DNAJB9 (DnaJ heat shock protein family (Hsp40) member B9) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: DNAJB9 (DnaJ heat shock protein family (Hsp40) member B9) Homo sapiens
Analyze
Symbol: DNAJB9
Name: DnaJ heat shock protein family (Hsp40) member B9
RGD ID: 737476
HGNC Page HGNC
Description: Enables misfolded protein binding activity. Involved in ubiquitin-dependent ERAD pathway. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp564F1862; DnaJ (Hsp40) homolog, subfamily B, member 9; dnaJ homolog subfamily B member 9; dnaj homolog, subfamily b, member 9; endoplasmic reticulum DNA J domain-containing protein 4; endoplasmic reticulum DnaJ homolog 4; ER-resident protein ERdj4; ERdj4; MDG-1; MDG1; microvascular endothelial differentiation gene 1 protein; MST049; MSTP049
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7108,569,867 - 108,574,850 (+)EnsemblGRCh38hg38GRCh38
GRCh387108,569,874 - 108,574,850 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377108,210,318 - 108,215,294 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367107,997,592 - 108,002,530 (+)NCBINCBI36hg18NCBI36
Build 347107,804,306 - 107,809,245NCBI
Celera7103,023,727 - 103,028,665 (+)NCBI
Cytogenetic Map7q31.1NCBI
HuRef7102,578,406 - 102,583,511 (+)NCBIHuRef
CHM1_17108,143,475 - 108,148,580 (+)NCBICHM1_1
CRA_TCAGchr7v27107,577,403 - 107,582,508 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (EXP)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-diaminotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (EXP)
3,4-dichloroaniline  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-phenylbutyric acid  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP,ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
avobenzone  (EXP)
azoxystrobin  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-D-glucosamine  (ISO)
bicalutamide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbaryl  (EXP)
carbon nanotube  (ISO)
chenodeoxycholic acid  (EXP)
chloroacetaldehyde  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
cidofovir anhydrous  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clodronic acid  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumarin  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
CU-O LINKAGE  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP,ISO)
Deguelin  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichloromethane  (EXP)
diclofenac  (EXP,ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
dimethyl sulfoxide  (ISO)
dinophysistoxin 1  (EXP)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
elesclomol  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
ethyl methanesulfonate  (EXP)
ethylbenzene  (EXP)
fenofibrate  (ISO)
flavonoids  (ISO)
fluoranthene  (ISO)
fluoxetine  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glyphosate  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
hydroquinone O-beta-D-glucopyranoside  (EXP)
ifosfamide  (EXP)
imidacloprid  (ISO)
indometacin  (EXP)
isoflavones  (EXP)
isoprenaline  (ISO)
L-serine  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (EXP)
luteolin  (EXP)
mercury dichloride  (ISO)
metformin  (ISO)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP,ISO)
methylparaben  (EXP)
methylseleninic acid  (EXP)
mifepristone  (EXP)
N-acetyl-L-cysteine  (EXP)
nefazodone  (EXP,ISO)
nickel dichloride  (EXP)
nicotine  (ISO)
nimesulide  (ISO)
o-xylene  (EXP)
organoselenium compound  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
phorbol 13-acetate 12-myristate  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
quinolin-8-ol  (EXP)
rac-lactic acid  (EXP)
raloxifene  (EXP)
resveratrol  (ISO)
rotenone  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thalidomide  (EXP)
thapsigargin  (EXP)
thiabendazole  (ISO)
titanium dioxide  (ISO)
toluene  (EXP)
triadimefon  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (EXP,ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9533036   PMID:11042152   PMID:11147971   PMID:11230166   PMID:11256614   PMID:11525638   PMID:11836248   PMID:12356756   PMID:12477932   PMID:12581160   PMID:12690205   PMID:12975309  
PMID:14516790   PMID:14559994   PMID:14702039   PMID:15456888   PMID:15489334   PMID:15882996   PMID:16169070   PMID:16205636   PMID:16344560   PMID:17132139   PMID:17936241   PMID:18400946  
PMID:18431251   PMID:19123479   PMID:19199708   PMID:19322201   PMID:19815549   PMID:20054003   PMID:20335527   PMID:20554776   PMID:20682791   PMID:21231916   PMID:21988832   PMID:22006218  
PMID:22810586   PMID:24104479   PMID:25146923   PMID:26186194   PMID:28514442   PMID:29198525   PMID:31010480   PMID:31227146   PMID:31285458   PMID:31873072   PMID:31884339   PMID:32049014  
PMID:32557205   PMID:32622524   PMID:32694731   PMID:33060197   PMID:33957083  


Genomics

Comparative Map Data
DNAJB9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7108,569,867 - 108,574,850 (+)EnsemblGRCh38hg38GRCh38
GRCh387108,569,874 - 108,574,850 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377108,210,318 - 108,215,294 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367107,997,592 - 108,002,530 (+)NCBINCBI36hg18NCBI36
Build 347107,804,306 - 107,809,245NCBI
Celera7103,023,727 - 103,028,665 (+)NCBI
Cytogenetic Map7q31.1NCBI
HuRef7102,578,406 - 102,583,511 (+)NCBIHuRef
CHM1_17108,143,475 - 108,148,580 (+)NCBICHM1_1
CRA_TCAGchr7v27107,577,403 - 107,582,508 (+)NCBI
Dnajb9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391244,252,680 - 44,256,851 (-)NCBIGRCm39mm39
GRCm39 Ensembl1244,252,342 - 44,257,109 (-)Ensembl
GRCm381244,205,897 - 44,210,068 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1244,205,559 - 44,210,326 (-)EnsemblGRCm38mm10GRCm38
MGSCv371245,306,884 - 45,311,055 (-)NCBIGRCm37mm9NCBIm37
MGSCv361245,076,183 - 45,080,354 (-)NCBImm8
Celera1245,576,005 - 45,580,176 (-)NCBICelera
Cytogenetic Map12B2NCBI
Dnajb9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2661,270,385 - 61,276,795 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl661,269,913 - 61,275,063 (-)Ensembl
Rnor_6.0664,165,913 - 64,170,122 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl664,165,913 - 64,170,151 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0673,754,560 - 73,770,497 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4663,583,033 - 63,587,247 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1663,586,159 - 63,590,373 (-)NCBI
Celera660,267,249 - 60,271,433 (-)NCBICelera
Cytogenetic Map6q21NCBI
Dnajb9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541012,814,479 - 12,822,777 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541012,814,993 - 12,820,852 (+)NCBIChiLan1.0ChiLan1.0
DNAJB9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17113,273,844 - 113,279,105 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7113,274,015 - 113,279,105 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v07100,555,527 - 100,560,052 (+)NCBIMhudiblu_PPA_v0panPan3
DNAJB9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11448,879,963 - 48,885,616 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1448,879,914 - 48,884,361 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1448,323,737 - 48,329,124 (+)NCBI
ROS_Cfam_1.01448,829,357 - 48,834,752 (+)NCBI
UMICH_Zoey_3.11448,926,451 - 48,931,836 (+)NCBI
UNSW_CanFamBas_1.01448,610,313 - 48,615,689 (+)NCBI
UU_Cfam_GSD_1.01448,983,891 - 48,989,289 (+)NCBI
Dnajb9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511868,402,977 - 68,407,460 (+)NCBI
SpeTri2.0NW_0049366531,554,534 - 1,558,832 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNAJB9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1836,549,544 - 36,584,130 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11836,578,928 - 36,584,211 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21840,219,853 - 40,224,716 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DNAJB9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12177,477,177 - 77,482,190 (+)NCBI
ChlSab1.1 Ensembl2177,479,112 - 77,482,571 (+)Ensembl
Vero_WHO_p1.0NW_02366604226,381,126 - 26,386,050 (-)NCBI
Dnajb9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473921,187,581 - 21,193,345 (-)NCBI

Position Markers
D7S2648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377108,214,627 - 108,214,751UniSTSGRCh37
Build 367108,001,863 - 108,001,987RGDNCBI36
Celera7103,027,998 - 103,028,122RGD
Cytogenetic Map7q31UniSTS
Cytogenetic Map14q24.2-q24.3UniSTS
HuRef7102,582,844 - 102,582,968UniSTS
CRA_TCAGchr7v27107,581,841 - 107,581,965UniSTS
GeneMap99-GB4 RH Map7537.91UniSTS
Whitehead-RH Map7495.8UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map71105.0UniSTS
RH102951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377108,214,954 - 108,215,125UniSTSGRCh37
Build 367108,002,190 - 108,002,361RGDNCBI36
Celera7103,028,325 - 103,028,496RGD
Cytogenetic Map7q31UniSTS
Cytogenetic Map14q24.2-q24.3UniSTS
HuRef7102,583,171 - 102,583,342UniSTS
CRA_TCAGchr7v27107,582,168 - 107,582,339UniSTS
GeneMap99-GB4 RH Map7526.54UniSTS
RH69836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377108,213,954 - 108,214,078UniSTSGRCh37
Build 367108,001,190 - 108,001,314RGDNCBI36
Celera7103,027,325 - 103,027,449RGD
Cytogenetic Map7q31UniSTS
Cytogenetic Map14q24.2-q24.3UniSTS
HuRef7102,582,171 - 102,582,295UniSTS
CRA_TCAGchr7v27107,581,168 - 107,581,292UniSTS
GeneMap99-GB4 RH Map7531.8UniSTS
DNAJB9_4015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377108,214,550 - 108,215,409UniSTSGRCh37
Build 367108,001,786 - 108,002,645RGDNCBI36
Celera7103,027,921 - 103,028,780RGD
HuRef7102,582,767 - 102,583,626UniSTS
CRA_TCAGchr7v27107,581,764 - 107,582,623UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:578
Count of miRNA genes:418
Interacting mature miRNAs:453
Transcripts:ENST00000249356, ENST00000465725, ENST00000491582
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2353 2366 1719 620 1420 462 4160 2030 3303 397 1434 1599 173 1 1198 2671 6 2
Low 86 624 7 4 530 3 197 167 431 22 26 14 1 6 117
Below cutoff 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000249356   ⟹   ENSP00000249356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7108,569,874 - 108,574,850 (+)Ensembl
RefSeq Acc Id: ENST00000465725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7108,571,715 - 108,574,760 (+)Ensembl
RefSeq Acc Id: ENST00000491582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7108,569,867 - 108,572,063 (+)Ensembl
RefSeq Acc Id: NM_012328   ⟹   NP_036460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387108,569,874 - 108,574,850 (+)NCBI
GRCh377108,210,189 - 108,215,294 (+)ENTREZGENE
Build 367107,997,592 - 108,002,530 (+)NCBI Archive
HuRef7102,578,406 - 102,583,511 (+)ENTREZGENE
CHM1_17108,143,475 - 108,148,580 (+)NCBI
CRA_TCAGchr7v27107,577,403 - 107,582,508 (+)ENTREZGENE
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036460   ⟸   NM_012328
- Peptide Label: precursor
- UniProtKB: Q9UBS3 (UniProtKB/Swiss-Prot),   Q6FIF1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000249356   ⟸   ENST00000249356
Protein Domains
J

Promoters
RGD ID:6805463
Promoter ID:HG_KWN:59275
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
Transcripts:OTTHUMT00000337414,   OTTHUMT00000337416,   OTTHUMT00000337418
Position:
Human AssemblyChrPosition (strand)Source
Build 367107,997,211 - 107,997,711 (+)MPROMDB
RGD ID:7211669
Promoter ID:EPDNEW_H11579
Type:initiation region
Name:DNAJB9_1
Description:DnaJ heat shock protein family member B9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387108,569,874 - 108,569,934EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1 copy number loss See cases [RCV000050924] Chr7:101807149..112414850 [GRCh38]
Chr7:101450429..112054905 [GRCh37]
Chr7:101237149..111842141 [NCBI36]
Chr7:7q22.1-31.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1 copy number loss See cases [RCV000054158] Chr7:106261939..111228036 [GRCh38]
Chr7:105902385..110868092 [GRCh37]
Chr7:105689621..110655328 [NCBI36]
Chr7:7q22.3-31.1
pathogenic
NM_012328.2(DNAJB9):c.479C>T (p.Ser160Phe) single nucleotide variant Malignant melanoma [RCV000067580] Chr7:108573160 [GRCh38]
Chr7:108213604 [GRCh37]
Chr7:108000840 [NCBI36]
Chr7:7q31.1
not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1 copy number loss See cases [RCV000137522] Chr7:102196924..121278641 [GRCh38]
Chr7:101912320..120918695 [GRCh37]
Chr7:101626924..120705931 [NCBI36]
Chr7:7q22.1-31.31
pathogenic
GRCh38/hg38 7q31.1(chr7:108559438-109009742)x1 copy number loss See cases [RCV000137439] Chr7:108559438..109009742 [GRCh38]
Chr7:108199882..108649799 [GRCh37]
Chr7:107987118..108437035 [NCBI36]
Chr7:7q31.1
likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q31.1(chr7:108154329-108464788)x3 copy number gain not provided [RCV000746963] Chr7:108154329..108464788 [GRCh37]
Chr7:7q31.1
benign
GRCh37/hg19 7q31.1(chr7:107441501-108433812)x1 copy number loss not provided [RCV001005992] Chr7:107441501..108433812 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_012328.3(DNAJB9):c.407G>A (p.Arg136His) single nucleotide variant not provided [RCV000961811] Chr7:108573088 [GRCh38]
Chr7:108213532 [GRCh37]
Chr7:7q31.1
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q31.1(chr7:107786826-112356275)x1 copy number loss not provided [RCV000847183] Chr7:107786826..112356275 [GRCh37]
Chr7:7q31.1
uncertain significance
GRCh37/hg19 7q31.1(chr7:108094786-108494963)x3 copy number gain not provided [RCV001005993] Chr7:108094786..108494963 [GRCh37]
Chr7:7q31.1
likely benign
GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1 copy number loss not provided [RCV001005991] Chr7:106617406..123217914 [GRCh37]
Chr7:7q22.3-31.32
pathogenic
GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1 copy number loss not provided [RCV000846765] Chr7:107410314..117825549 [GRCh37]
Chr7:7q31.1-31.31
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6968 AgrOrtholog
COSMIC DNAJB9 COSMIC
Ensembl Genes ENSG00000128590 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000249356 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000249356 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000128590 GTEx
HGNC ID HGNC:6968 ENTREZGENE
Human Proteome Map DNAJB9 Human Proteome Map
InterPro DnaJ_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DnaJ_domain_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  J_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4189 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4189 ENTREZGENE
OMIM 602634 OMIM
Pfam DnaJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27419 PharmGKB
PRINTS JDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DNAJ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNAJ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DnaJ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46565 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt DNJB9_HUMAN UniProtKB/Swiss-Prot
  Q6FIF1 ENTREZGENE, UniProtKB/TrEMBL
  Q9UBS3 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 DNAJB9  DnaJ heat shock protein family (Hsp40) member B9    DnaJ (Hsp40) homolog, subfamily B, member 9  Symbol and/or name change 5135510 APPROVED