MYL9 (myosin light chain 9) - Rat Genome Database

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Gene: MYL9 (myosin light chain 9) Homo sapiens
Analyze
Symbol: MYL9
Name: myosin light chain 9
RGD ID: 1322585
HGNC Page HGNC:15754
Description: Predicted to enable calcium ion binding activity. Involved in platelet aggregation. Predicted to be located in cytosol. Predicted to be part of muscle myosin complex. Predicted to be active in myofibril and stress fiber. Implicated in familial hypertrophic cardiomyopathy and megacystis-microcolon-intestinal hypoperistalsis syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 20 kDa myosin light chain; LC20; MGC3505; MLC-2C; MLC2; MMIHS4; MRLC1; myosin regulatory light chain 1; myosin regulatory light chain 2, smooth muscle isoform; myosin regulatory light chain 9; myosin regulatory light chain MRLC1; myosin regulatory light polypeptide 9; myosin RLC; myosin, light chain 9, regulatory; myosin, light polypeptide 9, regulatory; MYRL2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100130582   LOC101059972  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382036,541,519 - 36,551,447 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2036,541,497 - 36,551,447 (+)EnsemblGRCh38hg38GRCh38
GRCh372035,169,922 - 35,179,850 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362034,603,311 - 34,611,640 (+)NCBINCBI36Build 36hg18NCBI36
Build 342034,603,310 - 34,611,640NCBI
Celera2031,876,955 - 31,885,284 (+)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2031,906,489 - 31,914,828 (+)NCBIHuRef
CHM1_12035,071,604 - 35,079,943 (+)NCBICHM1_1
T2T-CHM13v2.02038,265,393 - 38,275,321 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
Aescin  (ISO)
aflatoxin B1  (EXP)
alendronic acid  (ISO)
all-trans-retinoic acid  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Arg-Gly-Asp  (EXP)
argipressin  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
butan-1-ol  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
calmidazolium  (ISO)
calyculin a  (ISO)
captan  (ISO)
carbachol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
cholic acid  (ISO)
choline  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
clotrimazole  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
Cyanoginosin  (ISO)
cyclosporin A  (EXP)
D-mannitol  (ISO)
decabromodiphenyl ether  (EXP)
deoxynivalenol  (ISO)
desmopressin  (ISO)
dextran sulfate  (ISO)
dibenziodolium  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
Didecyldimethylammonium  (EXP)
diethyl malate  (ISO)
dioxygen  (EXP,ISO)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
farnesol  (EXP)
fenamidone  (ISO)
folic acid  (ISO)
folpet  (ISO)
furan  (ISO)
geranylgeraniol  (EXP)
ginsenoside Re  (ISO)
glycodeoxycholic acid  (ISO)
graphene oxide  (ISO)
guanosine 5'-[gamma-thio]triphosphate  (ISO)
indoxyl sulfate  (ISO)
ionomycin  (ISO)
isobutanol  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
maneb  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
microcystin-LR  (EXP)
ML-7  (EXP,ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel subsulfide  (ISO)
nifedipine  (ISO)
Octicizer  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phlorizin  (ISO)
phorbol 12,13-dibutanoate  (ISO)
pioglitazone  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
quercitrin  (EXP)
rac-lactic acid  (EXP)
raloxifene  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
SKF-96365 hydrochloride  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
temozolomide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triadimefon  (EXP)
triclosan  (EXP)
trifluoperazine  (ISO)
Triptolide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
Y-27632  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice. Szczesna-Cordary D, etal., J Cell Sci. 2005 Aug 15;118(Pt 16):3675-83. Epub 2005 Aug 2.
Additional References at PubMed
PMID:2526655   PMID:11283256   PMID:11780052   PMID:11942626   PMID:12477932   PMID:14627618   PMID:14702039   PMID:16169070   PMID:18480596   PMID:19724058   PMID:19794400   PMID:20308539  
PMID:20473970   PMID:20876399   PMID:21251247   PMID:21873635   PMID:22266860   PMID:22863883   PMID:23382103   PMID:23538510   PMID:24084383   PMID:24189459   PMID:24338276   PMID:24510904  
PMID:25179839   PMID:25277244   PMID:25609649   PMID:25963833   PMID:26344197   PMID:26618866   PMID:27104745   PMID:27371349   PMID:28378594   PMID:28388691   PMID:29453416   PMID:29735542  
PMID:29845934   PMID:30833792   PMID:30979931   PMID:31091453   PMID:31270134   PMID:31324722   PMID:31501420   PMID:31586073   PMID:32296183   PMID:33144569   PMID:33194618   PMID:33545068  
PMID:33584659   PMID:33644029   PMID:33762435   PMID:33947818   PMID:33961781   PMID:34427648   PMID:34551701   PMID:34729929   PMID:34821071   PMID:34911847   PMID:34974798   PMID:35013218  
PMID:35271311   PMID:35338135   PMID:35676659   PMID:35895716   PMID:35906200   PMID:36217030   PMID:36470425   PMID:36574265   PMID:36685558   PMID:36736316   PMID:37801199   PMID:37926835  
PMID:37950670  


Genomics

Comparative Map Data
MYL9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382036,541,519 - 36,551,447 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2036,541,497 - 36,551,447 (+)EnsemblGRCh38hg38GRCh38
GRCh372035,169,922 - 35,179,850 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362034,603,311 - 34,611,640 (+)NCBINCBI36Build 36hg18NCBI36
Build 342034,603,310 - 34,611,640NCBI
Celera2031,876,955 - 31,885,284 (+)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2031,906,489 - 31,914,828 (+)NCBIHuRef
CHM1_12035,071,604 - 35,079,943 (+)NCBICHM1_1
T2T-CHM13v2.02038,265,393 - 38,275,321 (+)NCBIT2T-CHM13v2.0
Myl9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392156,617,373 - 156,623,578 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2156,617,340 - 156,623,578 (+)EnsemblGRCm39 Ensembl
GRCm382156,775,408 - 156,781,657 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2156,775,420 - 156,781,658 (+)EnsemblGRCm38mm10GRCm38
MGSCv372156,601,200 - 156,607,393 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362156,466,480 - 156,473,099 (+)NCBIMGSCv36mm8
Celera2162,711,261 - 162,717,300 (+)NCBICelera
Cytogenetic Map2H1NCBI
cM Map277.77NCBI
Myl9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83165,742,020 - 165,748,409 (+)NCBIGRCr8
mRatBN7.23145,281,943 - 145,288,333 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3145,281,937 - 145,288,333 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3149,147,449 - 149,153,815 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03157,764,308 - 157,770,672 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03155,503,588 - 155,509,943 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03152,857,573 - 152,863,961 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3152,857,592 - 152,863,960 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03158,832,628 - 158,839,014 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43147,190,252 - 147,193,865 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13147,083,685 - 147,099,304 (+)NCBI
Celera3144,001,709 - 144,005,322 (+)NCBICelera
Cytogenetic Map3q42NCBI
Myl9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542225,074,129 - 25,084,840 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542225,078,011 - 25,084,853 (-)NCBIChiLan1.0ChiLan1.0
MYL9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22142,279,928 - 42,288,524 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12042,273,027 - 42,281,623 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02032,875,033 - 32,883,444 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12033,993,483 - 34,001,850 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2033,993,482 - 34,001,850 (+)Ensemblpanpan1.1panPan2
MYL9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12425,322,800 - 25,329,937 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2425,322,800 - 25,329,932 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2424,968,470 - 24,975,583 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02426,016,251 - 26,023,373 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2426,016,254 - 26,026,256 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12425,298,835 - 25,305,944 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02425,393,729 - 25,400,833 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02425,884,650 - 25,891,763 (+)NCBIUU_Cfam_GSD_1.0
Myl9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640174,264,092 - 174,271,149 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365614,475,021 - 4,485,463 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365614,478,400 - 4,485,457 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYL9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1739,788,199 - 39,795,293 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11739,788,165 - 39,795,240 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21745,264,926 - 45,272,001 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MYL9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1257,397,836 - 57,405,856 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl257,397,874 - 57,406,630 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660873,890,131 - 3,898,141 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Myl9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248422,975,987 - 2,982,953 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248422,975,992 - 2,982,956 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MYL9
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] Chr20:34541747..39663219 [GRCh38]
Chr20:33129551..38291861 [GRCh37]
Chr20:32593212..37725275 [NCBI36]
Chr20:20q11.22-12
pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11
pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12
pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1 copy number loss See cases [RCV000135440] Chr20:33432363..36821881 [GRCh38]
Chr20:32020169..35450284 [GRCh37]
Chr20:31483830..34883698 [NCBI36]
Chr20:20q11.21-11.23
pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NC_000020.11:g.36548744_36555707del deletion Visceral myopathy 1 [RCV000625523] Chr20:36548744..36555707 [GRCh38]
Chr20:35177147..35184110 [GRCh37]
Chr20:20q11.23
likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13
likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_006097.5(MYL9):c.184+2_184+10del deletion Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 [RCV001523898]|Visceral myopathy 1 [RCV001009609] Chr20:36545064..36545072 [GRCh38]
Chr20:35173467..35173475 [GRCh37]
Chr20:20q11.23
pathogenic|uncertain significance
GRCh37/hg19 20q11.23(chr20:35177459-35178246)x1 copy number loss Visceral myopathy 1 [RCV001009610] Chr20:35177459..35178246 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_006097.5(MYL9):c.445G>C (p.Asp149His) single nucleotide variant not provided [RCV002224170] Chr20:36549175 [GRCh38]
Chr20:35177578 [GRCh37]
Chr20:20q11.23
uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 copy number gain not provided [RCV002475651] Chr20:29652122..35603726 [GRCh37]
Chr20:20q11.21-11.23
likely pathogenic
NM_006097.5(MYL9):c.431G>A (p.Arg144Gln) single nucleotide variant Inborn genetic diseases [RCV002665157] Chr20:36549161 [GRCh38]
Chr20:35177564 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_006097.5(MYL9):c.510A>C (p.Lys170Asn) single nucleotide variant Inborn genetic diseases [RCV002767187] Chr20:36549240 [GRCh38]
Chr20:35177643 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_006097.5(MYL9):c.511G>C (p.Asp171His) single nucleotide variant Inborn genetic diseases [RCV002702816] Chr20:36549241 [GRCh38]
Chr20:35177644 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_006097.5(MYL9):c.326G>C (p.Cys109Ser) single nucleotide variant Inborn genetic diseases [RCV002934634] Chr20:36548173 [GRCh38]
Chr20:35176576 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_006097.5(MYL9):c.316G>A (p.Ala106Thr) single nucleotide variant Inborn genetic diseases [RCV002961445] Chr20:36548163 [GRCh38]
Chr20:35176566 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_006097.5(MYL9):c.298G>A (p.Glu100Lys) single nucleotide variant Inborn genetic diseases [RCV002657278] Chr20:36548145 [GRCh38]
Chr20:35176548 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_006097.5(MYL9):c.134G>A (p.Arg45His) single nucleotide variant Inborn genetic diseases [RCV003209349] Chr20:36545018 [GRCh38]
Chr20:35173421 [GRCh37]
Chr20:20q11.23
uncertain significance
NM_006097.5(MYL9):c.290C>T (p.Thr97Met) single nucleotide variant Inborn genetic diseases [RCV003178595] Chr20:36548137 [GRCh38]
Chr20:35176540 [GRCh37]
Chr20:20q11.23
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:862
Count of miRNA genes:320
Interacting mature miRNAs:346
Transcripts:ENST00000279022, ENST00000346786
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH91464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,178,020 - 35,178,162UniSTSGRCh37
GRCh372035,177,287 - 35,178,162UniSTSGRCh37
Build 362034,611,434 - 34,611,576RGDNCBI36
Celera2031,884,345 - 31,885,220UniSTS
Celera2031,885,078 - 31,885,220RGD
Cytogenetic Map20q11.23UniSTS
HuRef2031,914,622 - 31,914,764UniSTS
HuRef2031,913,889 - 31,914,764UniSTS
GeneMap99-GB4 RH Map20203.09UniSTS
RH75828  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map20q11.23UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1658 1518 20 2 47 2 958 906 157 21 424 65 169 823
Medium 705 1247 1661 582 1213 422 3353 1257 2840 380 1002 1430 173 1 1035 1965 4 2
Low 56 219 38 37 543 38 19 10 707 12 25 55 1 2
Below cutoff 14 5 3 2 78 2 11 7 6 4 2 29

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF176042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF176043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL697699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ953325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D82057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000279022   ⟹   ENSP00000279022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,541,519 - 36,551,447 (+)Ensembl
RefSeq Acc Id: ENST00000346786   ⟹   ENSP00000217313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,541,497 - 36,549,825 (+)Ensembl
RefSeq Acc Id: NM_006097   ⟹   NP_006088
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,541,519 - 36,551,447 (+)NCBI
GRCh372035,169,887 - 35,178,226 (+)NCBI
Build 362034,603,311 - 34,611,640 (+)NCBI Archive
Celera2031,876,955 - 31,885,284 (+)RGD
HuRef2031,906,489 - 31,914,828 (+)NCBI
CHM1_12035,071,604 - 35,079,943 (+)NCBI
T2T-CHM13v2.02038,265,393 - 38,275,321 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181526   ⟹   NP_852667
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,541,519 - 36,551,447 (+)NCBI
GRCh372035,169,887 - 35,178,226 (+)NCBI
Build 362034,603,311 - 34,611,640 (+)NCBI Archive
Celera2031,876,955 - 31,885,284 (+)RGD
HuRef2031,906,489 - 31,914,828 (+)NCBI
CHM1_12035,071,604 - 35,079,943 (+)NCBI
T2T-CHM13v2.02038,265,393 - 38,275,321 (+)NCBI
Sequence:
RefSeq Acc Id: NP_006088   ⟸   NM_006097
- Peptide Label: isoform a
- UniProtKB: Q9BUF9 (UniProtKB/Swiss-Prot),   Q9BQL9 (UniProtKB/Swiss-Prot),   E1P5T6 (UniProtKB/Swiss-Prot),   Q9H136 (UniProtKB/Swiss-Prot),   P24844 (UniProtKB/Swiss-Prot),   A0A384NY64 (UniProtKB/TrEMBL),   Q6IBG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_852667   ⟸   NM_181526
- Peptide Label: isoform b
- UniProtKB: P24844 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000217313   ⟸   ENST00000346786
RefSeq Acc Id: ENSP00000279022   ⟸   ENST00000279022
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P24844-F1-model_v2 AlphaFold P24844 1-172 view protein structure

Promoters
RGD ID:6798855
Promoter ID:HG_KWN:39299
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000079015,   OTTHUMT00000079016
Position:
Human AssemblyChrPosition (strand)Source
Build 362034,603,084 - 34,603,584 (+)MPROMDB
RGD ID:6851278
Promoter ID:EP73437
Type:initiation region
Name:HS_MYL9
Description:Myosin regulatory light chain 2, smooth muscle isoform.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362034,603,346 - 34,603,406EPD
RGD ID:13206835
Promoter ID:EPDNEW_H26998
Type:initiation region
Name:MYL9_1
Description:myosin light chain 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,541,519 - 36,541,579EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15754 AgrOrtholog
COSMIC MYL9 COSMIC
Ensembl Genes ENSG00000101335 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000279022 ENTREZGENE
  ENST00000279022.7 UniProtKB/Swiss-Prot
  ENST00000346786 ENTREZGENE
  ENST00000346786.2 UniProtKB/Swiss-Prot
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101335 GTEx
HGNC ID HGNC:15754 ENTREZGENE
Human Proteome Map MYL9 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10398 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10398 ENTREZGENE
OMIM 609905 OMIM
PANTHER MYOSIN REGULATORY LIGHT CHAIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYOSIN REGULATORY LIGHT POLYPEPTIDE 9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31387 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NY64 ENTREZGENE, UniProtKB/TrEMBL
  E1P5T6 ENTREZGENE
  MYL9_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6IBG1 ENTREZGENE, UniProtKB/TrEMBL
  Q9BQL9 ENTREZGENE
  Q9BUF9 ENTREZGENE
  Q9H136 ENTREZGENE
UniProt Secondary E1P5T6 UniProtKB/Swiss-Prot
  Q9BQL9 UniProtKB/Swiss-Prot
  Q9BUF9 UniProtKB/Swiss-Prot
  Q9H136 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 MYL9  myosin light chain 9  MYL9  myosin, light chain 9, regulatory  Symbol and/or name change 5135510 APPROVED