DNAJC3 (DnaJ heat shock protein family (Hsp40) member C3) - Rat Genome Database

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Gene: DNAJC3 (DnaJ heat shock protein family (Hsp40) member C3) Homo sapiens
Analyze
Symbol: DNAJC3
Name: DnaJ heat shock protein family (Hsp40) member C3
RGD ID: 1347817
HGNC Page HGNC:9439
Description: Predicted to enable several functions, including misfolded protein binding activity; protein kinase inhibitor activity; and protein-folding chaperone binding activity. Involved in negative regulation of apoptotic process and negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation. Located in extracellular exosome and membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACPHD; DnaJ (Hsp40) homolog, subfamily C, member 3; dnaJ homolog subfamily C member 3; endoplasmic reticulum DNA J domain-containing protein 6; endoplasmic reticulum DnaJ protein 6; ER-resident protein ERdj6; ERdj6; FLJ21288; HP58; interferon-induced, double-stranded RNA-activated protein kinase inhibitor; P58; p58(IPK); P58IPK; PRKRI; protein kinase inhibitor of 58 kDa; protein kinase inhibitor p58; protein-kinase, interferon-inducible double stranded RNA dependent inhibitor
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
GRCh381395,677,139 - 95,794,988 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1395,677,139 - 95,794,988 (+)EnsemblGRCh38hg38GRCh38
GRCh371396,329,393 - 96,447,242 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361395,127,484 - 95,241,285 (+)NCBINCBI36Build 36hg18NCBI36
Build 341395,127,483 - 95,241,285NCBI
Celera1377,177,188 - 77,295,039 (+)NCBICelera
Cytogenetic Map13q32.1NCBI
HuRef1376,927,193 - 77,044,763 (+)NCBIHuRef
CHM1_11396,299,542 - 96,417,377 (+)NCBICHM1_1
T2T-CHM13v2.01394,881,700 - 94,999,557 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4-hydroxynon-2-enal  (EXP)
5-aza-2'-deoxycytidine  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
atrazine  (ISO)
benzbromarone  (ISO)
benzene  (ISO)
benzo[a]pyrene  (ISO)
beta-D-glucosamine  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
calcium atom  (EXP)
calcium(0)  (EXP)
carbaryl  (EXP)
carbon nanotube  (ISO)
chenodeoxycholic acid  (EXP)
chlorpyrifos  (ISO)
clobetasol  (ISO)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
coumarin  (ISO)
crocidolite asbestos  (ISO)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP,ISO)
D-glucose  (ISO)
DDT  (ISO)
deoxycholic acid  (EXP)
deoxynivalenol  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethanol  (ISO)
fenofibrate  (ISO)
folic acid  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glucose  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
hydralazine  (EXP)
hydrazine  (ISO)
hydrogen cyanide  (ISO)
ionomycin  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
L-ethionine  (ISO)
L-serine  (EXP)
lead(0)  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
methylparaben  (EXP)
motexafin gadolinium  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nefazodone  (EXP)
Nonidet P-40  (EXP)
omeprazole  (ISO)
ozone  (EXP)
paracetamol  (ISO)
paraquat  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phlorizin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
potassium cyanide  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
resveratrol  (EXP)
retinyl acetate  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
SCH 23390  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
ursodeoxycholic acid  (EXP,ISO)
valproic acid  (EXP)
vitamin E  (EXP)
zinc acetate  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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
Additional References at PubMed
PMID:7511204   PMID:8576172   PMID:8666242   PMID:8824806   PMID:8824808   PMID:9447982   PMID:9920933   PMID:11116152   PMID:11147971   PMID:11526399   PMID:11939789   PMID:11991713  
PMID:12034040   PMID:12269832   PMID:12446838   PMID:12477932   PMID:12601012   PMID:15057823   PMID:15489334   PMID:18568130   PMID:19199708   PMID:19946888   PMID:20237496   PMID:20554776  
PMID:21799829   PMID:21873635   PMID:22064321   PMID:22190034   PMID:23376485   PMID:24134518   PMID:24769233   PMID:25329545   PMID:25466870   PMID:26085089   PMID:26186194   PMID:26344197  
PMID:26638075   PMID:27375898   PMID:28330616   PMID:28611215   PMID:28675297   PMID:29117863   PMID:29568061   PMID:29767246   PMID:29955894   PMID:30021884   PMID:30652414   PMID:31073040  
PMID:31091453   PMID:31470122   PMID:31932471   PMID:32423001   PMID:32457219   PMID:32707033   PMID:32738013   PMID:32994395   PMID:33486469   PMID:33499712   PMID:33545068   PMID:33957083  
PMID:33961781   PMID:34079125   PMID:34597346   PMID:34654017   PMID:34709727   PMID:35007762   PMID:35054769   PMID:35256949   PMID:35338135   PMID:35384245   PMID:35509820   PMID:35696571  
PMID:35831314   PMID:35944360   PMID:36215168   PMID:36217030   PMID:36305789   PMID:36543142   PMID:36966971  


Genomics

Comparative Map Data
DNAJC3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381395,677,139 - 95,794,988 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1395,677,139 - 95,794,988 (+)EnsemblGRCh38hg38GRCh38
GRCh371396,329,393 - 96,447,242 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361395,127,484 - 95,241,285 (+)NCBINCBI36Build 36hg18NCBI36
Build 341395,127,483 - 95,241,285NCBI
Celera1377,177,188 - 77,295,039 (+)NCBICelera
Cytogenetic Map13q32.1NCBI
HuRef1376,927,193 - 77,044,763 (+)NCBIHuRef
CHM1_11396,299,542 - 96,417,377 (+)NCBICHM1_1
T2T-CHM13v2.01394,881,700 - 94,999,557 (+)NCBIT2T-CHM13v2.0
Dnajc3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914119,175,371 - 119,219,114 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl14119,175,388 - 119,219,109 (+)EnsemblGRCm39 Ensembl
GRCm3814118,937,932 - 118,981,702 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14118,937,976 - 118,981,697 (+)EnsemblGRCm38mm10GRCm38
MGSCv3714119,337,154 - 119,380,924 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3614119,337,209 - 119,379,121 (+)NCBIMGSCv36mm8
Celera14117,490,628 - 117,537,345 (+)NCBICelera
Cytogenetic Map14E4NCBI
cM Map1462.6NCBI
Dnajc3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr815102,432,667 - 102,475,643 (+)NCBIGRCr8
mRatBN7.21596,025,605 - 96,068,585 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1596,025,624 - 96,065,181 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1599,935,638 - 99,977,285 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.015101,066,102 - 101,108,631 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01597,995,046 - 98,037,458 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.015104,186,918 - 104,226,236 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl15104,186,792 - 104,226,329 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.015107,610,329 - 107,649,355 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.415103,881,634 - 103,921,295 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.115103,897,413 - 103,937,075 (+)NCBI
Celera1594,875,150 - 94,914,827 (+)NCBICelera
Cytogenetic Map15q24NCBI
Dnajc3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540414,360,832 - 14,412,533 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540414,361,540 - 14,412,533 (-)NCBIChiLan1.0ChiLan1.0
DNAJC3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21497,199,547 - 97,319,864 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11395,877,932 - 95,988,726 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01376,853,053 - 76,963,530 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11395,975,607 - 96,114,256 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1396,033,605 - 96,114,165 (+)Ensemblpanpan1.1panPan2
DNAJC3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12246,323,263 - 46,402,240 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2246,307,905 - 46,398,625 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2246,093,175 - 46,185,499 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02246,737,351 - 46,829,808 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2246,736,369 - 46,844,494 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12246,400,716 - 46,493,029 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02246,433,934 - 46,526,175 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02246,439,531 - 46,531,587 (+)NCBIUU_Cfam_GSD_1.0
Dnajc3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945181,825,991 - 181,896,607 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647214,055,532 - 14,126,211 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647214,055,548 - 14,126,173 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNAJC3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1165,230,162 - 65,303,834 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11165,230,145 - 65,299,084 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21172,092,332 - 72,161,773 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DNAJC3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1374,474,643 - 74,582,942 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl374,474,548 - 74,579,048 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604630,900,130 - 31,009,831 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnajc3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248792,369,237 - 2,434,433 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248792,369,332 - 2,434,433 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNAJC3
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.2-32.1(chr13:88260962-97285754)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|See cases [RCV000051415] Chr13:88260962..97285754 [GRCh38]
Chr13:88913217..97938008 [GRCh37]
Chr13:87711218..96736009 [NCBI36]
Chr13:13q31.2-32.1
pathogenic
GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1 copy number loss See cases [RCV000051416] Chr13:88323009..98888644 [GRCh38]
Chr13:88975264..99540898 [GRCh37]
Chr13:87773265..98338899 [NCBI36]
Chr13:13q31.2-32.3
pathogenic
GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1 copy number loss See cases [RCV000051417] Chr13:89549510..96657834 [GRCh38]
Chr13:90201764..97310088 [GRCh37]
Chr13:88999765..96108089 [NCBI36]
Chr13:13q31.3-32.1
pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34
pathogenic
GRCh38/hg38 13q31.3-32.1(chr13:93571649-97428965)x1 copy number loss See cases [RCV000051419] Chr13:93571649..97428965 [GRCh38]
Chr13:94223902..98081219 [GRCh37]
Chr13:93021903..96879220 [NCBI36]
Chr13:13q31.3-32.1
pathogenic
GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3 copy number gain See cases [RCV000051179] Chr13:82032938..106082542 [GRCh38]
Chr13:82607073..106734891 [GRCh37]
Chr13:81505074..105532892 [NCBI36]
Chr13:13q31.1-33.2
pathogenic
GRCh38/hg38 13q32.1(chr13:95781492-97429106)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052028]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052028]|See cases [RCV000052028] Chr13:95781492..97429106 [GRCh38]
Chr13:96433746..98081360 [GRCh37]
Chr13:95231747..96879361 [NCBI36]
Chr13:13q32.1
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q31.3-33.1(chr13:93213623-101537104)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|See cases [RCV000053790] Chr13:93213623..101537104 [GRCh38]
Chr13:93865876..102189455 [GRCh37]
Chr13:92663877..100987456 [NCBI36]
Chr13:13q31.3-33.1
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34
pathogenic
GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1 copy number loss See cases [RCV000136688] Chr13:93345058..109458154 [GRCh38]
Chr13:93997311..110110501 [GRCh37]
Chr13:92795312..108908502 [NCBI36]
Chr13:13q31.3-33.3
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3 copy number gain See cases [RCV000139021] Chr13:95744855..110863818 [GRCh38]
Chr13:96397109..111516165 [GRCh37]
Chr13:95195110..110314166 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1 copy number loss See cases [RCV000139047] Chr13:87944479..99866542 [GRCh38]
Chr13:88596734..100518796 [GRCh37]
Chr13:87394735..99316797 [NCBI36]
Chr13:13q31.2-32.3
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
NM_006260.5(DNAJC3):c.580C>T (p.Arg194Ter) single nucleotide variant Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome [RCV000150040]|Malignant tumor of prostate [RCV000206865] Chr13:95760073 [GRCh38]
Chr13:96412327 [GRCh37]
Chr13:13q32.1
pathogenic|uncertain significance|not provided
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
NM_006260.5(DNAJC3):c.808A>C (p.Lys270Gln) single nucleotide variant not provided [RCV000382428] Chr13:95760758 [GRCh38]
Chr13:96413012 [GRCh37]
Chr13:13q32.1
uncertain significance
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q32.1-32.3(chr13:95677119-100521192)x1 copy number loss See cases [RCV000447261] Chr13:95677119..100521192 [GRCh37]
Chr13:13q32.1-32.3
uncertain significance
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34
pathogenic
GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1 copy number loss See cases [RCV000448988] Chr13:81851091..102864674 [GRCh37]
Chr13:13q31.1-33.1
pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
NM_006260.5(DNAJC3):c.1177C>T (p.Arg393Ter) single nucleotide variant Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome [RCV001283847]|not provided [RCV000493439] Chr13:95786040 [GRCh38]
Chr13:96438294 [GRCh37]
Chr13:13q32.1
pathogenic|likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1 copy number loss See cases [RCV000510890] Chr13:80572498..108719528 [GRCh37]
Chr13:13q31.1-33.3
pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 copy number gain See cases [RCV000512571] Chr13:53932358..96586363 [GRCh37]
Chr13:13q14.3-32.1
pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q31.3-32.1(chr13:94857382-96639428)x3 copy number gain not provided [RCV000683550] Chr13:94857382..96639428 [GRCh37]
Chr13:13q31.3-32.1
uncertain significance
GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1 copy number loss not provided [RCV000683570] Chr13:94703767..109731879 [GRCh37]
Chr13:13q31.3-33.3
pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
GRCh37/hg19 13q31.3-32.1(chr13:93348248-96975820)x3 copy number gain not provided [RCV000683560] Chr13:93348248..96975820 [GRCh37]
Chr13:13q31.3-32.1
uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q32.1(chr13:96301936-96807771)x1 copy number loss not provided [RCV000738338] Chr13:96301936..96807771 [GRCh37]
Chr13:13q32.1
benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
NM_006260.5(DNAJC3):c.78C>T (p.Tyr26=) single nucleotide variant DNAJC3-related condition [RCV003940453]|not provided [RCV000882464] Chr13:95677333 [GRCh38]
Chr13:96329587 [GRCh37]
Chr13:13q32.1
benign
NM_006260.5(DNAJC3):c.1377C>T (p.Asp459=) single nucleotide variant not provided [RCV000916008] Chr13:95790892 [GRCh38]
Chr13:96443146 [GRCh37]
Chr13:13q32.1
likely benign
NM_006260.5(DNAJC3):c.1036C>A (p.Arg346=) single nucleotide variant not provided [RCV000879699] Chr13:95763914 [GRCh38]
Chr13:96416168 [GRCh37]
Chr13:13q32.1
likely benign
NM_006260.5(DNAJC3):c.848+10T>C single nucleotide variant DNAJC3-related condition [RCV003913232]|not provided [RCV000947534] Chr13:95760808 [GRCh38]
Chr13:96413062 [GRCh37]
Chr13:13q32.1
benign
NM_006260.5(DNAJC3):c.1209-7C>A single nucleotide variant not provided [RCV000904065] Chr13:95787000 [GRCh38]
Chr13:96439254 [GRCh37]
Chr13:13q32.1
likely benign
NM_006260.5(DNAJC3):c.83-10T>C single nucleotide variant not provided [RCV000938758] Chr13:95709217 [GRCh38]
Chr13:96361471 [GRCh37]
Chr13:13q32.1
likely benign
NM_006260.5(DNAJC3):c.162T>G (p.Ala54=) single nucleotide variant DNAJC3-related condition [RCV003922917]|not provided [RCV000898500] Chr13:95709306 [GRCh38]
Chr13:96361560 [GRCh37]
Chr13:13q32.1
benign|likely benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.3-32.1(chr13:94896219-96993668)x3 copy number gain not provided [RCV001006588] Chr13:94896219..96993668 [GRCh37]
Chr13:13q31.3-32.1
uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34
uncertain significance
NM_006260.5(DNAJC3):c.1469C>A (p.Pro490His) single nucleotide variant Inborn genetic diseases [RCV003275291] Chr13:95790984 [GRCh38]
Chr13:96443238 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_006260.5(DNAJC3):c.456T>C (p.Asp152=) single nucleotide variant not provided [RCV000977882] Chr13:95757706 [GRCh38]
Chr13:96409960 [GRCh37]
Chr13:13q32.1
likely benign
NM_006260.5(DNAJC3):c.60C>T (p.Val20=) single nucleotide variant not provided [RCV000952717] Chr13:95677315 [GRCh38]
Chr13:96329569 [GRCh37]
Chr13:13q32.1
likely benign
NM_006260.5(DNAJC3):c.1060G>C (p.Glu354Gln) single nucleotide variant DNAJC3-related condition [RCV003930769]|not provided [RCV000890083]|not specified [RCV001818661] Chr13:95763938 [GRCh38]
Chr13:96416192 [GRCh37]
Chr13:13q32.1
benign|likely benign
NM_006260.5(DNAJC3):c.1242C>T (p.Tyr414=) single nucleotide variant not provided [RCV000913528] Chr13:95787040 [GRCh38]
Chr13:96439294 [GRCh37]
Chr13:13q32.1
benign|likely benign
NM_006260.5(DNAJC3):c.297A>G (p.Gln99=) single nucleotide variant DNAJC3-related condition [RCV003958324]|not provided [RCV000911151] Chr13:95723345 [GRCh38]
Chr13:96375599 [GRCh37]
Chr13:13q32.1
likely benign
GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1 copy number loss not provided [RCV002473593] Chr13:93535335..105788229 [GRCh37]
Chr13:13q31.3-33.2
pathogenic
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34
pathogenic
GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1 copy number loss not provided [RCV001006589] Chr13:96240346..106103782 [GRCh37]
Chr13:13q32.1-33.2
pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
GRCh37/hg19 13q32.1(chr13:96225567-96456089)x3 copy number gain not provided [RCV001259165] Chr13:96225567..96456089 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_006260.5(DNAJC3):c.1296_1300del (p.Lys433fs) microsatellite Inborn genetic diseases [RCV001266417] Chr13:95787087..95787091 [GRCh38]
Chr13:96439341..96439345 [GRCh37]
Chr13:13q32.1
likely pathogenic
NM_006260.5(DNAJC3):c.1243C>T (p.Arg415Ter) single nucleotide variant Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome [RCV003145504]|not provided [RCV001269996] Chr13:95787041 [GRCh38]
Chr13:96439295 [GRCh37]
Chr13:13q32.1
pathogenic|uncertain significance
NC_000013.10:g.(?_92002837)_(103343314_?)del deletion Holoprosencephaly 5 [RCV001388033] Chr13:92002837..103343314 [GRCh37]
Chr13:13q31.3-33.1
pathogenic
Single allele deletion Distal monosomy 13q [RCV001391677] Chr13:94679977..111536145 [GRCh37]
Chr13:13q31.3-34
pathogenic
NM_006260.5(DNAJC3):c.1267C>T (p.Pro423Ser) single nucleotide variant not specified [RCV002247785] Chr13:95787065 [GRCh38]
Chr13:96439319 [GRCh37]
Chr13:13q32.1
uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
NM_006260.5(DNAJC3):c.1297A>G (p.Lys433Glu) single nucleotide variant not specified [RCV001822711] Chr13:95787095 [GRCh38]
Chr13:96439349 [GRCh37]
Chr13:13q32.1
uncertain significance
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) copy number loss not specified [RCV002053072] Chr13:79370012..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) copy number loss not specified [RCV002053074] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q32.1-32.3(chr13:95677119-100521192) copy number loss not specified [RCV002053076] Chr13:95677119..100521192 [GRCh37]
Chr13:13q32.1-32.3
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) copy number gain not specified [RCV002053073] Chr13:85037147..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3
pathogenic
NC_000013.10:g.(?_95034648)_(96443284_?)dup duplication not provided [RCV001920618] Chr13:95034648..96443284 [GRCh37]
Chr13:13q32.1
uncertain significance
NC_000013.10:g.(?_93879710)_(96443284_?)dup duplication not provided [RCV003116418] Chr13:93879710..96443284 [GRCh37]
Chr13:13q31.3-32.1
uncertain significance
NM_006260.5(DNAJC3):c.1349C>G (p.Ser450Cys) single nucleotide variant not specified [RCV002247786] Chr13:95787147 [GRCh38]
Chr13:96439401 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_006260.5(DNAJC3):c.206A>G (p.Asp69Gly) single nucleotide variant not specified [RCV002247784] Chr13:95723254 [GRCh38]
Chr13:96375508 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_006260.5(DNAJC3):c.1367_1370del (p.Lys456fs) microsatellite Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome [RCV002260895] Chr13:95790878..95790881 [GRCh38]
Chr13:96443132..96443135 [GRCh37]
Chr13:13q32.1
pathogenic
NM_006260.5(DNAJC3):c.1A>G (p.Met1Val) single nucleotide variant Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome [RCV002260896] Chr13:95677256 [GRCh38]
Chr13:96329510 [GRCh37]
Chr13:13q32.1
pathogenic
NM_006260.5(DNAJC3):c.393+2T>G single nucleotide variant Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome [RCV002260893] Chr13:95725254 [GRCh38]
Chr13:96377508 [GRCh37]
Chr13:13q32.1
pathogenic
NM_006260.5(DNAJC3):c.393+2T>C single nucleotide variant Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome [RCV002260894] Chr13:95725254 [GRCh38]
Chr13:96377508 [GRCh37]
Chr13:13q32.1
pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3 copy number gain See cases [RCV002286354] Chr13:89490345..115062235 [GRCh37]
Chr13:13q31.2-34
pathogenic
NM_006260.5(DNAJC3):c.1036C>T (p.Arg346Ter) single nucleotide variant Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome [RCV002260897] Chr13:95763914 [GRCh38]
Chr13:96416168 [GRCh37]
Chr13:13q32.1
pathogenic
GRCh37/hg19 13q32.1(chr13:96125428-96424697)x3 copy number gain not provided [RCV002473902] Chr13:96125428..96424697 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_006260.5(DNAJC3):c.1305del (p.Glu436fs) deletion Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome [RCV002466799] Chr13:95787103 [GRCh38]
Chr13:96439357 [GRCh37]
Chr13:13q32.1
likely pathogenic
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34
pathogenic
NM_006260.5(DNAJC3):c.1116T>G (p.Asn372Lys) single nucleotide variant Inborn genetic diseases [RCV002684995] Chr13:95785979 [GRCh38]
Chr13:96438233 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_006260.5(DNAJC3):c.61C>G (p.Leu21Val) single nucleotide variant Inborn genetic diseases [RCV002905812] Chr13:95677316 [GRCh38]
Chr13:96329570 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_006260.5(DNAJC3):c.719T>C (p.Leu240Pro) single nucleotide variant Inborn genetic diseases [RCV002729287] Chr13:95760212 [GRCh38]
Chr13:96412466 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_006260.5(DNAJC3):c.420A>C (p.Glu140Asp) single nucleotide variant Inborn genetic diseases [RCV002758810] Chr13:95757670 [GRCh38]
Chr13:96409924 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_006260.5(DNAJC3):c.749A>T (p.Lys250Ile) single nucleotide variant Inborn genetic diseases [RCV002929221] Chr13:95760699 [GRCh38]
Chr13:96412953 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_006260.5(DNAJC3):c.1097C>G (p.Ala366Gly) single nucleotide variant Inborn genetic diseases [RCV002831540] Chr13:95785960 [GRCh38]
Chr13:96438214 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_006260.5(DNAJC3):c.1201G>C (p.Val401Leu) single nucleotide variant Inborn genetic diseases [RCV003207221] Chr13:95786064 [GRCh38]
Chr13:96438318 [GRCh37]
Chr13:13q32.1
uncertain significance
GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3 copy number gain See cases [RCV003159553] Chr13:95700999..105271065 [GRCh37]
Chr13:13q32.1-33.2
pathogenic
NM_006260.5(DNAJC3):c.1012G>C (p.Asp338His) single nucleotide variant Inborn genetic diseases [RCV003373272] Chr13:95763890 [GRCh38]
Chr13:96416144 [GRCh37]
Chr13:13q32.1
uncertain significance
NM_006260.5(DNAJC3):c.1475G>C (p.Ser492Thr) single nucleotide variant Inborn genetic diseases [RCV003371486] Chr13:95790990 [GRCh38]
Chr13:96443244 [GRCh37]
Chr13:13q32.1
uncertain significance
GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1 copy number loss not provided [RCV003483192] Chr13:82131211..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1 copy number loss not provided [RCV003483190] Chr13:73132193..104595598 [GRCh37]
Chr13:13q21.33-33.1
pathogenic
GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1 copy number loss not provided [RCV003483195] Chr13:89012420..106371634 [GRCh37]
Chr13:13q31.2-33.2
pathogenic
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
NM_006260.5(DNAJC3):c.1422C>T (p.Gly474=) single nucleotide variant not provided [RCV003398345] Chr13:95790937 [GRCh38]
Chr13:96443191 [GRCh37]
Chr13:13q32.1
likely benign
GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1 copy number loss not specified [RCV003987038] Chr13:84669397..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3 copy number gain not specified [RCV003987023] Chr13:82876219..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 copy number loss not specified [RCV003987008] Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2
pathogenic
GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1 copy number loss not specified [RCV003987009] Chr13:64825656..103641349 [GRCh37]
Chr13:13q21.31-33.1
pathogenic
NM_006260.5(DNAJC3):c.1398T>C (p.Asp466=) single nucleotide variant DNAJC3-related condition [RCV003954420] Chr13:95790913 [GRCh38]
Chr13:96443167 [GRCh37]
Chr13:13q32.1
likely benign
NM_006260.5(DNAJC3):c.729-3C>T single nucleotide variant DNAJC3-related condition [RCV003951370] Chr13:95760676 [GRCh38]
Chr13:96412930 [GRCh37]
Chr13:13q32.1
likely benign
NM_006260.5(DNAJC3):c.111T>A (p.Val37=) single nucleotide variant DNAJC3-related condition [RCV003954382] Chr13:95709255 [GRCh38]
Chr13:96361509 [GRCh37]
Chr13:13q32.1
likely benign
NM_006260.5(DNAJC3):c.1323T>A (p.Asp441Glu) single nucleotide variant DNAJC3-related condition [RCV003947380] Chr13:95787121 [GRCh38]
Chr13:96439375 [GRCh37]
Chr13:13q32.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1400
Count of miRNA genes:697
Interacting mature miRNAs:780
Transcripts:ENST00000376795, ENST00000602402
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.

Markers in Region
WI-17122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,445,042 - 96,445,152UniSTSGRCh37
Build 361395,243,043 - 95,243,153RGDNCBI36
Celera1377,292,838 - 77,292,948RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,042,562 - 77,042,672UniSTS
GeneMap99-GB4 RH Map13270.8UniSTS
Whitehead-RH Map13252.9UniSTS
SHGC-58612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,443,799 - 96,443,888UniSTSGRCh37
Build 361395,241,800 - 95,241,889RGDNCBI36
Celera1377,291,595 - 77,291,684RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,041,319 - 77,041,408UniSTS
RH101951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,446,986 - 96,447,170UniSTSGRCh37
Build 361395,244,987 - 95,245,171RGDNCBI36
Celera1377,294,782 - 77,294,966RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,044,506 - 77,044,690UniSTS
GeneMap99-GB4 RH Map13268.38UniSTS
D13S1038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,398,572 - 96,398,720UniSTSGRCh37
Build 361395,196,573 - 95,196,721RGDNCBI36
Celera1377,246,368 - 77,246,516RGD
Cytogenetic Map13q32.1UniSTS
HuRef1376,996,284 - 76,996,432UniSTS
SHGC-2965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,397,791 - 96,397,971UniSTSGRCh37
Build 361395,195,792 - 95,195,972RGDNCBI36
Celera1377,245,587 - 77,245,767RGD
Cytogenetic Map13q32.1UniSTS
HuRef1376,995,503 - 76,995,683UniSTS
GeneMap99-G3 RH Map131397.0UniSTS
csnpdnajc3-pcr13-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,443,070 - 96,443,355UniSTSGRCh37
Build 361395,241,071 - 95,241,356RGDNCBI36
Celera1377,290,866 - 77,291,151RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,040,590 - 77,040,875UniSTS
csnpdnajc3-pcr3-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,361,353 - 96,361,735UniSTSGRCh37
Build 361395,159,354 - 95,159,736RGDNCBI36
Celera1377,209,149 - 77,209,531RGD
Cytogenetic Map13q32.1UniSTS
HuRef1376,959,035 - 76,959,417UniSTS
csnpdnajc3-pcr4-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,375,328 - 96,375,703UniSTSGRCh37
Build 361395,173,329 - 95,173,704RGDNCBI36
Celera1377,223,124 - 77,223,499RGD
Cytogenetic Map13q32.1UniSTS
HuRef1376,973,010 - 76,973,385UniSTS
csnpdnajc3-pcr6-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,409,747 - 96,410,184UniSTSGRCh37
Build 361395,207,748 - 95,208,185RGDNCBI36
Celera1377,257,543 - 77,257,980RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,007,293 - 77,007,730UniSTS
csnpdnajc3-pcr8-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,412,882 - 96,413,192UniSTSGRCh37
Build 361395,210,883 - 95,211,193RGDNCBI36
Celera1377,260,678 - 77,260,988RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,010,428 - 77,010,738UniSTS
WI-13942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,397,867 - 96,398,016UniSTSGRCh37
Build 361395,195,868 - 95,196,017RGDNCBI36
Celera1377,245,663 - 77,245,812RGD
Cytogenetic Map13q32.1UniSTS
HuRef1376,995,579 - 76,995,728UniSTS
GeneMap99-GB4 RH Map13270.83UniSTS
Whitehead-RH Map13254.7UniSTS
RH45059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,444,074 - 96,444,194UniSTSGRCh37
Build 361395,242,075 - 95,242,195RGDNCBI36
Celera1377,291,870 - 77,291,990RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,041,594 - 77,041,714UniSTS
GeneMap99-GB4 RH Map13270.2UniSTS
NCBI RH Map13838.6UniSTS
A008Q12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371396,444,910 - 96,445,064UniSTSGRCh37
Build 361395,242,911 - 95,243,065RGDNCBI36
Celera1377,292,706 - 77,292,860RGD
Cytogenetic Map13q32.1UniSTS
HuRef1377,042,430 - 77,042,584UniSTS
GeneMap99-GB4 RH Map13270.48UniSTS
NCBI RH Map13839.0UniSTS
D10S2448  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map13q32.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map2q32.3UniSTS


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
Medium 2396 2295 1674 590 1702 433 3681 1190 1827 376 1454 1607 173 1 1201 2129 6 2
Low 43 696 52 34 249 32 676 1007 1907 43 6 6 2 3 659
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA430108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF339773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF339835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY795482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000376795   ⟹   ENSP00000365991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1395,677,158 - 95,791,843 (+)Ensembl
RefSeq Acc Id: ENST00000602402   ⟹   ENSP00000473631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1395,677,139 - 95,794,988 (+)Ensembl
RefSeq Acc Id: NM_006260   ⟹   NP_006251
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381395,677,139 - 95,794,988 (+)NCBI
GRCh371396,329,393 - 96,447,243 (+)ENTREZGENE
Build 361395,127,484 - 95,241,285 (+)NCBI Archive
HuRef1376,927,193 - 77,044,763 (+)ENTREZGENE
CHM1_11396,299,542 - 96,417,377 (+)NCBI
T2T-CHM13v2.01394,881,700 - 94,999,557 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521104   ⟹   XP_011519406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381395,677,139 - 95,794,988 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054374756   ⟹   XP_054230731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01394,881,700 - 94,999,557 (+)NCBI
RefSeq Acc Id: NP_006251   ⟸   NM_006260
- Peptide Label: precursor
- UniProtKB: Q86WT9 (UniProtKB/Swiss-Prot),   Q8N4N2 (UniProtKB/Swiss-Prot),   Q13217 (UniProtKB/Swiss-Prot),   A8KA82 (UniProtKB/TrEMBL),   X6R9L0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519406   ⟸   XM_011521104
- Peptide Label: isoform X1
- UniProtKB: X6R9L0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000365991   ⟸   ENST00000376795
RefSeq Acc Id: ENSP00000473631   ⟸   ENST00000602402
RefSeq Acc Id: XP_054230731   ⟸   XM_054374756
- Peptide Label: isoform X1
Protein Domains
J

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13217-F1-model_v2 AlphaFold Q13217 1-504 view protein structure

Promoters
RGD ID:6791193
Promoter ID:HG_KWN:18305
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376795,   UC001VMO.2,   UC001VMP.1,   UC001VMR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361395,126,551 - 95,127,502 (-)MPROMDB
RGD ID:7226675
Promoter ID:EPDNEW_H19083
Type:initiation region
Name:DNAJC3_1
Description:DnaJ heat shock protein family member C3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381395,677,155 - 95,677,215EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9439 AgrOrtholog
COSMIC DNAJC3 COSMIC
Ensembl Genes ENSG00000102580 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000376795.6 UniProtKB/TrEMBL
  ENST00000602402 ENTREZGENE
  ENST00000602402.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102580 GTEx
HGNC ID HGNC:9439 ENTREZGENE
Human Proteome Map DNAJC3 Human Proteome Map
InterPro DnaJ_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  J_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5611 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5611 ENTREZGENE
OMIM 601184 OMIM
PANTHER DNAJ HOMOLOG SUBFAMILY C MEMBER 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LD25575P UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DnaJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27420 PharmGKB
PRINTS JDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DNAJ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot
SMART DnaJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46565 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8KA82 ENTREZGENE, UniProtKB/TrEMBL
  DNJC3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q86WT9 ENTREZGENE
  Q8N4N2 ENTREZGENE
  X6R9L0 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q86WT9 UniProtKB/Swiss-Prot
  Q8N4N2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DNAJC3  DnaJ heat shock protein family (Hsp40) member C3    DnaJ (Hsp40) homolog, subfamily C, member 3  Symbol and/or name change 5135510 APPROVED