MB (myoglobin) - Rat Genome Database

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Gene: MB (myoglobin) Homo sapiens
Analyze
Symbol: MB
Name: myoglobin
RGD ID: 1354197
HGNC Page HGNC:6915
Description: Enables nitrite reductase activity; oxygen carrier activity; and peroxidase activity. Involved in removal of superoxide radicals. Located in sarcoplasm. Biomarker of COVID-19 and acute kidney failure.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC13548; myoglobgin; MYOSB; nitrite reductase MB; pseudoperoxidase MB; PVALB
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382235,606,764 - 35,623,354 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2235,606,764 - 35,637,951 (-)EnsemblGRCh38hg38GRCh38
GRCh372236,002,811 - 36,019,401 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362234,332,757 - 34,349,347 (-)NCBINCBI36Build 36hg18NCBI36
Build 342234,327,310 - 34,338,055NCBI
Celera2219,806,063 - 19,822,655 (-)NCBICelera
Cytogenetic Map22q12.3NCBI
HuRef2218,963,313 - 18,979,770 (-)NCBIHuRef
CHM1_12235,961,646 - 35,978,237 (-)NCBICHM1_1
T2T-CHM13v2.02236,065,732 - 36,082,323 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R,R,R)-alpha-tocopherol  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamiprid  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
atorvastatin calcium  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
C60 fullerene  (ISO)
cantharidin  (ISO)
carbon nanotube  (ISO)
carvacrol  (ISO)
cerium trichloride  (EXP)
cerivastatin  (ISO)
CGP 52608  (EXP)
ciprofloxacin  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
corilagin  (ISO)
corticosterone  (ISO)
CU-O LINKAGE  (ISO)
cumene hydroperoxide  (EXP)
cypermethrin  (ISO)
dexamethasone  (ISO)
dioxygen  (ISO)
dobutamine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
doxycycline  (EXP)
Echimidine  (ISO)
entinostat  (EXP)
erastin  (EXP)
ethanol  (ISO)
gallic acid  (EXP)
genistein  (ISO)
glycerol  (ISO)
glyphosate  (ISO)
graphite  (ISO)
Heliotrine  (ISO)
hydrogen peroxide  (EXP)
imidacloprid  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
lanthanum trichloride  (EXP)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
lutein  (ISO)
methapyrilene  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
nickel atom  (EXP)
O-methyleugenol  (EXP)
ozone  (ISO)
paracetamol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
pioglitazone  (ISO)
pluronic P-123  (ISO)
Poloxamer  (ISO)
potassium dichromate  (ISO)
rosuvastatin calcium  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
serpentine asbestos  (ISO)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sinapic acid  (ISO)
sodium arsenite  (EXP,ISO)
sodium nitrate  (ISO)
succinylcholine  (EXP)
sulforaphane  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
triamcinolone  (ISO)
triclosan  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
very-low-density lipoprotein triglyceride  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (TAS)
extracellular exosome  (HDA)
sarcoplasm  (IDA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Ischemia-modified albumin improves the usefulness of standard cardiac biomarkers for the diagnosis of myocardial ischemia in the emergency department setting. Anwaruddin S, etal., Am J Clin Pathol. 2005 Jan;123(1):140-5.
2. An observational study on rhabdomyolysis in the intensive care unit. Exploring its risk factors and main complication: acute kidney injury. El-Abdellati E, etal., Ann Intensive Care. 2013 Mar 14;3(1):8. doi: 10.1186/2110-5820-3-8.
3. Contribution of myoglobin-induced increases in vascular resistance to shock decompensation in experimental Crush-syndrome in anesthetized rats. Emig U, etal., Shock. 2003 Jan;19(1):79-84.
4. Role of myoglobin in the antioxidant defense of the heart. Flogel U, etal., FASEB J. 2004 Jul;18(10):1156-8. Epub 2004 May 7.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. The role of myoglobin in retarding oxygen depletion in anoxic heart. Marzouki L, etal., Arch Physiol Biochem. 2002 Dec;110(5):400-7.
7. A causative role for redox cycling of myoglobin and its inhibition by alkalinization in the pathogenesis and treatment of rhabdomyolysis-induced renal failure. Moore KP, etal., J Biol Chem. 1998 Nov 27;273(48):31731-7.
8. Myoglobin gene expression attenuates hepatic ischemia reperfusion injury. Nitta T, etal., J Surg Res. 2003 Apr;110(2):322-31.
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Clinical predictors of mortality due to COVID-19 based on an analysis of data of 150 patients from Wuhan, China. Ruan Q, etal., Intensive Care Med. 2020 May;46(5):846-848. doi: 10.1007/s00134-020-05991-x. Epub 2020 Mar 3.
11. Evaluation of coronary artery patency using cardiac markers. Tanasijevic MJ J Thromb Thrombolysis. 2005 Feb;19(1):21-4.
12. The clinical characteristics and outcomes of patients with diabetes and secondary hyperglycaemia with coronavirus disease 2019: A single-centre, retrospective, observational study in Wuhan. Zhang Y, etal., Diabetes Obes Metab. 2020 May 14. doi: 10.1111/dom.14086.
Additional References at PubMed
PMID:477257   PMID:2342104   PMID:2989088   PMID:4627044   PMID:5285572   PMID:5540041   PMID:5555219   PMID:5555226   PMID:5805522   PMID:6326055   PMID:6571704   PMID:7895732  
PMID:8007964   PMID:9722578   PMID:9791540   PMID:10591208   PMID:10779502   PMID:11452891   PMID:12006163   PMID:12030657   PMID:12477932   PMID:12601813   PMID:12745799   PMID:12760310  
PMID:14506721   PMID:15048578   PMID:15226628   PMID:15226631   PMID:15461802   PMID:15485667   PMID:15489334   PMID:15601759   PMID:15644316   PMID:16712791   PMID:17311997   PMID:17605115  
PMID:17883274   PMID:17996904   PMID:18029348   PMID:19005161   PMID:19523464   PMID:19541931   PMID:19650765   PMID:20124401   PMID:20531416   PMID:20668762   PMID:20873231   PMID:21256983  
PMID:21601304   PMID:21639835   PMID:21640426   PMID:21782983   PMID:21832049   PMID:21873635   PMID:21930697   PMID:23247055   PMID:23297402   PMID:23533145   PMID:23839096   PMID:23931877  
PMID:24026678   PMID:24076247   PMID:24446190   PMID:25002394   PMID:25172328   PMID:25452214   PMID:26271987   PMID:26465331   PMID:26559958   PMID:26894983   PMID:27038680   PMID:27056440  
PMID:27323063   PMID:27417724   PMID:28514442   PMID:28977666   PMID:29857573   PMID:30183107   PMID:30918256   PMID:31894249   PMID:32006209   PMID:32260401   PMID:32891753   PMID:32957872  
PMID:33961781   PMID:34458331   PMID:34671319   PMID:34679218   PMID:34972240   PMID:35575683   PMID:35831314   PMID:37643191   PMID:37759463  


Genomics

Comparative Map Data
MB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382235,606,764 - 35,623,354 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2235,606,764 - 35,637,951 (-)EnsemblGRCh38hg38GRCh38
GRCh372236,002,811 - 36,019,401 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362234,332,757 - 34,349,347 (-)NCBINCBI36Build 36hg18NCBI36
Build 342234,327,310 - 34,338,055NCBI
Celera2219,806,063 - 19,822,655 (-)NCBICelera
Cytogenetic Map22q12.3NCBI
HuRef2218,963,313 - 18,979,770 (-)NCBIHuRef
CHM1_12235,961,646 - 35,978,237 (-)NCBICHM1_1
T2T-CHM13v2.02236,065,732 - 36,082,323 (-)NCBIT2T-CHM13v2.0
Mb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,899,687 - 76,934,868 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1576,899,687 - 76,934,870 (-)EnsemblGRCm39 Ensembl
GRCm381577,015,487 - 77,050,668 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1577,015,487 - 77,050,670 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,845,917 - 76,881,098 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361576,842,742 - 76,877,923 (-)NCBIMGSCv36mm8
Celera1578,503,595 - 78,538,817 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.36NCBI
Mb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87110,640,511 - 110,647,742 (-)NCBIGRCr8
mRatBN7.27108,759,903 - 108,767,134 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7108,759,904 - 108,767,383 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7110,502,181 - 110,509,413 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07112,725,771 - 112,733,003 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07112,687,217 - 112,694,445 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07118,101,633 - 118,108,864 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7118,101,634 - 118,108,864 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07118,094,391 - 118,101,622 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47115,087,558 - 115,094,789 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17115,121,788 - 115,129,019 (-)NCBI
Celera7105,108,137 - 105,115,366 (-)NCBICelera
Cytogenetic Map7q34NCBI
Mb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540543,215,007 - 43,222,052 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540543,215,404 - 43,221,606 (-)NCBIChiLan1.0ChiLan1.0
MB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22345,546,697 - 45,557,217 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12248,243,165 - 48,253,685 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02216,612,519 - 16,645,333 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12234,452,451 - 34,485,581 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2234,452,451 - 34,463,224 (-)Ensemblpanpan1.1panPan2
MB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11028,573,819 - 28,583,526 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1028,552,749 - 28,583,522 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1028,513,611 - 28,523,318 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01029,360,185 - 29,369,892 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1029,356,425 - 29,369,888 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11029,085,598 - 29,095,292 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01029,394,667 - 29,404,374 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01029,575,155 - 29,584,857 (+)NCBIUU_Cfam_GSD_1.0
Mb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494511,880,637 - 11,887,251 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364924,890,871 - 4,897,665 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364924,890,871 - 4,897,665 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MB
(Sus scrofa - pig)
No map positions available.
MB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11918,369,234 - 18,385,922 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1918,369,174 - 18,380,270 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045107,562,452 - 107,578,780 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624750259,041 - 266,238 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624750259,559 - 266,124 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MB
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1 copy number loss See cases [RCV000051364] Chr22:35333993..38900177 [GRCh38]
Chr22:35729986..39296182 [GRCh37]
Chr22:34059986..37626128 [NCBI36]
Chr22:22q12.3-13.1
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3
pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1 copy number loss See cases [RCV000207444] Chr22:35680095..38098981 [GRCh37]
Chr22:22q12.3-13.1
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3
pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3 copy number gain See cases [RCV000512385] Chr22:35674826..39466442 [GRCh37]
Chr22:22q12.3-13.1
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_005368.3(MB):c.292C>T (p.His98Tyr) single nucleotide variant Myopathy, sarcoplasmic body [RCV003153827] Chr22:35610910 [GRCh38]
Chr22:36006957 [GRCh37]
Chr22:22q12.3
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.10:g.(?_35776672)_(42486826_?)dup duplication Adenylosuccinate lyase deficiency [RCV003119093] Chr22:35776672..42486826 [GRCh37]
Chr22:22q12.3-13.2
uncertain significance
NM_005368.3(MB):c.354C>A (p.Ser118Arg) single nucleotide variant not specified [RCV004176516] Chr22:35607408 [GRCh38]
Chr22:36003455 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_005368.3(MB):c.418C>T (p.Arg140Trp) single nucleotide variant not specified [RCV004209420] Chr22:35607344 [GRCh38]
Chr22:36003391 [GRCh37]
Chr22:22q12.3
uncertain significance
H98Y single nucleotide variant Myopathy, sarcoplasmic body [RCV003154855]   pathogenic
NM_005368.3(MB):c.44G>C (p.Trp15Ser) single nucleotide variant not specified [RCV004267904] Chr22:35617214 [GRCh38]
Chr22:36013261 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_005368.3(MB):c.205G>A (p.Val69Met) single nucleotide variant not specified [RCV004260228] Chr22:35610997 [GRCh38]
Chr22:36007044 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_005368.3(MB):c.364G>A (p.Gly122Arg) single nucleotide variant not specified [RCV004349619] Chr22:35607398 [GRCh38]
Chr22:36003445 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_005368.3(MB):c.395T>A (p.Met132Lys) single nucleotide variant not specified [RCV004416823] Chr22:35607367 [GRCh38]
Chr22:36003414 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_005368.3(MB):c.425A>G (p.Asp142Gly) single nucleotide variant not specified [RCV004416825] Chr22:35607337 [GRCh38]
Chr22:36003384 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_005368.3(MB):c.407T>A (p.Leu136Gln) single nucleotide variant not specified [RCV004416824] Chr22:35607355 [GRCh38]
Chr22:36003402 [GRCh37]
Chr22:22q12.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3558
Count of miRNA genes:810
Interacting mature miRNAs:954
Transcripts:ENST00000359787, ENST00000397326, ENST00000397328, ENST00000401702, ENST00000406324, ENST00000419229, ENST00000442617, ENST00000443033, ENST00000447607, ENST00000451685, ENST00000472240
Prediction methods:Microtar, Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
407265250GWAS914226_Hblood protein measurement QTL GWAS914226 (human)4e-08blood protein measurementblood protein measurement (CMO:0000028)223561355735613558Human
406928756GWAS577732_Htriglyceride measurement QTL GWAS577732 (human)2e-08triglyceride measurementblood triglyceride level (CMO:0000118)223561681735616818Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
406996933GWAS645909_Hsex hormone-binding globulin measurement QTL GWAS645909 (human)5e-08sex hormone-binding globulin measurement223561137435611375Human

Markers in Region
RH27830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,006,765 - 36,007,231UniSTSGRCh37
Build 362234,336,711 - 34,337,177RGDNCBI36
Celera2219,810,017 - 19,810,484RGD
Cytogenetic Map22q13.1UniSTS
HuRef2218,967,267 - 18,967,734UniSTS
D22S978E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,002,882 - 36,003,030UniSTSGRCh37
Build 362234,332,828 - 34,332,976RGDNCBI36
Celera2219,806,134 - 19,806,282RGD
Cytogenetic Map22q13.1UniSTS
HuRef2218,963,384 - 18,963,532UniSTS
GDB:270294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,013,054 - 36,013,270UniSTSGRCh37
Build 362234,343,000 - 34,343,216RGDNCBI36
Celera2219,816,308 - 19,816,524RGD
Cytogenetic Map22q13.1UniSTS
HuRef2218,973,551 - 18,973,767UniSTS
MB  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,006,952 - 36,007,148UniSTSGRCh37
Build 362234,336,898 - 34,337,094RGDNCBI36
Celera2219,810,205 - 19,810,401RGD
HuRef2218,967,455 - 18,967,651UniSTS
D22S1549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,002,994 - 36,003,098UniSTSGRCh37
Build 362234,332,940 - 34,333,044RGDNCBI36
Celera2219,806,246 - 19,806,350RGD
Cytogenetic Map22q13.1UniSTS
HuRef2218,963,496 - 18,963,600UniSTS
GeneMap99-G3 RH Map22972.0UniSTS
RH70805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,012,298 - 36,012,451UniSTSGRCh37
Build 362234,342,244 - 34,342,397RGDNCBI36
Celera2219,815,552 - 19,815,705RGD
Cytogenetic Map22q13.1UniSTS
HuRef2218,972,795 - 18,972,948UniSTS
GeneMap99-GB4 RH Map22107.06UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2394 2787 2233 4883 1677 2282 4 586 1516 426 2218 6780 6039 41 3692 1 814 1703 1586 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH002877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ925917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ956082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU585249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB140824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ003030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG531383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000359787   ⟹   ENSP00000352835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2235,606,764 - 35,623,354 (-)Ensembl
Ensembl Acc Id: ENST00000397326   ⟹   ENSP00000380489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2235,606,764 - 35,617,329 (-)Ensembl
Ensembl Acc Id: ENST00000397328   ⟹   ENSP00000380491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2235,606,764 - 35,617,508 (-)Ensembl
Ensembl Acc Id: ENST00000401702   ⟹   ENSP00000386060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2235,606,764 - 35,615,713 (-)Ensembl
Ensembl Acc Id: ENST00000406324   ⟹   ENSP00000384239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2235,607,272 - 35,622,561 (-)Ensembl
Ensembl Acc Id: ENST00000419229   ⟹   ENSP00000414243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2235,610,970 - 35,622,524 (-)Ensembl
Ensembl Acc Id: ENST00000442617   ⟹   ENSP00000413309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2235,607,375 - 35,617,329 (-)Ensembl
Ensembl Acc Id: ENST00000443033   ⟹   ENSP00000403351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2235,607,333 - 35,623,401 (-)Ensembl
Ensembl Acc Id: ENST00000447607   ⟹   ENSP00000389263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2235,610,884 - 35,637,951 (-)Ensembl
Ensembl Acc Id: ENST00000451685   ⟹   ENSP00000397944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2235,610,884 - 35,617,586 (-)Ensembl
RefSeq Acc Id: NM_001362846   ⟹   NP_001349775
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382235,606,764 - 35,622,529 (-)NCBI
T2T-CHM13v2.02236,065,732 - 36,081,498 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382809   ⟹   NP_001369738
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382235,606,764 - 35,623,354 (-)NCBI
T2T-CHM13v2.02236,065,732 - 36,082,323 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382810   ⟹   NP_001369739
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382235,606,764 - 35,622,529 (-)NCBI
T2T-CHM13v2.02236,065,732 - 36,081,498 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382811   ⟹   NP_001369740
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382235,606,764 - 35,622,202 (-)NCBI
T2T-CHM13v2.02236,065,732 - 36,081,171 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382812   ⟹   NP_001369741
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382235,606,764 - 35,622,529 (-)NCBI
T2T-CHM13v2.02236,065,732 - 36,081,498 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382813   ⟹   NP_001369742
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382235,606,764 - 35,623,354 (-)NCBI
T2T-CHM13v2.02236,065,732 - 36,082,323 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005368   ⟹   NP_005359
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382235,606,764 - 35,617,329 (-)NCBI
GRCh372236,002,811 - 36,019,401 (-)ENTREZGENE
Build 362234,332,757 - 34,343,330 (-)NCBI Archive
HuRef2218,963,313 - 18,979,770 (-)ENTREZGENE
CHM1_12235,961,646 - 35,972,220 (-)NCBI
T2T-CHM13v2.02236,065,732 - 36,076,298 (-)NCBI
Sequence:
RefSeq Acc Id: NM_203377   ⟹   NP_976311
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382235,606,764 - 35,623,354 (-)NCBI
GRCh372236,002,811 - 36,019,401 (-)ENTREZGENE
Build 362234,332,757 - 34,349,347 (-)NCBI Archive
HuRef2218,963,313 - 18,979,770 (-)ENTREZGENE
CHM1_12235,961,646 - 35,978,237 (-)NCBI
T2T-CHM13v2.02236,065,732 - 36,082,323 (-)NCBI
Sequence:
RefSeq Acc Id: NM_203378   ⟹   NP_976312
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382235,606,764 - 35,617,508 (-)NCBI
GRCh372236,002,811 - 36,019,401 (-)ENTREZGENE
Build 362234,332,757 - 34,343,501 (-)NCBI Archive
HuRef2218,963,313 - 18,979,770 (-)ENTREZGENE
CHM1_12235,961,646 - 35,972,391 (-)NCBI
T2T-CHM13v2.02236,065,732 - 36,076,477 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001349775 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369738 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369739 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369740 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369741 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369742 (Get FASTA)   NCBI Sequence Viewer  
  NP_005359 (Get FASTA)   NCBI Sequence Viewer  
  NP_976311 (Get FASTA)   NCBI Sequence Viewer  
  NP_976312 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA59595 (Get FASTA)   NCBI Sequence Viewer  
  AAH14547 (Get FASTA)   NCBI Sequence Viewer  
  AAH18001 (Get FASTA)   NCBI Sequence Viewer  
  AAX84516 (Get FASTA)   NCBI Sequence Viewer  
  BAG36764 (Get FASTA)   NCBI Sequence Viewer  
  BAG62343 (Get FASTA)   NCBI Sequence Viewer  
  CAA25109 (Get FASTA)   NCBI Sequence Viewer  
  CAG30402 (Get FASTA)   NCBI Sequence Viewer  
  CAG46747 (Get FASTA)   NCBI Sequence Viewer  
  CDI64131 (Get FASTA)   NCBI Sequence Viewer  
  CDI64132 (Get FASTA)   NCBI Sequence Viewer  
  CDI64133 (Get FASTA)   NCBI Sequence Viewer  
  CDI64134 (Get FASTA)   NCBI Sequence Viewer  
  CDI64135 (Get FASTA)   NCBI Sequence Viewer  
  CDI64138 (Get FASTA)   NCBI Sequence Viewer  
  EAW60065 (Get FASTA)   NCBI Sequence Viewer  
  EAW60066 (Get FASTA)   NCBI Sequence Viewer  
  EAW60067 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000352835
  ENSP00000352835.1
  ENSP00000380489
  ENSP00000380489.2
  ENSP00000380491
  ENSP00000380491.1
  ENSP00000384239
  ENSP00000384239.1
  ENSP00000386060
  ENSP00000386060.1
  ENSP00000389263.1
  ENSP00000397944.1
  ENSP00000403351.1
  ENSP00000413309.1
  ENSP00000414243.1
GenBank Protein P02144 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_976311   ⟸   NM_203377
- Peptide Label: isoform 1
- UniProtKB: Q52H51 (UniProtKB/Swiss-Prot),   Q5THY7 (UniProtKB/Swiss-Prot),   P02144 (UniProtKB/Swiss-Prot),   A0A1K0FU49 (UniProtKB/TrEMBL),   B2RA67 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_976312   ⟸   NM_203378
- Peptide Label: isoform 1
- UniProtKB: Q52H51 (UniProtKB/Swiss-Prot),   Q5THY7 (UniProtKB/Swiss-Prot),   P02144 (UniProtKB/Swiss-Prot),   A0A1K0FU49 (UniProtKB/TrEMBL),   B2RA67 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005359   ⟸   NM_005368
- Peptide Label: isoform 1
- UniProtKB: Q52H51 (UniProtKB/Swiss-Prot),   Q5THY7 (UniProtKB/Swiss-Prot),   P02144 (UniProtKB/Swiss-Prot),   A0A1K0FU49 (UniProtKB/TrEMBL),   B2RA67 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001349775   ⟸   NM_001362846
- Peptide Label: isoform 1
- UniProtKB: Q52H51 (UniProtKB/Swiss-Prot),   P02144 (UniProtKB/Swiss-Prot),   Q5THY7 (UniProtKB/Swiss-Prot),   A0A1K0FU49 (UniProtKB/TrEMBL),   B2RA67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369742   ⟸   NM_001382813
- Peptide Label: isoform 2
- UniProtKB: Q8WVH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369738   ⟸   NM_001382809
- Peptide Label: isoform 1
- UniProtKB: Q52H51 (UniProtKB/Swiss-Prot),   P02144 (UniProtKB/Swiss-Prot),   Q5THY7 (UniProtKB/Swiss-Prot),   A0A1K0FU49 (UniProtKB/TrEMBL),   B2RA67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369741   ⟸   NM_001382812
- Peptide Label: isoform 2
- UniProtKB: Q8WVH6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369739   ⟸   NM_001382810
- Peptide Label: isoform 1
- UniProtKB: Q52H51 (UniProtKB/Swiss-Prot),   P02144 (UniProtKB/Swiss-Prot),   Q5THY7 (UniProtKB/Swiss-Prot),   A0A1K0FU49 (UniProtKB/TrEMBL),   B2RA67 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369740   ⟸   NM_001382811
- Peptide Label: isoform 1
- UniProtKB: Q52H51 (UniProtKB/Swiss-Prot),   P02144 (UniProtKB/Swiss-Prot),   Q5THY7 (UniProtKB/Swiss-Prot),   A0A1K0FU49 (UniProtKB/TrEMBL),   B2RA67 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000352835   ⟸   ENST00000359787
Ensembl Acc Id: ENSP00000397944   ⟸   ENST00000451685
Ensembl Acc Id: ENSP00000386060   ⟸   ENST00000401702
Ensembl Acc Id: ENSP00000413309   ⟸   ENST00000442617
Ensembl Acc Id: ENSP00000403351   ⟸   ENST00000443033
Ensembl Acc Id: ENSP00000414243   ⟸   ENST00000419229
Ensembl Acc Id: ENSP00000384239   ⟸   ENST00000406324
Ensembl Acc Id: ENSP00000389263   ⟸   ENST00000447607
Ensembl Acc Id: ENSP00000380491   ⟸   ENST00000397328
Ensembl Acc Id: ENSP00000380489   ⟸   ENST00000397326
Protein Domains
GLOBIN

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02144-F1-model_v2 AlphaFold P02144 1-154 view protein structure

Promoters
RGD ID:6849652
Promoter ID:EP11091
Type:single initiation site
Name:HS_MB
Description:Myoglobin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 27; Mammalian myoglobin.
Tissues & Cell Lines:skeletal muscle
Experiment Methods:Nuclease protection; experiments performed with closely related; gene; NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362234,343,322 - 34,343,382EPD
RGD ID:6800110
Promoter ID:HG_KWN:42557
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000406324,   OTTHUMT00000319061
Position:
Human AssemblyChrPosition (strand)Source
Build 362234,348,351 - 34,348,851 (-)MPROMDB
RGD ID:13603862
Promoter ID:EPDNEW_H28115
Type:initiation region
Name:MB_1
Description:myoglobin
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
GRCh382235,617,329 - 35,617,389EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6915 AgrOrtholog
COSMIC MB COSMIC
Ensembl Genes ENSG00000198125 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000359787 ENTREZGENE
  ENST00000359787.5 UniProtKB/Swiss-Prot
  ENST00000397326 ENTREZGENE
  ENST00000397326.7 UniProtKB/Swiss-Prot
  ENST00000397328 ENTREZGENE
  ENST00000397328.5 UniProtKB/Swiss-Prot
  ENST00000401702 ENTREZGENE
  ENST00000401702.5 UniProtKB/TrEMBL
  ENST00000406324 ENTREZGENE
  ENST00000406324.5 UniProtKB/Swiss-Prot
  ENST00000419229.1 UniProtKB/TrEMBL
  ENST00000442617.1 UniProtKB/TrEMBL
  ENST00000443033.5 UniProtKB/TrEMBL
  ENST00000447607.5 UniProtKB/TrEMBL
  ENST00000451685.5 UniProtKB/TrEMBL
Gene3D-CATH 6.10.140.2100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.140.2110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198125 GTEx
HGNC ID HGNC:6915 ENTREZGENE
Human Proteome Map MB Human Proteome Map
InterPro Globin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Globin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myoglobin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4151 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4151 ENTREZGENE
OMIM 160000 OMIM
PANTHER MYOGLOBIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR47132 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Globin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30658 PharmGKB
PRINTS MYOGLOBIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GLOBIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46458 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1K0FU49 ENTREZGENE, UniProtKB/TrEMBL
  B0QYF7_HUMAN UniProtKB/TrEMBL
  B0QYF8_HUMAN UniProtKB/TrEMBL
  B2RA67 ENTREZGENE, UniProtKB/TrEMBL
  F2Z2F1_HUMAN UniProtKB/TrEMBL
  F2Z337_HUMAN UniProtKB/TrEMBL
  MYG_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q52H51 ENTREZGENE
  Q5THY7 ENTREZGENE
  Q8WVH6 ENTREZGENE, UniProtKB/TrEMBL
  U6FIU7_HUMAN UniProtKB/TrEMBL
  U6FIV2_HUMAN UniProtKB/TrEMBL
  U6FJG6_HUMAN UniProtKB/TrEMBL
  U6FM64_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q52H51 UniProtKB/Swiss-Prot
  Q5THY7 UniProtKB/Swiss-Prot