Des (desmin) - Rat Genome Database

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Gene: Des (desmin) Rattus norvegicus
Symbol: Des
Name: desmin
RGD ID: 620686
Description: Predicted to enable cytoskeletal protein binding activity and identical protein binding activity. 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
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: Desm1Mcwi  
Genetic Models: FHH-Desm1Mcwi
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Rat AssemblyChrPosition (strand)SourceGenome Browsers
GRCr8984,299,626 - 84,307,344 (+)NCBIGRCr8
mRatBN7.2976,850,979 - 76,858,695 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,850,982 - 76,858,699 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx985,295,425 - 85,303,120 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0990,424,309 - 90,432,004 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,810,539 - 88,818,185 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0982,556,574 - 82,564,288 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,556,573 - 82,564,294 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0982,325,835 - 82,333,549 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,637,783 - 74,645,499 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1974,784,772 - 74,792,478 (+)NCBI
Celera974,421,090 - 74,428,604 (+)NCBICelera
Cytogenetic Map9q33NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
alacrima, achalasia, and impaired intellectual development syndrome  (ISO)
Animal Mammary Neoplasms  (ISO)
arrhythmogenic right ventricular cardiomyopathy  (ISO)
arrhythmogenic right ventricular dysplasia 9  (ISO)
Arteriovenous Fistula  (IEP)
atrial fibrillation  (ISO)
autosomal recessive distal hereditary motor neuronopathy 5  (ISO)
Breast Neoplasms  (ISO)
carcinoma  (ISO)
cardiomyopathy  (ISO,ISS)
cerebrotendinous xanthomatosis  (ISO)
congenital diaphragmatic hernia  (ISO)
dilated cardiomyopathy  (ISO)
dilated cardiomyopathy 1A  (ISO)
dilated cardiomyopathy 1B  (ISO)
dilated cardiomyopathy 1H  (ISO)
dilated cardiomyopathy 1I  (ISO,ISS)
dilated cardiomyopathy 1S  (ISO)
Dilated Cardiomyopathy with Left Ventricular Noncompaction  (ISO)
Experimental Mammary Neoplasms  (ISO)
familial hypertrophic cardiomyopathy  (ISO)
Fetal Growth Retardation  (ISO)
glomerulonephritis  (ISO)
hyperhomocysteinemia  (ISO)
hypertrophic cardiomyopathy  (ISO)
hypertrophic cardiomyopathy 1  (ISO)
interstitial lung disease  (ISO)
limb-girdle muscular dystrophy  (ISO)
megacolon  (ISO)
mitral valve prolapse  (ISO)
Muscle Hypotonia  (ISO)
muscular disease  (ISO)
myofibrillar myopathy  (ISO)
myofibrillar myopathy 1  (ISO,ISS)
myopathy  (ISO)
nephrosis  (ISO)
Neurodevelopmental Disorders  (ISO)
neurogenic scapuloperoneal syndrome Kaeser type  (ISO)
neuromuscular disease  (ISO)
newborn respiratory distress syndrome  (ISO)
paroxysmal nonkinesigenic dyskinesia 1  (ISO)
polydactyly  (ISO)
pulmonary alveolar proteinosis  (ISO)
restrictive cardiomyopathy  (ISO)
Stomach Neoplasms  (ISO)

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-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)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
cantharidin  (ISO)
carbon nanotube  (ISO)
celecoxib  (ISO)
chlordecone  (ISO)
chromium(6+)  (ISO)
clodronic acid  (EXP)
clothianidin  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
Deoxycorticosterone acetate  (ISO)
desferrioxamine B  (ISO)
dexamethasone  (EXP)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP)
dibenziodolium  (ISO)
dibutyl phthalate  (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)
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)
ozone  (ISO)
Pachymic acid  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phloretin  (EXP)
pioglitazone  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP,ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
rosmarinic acid  (EXP)
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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View

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  


Comparative Map Data
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
GRCr8984,299,626 - 84,307,344 (+)NCBIGRCr8
mRatBN7.2976,850,979 - 76,858,695 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,850,982 - 76,858,699 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx985,295,425 - 85,303,120 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0990,424,309 - 90,432,004 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,810,539 - 88,818,185 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0982,556,574 - 82,564,288 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,556,573 - 82,564,294 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0982,325,835 - 82,333,549 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,637,783 - 74,645,499 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1974,784,772 - 74,792,478 (+)NCBI
Celera974,421,090 - 74,428,604 (+)NCBICelera
Cytogenetic Map9q33NCBI
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh382219,418,377 - 219,426,734 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,418,377 - 219,426,735 (+)EnsemblGRCh38hg38GRCh38
GRCh372220,283,099 - 220,291,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,991,343 - 219,999,705 (+)NCBINCBI36Build 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
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm39175,336,936 - 75,345,223 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl175,336,973 - 75,345,223 (+)EnsemblGRCm39 Ensembl
GRCm38175,360,292 - 75,368,579 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl175,360,329 - 75,368,579 (+)EnsemblGRCm38mm10GRCm38
MGSCv37175,356,919 - 75,364,291 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36175,243,492 - 75,250,864 (+)NCBIMGSCv36mm8
Celera175,850,928 - 75,858,300 (+)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.85NCBI
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
ChiLan1.0 EnsemblNW_00495545314,039,502 - 14,047,246 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545314,039,502 - 14,046,572 (-)NCBIChiLan1.0ChiLan1.0
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
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 (+)Ensemblpanpan1.1panPan2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
CanFam3.13725,933,525 - 25,939,910 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3725,933,455 - 25,940,985 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3726,759,350 - 26,765,730 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03725,948,759 - 25,955,145 (+)NCBIROS_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_1.0
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
HiC_Itri_2NW_024405303175,465,108 - 175,472,155 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365691,807,805 - 1,815,562 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365691,807,902 - 1,814,936 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
Sscrofa11.1 Ensembl15121,427,642 - 121,435,423 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115121,428,539 - 121,435,426 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,560,511 - 134,567,338 (+)NCBISscrofa10.2Sscrofa10.2susScr3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
ChlSab1.110105,312,348 - 105,320,869 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604094,079,539 - 94,087,721 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
HetGla_female_1.0 EnsemblNW_0046248235,622,283 - 5,632,283 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248235,624,958 - 5,632,234 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Variants in Des
30 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:147
Count of miRNA genes:91
Interacting mature miRNAs:118
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 (
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
10054125Srcrt7Stress Responsive Cort QTL 73.330.0011blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)9187073594Rat
70186Niddm26Non-insulin dependent diabetes mellitus QTL 263.87blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)92207116986369743Rat
7207814Bmd91Bone mineral density QTL 913.5femur size trait (VT:1000369)femoral neck cross-sectional area (CMO:0001697)92375414483851531Rat
70218Cm28Cardiac mass QTL 288.30.0001heart mass (VT:0007028)heart wet weight (CMO:0000069)92526804479271759Rat
724544Uae9Urinary albumin excretion QTL 94.5urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)925268044114175309Rat
731164Uae25Urinary albumin excretion QTL 253.50.0001urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)925661188100929786Rat
7411656Foco26Food consumption QTL 269.80.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)93253550577535505Rat
7411571Bw138Body weight QTL 13814.30.001body mass (VT:0001259)body weight gain (CMO:0000420)93253550577535505Rat
1598834Memor11Memory QTL 112.5exploratory behavior trait (VT:0010471)average horizontal distance between subject and target during voluntary locomotion in an experimental apparatus (CMO:0002674)93696235977814038Rat
8662828Vetf6Vascular elastic tissue fragility QTL 63.9artery integrity trait (VT:0010639)patent ductus arteriosus score (CMO:0002566)93696235992058970Rat
2290450Scl57Serum cholesterol level QTL 574.15blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)93696235995410867Rat
6903941Pur31Proteinuria QTL 310.036urine total protein amount (VT:0000032)urine protein excretion rate (CMO:0000759)94019418885194188Rat
11353949Bp393Blood pressure QTL 393arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)94019418885194188Rat
61352Bp34Blood pressure QTL 345arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)94249534379271511Rat
10058949Gmadr5Adrenal mass QTL 520.014adrenal gland mass (VT:0010420)both adrenal glands wet weight to body weight ratio (CMO:0002411)94279151387976209Rat
11353951Bp394Blood pressure QTL 394arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)94464992189649921Rat
12879506Pur33Proteinuria QTL 33urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)94464992189649921Rat
11353957Bmd92Bone mineral density QTL 920.01tibia mineral mass (VT:1000283)volumetric bone mineral density (CMO:0001553)94611419991114199Rat
631656Bp108Blood pressure QTL 1085.970.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)94859825193598251Rat
2303170Bp332Blood pressure QTL 3323.730.027arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)95584784177026453Rat
2303180Bp333Blood pressure QTL 3330.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)95662771378595166Rat
2303180Bp333Blood pressure QTL 3330.001arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)95662771378595166Rat
2303180Bp333Blood pressure QTL 3330.001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)95662771378595166Rat
1578760Cm53Cardiac mass QTL 533.30.0001heart mass (VT:0007028)heart wet weight (CMO:0000069)956771635101771635Rat
724515Uae16Urinary albumin excretion QTL 168urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)958163035100929646Rat
1300134Bp185Blood pressure QTL 1853.73arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)961381434104821652Rat
1581580Uae34Urinary albumin excretion QTL 34urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)96207227596470995Rat
1578757Pur6Proteinuria QTL 63.30.005urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)96207227596470995Rat
61385Edpm9Estrogen-dependent pituitary mass QTL 93.430.05pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)963869687108869687Rat
731171Glom6Glomerulus QTL 62.80.0003kidney glomerulus morphology trait (VT:0005325)count of superficial glomeruli not directly contacting the kidney surface (CMO:0001002)964573531109573531Rat
1354626Bvd1Brain ventricular dilatation QTL 13.730.001brain ventricle morphology trait (VT:0000822)hydrocephalus severity score (CMO:0001881)975712843111552878Rat

Markers in Region
Rat AssemblyChrPosition (strand)SourceJBrowse
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
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
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
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
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
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:


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 appendage
High 12 8 11 2 8
Medium 3 34 21 12 17 12 30 35 11
Low 36 29 2 29 74 5 4
Below cutoff


RefSeq Acc Id: ENSRNOT00000026860   ⟹   ENSRNOP00000026860
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl976,850,989 - 76,858,699 (+)Ensembl
Rnor_6.0 Ensembl982,556,573 - 82,564,294 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000117593   ⟹   ENSRNOP00000094817
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl976,850,982 - 76,857,445 (+)Ensembl
RefSeq Acc Id: NM_022531   ⟹   NP_071976
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
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 ENSRNOP00000026860
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:
RefSeq Acc Id: ENSRNOP00000026860   ⟸   ENSRNOT00000026860
RefSeq Acc Id: ENSRNOP00000094817   ⟸   ENSRNOT00000117593
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


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

RGD ID:13696780
Promoter ID:EPDNEW_R7304
Type:multiple initiation site
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database,
Experiment Methods:Single-end sequencing.
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, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000026860 ENTREZGENE
  ENSRNOT00000026860.5 UniProtKB/TrEMBL
  ENSRNOT00000117593.1 UniProtKB/TrEMBL
Gene3D-CATH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Single helix bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro IF_conserved UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Intermed_filament_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:64362 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Filament_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Des PhenoGen
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_ROD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000019810 RatGTEx
SMART Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DESM_RAT UniProtKB/Swiss-Prot
UniProt Secondary Q6P725 UniProtKB/TrEMBL

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