MYOZ1 (myozenin 1) - Rat Genome Database

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Gene: MYOZ1 (myozenin 1) Homo sapiens
Analyze
Symbol: MYOZ1
Name: myozenin 1
RGD ID: 1351397
HGNC Page HGNC
Description: Exhibits FATZ binding activity. Predicted to be involved in several processes, including negative regulation of calcineurin-NFAT signaling cascade; sarcomere organization; and skeletal muscle fiber adaptation. Predicted to localize to Z disc and actin cytoskeleton.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: calsarcin-2; CS-2; FATZ; filamin-, actinin- and telethonin-binding protein; MYOZ; myozenin-1
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
GRCh38.p13 Ensembl1073,631,612 - 73,641,474 (-)EnsemblGRCh38hg38GRCh38
GRCh381073,631,612 - 73,641,474 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371075,391,370 - 75,401,232 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361075,061,418 - 75,071,521 (-)NCBINCBI36hg18NCBI36
Build 341075,061,419 - 75,071,521NCBI
Celera1068,677,011 - 68,687,110 (-)NCBI
Cytogenetic Map10q22.2NCBI
HuRef1069,384,883 - 69,395,024 (-)NCBIHuRef
CHM1_11075,673,121 - 75,683,266 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component
actin cytoskeleton  (IBA,ISO)
nucleus  (IEA)
pseudopodium  (IEA)
Z disc  (IBA)

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889549   PMID:10427098   PMID:10984498   PMID:11114196   PMID:11171996   PMID:11842093   PMID:12477932   PMID:15489334   PMID:16076904   PMID:16189514   PMID:17254821   PMID:17434779  
PMID:18029348   PMID:18157088   PMID:18846255   PMID:19472918   PMID:19616115   PMID:20149877   PMID:21145461   PMID:21832049   PMID:21873635   PMID:24177373   PMID:25184681   PMID:25814554  
PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
MYOZ1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1073,631,612 - 73,641,474 (-)EnsemblGRCh38hg38GRCh38
GRCh381073,631,612 - 73,641,474 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371075,391,370 - 75,401,232 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361075,061,418 - 75,071,521 (-)NCBINCBI36hg18NCBI36
Build 341075,061,419 - 75,071,521NCBI
Celera1068,677,011 - 68,687,110 (-)NCBI
Cytogenetic Map10q22.2NCBI
HuRef1069,384,883 - 69,395,024 (-)NCBIHuRef
CHM1_11075,673,121 - 75,683,266 (-)NCBICHM1_1
Myoz1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391420,699,170 - 20,706,608 (-)NCBIGRCm39mm39
GRCm39 Ensembl1420,699,175 - 20,706,608 (-)Ensembl
GRCm381420,649,102 - 20,656,540 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1420,649,107 - 20,656,540 (-)EnsemblGRCm38mm10GRCm38
MGSCv371421,468,324 - 21,475,762 (-)NCBIGRCm37mm9NCBIm37
MGSCv361419,437,659 - 19,454,648 (-)NCBImm8
Celera1417,031,813 - 17,039,282 (-)NCBICelera
Cytogenetic Map14A3NCBI
Myoz1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2153,644,333 - 3,651,584 (+)NCBI
Rnor_6.0 Ensembl154,077,091 - 4,084,314 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0154,077,066 - 4,084,306 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0158,178,295 - 8,185,524 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4153,869,805 - 3,877,019 (+)NCBIRGSC3.4rn4RGSC3.4
Celera15942,624 - 949,838 (-)NCBICelera
Cytogenetic Map15p16NCBI
Myoz1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543718,191,242 - 18,199,188 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543718,191,514 - 18,199,122 (+)NCBIChiLan1.0ChiLan1.0
MYOZ1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11072,635,720 - 72,651,508 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1072,635,720 - 72,645,602 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01070,179,020 - 70,194,885 (-)NCBIMhudiblu_PPA_v0panPan3
MYOZ1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1424,158,532 - 24,165,416 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl424,158,720 - 24,165,392 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha424,296,555 - 24,301,720 (-)NCBI
ROS_Cfam_1.0424,438,848 - 24,445,544 (-)NCBI
UMICH_Zoey_3.1424,336,336 - 24,341,566 (-)NCBI
UNSW_CanFamBas_1.0424,536,907 - 24,542,070 (-)NCBI
UU_Cfam_GSD_1.0424,891,925 - 24,897,089 (-)NCBI
Myoz1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721356,923,471 - 56,935,741 (+)NCBI
SpeTri2.0NW_0049365215,420,553 - 5,428,470 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYOZ1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1476,444,540 - 76,452,799 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11476,445,109 - 76,453,014 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21482,571,968 - 82,581,152 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MYOZ1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1957,649,829 - 57,660,148 (+)NCBI
ChlSab1.1 Ensembl957,650,298 - 57,660,345 (+)Ensembl
Vero_WHO_p1.0NW_02366604818,222,250 - 18,237,744 (+)NCBI
Myoz1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247547,236,756 - 7,243,659 (-)NCBI

Position Markers
RH41784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,391,443 - 75,391,639UniSTSGRCh37
Build 361075,061,449 - 75,061,645RGDNCBI36
Celera1068,677,042 - 68,677,238RGD
Cytogenetic Map10q22.1UniSTS
HuRef1069,384,956 - 69,385,152UniSTS
GeneMap99-GB4 RH Map10380.08UniSTS
RH121836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,401,139 - 75,401,429UniSTSGRCh37
Build 361075,071,145 - 75,071,435RGDNCBI36
Celera1068,686,734 - 68,687,024RGD
Cytogenetic Map10q22.1UniSTS
HuRef1069,394,648 - 69,394,938UniSTS
TNG Radiation Hybrid Map1034370.0UniSTS
MYOZ1_8078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371075,391,297 - 75,391,906UniSTSGRCh37
Build 361075,061,303 - 75,061,912RGDNCBI36
Celera1068,676,896 - 68,677,505RGD
HuRef1069,384,810 - 69,385,419UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:232
Count of miRNA genes:210
Interacting mature miRNAs:220
Transcripts:ENST00000359322
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 1 715 721 1 715
Medium 32 1650 98 51 37 1 982 119 106 18 110 265 53 1 102 841
Low 1536 743 1205 228 908 133 2441 1032 3460 313 1213 1163 97 1080 1185 5 2
Below cutoff 772 490 365 295 709 281 187 311 134 66 98 101 22 22 47 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000359322   ⟹   ENSP00000352272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1073,631,612 - 73,641,474 (-)Ensembl
RefSeq Acc Id: NM_021245   ⟹   NP_067068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,631,612 - 73,641,474 (-)NCBI
GRCh371075,391,370 - 75,401,515 (-)NCBI
Build 361075,061,418 - 75,071,521 (-)NCBI Archive
Celera1068,677,011 - 68,687,110 (-)RGD
HuRef1069,384,883 - 69,395,024 (-)NCBI
CHM1_11075,673,121 - 75,683,266 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_067068   ⟸   NM_021245
- UniProtKB: Q9NP98 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000352272   ⟸   ENST00000359322

Promoters
RGD ID:7217855
Promoter ID:EPDNEW_H14673
Type:initiation region
Name:MYOZ1_1
Description:myozenin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14674  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,641,765 - 73,641,825EPDNEW
RGD ID:7217857
Promoter ID:EPDNEW_H14674
Type:initiation region
Name:MYOZ1_2
Description:myozenin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14673  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381073,647,480 - 73,647,540EPDNEW
RGD ID:6814472
Promoter ID:HG_XEF:984
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_174397
Position:
Human AssemblyChrPosition (strand)Source
Build 361075,077,196 - 75,077,696 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2
pathogenic
GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1 copy number loss See cases [RCV000052531] Chr10:72720628..75612374 [GRCh38]
Chr10:74480386..77372132 [GRCh37]
Chr10:74150392..77042138 [NCBI36]
Chr10:10q22.1-22.2
pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2
pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3
pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2
pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q22.2(chr10:75179409-76009153)x3 copy number gain See cases [RCV000511191] Chr10:75179409..76009153 [GRCh37]
Chr10:10q22.2
uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss PARP Inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q22.2(chr10:75251395-75763287)x1 copy number loss not provided [RCV000849346] Chr10:75251395..75763287 [GRCh37]
Chr10:10q22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13752 AgrOrtholog
COSMIC MYOZ1 COSMIC
Ensembl Genes ENSG00000177791 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000352272 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000359322 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000177791 GTEx
HGNC ID HGNC:13752 ENTREZGENE
Human Proteome Map MYOZ1 Human Proteome Map
InterPro MYOZ UniProtKB/Swiss-Prot
KEGG Report hsa:58529 UniProtKB/Swiss-Prot
NCBI Gene 58529 ENTREZGENE
OMIM 605603 OMIM
PANTHER PTHR15941 UniProtKB/Swiss-Prot
Pfam Calsarcin UniProtKB/Swiss-Prot
PharmGKB PA31420 PharmGKB
UniProt MYOZ1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q9H1I7 UniProtKB/Swiss-Prot