MSTN (myostatin) - Rat Genome Database

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Gene: MSTN (myostatin) Homo sapiens
Analyze
Symbol: MSTN
Name: myostatin
RGD ID: 736334
HGNC Page HGNC:4223
Description: Enables identical protein binding activity and signaling receptor binding activity. Involved in several processes, including muscle cell cellular homeostasis; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and negative regulation of skeletal muscle tissue growth. Located in extracellular space. Implicated in myostatin-related muscle hypertrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GDF-8; GDF8; growth differentiation factor 8; growth/differentiation factor 8; MSLHP; myostatin-b
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BW326_H BMD6_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382190,055,700 - 190,062,729 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2190,055,700 - 190,062,729 (-)EnsemblGRCh38hg38GRCh38
GRCh372190,920,426 - 190,927,455 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362190,628,671 - 190,635,700 (-)NCBINCBI36Build 36hg18NCBI36
Build 342190,745,932 - 190,752,961NCBI
Celera2184,515,357 - 184,522,386 (-)NCBICelera
Cytogenetic Map2q32.2NCBI
HuRef2182,780,433 - 182,787,462 (-)NCBIHuRef
CHM1_12190,926,378 - 190,933,407 (-)NCBICHM1_1
T2T-CHM13v2.02190,545,060 - 190,552,089 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
extracellular region  (IEA)
extracellular space  (IBA,IDA,IEA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Myostatin expression in age and denervation-induced skeletal muscle atrophy. Baumann AP, etal., J Musculoskelet Neuronal Interact. 2003 Mar;3(1):8-16.
2. Hypothyroidism is associated with increased myostatin expression in rats. Carneiro I, etal., J Endocrinol Invest. 2008 Sep;31(9):773-8.
3. Muscle myostatin signalling is enhanced in experimental cancer cachexia. Costelli P, etal., Eur J Clin Invest. 2008 Jul;38(7):531-8.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Myostatin inhibition slows muscle atrophy in rodent models of amyotrophic lateral sclerosis. Holzbaur EL, etal., Neurobiol Dis. 2006 Sep;23(3):697-707. Epub 2006 Jul 11.
6. Long term adrenal insufficiency induces skeletal muscle atrophy and increases the serum levels of active form myostatin in rat serum. Hosoyama T, etal., Zoolog Sci. 2005 Feb;22(2):229-36.
7. Peripheral venous occlusion causing cardiac hypertrophy and changes in biological parameters in rats. Kawada S and Ishii N, Eur J Appl Physiol. 2009 Jan 6.
8. Regulation of myostatin by glucocorticoids after thermal injury. Lang CH, etal., FASEB J. 2001 Aug;15(10):1807-9.
9. Systemic Blockade of ACVR2B Ligands Protects Myocardium from Acute Ischemia-Reperfusion Injury. Magga J, etal., Mol Ther. 2019 Mar 6;27(3):600-610. doi: 10.1016/j.ymthe.2019.01.013. Epub 2019 Jan 24.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Myostatin mutation associated with gross muscle hypertrophy in a child. Schuelke M, etal., N Engl J Med. 2004 Jun 24;350(26):2682-8.
16. Myostatin expression in ventricular myocardium in a rat model of volume-overload heart failure. Shyu KG, etal., Eur J Clin Invest. 2006 Oct;36(10):713-9.
17. Work-induced changes in skeletal muscle IGF-1 and myostatin gene expression in uremia. Sun DF, etal., Kidney Int. 2006 Jun 28.
18. Systemic blockade of ACVR2B ligands attenuates muscle wasting in ischemic heart failure without compromising cardiac function. Szabó Z, etal., FASEB J. 2020 Aug;34(8):9911-9924. doi: 10.1096/fj.201903074RR. Epub 2020 May 19.
Additional References at PubMed
PMID:7558031   PMID:9139826   PMID:9288100   PMID:9356471   PMID:9843994   PMID:10362012   PMID:10508689   PMID:10610713   PMID:10844590   PMID:11459935   PMID:11519824   PMID:11555072  
PMID:12060865   PMID:12165013   PMID:12175483   PMID:12194980   PMID:12209887   PMID:12477932   PMID:12595574   PMID:14517293   PMID:14623262   PMID:15083369   PMID:15181048   PMID:15489334  
PMID:15567067   PMID:16437538   PMID:16464946   PMID:16849634   PMID:17003236   PMID:17186467   PMID:17609255   PMID:17673556   PMID:17703271   PMID:17711997   PMID:17823296   PMID:18175804  
PMID:18203713   PMID:18240972   PMID:18284920   PMID:18335407   PMID:18535106   PMID:18563849   PMID:18567511   PMID:18596030   PMID:18801770   PMID:18835929   PMID:19136503   PMID:19147968  
PMID:19232494   PMID:19237423   PMID:19277943   PMID:19299575   PMID:19346981   PMID:19357233   PMID:19422651   PMID:19453261   PMID:19533653   PMID:19591015   PMID:19751112   PMID:19828686  
PMID:19918890   PMID:20026378   PMID:20044471   PMID:20161792   PMID:20186835   PMID:20237496   PMID:20301671   PMID:20536908   PMID:20640547   PMID:20648054   PMID:20734064   PMID:20801187  
PMID:20884321   PMID:20930205   PMID:21104587   PMID:21164115   PMID:21228768   PMID:21273059   PMID:21283721   PMID:21450574   PMID:21463333   PMID:21507246   PMID:21508334   PMID:21605155  
PMID:21665986   PMID:21832049   PMID:21873635   PMID:21900687   PMID:21900845   PMID:21931616   PMID:22020285   PMID:22052913   PMID:22081442   PMID:22209717   PMID:22324844   PMID:22395277  
PMID:22426697   PMID:22476926   PMID:22568578   PMID:22615949   PMID:22693174   PMID:22802085   PMID:22818745   PMID:22916099   PMID:22968486   PMID:23291166   PMID:23354683   PMID:23687104  
PMID:23829672   PMID:23861230   PMID:23967261   PMID:24145431   PMID:24215591   PMID:24457615   PMID:24479661   PMID:24680839   PMID:25093622   PMID:25108351   PMID:25254550   PMID:25443639  
PMID:25543063   PMID:25591711   PMID:25641196   PMID:25736326   PMID:25749570   PMID:25915890   PMID:25936293   PMID:26046327   PMID:26086422   PMID:26138721   PMID:26305594   PMID:26393401  
PMID:26438394   PMID:26502079   PMID:26572800   PMID:26577677   PMID:26607022   PMID:26998756   PMID:27034275   PMID:27144806   PMID:27165248   PMID:27304512   PMID:27323660   PMID:27390974  
PMID:27392496   PMID:27467217   PMID:27481097   PMID:27559042   PMID:27625211   PMID:27861536   PMID:27878995   PMID:28007336   PMID:28074267   PMID:28257634   PMID:28345488   PMID:28406165  
PMID:28465115   PMID:28472635   PMID:28627027   PMID:29192144   PMID:29247983   PMID:29330193   PMID:29343545   PMID:29348202   PMID:29409020   PMID:29546591   PMID:29558345   PMID:29718700  
PMID:29794429   PMID:30152416   PMID:30165829   PMID:30241032   PMID:30281844   PMID:30317402   PMID:30370618   PMID:30463070   PMID:31302645   PMID:31442362   PMID:31526145   PMID:31539882  
PMID:31582541   PMID:31829144   PMID:32027955   PMID:32035222   PMID:32173683   PMID:32272446   PMID:32286342   PMID:32645967   PMID:32751455   PMID:32838566   PMID:33020908   PMID:33044569  
PMID:33173958   PMID:33348054   PMID:33546034   PMID:33554779   PMID:33874963   PMID:33876824   PMID:33961781   PMID:34067816   PMID:34131275   PMID:34233657   PMID:34319830   PMID:34432647  
PMID:34469188   PMID:34630324   PMID:35010726   PMID:35563408   PMID:35692411   PMID:35780124   PMID:36523894   PMID:36535110   PMID:36901894   PMID:36980239   PMID:37143106   PMID:37648959  
PMID:37738042   PMID:37801203   PMID:38082252   PMID:38088865   PMID:38117215   PMID:38136649   PMID:38309190  


Genomics

Comparative Map Data
MSTN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382190,055,700 - 190,062,729 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2190,055,700 - 190,062,729 (-)EnsemblGRCh38hg38GRCh38
GRCh372190,920,426 - 190,927,455 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362190,628,671 - 190,635,700 (-)NCBINCBI36Build 36hg18NCBI36
Build 342190,745,932 - 190,752,961NCBI
Celera2184,515,357 - 184,522,386 (-)NCBICelera
Cytogenetic Map2q32.2NCBI
HuRef2182,780,433 - 182,787,462 (-)NCBIHuRef
CHM1_12190,926,378 - 190,933,407 (-)NCBICHM1_1
T2T-CHM13v2.02190,545,060 - 190,552,089 (-)NCBIT2T-CHM13v2.0
Mstn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39153,100,799 - 53,107,238 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl153,100,799 - 53,107,238 (+)EnsemblGRCm39 Ensembl
GRCm38153,061,640 - 53,068,079 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl153,061,640 - 53,068,079 (+)EnsemblGRCm38mm10GRCm38
MGSCv37153,118,507 - 53,124,923 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36153,006,208 - 53,012,624 (+)NCBIMGSCv36mm8
Celera153,601,512 - 53,607,928 (+)NCBICelera
Cytogenetic Map1C1.1NCBI
cM Map126.99NCBI
Mstn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8955,944,513 - 55,950,913 (-)NCBIGRCr8
mRatBN7.2948,452,533 - 48,458,933 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl948,452,533 - 48,458,933 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx956,995,653 - 57,000,498 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0962,118,483 - 62,123,328 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0960,414,473 - 60,419,318 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0953,310,977 - 53,315,804 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl953,309,598 - 53,315,915 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0952,977,371 - 52,982,198 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4945,426,831 - 45,431,658 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1945,428,244 - 45,433,072 (-)NCBI
Celera946,124,738 - 46,129,565 (-)NCBICelera
Cytogenetic Map9q22NCBI
Mstn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554038,914,482 - 8,923,465 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554038,914,505 - 8,921,190 (+)NCBIChiLan1.0ChiLan1.0
MSTN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21392,751,094 - 92,761,026 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B92,765,891 - 92,773,149 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B77,364,927 - 77,452,426 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B195,283,903 - 195,290,922 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B195,283,903 - 195,290,922 (-)Ensemblpanpan1.1panPan2
MSTN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.137729,172 - 734,255 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl37729,172 - 734,362 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha371,685,007 - 1,690,090 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.037623,197 - 628,235 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl37621,860 - 628,368 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.137633,617 - 638,697 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.037601,655 - 606,733 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.037629,871 - 634,951 (-)NCBIUU_Cfam_GSD_1.0
Mstn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303148,842,726 - 148,849,304 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365067,988,718 - 7,996,971 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365067,988,879 - 7,996,260 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MSTN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1594,620,270 - 94,628,545 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11594,623,526 - 94,628,440 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215105,734,309 - 105,739,223 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MSTN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11075,564,816 - 75,570,956 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1075,565,152 - 75,570,528 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040123,900,932 - 123,908,109 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mstn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248545,892,938 - 5,899,473 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248545,893,051 - 5,899,380 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MSTN
66 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005259.3(MSTN):c.373+5G>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV000008144] Chr2:190062219 [GRCh38]
Chr2:190926945 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_005259.3(MSTN):c.163G>A (p.Ala55Thr) single nucleotide variant MSTN-related condition [RCV003974941]|Myostatin-related muscle hypertrophy [RCV000055913] Chr2:190062434 [GRCh38]
Chr2:190927160 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.458A>G (p.Lys153Arg) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000055914]|not provided [RCV001610341] Chr2:190060351 [GRCh38]
Chr2:190925077 [GRCh37]
Chr2:2q32.2		 pathogenic|benign
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1		 pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1		 pathogenic
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 copy number loss See cases [RCV000138253] Chr2:181758701..192015392 [GRCh38]
Chr2:182623428..192880118 [GRCh37]
Chr2:182331673..192588363 [NCBI36]
Chr2:2q31.3-32.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 copy number loss See cases [RCV000141735] Chr2:177827730..195125329 [GRCh38]
Chr2:178692457..195990053 [GRCh37]
Chr2:178400703..195698298 [NCBI36]
Chr2:2q31.2-32.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3		 pathogenic
NM_005259.3(MSTN):c.386T>G (p.Met129Arg) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000403660]|not provided [RCV000879806] Chr2:190060423 [GRCh38]
Chr2:190925149 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.466C>A (p.Leu156Ile) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000283902] Chr2:190060343 [GRCh38]
Chr2:190925069 [GRCh37]
Chr2:2q32.2		 likely benign
NM_005259.3(MSTN):c.306C>T (p.Ser102=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000289636]|not provided [RCV000884311] Chr2:190062291 [GRCh38]
Chr2:190927017 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.748-3C>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV000372367] Chr2:190057641 [GRCh38]
Chr2:190922367 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_005259.3(MSTN):c.551C>T (p.Thr184Ile) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000319193] Chr2:190060258 [GRCh38]
Chr2:190924984 [GRCh37]
Chr2:2q32.2		 benign|uncertain significance
NM_005259.3(MSTN):c.263G>A (p.Arg88Gln) single nucleotide variant MSTN-related condition [RCV003940339]|Myostatin-related muscle hypertrophy [RCV000347027]|not provided [RCV000762305] Chr2:190062334 [GRCh38]
Chr2:190927060 [GRCh37]
Chr2:2q32.2		 benign|likely benign|uncertain significance
NM_005259.3(MSTN):c.1062T>C (p.Asn354=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000317681] Chr2:190057324 [GRCh38]
Chr2:190922050 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
NM_005259.3(MSTN):c.*1203G>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV000278586] Chr2:190056055 [GRCh38]
Chr2:190920781 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.674T>C (p.Ile225Thr) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000280530]|not provided [RCV000891357] Chr2:190060135 [GRCh38]
Chr2:190924861 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.*259A>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV000275243] Chr2:190056999 [GRCh38]
Chr2:190921725 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_005259.3(MSTN):c.*41G>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV000276588] Chr2:190057217 [GRCh38]
Chr2:190921943 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_005259.3(MSTN):c.*1362A>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV000332447] Chr2:190055896 [GRCh38]
Chr2:190920622 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.-44GAA[1] microsatellite Myostatin-related muscle hypertrophy [RCV000397391] Chr2:190062635..190062637 [GRCh38]
Chr2:190927361..190927363 [GRCh37]
Chr2:2q32.2		 likely benign
NM_005259.3(MSTN):c.490G>A (p.Glu164Lys) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000376122]|not provided [RCV000960832] Chr2:190060319 [GRCh38]
Chr2:190925045 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.*395A>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV000398216] Chr2:190056863 [GRCh38]
Chr2:190921589 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.*697T>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV000398220] Chr2:190056561 [GRCh38]
Chr2:190921287 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_005259.3(MSTN):c.*1145del deletion Myostatin-related muscle hypertrophy [RCV000338280] Chr2:190056113 [GRCh38]
Chr2:190920839 [GRCh37]
Chr2:2q32.2		 likely benign
NM_005259.3(MSTN):c.*742C>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV000339305] Chr2:190056516 [GRCh38]
Chr2:190921242 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.180C>T (p.Ile60=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000404459]|not provided [RCV000885041] Chr2:190062417 [GRCh38]
Chr2:190927143 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.*574G>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV000304618] Chr2:190056684 [GRCh38]
Chr2:190921410 [GRCh37]
Chr2:2q32.2		 likely benign
NM_005259.3(MSTN):c.*1514C>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV000385328] Chr2:190055744 [GRCh38]
Chr2:190920470 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.*493G>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV000363928] Chr2:190056765 [GRCh38]
Chr2:190921491 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.*273C>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV000365232] Chr2:190056985 [GRCh38]
Chr2:190921711 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.*290C>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV000310379] Chr2:190056968 [GRCh38]
Chr2:190921694 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.*1450T>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV000295685] Chr2:190055808 [GRCh38]
Chr2:190920534 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.*135G>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV000330435] Chr2:190057123 [GRCh38]
Chr2:190921849 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.-17A>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV000350365] Chr2:190062613 [GRCh38]
Chr2:190927339 [GRCh37]
Chr2:2q32.2		 benign|uncertain significance
NM_005259.3(MSTN):c.*1332A>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV000373119] Chr2:190055926 [GRCh38]
Chr2:190920652 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_005259.3(MSTN):c.*923T>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV000284237] Chr2:190056335 [GRCh38]
Chr2:190921061 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.*1073G>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV000405515] Chr2:190056185 [GRCh38]
Chr2:190920911 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.*121A>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV000371068] Chr2:190057137 [GRCh38]
Chr2:190921863 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_005259.3(MSTN):c.234A>G (p.Arg78=) single nucleotide variant not provided [RCV000594454] Chr2:190062363 [GRCh38]
Chr2:190927089 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 copy number loss not provided [RCV000740789] Chr2:189490490..200615496 [GRCh37]
Chr2:2q32.2-33.1		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3		 pathogenic
NM_005259.3(MSTN):c.*1063A>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV001137514] Chr2:190056195 [GRCh38]
Chr2:190920921 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.*695A>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV001137516] Chr2:190056563 [GRCh38]
Chr2:190921289 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NM_005259.3(MSTN):c.*40G>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV001140502] Chr2:190057218 [GRCh38]
Chr2:190921944 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.*784G>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV001137515] Chr2:190056474 [GRCh38]
Chr2:190921200 [GRCh37]
Chr2:2q32.2		 uncertain significance
NC_000002.11:g.(?_189839216)_(192012929_?)dup duplication Immunodeficiency 31B [RCV003107719]|not provided [RCV003113217] Chr2:189839216..192012929 [GRCh37]
Chr2:2q32.2-32.3		 uncertain significance|no classifications from unflagged records
NM_005259.3(MSTN):c.374-84A>T single nucleotide variant not provided [RCV001669126] Chr2:190060519 [GRCh38]
Chr2:190925245 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.798G>A (p.Arg266=) single nucleotide variant not provided [RCV000973312] Chr2:190057588 [GRCh38]
Chr2:190922314 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.1085G>A (p.Gly362Glu) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001140503] Chr2:190057301 [GRCh38]
Chr2:190922027 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.*1273C>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV001142257] Chr2:190055985 [GRCh38]
Chr2:190920711 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q32.2(chr2:190819533-191102271)x3 copy number gain not provided [RCV002473459] Chr2:190819533..191102271 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1 copy number loss not provided [RCV002472632] Chr2:187152754..199960525 [GRCh37]
Chr2:2q32.1-33.1		 pathogenic
NM_005259.3(MSTN):c.516A>C (p.Gln172His) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001142350] Chr2:190060293 [GRCh38]
Chr2:190925019 [GRCh37]
Chr2:2q32.2		 likely benign
NM_005259.3(MSTN):c.547G>C (p.Gly183Arg) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001142349] Chr2:190060262 [GRCh38]
Chr2:190924988 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.98T>C (p.Val33Ala) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001137605] Chr2:190062499 [GRCh38]
Chr2:190927225 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.*127T>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV001139725] Chr2:190057131 [GRCh38]
Chr2:190921857 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.-99G>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV001139829] Chr2:190062695 [GRCh38]
Chr2:190927421 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.897C>T (p.Ile299=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001140504] Chr2:190057489 [GRCh38]
Chr2:190922215 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.748-128C>T single nucleotide variant not provided [RCV001707942] Chr2:190057766 [GRCh38]
Chr2:190922492 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.453A>G (p.Val151=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001137604] Chr2:190060356 [GRCh38]
Chr2:190925082 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.*1316C>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV001142256] Chr2:190055942 [GRCh38]
Chr2:190920668 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.796A>C (p.Arg266=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001140505] Chr2:190057590 [GRCh38]
Chr2:190922316 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.513G>A (p.Val171=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001142351] Chr2:190060296 [GRCh38]
Chr2:190925022 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.747+8A>G single nucleotide variant MSTN-related condition [RCV003928739]|Myostatin-related muscle hypertrophy [RCV001142348] Chr2:190060054 [GRCh38]
Chr2:190924780 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.*336C>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV001139724] Chr2:190056922 [GRCh38]
Chr2:190921648 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV001255693] Chr2:190345272..200212289 [GRCh37]
Chr2:2q32.2-33.1		 pathogenic
GRCh37/hg19 2q32.2(chr2:190819442-190973244)x1 copy number loss not provided [RCV001258568] Chr2:190819442..190973244 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3 copy number gain not provided [RCV001258567] Chr2:188294864..197731939 [GRCh37]
Chr2:2q32.1-33.1		 likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_005259.3(MSTN):c.374-130G>A single nucleotide variant not provided [RCV001539260] Chr2:190060565 [GRCh38]
Chr2:190925291 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.373+90del deletion not provided [RCV001539856] Chr2:190062134 [GRCh38]
Chr2:190926860 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
NM_005259.3(MSTN):c.701G>A (p.Gly234Asp) single nucleotide variant Inborn genetic diseases [RCV002949902] Chr2:190060108 [GRCh38]
Chr2:190924834 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.739G>A (p.Asp247Asn) single nucleotide variant Inborn genetic diseases [RCV002693354] Chr2:190060070 [GRCh38]
Chr2:190924796 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.529A>C (p.Ile177Leu) single nucleotide variant Inborn genetic diseases [RCV002998356] Chr2:190060280 [GRCh38]
Chr2:190925006 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.89A>C (p.Lys30Thr) single nucleotide variant Inborn genetic diseases [RCV002768594] Chr2:190062508 [GRCh38]
Chr2:190927234 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.639A>C (p.Gln213His) single nucleotide variant Inborn genetic diseases [RCV002854314] Chr2:190060170 [GRCh38]
Chr2:190924896 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.496C>T (p.Pro166Ser) single nucleotide variant Inborn genetic diseases [RCV002699366] Chr2:190060313 [GRCh38]
Chr2:190925039 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.881G>C (p.Gly294Ala) single nucleotide variant Inborn genetic diseases [RCV002940178] Chr2:190057505 [GRCh38]
Chr2:190922231 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.1112G>A (p.Arg371His) single nucleotide variant Inborn genetic diseases [RCV002679322] Chr2:190057274 [GRCh38]
Chr2:190922000 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.916G>A (p.Ala306Thr) single nucleotide variant Inborn genetic diseases [RCV003216920] Chr2:190057470 [GRCh38]
Chr2:190922196 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.730C>G (p.Pro244Ala) single nucleotide variant Inborn genetic diseases [RCV003265503] Chr2:190060079 [GRCh38]
Chr2:190924805 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_005259.3(MSTN):c.150T>C (p.Ser50=) single nucleotide variant not provided [RCV003440109] Chr2:190062447 [GRCh38]
Chr2:190927173 [GRCh37]
Chr2:2q32.2		 likely benign
NM_005259.3(MSTN):c.194G>A (p.Arg65His) single nucleotide variant MSTN-related condition [RCV003964644] Chr2:190062403 [GRCh38]
Chr2:190927129 [GRCh37]
Chr2:2q32.2		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR27Ahsa-miR-27a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22640741

Predicted Target Of
Summary Value
Count of predictions:584
Count of miRNA genes:375
Interacting mature miRNAs:447
Transcripts:ENST00000260950
Prediction methods:Miranda, 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
GDF8_672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,920,383 - 190,921,279UniSTSGRCh37
Build 362190,628,628 - 190,629,524RGDNCBI36
Celera2184,515,314 - 184,516,210RGD
HuRef2182,780,390 - 182,781,286UniSTS
GDF8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372190,922,113 - 190,922,302UniSTSGRCh37
Celera2184,517,044 - 184,517,233UniSTS
HuRef2182,782,120 - 182,782,309UniSTS


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
Medium 1 2 2 2 1 23 21 24 1 4 2 17
Low 1231 1089 1118 109 234 35 2931 1220 2807 194 954 896 75 1 873 2016 1 1
Below cutoff 1129 1349 548 461 864 375 1211 921 870 149 396 571 90 331 753 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC073120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF019627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF104922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX093210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ927191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC889206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ436933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000260950   ⟹   ENSP00000260950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,055,700 - 190,062,729 (-)Ensembl
RefSeq Acc Id: NM_005259   ⟹   NP_005250
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,055,700 - 190,062,729 (-)NCBI
GRCh372190,920,426 - 190,927,455 (-)ENTREZGENE
Build 362190,628,671 - 190,635,700 (-)NCBI Archive
HuRef2182,780,433 - 182,787,462 (-)ENTREZGENE
CHM1_12190,926,378 - 190,933,407 (-)NCBI
T2T-CHM13v2.02190,545,060 - 190,552,089 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_005250 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB86694 (Get FASTA)   NCBI Sequence Viewer  
  AAC96327 (Get FASTA)   NCBI Sequence Viewer  
  AAH74757 (Get FASTA)   NCBI Sequence Viewer  
  AAY24188 (Get FASTA)   NCBI Sequence Viewer  
  ABI48369 (Get FASTA)   NCBI Sequence Viewer  
  ABI48370 (Get FASTA)   NCBI Sequence Viewer  
  ABI48371 (Get FASTA)   NCBI Sequence Viewer  
  ABI48372 (Get FASTA)   NCBI Sequence Viewer  
  ABI48373 (Get FASTA)   NCBI Sequence Viewer  
  ABI48374 (Get FASTA)   NCBI Sequence Viewer  
  ABI48375 (Get FASTA)   NCBI Sequence Viewer  
  ABI48376 (Get FASTA)   NCBI Sequence Viewer  
  ABI48377 (Get FASTA)   NCBI Sequence Viewer  
  ABI48378 (Get FASTA)   NCBI Sequence Viewer  
  ABI48379 (Get FASTA)   NCBI Sequence Viewer  
  ABI48380 (Get FASTA)   NCBI Sequence Viewer  
  ABI48381 (Get FASTA)   NCBI Sequence Viewer  
  ABI48382 (Get FASTA)   NCBI Sequence Viewer  
  ABI48383 (Get FASTA)   NCBI Sequence Viewer  
  ABI48384 (Get FASTA)   NCBI Sequence Viewer  
  ABI48385 (Get FASTA)   NCBI Sequence Viewer  
  ABI48386 (Get FASTA)   NCBI Sequence Viewer  
  ABI48387 (Get FASTA)   NCBI Sequence Viewer  
  ABI48388 (Get FASTA)   NCBI Sequence Viewer  
  ABI48389 (Get FASTA)   NCBI Sequence Viewer  
  ABI48390 (Get FASTA)   NCBI Sequence Viewer  
  ABI48391 (Get FASTA)   NCBI Sequence Viewer  
  ABI48392 (Get FASTA)   NCBI Sequence Viewer  
  ABI48393 (Get FASTA)   NCBI Sequence Viewer  
  ABI48394 (Get FASTA)   NCBI Sequence Viewer  
  ABI48395 (Get FASTA)   NCBI Sequence Viewer  
  ABI48396 (Get FASTA)   NCBI Sequence Viewer  
  ABI48397 (Get FASTA)   NCBI Sequence Viewer  
  ABI48398 (Get FASTA)   NCBI Sequence Viewer  
  ABI48399 (Get FASTA)   NCBI Sequence Viewer  
  ABI48400 (Get FASTA)   NCBI Sequence Viewer  
  ABI48401 (Get FASTA)   NCBI Sequence Viewer  
  ABI48402 (Get FASTA)   NCBI Sequence Viewer  
  ABI48403 (Get FASTA)   NCBI Sequence Viewer  
  ABI48404 (Get FASTA)   NCBI Sequence Viewer  
  ABI48405 (Get FASTA)   NCBI Sequence Viewer  
  ABI48406 (Get FASTA)   NCBI Sequence Viewer  
  ABI48407 (Get FASTA)   NCBI Sequence Viewer  
  ABI48408 (Get FASTA)   NCBI Sequence Viewer  
  ABI48409 (Get FASTA)   NCBI Sequence Viewer  
  ABI48410 (Get FASTA)   NCBI Sequence Viewer  
  ABI48411 (Get FASTA)   NCBI Sequence Viewer  
  ABI48412 (Get FASTA)   NCBI Sequence Viewer  
  ABI48413 (Get FASTA)   NCBI Sequence Viewer  
  ABI48414 (Get FASTA)   NCBI Sequence Viewer  
  ABI48415 (Get FASTA)   NCBI Sequence Viewer  
  ABI48416 (Get FASTA)   NCBI Sequence Viewer  
  ABI48417 (Get FASTA)   NCBI Sequence Viewer  
  ABI48418 (Get FASTA)   NCBI Sequence Viewer  
  ABI48419 (Get FASTA)   NCBI Sequence Viewer  
  ABI48420 (Get FASTA)   NCBI Sequence Viewer  
  ABI48421 (Get FASTA)   NCBI Sequence Viewer  
  ABI48422 (Get FASTA)   NCBI Sequence Viewer  
  ABI48423 (Get FASTA)   NCBI Sequence Viewer  
  ABI48424 (Get FASTA)   NCBI Sequence Viewer  
  ABI48425 (Get FASTA)   NCBI Sequence Viewer  
  ABI48426 (Get FASTA)   NCBI Sequence Viewer  
  ABI48427 (Get FASTA)   NCBI Sequence Viewer  
  ABI48428 (Get FASTA)   NCBI Sequence Viewer  
  ABI48429 (Get FASTA)   NCBI Sequence Viewer  
  ABI48430 (Get FASTA)   NCBI Sequence Viewer  
  ABI48431 (Get FASTA)   NCBI Sequence Viewer  
  ABI48432 (Get FASTA)   NCBI Sequence Viewer  
  ABI48433 (Get FASTA)   NCBI Sequence Viewer  
  ABI48434 (Get FASTA)   NCBI Sequence Viewer  
  ABI48435 (Get FASTA)   NCBI Sequence Viewer  
  ABI48436 (Get FASTA)   NCBI Sequence Viewer  
  ABI48437 (Get FASTA)   NCBI Sequence Viewer  
  ABI48438 (Get FASTA)   NCBI Sequence Viewer  
  ABI48439 (Get FASTA)   NCBI Sequence Viewer  
  ABI48440 (Get FASTA)   NCBI Sequence Viewer  
  ABI48441 (Get FASTA)   NCBI Sequence Viewer  
  ABI48442 (Get FASTA)   NCBI Sequence Viewer  
  ABI48443 (Get FASTA)   NCBI Sequence Viewer  
  ABI48444 (Get FASTA)   NCBI Sequence Viewer  
  ABI48445 (Get FASTA)   NCBI Sequence Viewer  
  ABI48446 (Get FASTA)   NCBI Sequence Viewer  
  ABI48447 (Get FASTA)   NCBI Sequence Viewer  
  ABI48448 (Get FASTA)   NCBI Sequence Viewer  
  ABI48449 (Get FASTA)   NCBI Sequence Viewer  
  ABI48450 (Get FASTA)   NCBI Sequence Viewer  
  ABI48451 (Get FASTA)   NCBI Sequence Viewer  
  ABI48452 (Get FASTA)   NCBI Sequence Viewer  
  ABI48453 (Get FASTA)   NCBI Sequence Viewer  
  ABI48454 (Get FASTA)   NCBI Sequence Viewer  
  ABI48455 (Get FASTA)   NCBI Sequence Viewer  
  ABI48456 (Get FASTA)   NCBI Sequence Viewer  
  ABI48457 (Get FASTA)   NCBI Sequence Viewer  
  ABI48458 (Get FASTA)   NCBI Sequence Viewer  
  ABI48459 (Get FASTA)   NCBI Sequence Viewer  
  ABI48460 (Get FASTA)   NCBI Sequence Viewer  
  ABI48461 (Get FASTA)   NCBI Sequence Viewer  
  ABI48462 (Get FASTA)   NCBI Sequence Viewer  
  ABI48463 (Get FASTA)   NCBI Sequence Viewer  
  ABI48464 (Get FASTA)   NCBI Sequence Viewer  
  ABI48465 (Get FASTA)   NCBI Sequence Viewer  
  ABI48466 (Get FASTA)   NCBI Sequence Viewer  
  ABI48467 (Get FASTA)   NCBI Sequence Viewer  
  ABI48468 (Get FASTA)   NCBI Sequence Viewer  
  ABI48469 (Get FASTA)   NCBI Sequence Viewer  
  ABI48470 (Get FASTA)   NCBI Sequence Viewer  
  ABI48471 (Get FASTA)   NCBI Sequence Viewer  
  ABI48472 (Get FASTA)   NCBI Sequence Viewer  
  ABI48473 (Get FASTA)   NCBI Sequence Viewer  
  ABI48474 (Get FASTA)   NCBI Sequence Viewer  
  ABI48475 (Get FASTA)   NCBI Sequence Viewer  
  ABI48476 (Get FASTA)   NCBI Sequence Viewer  
  ABI48477 (Get FASTA)   NCBI Sequence Viewer  
  ABI48478 (Get FASTA)   NCBI Sequence Viewer  
  ABI48479 (Get FASTA)   NCBI Sequence Viewer  
  ABI48480 (Get FASTA)   NCBI Sequence Viewer  
  ABI48481 (Get FASTA)   NCBI Sequence Viewer  
  ABI48482 (Get FASTA)   NCBI Sequence Viewer  
  ABI48483 (Get FASTA)   NCBI Sequence Viewer  
  ABI48484 (Get FASTA)   NCBI Sequence Viewer  
  ABI48485 (Get FASTA)   NCBI Sequence Viewer  
  ABI48486 (Get FASTA)   NCBI Sequence Viewer  
  ABI48487 (Get FASTA)   NCBI Sequence Viewer  
  ABI48488 (Get FASTA)   NCBI Sequence Viewer  
  ABI48489 (Get FASTA)   NCBI Sequence Viewer  
  ABI48490 (Get FASTA)   NCBI Sequence Viewer  
  ABI48491 (Get FASTA)   NCBI Sequence Viewer  
  ABI48492 (Get FASTA)   NCBI Sequence Viewer  
  ABI48493 (Get FASTA)   NCBI Sequence Viewer  
  ABI48494 (Get FASTA)   NCBI Sequence Viewer  
  ABI48495 (Get FASTA)   NCBI Sequence Viewer  
  ABI48496 (Get FASTA)   NCBI Sequence Viewer  
  ABI48497 (Get FASTA)   NCBI Sequence Viewer  
  ABI48498 (Get FASTA)   NCBI Sequence Viewer  
  ABI48499 (Get FASTA)   NCBI Sequence Viewer  
  ABI48500 (Get FASTA)   NCBI Sequence Viewer  
  ABI48501 (Get FASTA)   NCBI Sequence Viewer  
  ABI48502 (Get FASTA)   NCBI Sequence Viewer  
  ABI48503 (Get FASTA)   NCBI Sequence Viewer  
  ABI48504 (Get FASTA)   NCBI Sequence Viewer  
  ABI48505 (Get FASTA)   NCBI Sequence Viewer  
  ABI48506 (Get FASTA)   NCBI Sequence Viewer  
  ABI48507 (Get FASTA)   NCBI Sequence Viewer  
  ABI48508 (Get FASTA)   NCBI Sequence Viewer  
  ABI48509 (Get FASTA)   NCBI Sequence Viewer  
  ABI48510 (Get FASTA)   NCBI Sequence Viewer  
  ABI48511 (Get FASTA)   NCBI Sequence Viewer  
  ABI48512 (Get FASTA)   NCBI Sequence Viewer  
  ABI48513 (Get FASTA)   NCBI Sequence Viewer  
  ABI48514 (Get FASTA)   NCBI Sequence Viewer  
  BAF84213 (Get FASTA)   NCBI Sequence Viewer  
  CBM42951 (Get FASTA)   NCBI Sequence Viewer  
  EAX10880 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000260950
  ENSP00000260950.3
GenBank Protein O14793 (Get FASTA)   NCBI Sequence Viewer  
  UQT28931 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005250   ⟸   NM_005259
- Peptide Label: preproprotein
- UniProtKB: A1C2K0 (UniProtKB/Swiss-Prot),   A1C2J7 (UniProtKB/Swiss-Prot),   Q6B0H2 (UniProtKB/Swiss-Prot),   O14793 (UniProtKB/Swiss-Prot),   Q53S46 (UniProtKB/TrEMBL),   A1C2E8 (UniProtKB/TrEMBL),   A1C2F0 (UniProtKB/TrEMBL),   A1C2G4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000260950   ⟸   ENST00000260950
Protein Domains
TGF-beta family profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14793-F1-model_v2 AlphaFold O14793 1-375 view protein structure

Promoters
RGD ID:6862336
Promoter ID:EPDNEW_H4333
Type:initiation region
Name:MSTN_1
Description:myostatin
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
GRCh382190,062,729 - 190,062,789EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4223 AgrOrtholog
COSMIC MSTN COSMIC
Ensembl Genes ENSG00000138379 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000260950 ENTREZGENE
  ENST00000260950.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.970 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138379 GTEx
HGNC ID HGNC:4223 ENTREZGENE
Human Proteome Map MSTN Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-beta-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2660 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2660 ENTREZGENE
OMIM 601788 OMIM
PANTHER PTHR11848 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11848:SF150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TGF_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162396253 PharmGKB
PROSITE TGF_BETA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF_BETA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TGFB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1C2E8 ENTREZGENE, UniProtKB/TrEMBL
  A1C2F0 ENTREZGENE, UniProtKB/TrEMBL
  A1C2G4 ENTREZGENE
  A1C2J7 ENTREZGENE
  A1C2K0 ENTREZGENE
  GDF8_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53S46 ENTREZGENE, UniProtKB/TrEMBL
  Q6B0H2 ENTREZGENE
UniProt Secondary A1C2G4 UniProtKB/TrEMBL
  A1C2J7 UniProtKB/Swiss-Prot
  A1C2K0 UniProtKB/Swiss-Prot
  Q6B0H2 UniProtKB/Swiss-Prot