PMID:23503661   PMID:23549803   PMID:23588792   PMID:23601695   PMID:23620051  
PMID:23727017   PMID:23831624   PMID:23906296   PMID:23921378   PMID:23929728   PMID:23941871   PMID:24023840   PMID:24081906   PMID:24126688   PMID:24282027   PMID:24361166   PMID:24503793  
PMID:24662494   PMID:24819634   PMID:24862862   PMID:24863639   PMID:24928385   PMID:25008184   PMID:25064321   PMID:25541060   PMID:25567790   PMID:25781899   PMID:25796500   PMID:25870285  
PMID:25915564   PMID:25921289   PMID:26085578   PMID:26114802   PMID:26143526   PMID:26186194   PMID:26210454   PMID:26307536   PMID:26378787   PMID:26446920   PMID:26566676   PMID:26581383  
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PMID:27862672   PMID:28053050   PMID:28057766   PMID:28063088   PMID:28132466   PMID:28176801   PMID:28215578   PMID:28215760   PMID:28380382   PMID:28406974   PMID:28414270   PMID:28513770  
PMID:28514442   PMID:28539390   PMID:28660751   PMID:28729638   PMID:28943312   PMID:29180619   PMID:29212658   PMID:29341354   PMID:29358849   PMID:29363649   PMID:29436693   PMID:29491355  
PMID:29564676   PMID:29587277   PMID:29661855   PMID:29676259   PMID:29749475   PMID:29848692   PMID:29874585   PMID:29880838   PMID:29921586   PMID:30058380   PMID:30061179   PMID:30158064  
PMID:30217973   PMID:30316324   PMID:30442897   PMID:30555077   PMID:30593438   PMID:30614327   PMID:30649465   PMID:30873819   PMID:30887444   PMID:30922813   PMID:30932749   PMID:30940795  
PMID:30981108   PMID:30987827   PMID:31036292   PMID:31091453   PMID:31127728   PMID:31198013   PMID:31251111   PMID:31295012   PMID:31322173   PMID:31416892   PMID:31453851   PMID:31557386  
PMID:31586073   PMID:31664033   PMID:31955176   PMID:32377725   PMID:32694731   PMID:32877691   PMID:33074106   PMID:33454007  


Candidate Gene Status
MFN2 is a candidate Gene for QTL SGHRL1_H
Comparative Map Data
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl111,980,181 - 12,013,514 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl111,980,181 - 12,015,211 (+)EnsemblGRCh38hg38GRCh38
GRCh38111,980,215 - 12,013,508 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37112,040,501 - 12,073,565 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,962,956 - 11,996,152 (+)NCBINCBI36hg18NCBI36
Build 34111,974,634 - 12,007,833NCBI
Celera111,153,903 - 11,187,236 (+)NCBI
Cytogenetic Map1p36.22NCBI
HuRef111,195,001 - 11,228,266 (+)NCBIHuRef
CHM1_1112,028,020 - 12,061,326 (+)NCBICHM1_1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm394147,958,043 - 147,989,527 (-)NCBIGRCm39mm39
GRCm39 Ensembl4147,958,056 - 147,989,161 (-)Ensembl
GRCm384147,873,586 - 147,904,909 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4147,873,599 - 147,904,704 (-)EnsemblGRCm38mm10GRCm38
MGSCv374147,247,704 - 147,278,928 (-)NCBIGRCm37mm9NCBIm37
MGSCv364146,717,399 - 146,748,504 (-)NCBImm8
Celera4150,136,809 - 150,169,620 (-)NCBICelera
Cytogenetic Map4E1NCBI
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
mRatBN7.25158,304,285 - 158,335,502 (-)NCBI
Rnor_6.0 Ensembl5164,684,509 - 164,714,145 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05164,684,244 - 164,715,414 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05168,342,707 - 168,373,926 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45164,951,252 - 164,980,763 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15164,961,175 - 164,992,083 (-)NCBI
Celera5156,587,853 - 156,617,496 (-)NCBICelera
Cytogenetic Map5q36NCBI
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
ChiLan1.0 EnsemblNW_0049554861,937,802 - 1,962,772 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554861,937,873 - 1,962,577 (-)NCBIChiLan1.0