DNAJC13 (DnaJ heat shock protein family (Hsp40) member C13) - Rat Genome Database

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Gene: DNAJC13 (DnaJ heat shock protein family (Hsp40) member C13) Homo sapiens
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Symbol: DNAJC13
Name: DnaJ heat shock protein family (Hsp40) member C13
RGD ID: 1317589
HGNC Page HGNC:30343
Description: Involved in endosome organization; regulation of early endosome to late endosome transport; and regulation of early endosome to recycling endosome transport. Located in WASH complex; cytosol; and early endosome membrane. Implicated in Parkinson's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DnaJ (Hsp40) homolog, subfamily C, member 13; DnaJ domain-containing protein RME-8; dnaJ homolog subfamily C member 13; FLJ25863; KIAA0678; PARK21; required for receptor-mediated endocytosis 8; RME-8; RME8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383132,417,502 - 132,539,032 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3132,417,502 - 132,539,032 (+)EnsemblGRCh38hg38GRCh38
GRCh373132,136,346 - 132,257,876 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363133,619,243 - 133,740,566 (+)NCBINCBI36Build 36hg18NCBI36
Celera3130,562,832 - 130,684,152 (+)NCBICelera
Cytogenetic Map3q22.1NCBI
HuRef3129,515,775 - 129,637,299 (+)NCBIHuRef
CHM1_13132,099,536 - 132,220,871 (+)NCBICHM1_1
T2T-CHM13v2.03135,161,977 - 135,283,543 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DNAJC13HumanParkinson's disease  IAGP 10450845 RGD 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DNAJC13Humanalkaptonuria  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: AlkaptonuriaClinVarPMID:12501223 more ...
DNAJC13Humanessential tremor  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Essential tremorClinVarPMID:24218364 more ...
DNAJC13Humanlate onset Parkinson's disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Parkinson disease and late-onsetClinVarPMID:24218364 more ...
DNAJC13Humannephronophthisis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: NephronophthisisClinVarPMID:28492532
DNAJC13HumanParkinson's disease 21  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Parkinson disease 21ClinVarPMID:24218364 more ...
DNAJC13HumanParkinson's disease 21  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Parkinson disease 21ClinVarPMID:28492532
DNAJC13HumanPrimary Lymphedema with Myelodysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Emberger syndromeClinVarPMID:22147895 and PMID:25741868
DNAJC13Humanvascular dementia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Vascular dementiaClinVarPMID:35307828

1 to 20 of 57 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DNAJC13Human(-)-epigallocatechin 3-gallate multiple interactionsEXP 6480464[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of DNAJC13 mRNACTDPMID:22079256
DNAJC13Human2,2',4,4'-Tetrabromodiphenyl ether decreases expressionEXP 64804642 more ...CTDPMID:31675489
DNAJC13Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISODnajc13 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of DNAJC13 mRNACTDPMID:33387578
DNAJC13Human2,6-dinitrotoluene affects expressionISODnajc13 (Rattus norvegicus)64804642 and 6-dinitrotoluene affects the expression of DNAJC13 mRNACTDPMID:21346803
DNAJC13Human2-bromohexadecanoic acid multiple interactionsEXP 64804642-bromopalmitate inhibits the reaction [[Cadmium Chloride results in increased abundance of Cadmium] which results in increased palmitoylation of DNAJC13 protein]CTDPMID:38195004
DNAJC13Human3,3',5,5'-tetrabromobisphenol A decreases expressionEXP 6480464tetrabromobisphenol A results in decreased expression of DNAJC13 proteinCTDPMID:31675489
DNAJC13Human3,4-methylenedioxymethamphetamine increases methylationISODnajc13 (Mus musculus)6480464N-Methyl-3 and 4-methylenedioxyamphetamine results in increased methylation of DNAJC13 promoterCTDPMID:26251327
DNAJC13Human3,4-methylenedioxymethamphetamine decreases expressionISODnajc13 (Mus musculus)6480464N-Methyl-3 and 4-methylenedioxyamphetamine results in decreased expression of DNAJC13 mRNACTDPMID:26251327
DNAJC13Human4-hydroxyphenyl retinamide increases expressionISODnajc13 (Mus musculus)6480464Fenretinide results in increased expression of DNAJC13 mRNACTDPMID:28973697
DNAJC13Humanacrolein multiple interactionsEXP 6480464[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased oxidation of DNAJC13 mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in increased oxidation of DNAJC13 mRNACTDPMID:32699268
DNAJC13Humanacrylamide decreases expressionISODnajc13 (Rattus norvegicus)6480464Acrylamide results in decreased expression of DNAJC13 mRNACTDPMID:28959563
DNAJC13Humanaflatoxin B1 increases expressionISODnajc13 (Mus musculus)6480464Aflatoxin B1 results in increased expression of DNAJC13 mRNACTDPMID:19770486
DNAJC13Humanaflatoxin B1 decreases methylationEXP 6480464Aflatoxin B1 results in decreased methylation of DNAJC13 geneCTDPMID:27153756
DNAJC13Humanall-trans-retinoic acid increases expressionEXP 6480464Tretinoin results in increased expression of DNAJC13 mRNACTDPMID:33167477
DNAJC13Humanalpha-pinene multiple interactionsEXP 6480464[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased oxidation of DNAJC13 mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in increased oxidation of DNAJC13 mRNACTDPMID:32699268
DNAJC13Humanamitrole decreases expressionISODnajc13 (Rattus norvegicus)6480464Amitrole results in decreased expression of DNAJC13 mRNACTDPMID:38685447
DNAJC13HumanAroclor 1254 decreases expressionISODnajc13 (Mus musculus)6480464Chlorodiphenyl (54% Chlorine) results in decreased expression of DNAJC13 mRNACTDPMID:23650126
DNAJC13Humanarsane multiple interactionsEXP 6480464[sodium arsenite results in increased abundance of Arsenic] which results in decreased expression of DNAJC13 mRNACTDPMID:39836092
DNAJC13Humanarsenic atom multiple interactionsEXP 6480464[sodium arsenite results in increased abundance of Arsenic] which results in decreased expression of DNAJC13 mRNACTDPMID:39836092
DNAJC13Humanarsenite(3-) multiple interactionsEXP 6480464arsenite inhibits the reaction [G3BP1 protein binds to DNAJC13 mRNA]CTDPMID:32406909

1 to 20 of 57 rows

Biological Process

  

Cellular Component
1 to 17 of 17 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DNAJC13Humanazurophil granule membrane located_inTAS 150520179 ReactomeReactome:R-HSA-6798739
DNAJC13Humancytosol located_inIDA 150520179 HPAGO_REF:0000052
DNAJC13Humanearly endosome located_inIEAUniProtKB-SubCell:SL-0094150520179 UniProtGO_REF:0000044
DNAJC13Humanearly endosome membrane located_inIEAUniProtKB-SubCell:SL-0093150520179 UniProtGO_REF:0000044
DNAJC13Humanearly endosome membrane located_inIDA 150520179 PMID:18256511UniProtPMID:18256511
DNAJC13Humanendosome located_inIEAUniProtKB-KW:KW-0967150520179 UniProtGO_REF:0000043
DNAJC13Humanendosome membrane located_inIDA 150520179 PMID:24643499UniProtPMID:24643499
DNAJC13Humanendosome membrane located_inIEAUniProtKB-SubCell:SL-0100150520179 UniProtGO_REF:0000044
DNAJC13Humanendosome membrane is_active_inIBAPANTHER:PTN001181218 more ...150520179 GO_CentralGO_REF:0000033
DNAJC13Humanextracellular exosome located_inHDA 150520179 PMID:19056867UniProtPMID:19056867
DNAJC13Humanintracellular membrane-bounded organelle located_inIDA 150520179 HPAGO_REF:0000052
DNAJC13Humanlysosomal membrane located_inHDA 150520179 PMID:17897319UniProtPMID:17897319
DNAJC13Humanmembrane located_inHDA 150520179 PMID:16210410 and PMID:19946888UniProtPMID:16210410 and PMID:19946888
DNAJC13Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
DNAJC13Humanplasma membrane located_inTAS 150520179 ReactomeReactome:R-HSA-6798739 and Reactome:R-HSA-6798743
DNAJC13Humansecretory granule membrane located_inTAS 150520179 ReactomeReactome:R-HSA-6798743
DNAJC13HumanWASH complex located_inIDA 150520179 PMID:24643499UniProtPMID:24643499
1 to 17 of 17 rows

Molecular Function

  
Object Symbol
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Term
Qualifier
Evidence
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Reference
Notes
Source
Original Reference(s)
DNAJC13Humanprotein binding enablesIPIUniProtKB:O15126150520179 PMID:28514442 and PMID:33961781IntActPMID:28514442 and PMID:33961781
DNAJC13Humanprotein binding enablesIPIUniProtKB:A8K0Z3 more ...150520179 PMID:24643499UniProtPMID:24643499

RGD Manual Annotations


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DNAJC13Humanaltered retromer-mediated pathway  TAS 10450845 RGD 
DNAJC13HumanParkinson's disease pathway   TAS 10450845 RGD 
DNAJC13Humanretromer-mediated pathway  TAS 10450542 RGD 
DNAJC13Humanretromer-mediated pathway  TAS 10450845 RGD 
1 to 20 of 34 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DNAJC13HumanAgitation  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanAkinesia  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanApathy  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanBradykinesia  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanCerebral cortical atrophy  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanChronic constipation  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanDementia  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanDepression  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanDiplopia  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanDyskinesia  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanDysphagia  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanDystonia  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanFrequent falls  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanGliosis  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanHypomimic face  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanHyposmia  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanImpulsivity  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanLewy bodies  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanLow frustration tolerance  IAGP 8699517 HPOORPHA:411602
DNAJC13HumanMental deterioration  IAGP 8699517 HPOORPHA:411602
1 to 20 of 34 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
DNAJC13HumanKinetic tremor  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Essential tremorClinVarPMID:24218364 more ...
DNAJC13HumanNephronophthisis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: NephronophthisisClinVarPMID:28492532

#
Reference Title
Reference Citation
1. Retromer and sorting nexins in endosomal sorting. Gallon M and Cullen PJ, Biochem Soc Trans. 2015 Feb;43(1):33-47. doi: 10.1042/BST20140290.
2. The endosomal pathway in Parkinson's disease. Perrett RM, etal., Mol Cell Neurosci. 2015 May;66(Pt A):21-8. doi: 10.1016/j.mcn.2015.02.009. Epub 2015 Feb 19.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
PMID:9734811   PMID:12438707   PMID:12477932   PMID:14702039   PMID:15051737   PMID:15302935   PMID:15489334   PMID:15538384   PMID:15840729   PMID:16179350   PMID:16210410   PMID:17897319  
PMID:18022941   PMID:18256511   PMID:18307993   PMID:19056867   PMID:19874558   PMID:19946888   PMID:20467437   PMID:21145461   PMID:21674799   PMID:21873635   PMID:21900206   PMID:22507240  
PMID:22810586   PMID:23402259   PMID:24097068   PMID:24126164   PMID:24218364   PMID:24639526   PMID:24643499   PMID:25118025   PMID:25186792   PMID:25393719   PMID:25544563   PMID:25550792  
PMID:25921289   PMID:26134565   PMID:26167880   PMID:26186194   PMID:26278106   PMID:26344197   PMID:26496610   PMID:26965686   PMID:27034005   PMID:27173435   PMID:27236598   PMID:27432908  
PMID:27591049   PMID:27880917   PMID:28065597   PMID:28514442   PMID:28611215   PMID:29180619   PMID:29309590   PMID:29467282   PMID:29478914   PMID:29491746   PMID:29507755   PMID:29509190  
PMID:29568061   PMID:29887357   PMID:30021884   PMID:30471916   PMID:30737378   PMID:31048545   PMID:31082451   PMID:31091453   PMID:31343991   PMID:31586073   PMID:32322926   PMID:32513696  
PMID:32614325   PMID:32687490   PMID:32850835   PMID:33005030   PMID:33239198   PMID:33239621   PMID:33545068   PMID:33658012   PMID:33731348   PMID:33957083   PMID:33961781   PMID:34079125  
PMID:34315543   PMID:34349018   PMID:34432599   PMID:34650049   PMID:34709266   PMID:34732716   PMID:35271311   PMID:35439318   PMID:35844135   PMID:35850772   PMID:35915203   PMID:35944360  
PMID:36168628   PMID:36215168   PMID:36232890   PMID:36517590   PMID:36538041   PMID:37232246   PMID:37788672   PMID:38113892   PMID:38697112   PMID:39098523  



DNAJC13
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383132,417,502 - 132,539,032 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3132,417,502 - 132,539,032 (+)EnsemblGRCh38hg38GRCh38
GRCh373132,136,346 - 132,257,876 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363133,619,243 - 133,740,566 (+)NCBINCBI36Build 36hg18NCBI36
Celera3130,562,832 - 130,684,152 (+)NCBICelera
Cytogenetic Map3q22.1NCBI
HuRef3129,515,775 - 129,637,299 (+)NCBIHuRef
CHM1_13132,099,536 - 132,220,871 (+)NCBICHM1_1
T2T-CHM13v2.03135,161,977 - 135,283,543 (+)NCBIT2T-CHM13v2.0
Dnajc13
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399104,028,796 - 104,140,807 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9104,028,481 - 104,140,129 (-)EnsemblGRCm39 Ensembl
GRCm389104,151,597 - 104,263,608 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9104,151,282 - 104,262,930 (-)EnsemblGRCm38mm10GRCm38
MGSCv379104,053,927 - 104,165,260 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369104,009,627 - 104,124,570 (-)NCBIMGSCv36mm8
Celera9103,704,588 - 103,815,197 (-)NCBICelera
Cytogenetic Map9F1NCBI
cM Map956.61NCBI
Dnajc13
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88113,646,573 - 113,756,104 (-)NCBIGRCr8
mRatBN7.28104,767,785 - 104,877,317 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8104,767,788 - 104,877,317 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8110,414,878 - 110,524,417 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08108,614,065 - 108,723,604 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08106,456,768 - 106,566,306 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08112,697,907 - 112,830,445 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8112,698,348 - 112,807,598 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08112,084,097 - 112,193,820 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48109,211,093 - 109,304,212 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.18109,230,855 - 109,340,202 (-)NCBI
Celera8104,132,362 - 104,265,570 (-)NCBICelera
Cytogenetic Map8q32NCBI
Dnajc13
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555015,976,182 - 6,093,384 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555015,980,407 - 6,111,424 (-)NCBIChiLan1.0ChiLan1.0
DNAJC13
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22130,370,262 - 130,489,497 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13130,374,990 - 130,494,225 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03129,492,658 - 129,612,040 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13136,970,007 - 137,088,775 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3136,970,007 - 137,088,775 (+)Ensemblpanpan1.1panPan2
DNAJC13
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12329,389,120 - 29,506,339 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2329,389,979 - 29,506,343 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2329,363,599 - 29,480,811 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02329,902,287 - 30,019,700 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2329,902,343 - 30,019,691 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12329,595,604 - 29,713,015 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02329,654,643 - 29,772,015 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02329,903,248 - 30,021,073 (+)NCBIUU_Cfam_GSD_1.0
Dnajc13
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560269,007,767 - 69,123,177 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365295,785,538 - 5,883,097 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365295,768,229 - 5,883,841 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNAJC13
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1373,573,926 - 73,707,948 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11373,573,887 - 73,707,951 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21381,147,749 - 81,279,638 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DNAJC13
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11557,727,636 - 57,846,469 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1557,726,576 - 57,846,478 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604130,715,919 - 30,836,232 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnajc13
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247308,517,998 - 8,648,318 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247308,497,781 - 8,649,058 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in DNAJC13
335 total Variants

1 to 10 of 332 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_015268.4(DNAJC13):c.2564A>G (p.Asn855Ser) single nucleotide variant Essential tremor [RCV000170476]|Parkinson disease 21 [RCV000170494]|Parkinson disease, late-onset [RCV000049582] Chr3:132477995 [GRCh38]
Chr3:132196839 [GRCh37]
Chr3:3q22.1
pathogenic|uncertain significance
NM_015268.4(DNAJC13):c.217C>T (p.Arg73Cys) single nucleotide variant not specified [RCV004118827] Chr3:132447393 [GRCh38]
Chr3:132166237 [GRCh37]
Chr3:133648927 [NCBI36]
Chr3:3q22.1
uncertain significance|not provided
NM_015268.3(DNAJC13):c.1984G>A (p.Ala662Thr) single nucleotide variant Malignant melanoma [RCV000065841] Chr3:132466314 [GRCh38]
Chr3:132185158 [GRCh37]
Chr3:133667848 [NCBI36]
Chr3:3q22.1
not provided
NM_015268.3(DNAJC13):c.4558C>T (p.Leu1520Phe) single nucleotide variant Malignant melanoma [RCV000065842] Chr3:132502310 [GRCh38]
Chr3:132221154 [GRCh37]
Chr3:133703844 [NCBI36]
Chr3:3q22.1
not provided
NM_015268.4(DNAJC13):c.5450C>T (p.Ser1817Phe) single nucleotide variant not specified [RCV004273767] Chr3:132514635 [GRCh38]
Chr3:132233479 [GRCh37]
Chr3:133716169 [NCBI36]
Chr3:3q22.1
uncertain significance|not provided
NM_015268.4(DNAJC13):c.4199G>A (p.Arg1400Gln) single nucleotide variant not provided [RCV000999551] Chr3:132499168 [GRCh38]
Chr3:132218012 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 copy number loss See cases [RCV000136558] Chr3:129817243..143381624 [GRCh38]
Chr3:129536086..143100466 [GRCh37]
Chr3:131018776..144583156 [NCBI36]
Chr3:3q22.1-24
pathogenic
NM_015268.3(DNAJC13):c.3268-1454A>G single nucleotide variant Lung cancer [RCV000092920] Chr3:132486844 [GRCh38]
Chr3:132205688 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_015268.4(DNAJC13):c.6545G>A (p.Arg2182His) single nucleotide variant not provided [RCV000999552] Chr3:132531017 [GRCh38]
Chr3:132249861 [GRCh37]
Chr3:3q22.1
uncertain significance
1 to 10 of 332 rows

Predicted Target Of
Summary Value
Count of predictions:1086
Count of miRNA genes:708
Interacting mature miRNAs:800
Transcripts:ENST00000260818, ENST00000463038, ENST00000464766, ENST00000471925, ENST00000486798, ENST00000506813, ENST00000509279, ENST00000513822
Prediction methods:Microtar, 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.


1 to 10 of 97 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597082001GWAS1178075_Hneutrophil count QTL GWAS1178075 (human)1e-15neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)3132487447132487448Human
407383873GWAS1032849_Hobsolete_red blood cell distribution width QTL GWAS1032849 (human)4e-38obsolete_red blood cell distribution width3132479151132479152Human
597234066GWAS1330140_Habdominal fat cell number QTL GWAS1330140 (human)0.0000008abdominal fat cell number3132499777132499778Human
597252245GWAS1348319_Haspartate aminotransferase measurement QTL GWAS1348319 (human)2e-16aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)3132507256132507257Human
596949402GWAS1068921_HRed cell distribution width QTL GWAS1068921 (human)1e-10Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)3132483605132483606Human
597299852GWAS1395926_HC-C motif chemokine 21 measurement QTL GWAS1395926 (human)1e-57C-C motif chemokine 21 measurement3132521256132521257Human
597599622GWAS1656482_Hmean corpuscular hemoglobin concentration QTL GWAS1656482 (human)2e-38mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)3132473788132473789Human
597089676GWAS1185750_HRed cell distribution width QTL GWAS1185750 (human)4e-40Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)3132479151132479152Human
597079693GWAS1175767_HRed cell distribution width QTL GWAS1175767 (human)4e-38Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)3132479151132479152Human
597035915GWAS1131989_Hlow density lipoprotein cholesterol measurement QTL GWAS1131989 (human)1e-18low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)3132498859132498860Human

1 to 10 of 97 rows
RH103473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373132,239,209 - 132,239,335UniSTSGRCh37
Build 363133,721,899 - 133,722,025RGDNCBI36
Celera3130,665,485 - 130,665,611RGD
Cytogenetic Map3q22.1UniSTS
HuRef3129,618,632 - 129,618,758UniSTS
GeneMap99-GB4 RH Map3472.49UniSTS
SHGC-77351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373132,257,636 - 132,257,743UniSTSGRCh37
Build 363133,740,326 - 133,740,433RGDNCBI36
Celera3130,683,912 - 130,684,019RGD
Cytogenetic Map3q22.1UniSTS
HuRef3129,637,059 - 129,637,166UniSTS
TNG Radiation Hybrid Map376503.0UniSTS
GeneMap99-GB4 RH Map3470.32UniSTS
SHGC-77348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373132,224,730 - 132,224,867UniSTSGRCh37
Build 363133,707,420 - 133,707,557RGDNCBI36
Celera3130,651,006 - 130,651,143RGD
Cytogenetic Map3q22.1UniSTS
HuRef3129,604,146 - 129,604,283UniSTS
TNG Radiation Hybrid Map376471.0UniSTS
GeneMap99-GB4 RH Map3463.72UniSTS
A006Y18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373132,244,308 - 132,244,417UniSTSGRCh37
Build 363133,726,998 - 133,727,107RGDNCBI36
Celera3130,670,584 - 130,670,693RGD
Cytogenetic Map3q22.1UniSTS
HuRef3129,623,731 - 129,623,840UniSTS
GeneMap99-GB4 RH Map3472.97UniSTS
NCBI RH Map31186.1UniSTS
DNAJC13_3796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373132,257,228 - 132,257,906UniSTSGRCh37
Build 363133,739,918 - 133,740,596RGDNCBI36
Celera3130,683,504 - 130,684,182RGD
HuRef3129,636,651 - 129,637,329UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1


1 to 28 of 28 rows
RefSeq Transcripts NG_051045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI189887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY369172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY779857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 28 of 28 rows

Ensembl Acc Id: ENST00000260818   ⟹   ENSP00000260818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,417,502 - 132,539,032 (+)Ensembl
Ensembl Acc Id: ENST00000463038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,522,973 - 132,524,017 (+)Ensembl
Ensembl Acc Id: ENST00000464766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,474,256 - 132,482,289 (+)Ensembl
Ensembl Acc Id: ENST00000471925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,456,294 - 132,458,349 (+)Ensembl
Ensembl Acc Id: ENST00000486798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,417,709 - 132,467,346 (+)Ensembl
Ensembl Acc Id: ENST00000506813   ⟹   ENSP00000421735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,479,227 - 132,488,409 (+)Ensembl
Ensembl Acc Id: ENST00000509279   ⟹   ENSP00000426240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,528,202 - 132,538,508 (+)Ensembl
Ensembl Acc Id: ENST00000513822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,513,008 - 132,514,816 (+)Ensembl
Ensembl Acc Id: ENST00000650455   ⟹   ENSP00000496825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3132,417,708 - 132,539,021 (+)Ensembl
RefSeq Acc Id: NM_001329126   ⟹   NP_001316055
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383132,417,502 - 132,539,032 (+)NCBI
T2T-CHM13v2.03135,161,977 - 135,283,543 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015268   ⟹   NP_056083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383132,417,502 - 132,539,032 (+)NCBI
GRCh373132,136,361 - 132,257,876 (+)NCBI
Build 363133,619,243 - 133,740,566 (+)NCBI Archive
Celera3130,562,832 - 130,684,152 (+)RGD
HuRef3129,515,775 - 129,637,299 (+)ENTREZGENE
CHM1_13132,099,536 - 132,220,871 (+)NCBI
T2T-CHM13v2.03135,161,977 - 135,283,543 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047447819   ⟹   XP_047303775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383132,417,697 - 132,539,032 (+)NCBI
RefSeq Acc Id: XM_047447820   ⟹   XP_047303776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383132,417,697 - 132,539,032 (+)NCBI
RefSeq Acc Id: XM_054345884   ⟹   XP_054201859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03135,162,314 - 135,283,543 (+)NCBI
RefSeq Acc Id: XM_054345885   ⟹   XP_054201860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03135,162,315 - 135,283,543 (+)NCBI
1 to 5 of 10 rows
1 to 5 of 10 rows
RefSeq Acc Id: NP_056083   ⟸   NM_015268
- Peptide Label: isoform 2
- UniProtKB: Q96DC1 (UniProtKB/Swiss-Prot),   Q86XG3 (UniProtKB/Swiss-Prot),   Q6ZUT5 (UniProtKB/Swiss-Prot),   Q6ZSW1 (UniProtKB/Swiss-Prot),   Q6UJ77 (UniProtKB/Swiss-Prot),   Q6PI82 (UniProtKB/Swiss-Prot),   Q3L0T1 (UniProtKB/Swiss-Prot),   Q9BWK9 (UniProtKB/Swiss-Prot),   O75165 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316055   ⟸   NM_001329126
- Peptide Label: isoform 1
- UniProtKB: B3KN02 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000421735   ⟸   ENST00000506813
Ensembl Acc Id: ENSP00000496825   ⟸   ENST00000650455
Ensembl Acc Id: ENSP00000426240   ⟸   ENST00000509279
Name Modeler Protein Id AA Range Protein Structure
AF-O75165-F1-model_v2 AlphaFold O75165 1-2243 view protein structure

RGD ID:6865688
Promoter ID:EPDNEW_H6009
Type:initiation region
Name:DNAJC13_1
Description:DnaJ heat shock protein family member C13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6010  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383132,417,516 - 132,417,576EPDNEW
RGD ID:6865690
Promoter ID:EPDNEW_H6010
Type:initiation region
Name:DNAJC13_2
Description:DnaJ heat shock protein family member C13
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6009  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383132,417,697 - 132,417,757EPDNEW
RGD ID:6800855
Promoter ID:HG_KWN:46229
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000260818,   UC010HTQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363133,618,681 - 133,619,522 (+)MPROMDB


1 to 40 of 54 rows
Database
Acc Id
Source(s)
COSMIC DNAJC13 COSMIC
Ensembl Genes ENSG00000138246 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000260818 ENTREZGENE
  ENST00000260818.11 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.110 UniProtKB/Swiss-Prot
  1.25.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000138246 GTEx
HGNC ID HGNC:30343 ENTREZGENE
Human Proteome Map DNAJC13 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot
  ARM-type_fold UniProtKB/Swiss-Prot
  DnaJ_domain UniProtKB/Swiss-Prot
  GRV2/DNAJC13 UniProtKB/Swiss-Prot
  GRV2/DNAJC13_N UniProtKB/Swiss-Prot
  GYF-like_dom_sf UniProtKB/Swiss-Prot
  GYF_2 UniProtKB/Swiss-Prot
  J_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:23317 UniProtKB/Swiss-Prot
NCBI Gene 23317 ENTREZGENE
OMIM 614334 OMIM
PANTHER DNAJ HOMOLOG SUBFAMILY C MEMBER 13 UniProtKB/Swiss-Prot
  PTHR36983 UniProtKB/Swiss-Prot
Pfam DnaJ UniProtKB/Swiss-Prot
  GYF_2 UniProtKB/Swiss-Prot
  RME-8_N UniProtKB/Swiss-Prot
PharmGKB PA134947358 PharmGKB
PROSITE DNAJ_2 UniProtKB/Swiss-Prot
SMART DnaJ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46565 UniProtKB/Swiss-Prot
  SSF48371 UniProtKB/Swiss-Prot
  SSF55277 UniProtKB/Swiss-Prot
UniProt A0A3B3IRM0_HUMAN UniProtKB/TrEMBL
  B3KN02 ENTREZGENE, UniProtKB/TrEMBL
  DJC13_HUMAN UniProtKB/Swiss-Prot
  H0Y8Q2_HUMAN UniProtKB/TrEMBL
  H0YA63_HUMAN UniProtKB/TrEMBL
  O75165 ENTREZGENE
  Q0D2M7_HUMAN UniProtKB/TrEMBL
  Q3L0T1 ENTREZGENE
  Q6PI82 ENTREZGENE
1 to 40 of 54 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DNAJC13  DnaJ heat shock protein family (Hsp40) member C13    DnaJ (Hsp40) homolog, subfamily C, member 13  Symbol and/or name change 5135510 APPROVED