MYOCD (myocardin) - Rat Genome Database

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Gene: MYOCD (myocardin) Homo sapiens
Analyze
Symbol: MYOCD
Name: myocardin
RGD ID: 1344327
HGNC Page HGNC:16067
Description: Enables DNA-binding transcription factor binding activity and transcription coactivator activity. Involved in several processes, including cardiac muscle cell myoblast differentiation; negative regulation of amyloid-beta clearance; and positive regulation of muscle cell differentiation. Located in nucleus. Implicated in congenital megabladder. Biomarker of aortic atherosclerosis and dilated cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGBL; MYCD
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
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381712,665,890 - 12,768,949 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1712,665,890 - 12,768,949 (+)EnsemblGRCh38hg38GRCh38
GRCh371712,569,207 - 12,672,266 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361712,510,231 - 12,607,686 (+)NCBINCBI36Build 36hg18NCBI36
Build 341712,510,230 - 12,607,686NCBI
Celera1712,594,549 - 12,695,987 (+)NCBICelera
Cytogenetic Map17p12NCBI
HuRef1712,464,600 - 12,566,080 (+)NCBIHuRef
CHM1_11712,577,982 - 12,679,406 (+)NCBICHM1_1
T2T-CHM13v2.01712,573,362 - 12,676,444 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cardiac muscle cell apoptotic process  (IEA,ISO)
cardiac muscle cell differentiation  (IBA,IEA,ISO,ISS)
cardiac muscle cell myoblast differentiation  (IDA)
cardiac vascular smooth muscle cell differentiation  (ISS)
cardiac ventricle development  (IEA,ISO)
cardiocyte differentiation  (NAS)
cell growth involved in cardiac muscle cell development  (ISO)
cellular component maintenance  (IEA,ISO)
cellular response to angiotensin  (ISO)
cellular response to growth factor stimulus  (ISO)
cellular response to hypoxia  (ISO)
chromatin organization  (IEA,ISO)
digestive tract development  (IEA,ISO)
ductus arteriosus closure  (IEA,ISO)
heart development  (IEA,ISO)
hepatic stellate cell activation  (ISO)
lung alveolus development  (IEA,ISO)
negative regulation of amyloid-beta clearance  (IMP)
negative regulation of cardiac muscle cell apoptotic process  (IEA,ISO)
negative regulation of cell adhesion molecule production  (IEA,ISO)
negative regulation of cell population proliferation  (IDA)
negative regulation of myotube differentiation  (IEA,ISO)
negative regulation of platelet-derived growth factor receptor-beta signaling pathway  (IEA)
negative regulation of skeletal muscle cell differentiation  (IDA)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
negative regulation of vascular associated smooth muscle cell migration  (IEA)
negative regulation of vascular associated smooth muscle cell proliferation  (IEA)
positive regulation of cardiac muscle cell differentiation  (IDA)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of DNA-templated transcription  (IDA,IEA,ISO)
positive regulation of epithelial to mesenchymal transition  (ISO)
positive regulation of gene expression  (IEA)
positive regulation of miRNA transcription  (IEA)
positive regulation of smooth muscle cell differentiation  (IDA)
positive regulation of smooth muscle contraction  (IDA)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,ISO)
positive regulation of transforming growth factor beta receptor signaling pathway  (IEA)
positive regulation of vascular associated smooth muscle cell migration  (ISO)
regulation of cell growth by extracellular stimulus  (IEA,ISO)
regulation of myoblast differentiation  (IEA,ISO)
regulation of phenotypic switching  (IEA)
regulation of smooth muscle cell differentiation  (ISO,TAS)
regulation of transcription by RNA polymerase II  (IEA,ISO)
response to hypoxia  (IEP)
response to mechanical stimulus  (ISO)
response to muscle stretch  (ISO)
smooth muscle cell differentiation  (IBA,IDA,IEA,IMP,ISO)
transcription by RNA polymerase II  (IEA,ISO)
transcription initiation-coupled chromatin remodeling  (IEA,ISS)
urinary bladder development  (IEA,IMP,ISO)
uterus development  (IEA,ISO)
vascular associated smooth muscle cell differentiation  (IEA)
vasculogenesis  (IEA,ISO)
ventricular cardiac muscle cell differentiation  (IEA,ISO)

Cellular Component
chromatin  (IEA)
cytoplasm  (ISO)
nucleus  (IBA,IDA,IEA)
protein-DNA complex  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Myocardin regulates BMP10 expression and is required for heart development. Huang J, etal., J Clin Invest. 2012 Oct;122(10):3678-91. doi: 10.1172/JCI63635. Epub 2012 Sep 17.
3. Myocardin is required for cardiomyocyte survival and maintenance of heart function. Huang J, etal., Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18734-9. doi: 10.1073/pnas.0910749106. Epub 2009 Oct 22.
4. Myocardin gene regulatory variants as surrogate markers of cardiac hypertrophy - study in a genetically homogeneous population. Kontaraki JE, etal., Clin Genet. 2008 Jan;73(1):71-8. doi: 10.1111/j.1399-0004.2007.00932.x. Epub 2007 Nov 19.
5. Effects of flavonoids on MicroRNA 145 regulation through Klf4 and myocardin in neointimal formation in vitro and in vivo. Lin CM, etal., J Nutr Biochem. 2018 Feb;52:27-35. doi: 10.1016/j.jnutbio.2017.08.016. Epub 2017 Sep 14.
6. Myocardin ablation in a cardiac-renal rat model. Mittal A, etal., Sci Rep. 2019 Apr 10;9(1):5872. doi: 10.1038/s41598-019-42009-z.
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. Myocardin mRNA is augmented in the failing myocardium: expression profiling in the porcine model and human dilated cardiomyopathy. Torrado M, etal., J Mol Med (Berl). 2003 Sep;81(9):566-77. doi: 10.1007/s00109-003-0470-7. Epub 2003 Aug 13.
11. Myocardin suppression increases lipid retention and atherosclerosis via downregulation of ABCA1 in vascular smooth muscle cells. Xia XD, etal., Biochim Biophys Acta Mol Cell Biol Lipids. 2021 Apr;1866(4):158824. doi: 10.1016/j.bbalip.2020.158824. Epub 2020 Oct 7.
12. Regulation of smooth muscle contractility by competing endogenous mRNAs in intracranial aneurysms. Zhang M, etal., J Neuropathol Exp Neurol. 2015 May;74(5):411-24. doi: 10.1097/NEN.0000000000000185.
Additional References at PubMed
PMID:11439182   PMID:12397177   PMID:12477932   PMID:12640126   PMID:12756293   PMID:14702039   PMID:14970199   PMID:15014501   PMID:15907818   PMID:16054032   PMID:16141410   PMID:16151017  
PMID:16224064   PMID:16344560   PMID:16625196   PMID:16818234   PMID:17215356   PMID:17292825   PMID:17360478   PMID:17430246   PMID:17579192   PMID:17620599   PMID:17938287   PMID:17940050  
PMID:17991879   PMID:18451334   PMID:18772130   PMID:18852265   PMID:19098903   PMID:19156129   PMID:19237536   PMID:19276386   PMID:19342595   PMID:19578358   PMID:19776005   PMID:19797053  
PMID:19801679   PMID:19883264   PMID:19952936   PMID:20068148   PMID:20379614   PMID:20385216   PMID:20458751   PMID:20560679   PMID:20848417   PMID:21051663   PMID:21506120   PMID:21873635  
PMID:21984848   PMID:22075245   PMID:22157009   PMID:22666593   PMID:22675492   PMID:22843699   PMID:22850315   PMID:22937150   PMID:23175675   PMID:23342164   PMID:23671695   PMID:23704920  
PMID:23861494   PMID:24060351   PMID:24344135   PMID:24607789   PMID:24667918   PMID:24681789   PMID:25190111   PMID:25384061   PMID:25416956   PMID:25614278   PMID:26077572   PMID:26100622  
PMID:26129946   PMID:26181633   PMID:26244347   PMID:27144530   PMID:27156566   PMID:27403897   PMID:27571517   PMID:28342807   PMID:28572685   PMID:28631251   PMID:30575818   PMID:30605348  
PMID:31513549   PMID:31515488   PMID:31741433   PMID:31815603   PMID:32029901   PMID:32039481   PMID:32885587   PMID:34694145   PMID:35136037   PMID:35913515   PMID:38349126  


Genomics

Comparative Map Data
MYOCD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381712,665,890 - 12,768,949 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1712,665,890 - 12,768,949 (+)EnsemblGRCh38hg38GRCh38
GRCh371712,569,207 - 12,672,266 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361712,510,231 - 12,607,686 (+)NCBINCBI36Build 36hg18NCBI36
Build 341712,510,230 - 12,607,686NCBI
Celera1712,594,549 - 12,695,987 (+)NCBICelera
Cytogenetic Map17p12NCBI
HuRef1712,464,600 - 12,566,080 (+)NCBIHuRef
CHM1_11712,577,982 - 12,679,406 (+)NCBICHM1_1
T2T-CHM13v2.01712,573,362 - 12,676,444 (+)NCBIT2T-CHM13v2.0
Myocd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391165,064,434 - 65,160,821 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1165,067,387 - 65,160,815 (-)EnsemblGRCm39 Ensembl
GRCm381165,173,608 - 65,269,989 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1165,176,561 - 65,269,989 (-)EnsemblGRCm38mm10GRCm38
MGSCv371164,990,063 - 65,083,491 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361164,992,756 - 65,086,175 (-)NCBIMGSCv36mm8
Celera1172,112,506 - 72,207,425 (-)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1140.42NCBI
Myocd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81050,332,356 - 50,426,819 (-)NCBIGRCr8
mRatBN7.21049,833,219 - 49,928,806 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1049,836,641 - 49,927,627 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1054,505,304 - 54,596,319 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01053,995,291 - 54,086,296 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01049,509,995 - 49,600,991 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01051,682,053 - 51,781,458 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1051,683,540 - 51,778,986 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01051,439,727 - 51,534,567 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41051,496,223 - 51,588,226 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11051,509,851 - 51,601,849 (-)NCBI
Celera1049,052,568 - 49,143,747 (-)NCBICelera
Cytogenetic Map10q24NCBI
Myocd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554674,656,380 - 4,743,110 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554674,653,065 - 4,743,438 (-)NCBIChiLan1.0ChiLan1.0
MYOCD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21960,982,668 - 61,082,874 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11765,789,278 - 65,889,518 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01738,880,120 - 38,983,246 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11743,578,967 - 43,681,659 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1743,584,259 - 43,681,659 (-)Ensemblpanpan1.1panPan2
MYOCD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1536,674,476 - 36,774,435 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl536,674,300 - 36,769,327 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha536,774,863 - 36,918,323 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0536,738,753 - 36,883,183 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl536,782,154 - 36,879,172 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1536,711,643 - 36,856,024 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0536,659,301 - 36,802,936 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0536,843,479 - 36,993,391 (+)NCBIUU_Cfam_GSD_1.0
Myocd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560251,782,304 - 51,881,336 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365955,256,785 - 5,351,723 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365955,256,615 - 5,356,563 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYOCD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1256,931,317 - 57,029,258 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11256,931,628 - 57,029,258 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21259,928,695 - 59,945,526 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MYOCD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11611,923,464 - 12,100,897 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1612,000,197 - 12,095,552 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660599,137,934 - 9,239,568 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Myocd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624877618,789 - 647,471 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MYOCD
96 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001146312.2(MYOCD):c.416-4585C>A single nucleotide variant Lung cancer [RCV000100355] Chr17:12731576 [GRCh38]
Chr17:12634893 [GRCh37]
Chr17:17p12
uncertain significance
GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3 copy number gain See cases [RCV000052476] Chr17:10892259..17964282 [GRCh38]
Chr17:10795576..17867596 [GRCh37]
Chr17:10736301..17808321 [NCBI36]
Chr17:17p12-11.2
pathogenic
NM_001146312.2(MYOCD):c.367G>A (p.Glu123Lys) single nucleotide variant Malignant melanoma [RCV000071333] Chr17:12722960 [GRCh38]
Chr17:12626277 [GRCh37]
Chr17:12567002 [NCBI36]
Chr17:17p12
not provided
NM_001146312.3(MYOCD):c.659C>T (p.Ala220Val) single nucleotide variant Inborn genetic diseases [RCV003342430] Chr17:12739270 [GRCh38]
Chr17:12642587 [GRCh37]
Chr17:12583312 [NCBI36]
Chr17:17p12
uncertain significance|not provided
NM_001146312.2(MYOCD):c.688A>C (p.Thr230Pro) single nucleotide variant Malignant melanoma [RCV000071335] Chr17:12739299 [GRCh38]
Chr17:12642616 [GRCh37]
Chr17:12583341 [NCBI36]
Chr17:17p12
not provided
NM_001146312.2(MYOCD):c.1125G>A (p.Lys375=) single nucleotide variant Malignant melanoma [RCV000071336] Chr17:12746072 [GRCh38]
Chr17:12649389 [GRCh37]
Chr17:12590114 [NCBI36]
Chr17:17p12
not provided
NM_001146312.2(MYOCD):c.1371G>A (p.Pro457=) single nucleotide variant Malignant melanoma [RCV000071337] Chr17:12752659 [GRCh38]
Chr17:12655976 [GRCh37]
Chr17:12596701 [NCBI36]
Chr17:17p12
not provided
NM_001146312.2(MYOCD):c.1494G>A (p.Met498Ile) single nucleotide variant Malignant melanoma [RCV000071338] Chr17:12752782 [GRCh38]
Chr17:12656099 [GRCh37]
Chr17:12596824 [NCBI36]
Chr17:17p12
not provided
NM_001146312.2(MYOCD):c.1662G>A (p.Arg554=) single nucleotide variant Malignant melanoma [RCV000071339] Chr17:12752950 [GRCh38]
Chr17:12656267 [GRCh37]
Chr17:12596992 [NCBI36]
Chr17:17p12
not provided
NM_001146312.2(MYOCD):c.2597G>A (p.Gly866Glu) single nucleotide variant Malignant melanoma [RCV000071340] Chr17:12763280 [GRCh38]
Chr17:12666597 [GRCh37]
Chr17:12607322 [NCBI36]
Chr17:17p12
not provided
NM_001146312.2(MYOCD):c.973G>A (p.Glu325Lys) single nucleotide variant Malignant melanoma [RCV000063141] Chr17:12745920 [GRCh38]
Chr17:12649237 [GRCh37]
Chr17:12589962 [NCBI36]
Chr17:17p12
not provided
NM_001146312.2(MYOCD):c.1828G>A (p.Gly610Arg) single nucleotide variant Malignant melanoma [RCV000063142] Chr17:12753116 [GRCh38]
Chr17:12656433 [GRCh37]
Chr17:12597158 [NCBI36]
Chr17:17p12
not provided
NM_001146312.3(MYOCD):c.543C>T (p.Asp181=) single nucleotide variant not provided [RCV000087186] Chr17:12736288 [GRCh38]
Chr17:12639605 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2678del (p.Lys893fs) deletion Malignant tumor of prostate [RCV000149360] Chr17:12763360 [GRCh38]
Chr17:12666677 [GRCh37]
Chr17:17p12
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
NM_001146312.3(MYOCD):c.1252A>G (p.Ile418Val) single nucleotide variant Seizure [RCV000162186]|not specified [RCV002247560] Chr17:12752540 [GRCh38]
Chr17:12655857 [GRCh37]
Chr17:17p12
likely pathogenic|benign
Single allele complex Breast ductal adenocarcinoma [RCV000207129] Chr17:9586165..16325968 [GRCh37]
Chr17:17p13.1-11.2
uncertain significance
GRCh37/hg19 17p12(chr17:11225886-12623364)x3 copy number gain See cases [RCV000449472] Chr17:11225886..12623364 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 copy number loss See cases [RCV000447345] Chr17:10771948..21510992 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
NM_001146312.3(MYOCD):c.2000C>T (p.Ala667Val) single nucleotide variant Inborn genetic diseases [RCV003280778] Chr17:12753288 [GRCh38]
Chr17:12656605 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_001146312.3(MYOCD):c.2058+151C>A single nucleotide variant not provided [RCV001668019] Chr17:12753497 [GRCh38]
Chr17:12656814 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.1812T>C (p.Ala604=) single nucleotide variant not provided [RCV001693589] Chr17:12753100 [GRCh38]
Chr17:12656417 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.1941G>C (p.Gln647His) single nucleotide variant not provided [RCV001666304] Chr17:12753229 [GRCh38]
Chr17:12656546 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.2332-246G>T single nucleotide variant not provided [RCV001690430] Chr17:12760404 [GRCh38]
Chr17:12663721 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.253+159G>A single nucleotide variant not provided [RCV001609743] Chr17:12717580 [GRCh38]
Chr17:12620897 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.1447G>A (p.Gly483Ser) single nucleotide variant not provided [RCV000879144] Chr17:12752735 [GRCh38]
Chr17:12656052 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.423G>A (p.Gln141=) single nucleotide variant not provided [RCV000959948] Chr17:12736168 [GRCh38]
Chr17:12639485 [GRCh37]
Chr17:17p12
benign
MYOCD, 1-BP DEL, NT1053 deletion MEGABLADDER, CONGENITAL [RCV000984631] Chr17:17p12 pathogenic
NM_001146312.3(MYOCD):c.2721C>G (p.Gly907=) single nucleotide variant not provided [RCV000961480] Chr17:12763404 [GRCh38]
Chr17:12666721 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.226G>A (p.Asp76Asn) single nucleotide variant not provided [RCV000947769] Chr17:12717394 [GRCh38]
Chr17:12620711 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.2739G>A (p.Gln913=) single nucleotide variant not provided [RCV000961481] Chr17:12763422 [GRCh38]
Chr17:12666739 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.343C>T (p.Arg115Ter) single nucleotide variant Megabladder, congenital [RCV000984630]|Prune belly syndrome [RCV000850243] Chr17:12722936 [GRCh38]
Chr17:12626253 [GRCh37]
Chr17:17p12
pathogenic
NM_001146312.3(MYOCD):c.1053_1054del (p.Asn351fs) deletion Megabladder, congenital [RCV000984631]|Prune belly syndrome [RCV000850244] Chr17:12745999..12746000 [GRCh38]
Chr17:12649316..12649317 [GRCh37]
Chr17:17p12
pathogenic
NC_000017.11:g.12269251_12706280del deletion Megabladder, congenital [RCV000984632]|Prune belly syndrome [RCV000850245] Chr17:12269251..12706280 [GRCh38]
Chr17:12172568..12609597 [GRCh37]
Chr17:17p12
pathogenic
NM_001146312.3(MYOCD):c.416-184T>C single nucleotide variant not provided [RCV001595279] Chr17:12735977 [GRCh38]
Chr17:12639294 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.2332-271G>A single nucleotide variant not provided [RCV001686782] Chr17:12760379 [GRCh38]
Chr17:12663696 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.2389+297_2389+300del microsatellite not provided [RCV001680797] Chr17:12761000..12761003 [GRCh38]
Chr17:12664317..12664320 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.718-92A>G single nucleotide variant not provided [RCV001597815] Chr17:12744091 [GRCh38]
Chr17:12647408 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.-64G>A single nucleotide variant not provided [RCV001598082] Chr17:12666125 [GRCh38]
Chr17:12569442 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.253+23A>G single nucleotide variant not provided [RCV001611055] Chr17:12717444 [GRCh38]
Chr17:12620761 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.2389+153T>C single nucleotide variant not provided [RCV001693051] Chr17:12760860 [GRCh38]
Chr17:12664177 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.2058+152C>T single nucleotide variant not provided [RCV001674834] Chr17:12753498 [GRCh38]
Chr17:12656815 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.1917G>A (p.Pro639=) single nucleotide variant not provided [RCV000885410] Chr17:12753205 [GRCh38]
Chr17:12656522 [GRCh37]
Chr17:17p12
likely benign
NM_001146312.3(MYOCD):c.2634C>T (p.Ser878=) single nucleotide variant not provided [RCV000961479] Chr17:12763317 [GRCh38]
Chr17:12666634 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.2118C>T (p.His706=) single nucleotide variant not provided [RCV000968491] Chr17:12756473 [GRCh38]
Chr17:12659790 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.971+3_971+6del microsatellite Megabladder, congenital [RCV001807686] Chr17:12744434..12744437 [GRCh38]
Chr17:12647751..12647754 [GRCh37]
Chr17:17p12
likely pathogenic
NM_001146312.3(MYOCD):c.122-156G>C single nucleotide variant not provided [RCV001677870] Chr17:12715363 [GRCh38]
Chr17:12618680 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.718-10T>C single nucleotide variant not provided [RCV001539501] Chr17:12744173 [GRCh38]
Chr17:12647490 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.2202+232G>A single nucleotide variant not provided [RCV001678070] Chr17:12756789 [GRCh38]
Chr17:12660106 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.717+245T>C single nucleotide variant not provided [RCV001676075] Chr17:12739573 [GRCh38]
Chr17:12642890 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.1506T>C (p.Asn502=) single nucleotide variant not provided [RCV001617993] Chr17:12752794 [GRCh38]
Chr17:12656111 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.122-209_122-208insCT insertion not provided [RCV001595990] Chr17:12715310..12715311 [GRCh38]
Chr17:12618627..12618628 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.2059-232C>T single nucleotide variant not provided [RCV001676507] Chr17:12756182 [GRCh38]
Chr17:12659499 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.2332-126C>T single nucleotide variant not provided [RCV001685735] Chr17:12760524 [GRCh38]
Chr17:12663841 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.254-238G>A single nucleotide variant not provided [RCV001651855] Chr17:12722609 [GRCh38]
Chr17:12625926 [GRCh37]
Chr17:17p12
benign
GRCh37/hg19 17p13.1-12(chr17:10493837-15099023)x1 copy number loss See cases [RCV001195076] Chr17:10493837..15099023 [GRCh37]
Chr17:17p13.1-12
uncertain significance
NC_000017.11:g.12665754T>C single nucleotide variant not provided [RCV001662899] Chr17:12665754 [GRCh38]
Chr17:12569071 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.1125+271G>A single nucleotide variant not provided [RCV001612563] Chr17:12746343 [GRCh38]
Chr17:12649660 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.2058+48G>A single nucleotide variant not provided [RCV001613640] Chr17:12753394 [GRCh38]
Chr17:12656711 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.592-253TA[5] microsatellite not provided [RCV001670094] Chr17:12738950..12738951 [GRCh38]
Chr17:12642267..12642268 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.56-174T>C single nucleotide variant not provided [RCV001539786] Chr17:12704954 [GRCh38]
Chr17:12608271 [GRCh37]
Chr17:17p12
benign
NC_000017.11:g.12665560A>T single nucleotide variant not provided [RCV001716375] Chr17:12665560 [GRCh38]
Chr17:12568877 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.971+235T>C single nucleotide variant not provided [RCV001710942] Chr17:12744671 [GRCh38]
Chr17:12647988 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.506G>A (p.Ser169Asn) single nucleotide variant Inborn genetic diseases [RCV002543917]|Megabladder, congenital [RCV001733546] Chr17:12736251 [GRCh38]
Chr17:12639568 [GRCh37]
Chr17:17p12
likely benign|uncertain significance
NM_001146312.3(MYOCD):c.1439C>A (p.Pro480His) single nucleotide variant Inborn genetic diseases [RCV003199161] Chr17:12752727 [GRCh38]
Chr17:12656044 [GRCh37]
Chr17:17p12
uncertain significance
GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1 copy number loss Hereditary liability to pressure palsies [RCV001825295] Chr17:12524223..16047567 [GRCh37]
Chr17:17p12-11.2
not provided
NM_001146312.3(MYOCD):c.1685C>T (p.Pro562Leu) single nucleotide variant Inborn genetic diseases [RCV003287716] Chr17:12752973 [GRCh38]
Chr17:12656290 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2102A>G (p.His701Arg) single nucleotide variant Inborn genetic diseases [RCV002682072] Chr17:12756457 [GRCh38]
Chr17:12659774 [GRCh37]
Chr17:17p12
likely benign
NM_001146312.3(MYOCD):c.1966A>C (p.Asn656His) single nucleotide variant Inborn genetic diseases [RCV002774645] Chr17:12753254 [GRCh38]
Chr17:12656571 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2834C>T (p.Pro945Leu) single nucleotide variant Inborn genetic diseases [RCV002973996] Chr17:12763517 [GRCh38]
Chr17:12666834 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.109G>C (p.Gly37Arg) single nucleotide variant Inborn genetic diseases [RCV002731949] Chr17:12705181 [GRCh38]
Chr17:12608498 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.359A>G (p.Glu120Gly) single nucleotide variant Inborn genetic diseases [RCV002888779] Chr17:12722952 [GRCh38]
Chr17:12626269 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2073C>A (p.His691Gln) single nucleotide variant Inborn genetic diseases [RCV002889072] Chr17:12756428 [GRCh38]
Chr17:12659745 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.1734C>A (p.Ser578Arg) single nucleotide variant Inborn genetic diseases [RCV002661877] Chr17:12753022 [GRCh38]
Chr17:12656339 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.1735T>G (p.Cys579Gly) single nucleotide variant Inborn genetic diseases [RCV002661878] Chr17:12753023 [GRCh38]
Chr17:12656340 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.1801T>C (p.Cys601Arg) single nucleotide variant Inborn genetic diseases [RCV002983705] Chr17:12753089 [GRCh38]
Chr17:12656406 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2185C>G (p.Pro729Ala) single nucleotide variant Inborn genetic diseases [RCV002665641] Chr17:12756540 [GRCh38]
Chr17:12659857 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2634C>A (p.Ser878Arg) single nucleotide variant Inborn genetic diseases [RCV002804556] Chr17:12763317 [GRCh38]
Chr17:12666634 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.1493T>C (p.Met498Thr) single nucleotide variant Inborn genetic diseases [RCV002891778] Chr17:12752781 [GRCh38]
Chr17:12656098 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2404G>A (p.Ala802Thr) single nucleotide variant Inborn genetic diseases [RCV002954618] Chr17:12763087 [GRCh38]
Chr17:12666404 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2408G>A (p.Arg803Lys) single nucleotide variant Inborn genetic diseases [RCV002915811] Chr17:12763091 [GRCh38]
Chr17:12666408 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2689G>C (p.Asp897His) single nucleotide variant Inborn genetic diseases [RCV002719586]|not provided [RCV003223772] Chr17:12763372 [GRCh38]
Chr17:12666689 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.1256C>T (p.Thr419Met) single nucleotide variant Inborn genetic diseases [RCV002714597] Chr17:12752544 [GRCh38]
Chr17:12655861 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.935G>A (p.Arg312Gln) single nucleotide variant Inborn genetic diseases [RCV002960948] Chr17:12744400 [GRCh38]
Chr17:12647717 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2893A>G (p.Ile965Val) single nucleotide variant Inborn genetic diseases [RCV002674703] Chr17:12763576 [GRCh38]
Chr17:12666893 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2342G>A (p.Arg781Gln) single nucleotide variant Inborn genetic diseases [RCV002812427] Chr17:12760660 [GRCh38]
Chr17:12663977 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2078G>C (p.Gly693Ala) single nucleotide variant Inborn genetic diseases [RCV002897443] Chr17:12756433 [GRCh38]
Chr17:12659750 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.1748C>T (p.Ser583Phe) single nucleotide variant Inborn genetic diseases [RCV002722313] Chr17:12753036 [GRCh38]
Chr17:12656353 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.1208C>T (p.Pro403Leu) single nucleotide variant not provided [RCV003223979] Chr17:12752496 [GRCh38]
Chr17:12655813 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2737C>A (p.Gln913Lys) single nucleotide variant Inborn genetic diseases [RCV003199354] Chr17:12763420 [GRCh38]
Chr17:12666737 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2792C>G (p.Thr931Ser) single nucleotide variant Inborn genetic diseases [RCV003179265] Chr17:12763475 [GRCh38]
Chr17:12666792 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.358G>A (p.Glu120Lys) single nucleotide variant Inborn genetic diseases [RCV003308759] Chr17:12722951 [GRCh38]
Chr17:12626268 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.2536C>T (p.Pro846Ser) single nucleotide variant Inborn genetic diseases [RCV003309916] Chr17:12763219 [GRCh38]
Chr17:12666536 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.991G>C (p.Val331Leu) single nucleotide variant Inborn genetic diseases [RCV003385905] Chr17:12745938 [GRCh38]
Chr17:12649255 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.1843G>A (p.Val615Met) single nucleotide variant Inborn genetic diseases [RCV003378413] Chr17:12753131 [GRCh38]
Chr17:12656448 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.1415C>G (p.Pro472Arg) single nucleotide variant Inborn genetic diseases [RCV003364321] Chr17:12752703 [GRCh38]
Chr17:12656020 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.1885C>A (p.Leu629Ile) single nucleotide variant not provided [RCV003419663] Chr17:12753173 [GRCh38]
Chr17:12656490 [GRCh37]
Chr17:17p12
likely benign
NM_001146312.3(MYOCD):c.2074G>A (p.Asp692Asn) single nucleotide variant not provided [RCV003428149] Chr17:12756429 [GRCh38]
Chr17:12659746 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.2225A>G (p.Asp742Gly) single nucleotide variant not provided [RCV003413154] Chr17:12758107 [GRCh38]
Chr17:12661424 [GRCh37]
Chr17:17p12
benign
NM_001146312.3(MYOCD):c.2520C>A (p.Ser840Arg) single nucleotide variant not provided [RCV003428150] Chr17:12763203 [GRCh38]
Chr17:12666520 [GRCh37]
Chr17:17p12
benign
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2
pathogenic
NM_001146312.3(MYOCD):c.1628A>G (p.Glu543Gly) single nucleotide variant not provided [RCV003884044] Chr17:12752916 [GRCh38]
Chr17:12656233 [GRCh37]
Chr17:17p12
uncertain significance
NM_001146312.3(MYOCD):c.1952T>G (p.Leu651Trp) single nucleotide variant Inborn genetic diseases [RCV003206675] Chr17:12753240 [GRCh38]
Chr17:12656557 [GRCh37]
Chr17:17p12
uncertain significance
Single allele duplication not specified [RCV002286369] Chr17:11915997..17892664 [GRCh38]
Chr17:17p12-11.2
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3334
Count of miRNA genes:1155
Interacting mature miRNAs:1413
Transcripts:ENST00000343344, ENST00000395988, ENST00000425538, ENST00000443061, ENST00000579237
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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
High
Medium 1584 1519 15 1 60 2 803 897 19 25 415 107 132 688
Low 706 683 801 77 302 42 2636 650 906 137 818 1136 39 1 1027 1486 3
Below cutoff 35 621 811 465 802 340 824 612 2690 176 103 183 129 45 614 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF532596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY764180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ000229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA650534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB226467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000343344   ⟹   ENSP00000341835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1712,666,189 - 12,763,644 (+)Ensembl
RefSeq Acc Id: ENST00000395988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1712,720,289 - 12,758,306 (+)Ensembl
RefSeq Acc Id: ENST00000425538   ⟹   ENSP00000401678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1712,665,890 - 12,768,949 (+)Ensembl
RefSeq Acc Id: ENST00000443061   ⟹   ENSP00000400148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1712,744,351 - 12,765,329 (+)Ensembl
RefSeq Acc Id: ENST00000579237   ⟹   ENSP00000462694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1712,665,890 - 12,717,390 (+)Ensembl
RefSeq Acc Id: NM_001146312   ⟹   NP_001139784
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381712,665,890 - 12,768,949 (+)NCBI
GRCh371712,569,207 - 12,672,266 (+)NCBI
HuRef1712,464,600 - 12,567,695 (+)NCBI
CHM1_11712,577,982 - 12,681,021 (+)NCBI
T2T-CHM13v2.01712,573,362 - 12,676,444 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378306   ⟹   NP_001365235
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381712,665,890 - 12,768,949 (+)NCBI
T2T-CHM13v2.01712,573,362 - 12,676,444 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153604   ⟹   NP_705832
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381712,665,890 - 12,768,949 (+)NCBI
GRCh371712,569,207 - 12,672,266 (+)NCBI
Build 361712,510,231 - 12,607,686 (+)NCBI Archive
HuRef1712,464,600 - 12,567,695 (+)NCBI
CHM1_11712,577,982 - 12,681,021 (+)NCBI
T2T-CHM13v2.01712,573,362 - 12,676,444 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005256863   ⟹   XP_005256920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381712,665,890 - 12,768,949 (+)NCBI
GRCh371712,569,207 - 12,672,266 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025342   ⟹   XP_016880831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381712,665,890 - 12,768,949 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054317820   ⟹   XP_054173795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01712,573,362 - 12,676,444 (+)NCBI
RefSeq Acc Id: XM_054317821   ⟹   XP_054173796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01712,573,362 - 12,676,444 (+)NCBI
RefSeq Acc Id: NP_001139784   ⟸   NM_001146312
- Peptide Label: isoform 1
- UniProtKB: Q8IZQ8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_705832   ⟸   NM_153604
- Peptide Label: isoform 2
- UniProtKB: Q5UBU5 (UniProtKB/Swiss-Prot),   Q8N7Q1 (UniProtKB/Swiss-Prot),   Q8IZQ8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005256920   ⟸   XM_005256863
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016880831   ⟸   XM_017025342
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001365235   ⟸   NM_001378306
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000401678   ⟸   ENST00000425538
RefSeq Acc Id: ENSP00000400148   ⟸   ENST00000443061
RefSeq Acc Id: ENSP00000462694   ⟸   ENST00000579237
RefSeq Acc Id: ENSP00000341835   ⟸   ENST00000343344
RefSeq Acc Id: XP_054173796   ⟸   XM_054317821
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173795   ⟸   XM_054317820
- Peptide Label: isoform X1
Protein Domains
SAP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IZQ8-F1-model_v2 AlphaFold Q8IZQ8 1-938 view protein structure

Promoters
RGD ID:7234037
Promoter ID:EPDNEW_H22764
Type:initiation region
Name:MYOCD_1
Description:myocardin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22763  EPDNEW_H22765  EPDNEW_H22766  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381712,665,890 - 12,665,950EPDNEW
RGD ID:7234039
Promoter ID:EPDNEW_H22765
Type:initiation region
Name:MYOCD_2
Description:myocardin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22763  EPDNEW_H22764  EPDNEW_H22766  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381712,666,018 - 12,666,078EPDNEW
RGD ID:7234041
Promoter ID:EPDNEW_H22766
Type:initiation region
Name:MYOCD_4
Description:myocardin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22763  EPDNEW_H22764  EPDNEW_H22765  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381712,744,346 - 12,744,406EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16067 AgrOrtholog
COSMIC MYOCD COSMIC
Ensembl Genes ENSG00000141052 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000343344 ENTREZGENE
  ENST00000343344.8 UniProtKB/Swiss-Prot
  ENST00000425538 ENTREZGENE
  ENST00000425538.6 UniProtKB/Swiss-Prot
  ENST00000443061.1 UniProtKB/TrEMBL
  ENST00000579237.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.720.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.140.2040 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.150.10 UniProtKB/Swiss-Prot
GTEx ENSG00000141052 GTEx
HGNC ID HGNC:16067 ENTREZGENE
Human Proteome Map MYOCD Human Proteome Map
InterPro Myocardin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RPEL_repeat UniProtKB/Swiss-Prot
  SAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAP_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:93649 UniProtKB/Swiss-Prot
NCBI Gene 93649 ENTREZGENE
OMIM 606127 OMIM
PANTHER PTHR22793 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22793:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RPEL UniProtKB/Swiss-Prot
  SAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134946896 PharmGKB
PROSITE RPEL UniProtKB/Swiss-Prot
  SAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RPEL UniProtKB/Swiss-Prot
  SAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF68906 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt J3KSX3_HUMAN UniProtKB/TrEMBL
  MYCD_HUMAN UniProtKB/Swiss-Prot
  Q5UBU5 ENTREZGENE
  Q6N065_HUMAN UniProtKB/TrEMBL
  Q8IZQ8 ENTREZGENE
  Q8N7Q1 ENTREZGENE
UniProt Secondary H0Y5Q8 UniProtKB/TrEMBL
  Q5UBU5 UniProtKB/Swiss-Prot
  Q8N7Q1 UniProtKB/Swiss-Prot