Des (desmin) - Rat Genome Database

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Advanced Search (OLGA)
Gene: Des (desmin) Rattus norvegicus
Analyze
Symbol: Des
Name: desmin
RGD ID: 620686
Description: Predicted to enable cytoskeletal protein binding activity and identical protein binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in intermediate filament organization; nuclear envelope organization; and skeletal muscle organ development. Located in Z disc; gap junction; and type III intermediate filament. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human DES (desmin); PARTICIPATES IN arrhythmogenic right ventricular cardiomyopathy pathway; dilated cardiomyopathy pathway; hypertrophic cardiomyopathy pathway; INTERACTS WITH (+)-schisandrin B; (R)-adrenaline; (R,R)-tramadol.
Type: protein-coding
RefSeq Status: PROVISIONAL
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: Desm1Mcwi
Genetic Models: FHH-Desm1Mcwi
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8984,299,626 - 84,307,344 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl984,298,447 - 84,307,347 (+)EnsemblGRCr8
mRatBN7.2976,850,979 - 76,858,695 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,850,982 - 76,858,699 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx985,295,425 - 85,303,120 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0990,424,309 - 90,432,004 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,810,539 - 88,818,185 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0982,556,574 - 82,564,288 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,556,573 - 82,564,294 (+)Ensemblrn6Rnor6.0
Rnor_5.0982,325,835 - 82,333,549 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4974,637,783 - 74,645,499 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera974,421,090 - 74,428,604 (+)NCBICelera
RGSC_v3.1974,784,772 - 74,792,478 (+)NCBI
Cytogenetic Map9q33NCBI
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (EXP)
(R)-adrenaline  (EXP)
(R,R)-tramadol  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP,ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-acetamidofluorene  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-chloropropane-1,2-diol  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (EXP,ISO)
5-fluorouracil  (ISO)
7,12-dimethyltetraphene  (EXP)
7H-xanthine  (EXP)
9H-xanthine  (EXP)
acetamiprid  (EXP)
acetic acid  (ISO)
acrolein  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
alpha-Zearalanol  (EXP)
amitriptyline  (ISO)
ammonium chloride  (EXP)
apocynin  (ISO)
arachidonic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
artesunate  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (EXP)
boric acid  (ISO)
bucladesine  (EXP,ISO)
Bufotalin  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cantharidin  (ISO)
carbon nanotube  (ISO)
celecoxib  (ISO)
chlordecone  (ISO)
chromium(6+)  (ISO)
clodronic acid  (EXP)
clothianidin  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
curcumin  (EXP)
cyclosporin A  (EXP)
DDT  (EXP)
Deoxycorticosterone acetate  (ISO)
desferrioxamine B  (ISO)
dexamethasone  (EXP)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP)
dibenziodolium  (ISO)
dibutyl phthalate  (EXP)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (EXP)
dioxygen  (EXP,ISO)
diuron  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (ISO)
endosulfan  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP)
etoposide  (ISO)
ferulic acid  (EXP)
filipin III  (ISO)
folic acid  (ISO)
furan  (EXP)
gentamycin  (EXP)
glyphosate  (ISO)
heparin  (EXP)
homocysteine  (ISO)
hydrogen peroxide  (ISO)
inulin  (ISO)
isoflavones  (EXP)
isoprenaline  (EXP)
levetiracetam  (EXP)
losartan  (ISO)
lutein  (EXP)
medroxyprogesterone acetate  (EXP,ISO)
methotrexate  (ISO)
methyl beta-cyclodextrin  (ISO)
mycophenolic acid  (EXP)
N-nitrosomorpholine  (EXP)
nickel atom  (ISO)
nitrofen  (EXP)
Nonylphenol  (EXP)
okadaic acid  (ISO)
ozone  (ISO)
Pachymic acid  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
PhIP  (EXP)
phloretin  (EXP)
pioglitazone  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP,ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
rosmarinic acid  (EXP)
rotenone  (ISO)
selenium atom  (ISO)
sildenafil citrate  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
sodium dichromate  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (EXP)
streptozocin  (EXP)
sulforaphane  (ISO)
sunitinib  (ISO)
tetrachloromethane  (EXP,ISO)
thalidomide  (EXP)
thioacetamide  (EXP)
titanium dioxide  (ISO)
tramadol  (EXP)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
triphenylstannane  (ISO)
Triptolide  (EXP)
undecane  (EXP)
valproic acid  (ISO)
valsartan  (EXP)
vinclozolin  (EXP)
vitamin E  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cardiac myofibril  (IEA,ISO)
cell tip  (IEA,ISO,ISS)
cell-cell junction  (IBA,IEA,ISO)
contractile muscle fiber  (IEA,ISO)
cytoplasm  (IEA,ISO,ISS)
cytoskeleton  (IEA,ISO)
fascia adherens  (IEA,ISO)
gap junction  (IDA)
intercalated disc  (IEA,ISO,ISS)
intermediate filament  (IBA,IEA,ISO)
intermediate filament cytoskeleton  (IEA,ISO)
neuromuscular junction  (IEA,ISO)
nuclear envelope  (IEA,ISO,ISS)
nucleus  (IEA,ISO,ISS)
sarcolemma  (IBA,IEA,ISO,ISS)
supramolecular fiber  (IEA)
type III intermediate filament  (IDA)
Z disc  (IBA,IDA,IEA,ISO,ISS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Disruption of desmin-mitochondrial architecture in patients with regurgitant mitral valves and preserved ventricular function. Ahmed MI, etal., J Thorac Cardiovasc Surg. 2016 Oct;152(4):1059-1070.e2. doi: 10.1016/j.jtcvs.2016.06.017. Epub 2016 Jun 25.
2. Nebulin binding impedes mutant desmin filament assembly. Baker LK, etal., Mol Biol Cell. 2013 Jun;24(12):1918-32. doi: 10.1091/mbc.E12-11-0840. Epub 2013 Apr 24.
3. Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia. Bermúdez-Jiménez FJ, etal., Circulation. 2018 Apr 10;137(15):1595-1610. doi: 10.1161/CIRCULATIONAHA.117.028719. Epub 2017 Dec 6.
4. Changes of desmin expression pattern in the myocardium of patients with alcoholic dilated cardiomyopathy. Deliu RC, etal., Rom J Morphol Embryol. 2017;58(4):1309-1315.
5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
6. Acute effects of desmin mutations on cytoskeletal and cellular integrity in cardiac myocytes. Haubold K, etal., Cell Motil Cytoskeleton. 2003 Feb;54(2):105-21.
7. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
8. The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function. Milner DJ, etal., J Mol Cell Cardiol. 1999 Nov;31(11):2063-76.
9. Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model. Moncayo-Arlandi J, etal., Hum Mol Genet. 2016 Sep 1;25(17):3676-3688. doi: 10.1093/hmg/ddw213. Epub 2016 Jul 12.
10. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. Connexin43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells. Oxford EM, etal., Circ Res. 2007 Sep 28;101(7):703-11. Epub 2007 Aug 2.
13. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
14. GOA pipeline RGD automated data pipeline
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. Different desmin peptides are distinctly deposited in cytoplasmic aggregations and cytoplasm of desmin-related cardiomyopathy patients. Shintani-Domoto Y, etal., Biochim Biophys Acta. 2017 Jul;1865(7):828-836. doi: 10.1016/j.bbapap.2017.03.006. Epub 2017 Mar 21.
18. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
19. Rat desmin gene structure and expression. van Groningen JJ, etal., Biochim Biophys Acta 1994 Jan 18;1217(1):107-9.
20. Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family. Yu R, etal., Cardiology. 2017;137(2):78-82. doi: 10.1159/000455181. Epub 2017 Feb 8.
21. Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy. Zhang J, etal., Clin Genet. 2001 Apr;59(4):248-56.
Additional References at PubMed
PMID:9415431   PMID:10532952   PMID:11309420   PMID:11694502   PMID:11732910   PMID:12477713   PMID:14627610   PMID:15138196   PMID:15948207   PMID:16322914   PMID:16917092   PMID:16972267  
PMID:17429681   PMID:17436058   PMID:17513494   PMID:17545045   PMID:17653607   PMID:18941770   PMID:20684325   PMID:20717635   PMID:20829498   PMID:21135508   PMID:21177767   PMID:21499714  
PMID:21998265   PMID:22772996   PMID:23533145   PMID:23557080   PMID:24200904   PMID:24532688   PMID:25394388   PMID:25771144   PMID:26724190   PMID:26787680   PMID:28455287   PMID:29483093  
PMID:29987122   PMID:31794771   PMID:34100182   PMID:34411340   PMID:35352799   PMID:36603297  


Genomics

Comparative Map Data
Des
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8984,299,626 - 84,307,344 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl984,298,447 - 84,307,347 (+)EnsemblGRCr8
mRatBN7.2976,850,979 - 76,858,695 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,850,982 - 76,858,699 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx985,295,425 - 85,303,120 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0990,424,309 - 90,432,004 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,810,539 - 88,818,185 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0982,556,574 - 82,564,288 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,556,573 - 82,564,294 (+)Ensemblrn6Rnor6.0
Rnor_5.0982,325,835 - 82,333,549 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4974,637,783 - 74,645,499 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera974,421,090 - 74,428,604 (+)NCBICelera
RGSC_v3.1974,784,772 - 74,792,478 (+)NCBI
Cytogenetic Map9q33NCBI
DES
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,418,377 - 219,426,734 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,417,474 - 219,426,739 (+)Ensemblhg38GRCh38
GRCh372220,283,099 - 220,291,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,991,343 - 219,999,705 (+)NCBIBuild 36Build 36hg18NCBI36
Build 342220,108,603 - 220,116,964NCBI
Celera2214,053,115 - 214,061,476 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2212,136,136 - 212,144,500 (+)NCBIHuRef
CHM1_12220,288,920 - 220,297,282 (+)NCBICHM1_1
T2T-CHM13v2.02219,903,171 - 219,911,530 (+)NCBIT2T-CHM13v2.0
Des
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39175,336,936 - 75,345,223 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl175,336,973 - 75,345,223 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38175,360,292 - 75,368,579 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl175,360,329 - 75,368,579 (+)Ensemblmm10GRCm38
MGSCv37175,356,919 - 75,364,291 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36175,243,492 - 75,250,864 (+)NCBIMGSCv36mm8
Celera175,850,928 - 75,858,300 (+)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.85NCBI
Des
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545314,039,502 - 14,047,246 (-)Ensembl
ChiLan1.0NW_00495545314,039,502 - 14,046,572 (-)NCBIChiLan1.0ChiLan1.0
DES
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213122,043,970 - 122,061,424 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B122,058,936 - 122,071,977 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B106,675,761 - 106,684,129 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B225,266,081 - 225,274,446 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B225,266,261 - 225,273,604 (+)EnsemblpanPan2panpan1.1
DES
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13725,933,525 - 25,939,910 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,933,455 - 25,940,985 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha3726,759,350 - 26,765,730 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.03725,948,759 - 25,955,145 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3725,948,680 - 25,958,140 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13725,852,619 - 25,858,998 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03725,788,621 - 25,795,000 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03725,809,193 - 25,815,585 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Des
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303175,465,108 - 175,472,155 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365691,807,805 - 1,815,562 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049365691,807,902 - 1,814,936 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DES
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15121,427,642 - 121,435,423 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.115121,428,539 - 121,435,426 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,560,511 - 134,567,338 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DES
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110105,312,348 - 105,320,869 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10105,312,707 - 105,320,782 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604094,079,539 - 94,087,721 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Des
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248235,622,283 - 5,632,283 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248235,624,958 - 5,632,234 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Des
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v14148,712,814 - 148,720,404 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Des
73 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:147
Count of miRNA genes:91
Interacting mature miRNAs:118
Transcripts:ENSRNOT00000026860
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.


QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2303170Bp332Blood pressure QTL 3323.730.027arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)9671488884474983Rat
631656Bp108Blood pressure QTL 1085.970.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)956047863101047863Rat
7411571Bw138Body weight QTL 13814.30.001body mass (VT:0001259)body weight gain (CMO:0000420)94002992585029925Rat
1582203Gluco19Glucose level QTL 193.30.001blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)963376862108376862Rat
8662828Vetf6Vascular elastic tissue fragility QTL 63.9artery integrity trait (VT:0010639)patent ductus arteriosus score (CMO:0002566)94445825699506504Rat
724515Uae16Urinary albumin excretion QTL 168urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)965657365108376720Rat
61352Bp34Blood pressure QTL 345arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)98216882386720295Rat
1598834Memor11Memory QTL 112.5exploratory behavior trait (VT:0010471)average horizontal distance between subject and target during voluntary locomotion in an experimental apparatus (CMO:0002674)94445825685262605Rat
70218Cm28Cardiac mass QTL 288.30.0001heart mass (VT:0007028)heart wet weight (CMO:0000069)94172029586720295Rat
724544Uae9Urinary albumin excretion QTL 94.5urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)964220169109220169Rat
2290450Scl57Serum cholesterol level QTL 574.15blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)944458256121768150Rat
1578760Cm53Cardiac mass QTL 533.30.0001heart mass (VT:0007028)heart wet weight (CMO:0000069)964220169109220169Rat
1581580Uae34Urinary albumin excretion QTL 34urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)964220169109220169Rat
1300134Bp185Blood pressure QTL 1853.73arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)968875497121768150Rat
1354626Bvd1Brain ventricular dilatation QTL 13.730.001brain ventricle morphology trait (VT:0000822)hydrocephalus severity score (CMO:0001881)983161999118999486Rat
731164Uae25Urinary albumin excretion QTL 253.50.0001urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)948718864108376862Rat
7411656Foco26Food consumption QTL 269.80.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)94002992585029925Rat
4889943Bss90Bone structure and strength QTL 904.1tibia area (VT:1000281)tibia-fibula cortical bone endosteal cross-sectional area (CMO:0001722)95450650499506504Rat
1578757Pur6Proteinuria QTL 63.30.005urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)964220169109220169Rat

Markers in Region
D9Mco70  
Rat AssemblyChrPosition (strand)SourceJBrowse
GRCr8984,301,657 - 84,301,854 (+)Marker Load Pipeline
mRatBN7.2976,853,010 - 76,853,205 (+)MAPPERmRatBN7.2
Rnor_6.0982,558,606 - 82,558,800NCBIRnor6.0
Rnor_5.0982,327,867 - 82,328,061UniSTSRnor5.0
RGSC_v3.4974,639,815 - 74,640,009UniSTSRGSC3.4
Celera974,423,122 - 74,423,316UniSTS
Cytogenetic Map9q33UniSTS
Des  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2976,851,066 - 76,851,306 (+)MAPPERmRatBN7.2
Rnor_6.0982,556,662 - 82,556,901NCBIRnor6.0
Rnor_5.0982,325,923 - 82,326,162UniSTSRnor5.0
RGSC_v3.4974,637,871 - 74,638,110UniSTSRGSC3.4
Celera974,421,178 - 74,421,417UniSTS
Cytogenetic Map9q33UniSTS
AA964451  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2976,858,501 - 76,858,683 (+)MAPPERmRatBN7.2
Rnor_6.0982,564,095 - 82,564,276NCBIRnor6.0
Rnor_5.0982,333,356 - 82,333,537UniSTSRnor5.0
RGSC_v3.4974,645,306 - 74,645,487UniSTSRGSC3.4
Celera974,428,411 - 74,428,592UniSTS
RH 3.4 Map9757.3UniSTS
Cytogenetic Map9q33UniSTS
PMC209322P1  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2976,851,059 - 76,851,437 (+)MAPPERmRatBN7.2
Rnor_6.0982,556,655 - 82,557,032NCBIRnor6.0
Rnor_5.0982,325,916 - 82,326,293UniSTSRnor5.0
RGSC_v3.4974,637,864 - 74,638,241UniSTSRGSC3.4
Celera974,421,171 - 74,421,548UniSTS
Cytogenetic Map9q33UniSTS
stSG632979  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2976,856,930 - 76,857,751 (+)MAPPERmRatBN7.2
Rnor_6.0982,562,524 - 82,563,344NCBIRnor6.0
Rnor_5.0982,331,785 - 82,332,605UniSTSRnor5.0
RGSC_v3.4974,643,735 - 74,644,555UniSTSRGSC3.4
Celera974,426,840 - 74,427,660UniSTS
Cytogenetic Map9q33UniSTS
G67372  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2976,853,259 - 76,853,650 (+)MAPPERmRatBN7.2
Rnor_6.0982,558,855 - 82,559,245NCBIRnor6.0
Rnor_5.0982,328,116 - 82,328,506UniSTSRnor5.0
RGSC_v3.4974,640,064 - 74,640,454UniSTSRGSC3.4
Celera974,423,371 - 74,423,761UniSTS
Cytogenetic Map9q33UniSTS


Genetic Models
This gene Des is modified in the following models/strains:
FHH-Desm1Mcwi    


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
16 12 67 151 91 90 59 34 59 6 297 134 10 130 80 92 31 10 10

Sequence


Ensembl Acc Id: ENSRNOT00000026860   ⟹   ENSRNOP00000026860
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl984,299,620 - 84,307,347 (+)Ensembl
mRatBN7.2 Ensembl976,850,989 - 76,858,699 (+)Ensembl
Rnor_6.0 Ensembl982,556,573 - 82,564,294 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000117593   ⟹   ENSRNOP00000094817
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl984,298,447 - 84,307,341 (+)Ensembl
mRatBN7.2 Ensembl976,850,982 - 76,857,445 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000163647   ⟹   ENSRNOP00000108145
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl984,299,508 - 84,307,341 (+)Ensembl
RefSeq Acc Id: NM_022531   ⟹   NP_071976
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8984,299,626 - 84,307,344 (+)NCBI
mRatBN7.2976,850,979 - 76,858,695 (+)NCBI
Rnor_6.0982,556,574 - 82,564,288 (+)NCBI
Rnor_5.0982,325,835 - 82,333,549 (+)NCBI
RGSC_v3.4974,637,783 - 74,645,499 (+)RGD
Celera974,421,090 - 74,428,604 (+)RGD
Sequence:
Protein Sequences
Protein RefSeqs NP_071976 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH61872 (Get FASTA)   NCBI Sequence Viewer  
  CAA51920 (Get FASTA)   NCBI Sequence Viewer  
  EDL75434 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000108145
GenBank Protein P48675 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_071976   ⟸   NM_022531
- UniProtKB: P48675 (UniProtKB/Swiss-Prot),   Q6P725 (UniProtKB/TrEMBL),   A6JW26 (UniProtKB/TrEMBL),   F7FLT5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000026860   ⟸   ENSRNOT00000026860
Ensembl Acc Id: ENSRNOP00000094817   ⟸   ENSRNOT00000117593
Ensembl Acc Id: ENSRNOP00000108145   ⟸   ENSRNOT00000163647
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48675-F1-model_v2 AlphaFold P48675 1-469 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13696780
Promoter ID:EPDNEW_R7304
Type:multiple initiation site
Name:Des_1
Description:desmin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0982,556,568 - 82,556,628EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:620686 AgrOrtholog
BioCyc Gene G2FUF-27078 BioCyc
Ensembl Genes ENSRNOG00000019810 Ensembl, ENTREZGENE
Ensembl Transcript ENSRNOT00000163647 ENTREZGENE
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot
  Single helix bin UniProtKB/Swiss-Prot
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot
IMAGE_CLONE IMAGE:5598951 IMAGE-MGC_LOAD
InterPro IF_conserved UniProtKB/Swiss-Prot
  IF_rod_dom UniProtKB/Swiss-Prot
  Intermed_filament_DNA-bd UniProtKB/Swiss-Prot
  Intermediate_filament UniProtKB/Swiss-Prot
KEGG Report rno:64362 UniProtKB/Swiss-Prot
MGC_CLONE MGC:72444 IMAGE-MGC_LOAD
NCBI Gene 64362 ENTREZGENE
PANTHER DESMIN UniProtKB/Swiss-Prot
  GLIAL FIBRILLARY ACIDIC PROTEIN UniProtKB/Swiss-Prot
Pfam Filament UniProtKB/Swiss-Prot
  Filament_head UniProtKB/Swiss-Prot
PhenoGen Des PhenoGen
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot
  IF_ROD_2 UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000019810 RatGTEx
SMART Filament UniProtKB/Swiss-Prot
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot
UniProt A0A8I6ANC1_RAT UniProtKB/TrEMBL
  A0ABK0M0S0_RAT UniProtKB/TrEMBL
  A0ABZ3NN68_RAT UniProtKB/TrEMBL
  A6JW26 ENTREZGENE, UniProtKB/TrEMBL
  DESM_RAT UniProtKB/Swiss-Prot
  F7FLT5 ENTREZGENE, UniProtKB/TrEMBL
  P48675 ENTREZGENE
  Q6P725 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2004-09-10 Des  desmin      Symbol and Name status set to approved 1299863 APPROVED
2002-08-07 Des  desmin      Symbol and Name status set to provisional 70820 PROVISIONAL

RGD Curation Notes
Note Type Note Reference
gene_expression mRNA expressed in striated, heart, and smooth muscle cells and lung 728279