DNAJB7

gene
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Also known as HSC3

Summary

DNAJB7 (DnaJ heat shock protein family (Hsp40) member B7, HGNC:24986) is a protein-coding gene on chromosome 22q13.2, encoding DnaJ homolog subfamily B member 7 (Q7Z6W7). Probably acts as a co-chaperone.

The protein encoded by this intronless gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain.

Source: NCBI Gene 150353 — RefSeq curated summary.

At a glance

  • GWAS associations: 4
  • Clinical variants (ClinVar): 76 total — 3 pathogenic
  • MANE Select transcript: NM_145174

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24986
Approved symbolDNAJB7
NameDnaJ heat shock protein family (Hsp40) member B7
Location22q13.2
Locus typegene with protein product
StatusApproved
AliasesHSC3
Ensembl geneENSG00000172404
Ensembl biotypeprotein_coding
OMIM611336
Entrez150353

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000307221

RefSeq mRNA: 1 — MANE Select: NM_145174 NM_145174

CCDS: CCDS14008

Canonical transcript exons

ENST00000307221 — 1 exons

ExonStartEnd
ENSE000012678004085954940862113

Expression profiles

Bgee: expression breadth ubiquitous, 127 present calls, max score 85.64.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0255 / max 21.6521, expressed in 4 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
1943340.02554

Top tissues by expression

217 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047385.64gold quality
right testisUBERON:000453478.05gold quality
left testisUBERON:000453377.20gold quality
testisUBERON:000047374.27gold quality
cortical plateUBERON:000534367.00gold quality
ganglionic eminenceUBERON:000402362.35gold quality
buccal mucosa cellCL:000233660.03silver quality
jejunal mucosaUBERON:000039958.60silver quality
hindlimb stylopod muscleUBERON:000425255.87gold quality
cerebellar cortexUBERON:000212955.23gold quality
cerebellar hemisphereUBERON:000224555.15gold quality
ventricular zoneUBERON:000305354.77silver quality
corpus epididymisUBERON:000435954.77silver quality
bone marrow cellCL:000209254.71gold quality
mucosa of transverse colonUBERON:000499154.53gold quality
right hemisphere of cerebellumUBERON:001489054.44gold quality
caput epididymisUBERON:000435854.17silver quality
gastrocnemiusUBERON:000138854.13gold quality
muscle of legUBERON:000138354.04gold quality
cerebellumUBERON:000203754.04gold quality
duodenumUBERON:000211453.81gold quality
cerebellar vermisUBERON:000472052.48gold quality
colonic epitheliumUBERON:000039751.24gold quality
prefrontal cortexUBERON:000045150.76gold quality
jejunumUBERON:000211550.26silver quality
right ovaryUBERON:000211849.48gold quality
right uterine tubeUBERON:000130249.44gold quality
cauda epididymisUBERON:000436048.88gold quality
right lobe of thyroid glandUBERON:000111948.54gold quality
left ovaryUBERON:000211948.11gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-CURD-10no10.06
E-ANND-3no2.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

69 targeting DNAJB7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-8485100.0077.574731
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-150-5P99.9966.691976
HSA-MIR-428299.9975.366408
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-477599.9875.006394
HSA-MIR-512-3P99.9767.351049
HSA-MIR-590-3P99.9674.346478
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-1236-3P99.9468.041695
HSA-MIR-548J-3P99.9472.614881
HSA-MIR-335-3P99.9373.364958
HSA-MIR-548AH-3P99.9372.544872
HSA-MIR-548AM-3P99.9372.544872
HSA-MIR-548AE-3P99.9372.664867
HSA-MIR-548AQ-3P99.9372.664867
HSA-MIR-367199.9073.043897
HSA-MIR-568299.8972.561005
HSA-MIR-629-3P99.8567.991875
HSA-MIR-576-5P99.8470.462582
HSA-MIR-5010-3P99.8370.602357
HSA-MIR-548AZ-5P99.8369.943230
HSA-MIR-548T-5P99.8369.913220
HSA-MIR-4713-5P99.7867.801794
HSA-MIR-128399.6972.423009

Cross-species orthologs

16 orthologs

OrganismSymbolGene ID
danio_reriodnajb6bENSDARG00000020953
danio_reriodnajb1bENSDARG00000041394
danio_reriodnajc18ENSDARG00000056005
danio_reriodnajb1aENSDARG00000099383
mus_musculusDnajb7ENSMUSG00000047108
rattus_norvegicusDnajb7ENSRNOG00000019187
drosophila_melanogasterCG2887FBGN0030207
drosophila_melanogasterCG5001FBGN0031322
drosophila_melanogastermrjFBGN0034091
drosophila_melanogasterCG3061FBGN0038195
drosophila_melanogasterCG30156FBGN0050156
drosophila_melanogasterDnaJ-1FBGN0263106
caenorhabditis_elegansWBGENE00001019
caenorhabditis_elegansWBGENE00001031
caenorhabditis_elegansWBGENE00001042
caenorhabditis_elegansWBGENE00001044

Paralogs (11): DNAJB11 (ENSG00000090520), DNAJB6 (ENSG00000105993), DNAJB9 (ENSG00000128590), DNAJB1 (ENSG00000132002), DNAJB2 (ENSG00000135924), DNAJB5 (ENSG00000137094), DNAJB12 (ENSG00000148719), DNAJB4 (ENSG00000162616), DNAJB14 (ENSG00000164031), DNAJB8 (ENSG00000179407), DNAJB13 (ENSG00000187726)

Protein

Protein identifiers

DnaJ homolog subfamily B member 7Q7Z6W7 (reviewed: Q7Z6W7)

All UniProt accessions (1): Q7Z6W7

UniProt curated annotations — full annotation on UniProt →

Function. Probably acts as a co-chaperone.

RefSeq proteins (1): NP_660157* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001623DnaJ_domainDomain
IPR018253DnaJ_domain_CSConserved_site
IPR036869J_dom_sfHomologous_superfamily
IPR043183DNJB2/6-likeFamily

Pfam: PF00226

UniProt features (5 total): chain 1, domain 1, region of interest 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q7Z6W7-F159.380.08

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 40 (showing top): FOXD3_01, NKX62_Q2, GOBP_PROTEIN_MATURATION, GOBP_PROTEIN_FOLDING, AGCATTA_MIR155, TGGAAA_NFAT_Q4_01, chr22q13, GOMF_HEAT_SHOCK_PROTEIN_BINDING, GOMF_UNFOLDED_PROTEIN_BINDING, GOMF_PROTEIN_FOLDING_CHAPERONE_BINDING, GOMF_HSP70_PROTEIN_BINDING, ZWANG_DOWN_BY_2ND_EGF_PULSE, GOMF_PROTEIN_FOLDING_CHAPERONE, ZNF85_TARGET_GENES, MIR1283

GO Biological Process (2): protein folding (GO:0006457), obsolete chaperone-mediated protein folding (GO:0061077)

GO Molecular Function (4): Hsp70 protein binding (GO:0030544), protein folding chaperone (GO:0044183), obsolete unfolded protein binding (GO:0051082), protein-folding chaperone binding (GO:0051087)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular process1
protein maturation1
heat shock protein binding1
protein-folding chaperone binding1
molecular_function1
protein folding1
protein binding1
intracellular membrane-bounded organelle1
intracellular anatomical structure1
cellular anatomical structure1

Protein interactions and networks

STRING

2144 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DNAJB7TECRQ9NZ01882
DNAJB7CA9Q16790761
DNAJB7MAU2Q9Y6X3716
DNAJB7ONECUT3O60422542
DNAJB7FN1P02751535
DNAJB7CASP3P42574474
DNAJB7ANXA5P08758452
DNAJB7HMOX1P09601445
DNAJB7GAPDHP00354437
DNAJB7TBCCD1Q9NVR7433
DNAJB7MTRNR2L6P0CJ73420
DNAJB7CDH1P12830418
DNAJB7GFOD2Q3B7J2409
DNAJB7EGFRP00533406
DNAJB7AKT1P31749403

IntAct

3 interactions, top by confidence:

ABTypeScore
DNAJB7SRPK2psi-mi:“MI:0217”(phosphorylation reaction)0.440
DNAJB7PPP2R5Dpsi-mi:“MI:0914”(association)0.350

BioGRID (36): DNAJB7 (Affinity Capture-Western), DNAJB7 (Affinity Capture-Western), DNAJB7 (Reconstituted Complex), DNAJB7 (Affinity Capture-MS), FKBP8 (Affinity Capture-MS), DNAJB1 (Affinity Capture-MS), HNRNPM (Affinity Capture-MS), RPL26 (Affinity Capture-MS), RPL4 (Affinity Capture-MS), RPL18 (Affinity Capture-MS), RPLP0 (Affinity Capture-MS), DNAJC7 (Affinity Capture-MS), GRPEL1 (Affinity Capture-MS), BAG2 (Affinity Capture-MS), CMAS (Affinity Capture-MS)

ESM2 similar proteins: C0HK94, C0HK95, E9PV24, J7M3T1, J7M799, M9MRD1, O13858, O54946, O75190, P02671, P02672, P0CU45, P0CU46, P0CU47, P0CU48, P0CU50, P14448, P20240, P30933, P36228, P46335, P78890, P87346, Q04757, Q09231, Q24546, Q4WUL0, Q4X212, Q55FC2, Q55FC3, Q55FC4, Q55FC5, Q5F3Z5, Q5R8H0, Q6AYU3, Q6CVS3, Q6FJC7, Q6FX33, Q7Z6W7, Q90501

Diamond homologs: A0A0D1E2P6, A0A0P0VG31, A1BHL1, A1V9Q3, A3MA88, A4SFR5, A5EYE5, A5IIT4, A5ITA7, A6LJ63, A6QHC2, A6U251, A7X2Y0, A8EXP6, A8GMF8, A8GV67, A9IGC5, B0B7R0, B0BBX5, B0TYF3, B0VA24, B0VQ00, B1LCI2, B1YKT0, B2I2G6, B3CP03, B3EE31, B3QPW8, B4S9D0, B7GV08, B7I2B2, B7IFE0, B8DQW8, B9E6X0, B9KAB9, C4L424, O35723, O54946, O75190, O84345

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

76 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic3
Likely pathogenic0
Uncertain significance63
Likely benign4
Benign2

Top pathogenic / likely-pathogenic (3)

Variant IDHGVSClassification
2424165NC_000022.10:g.(?41074407)(41489122_?)delPathogenic
3062459GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1Pathogenic
57634GRCh38/hg38 22q13.2(chr22:40832364-41076954)x1Pathogenic

SpliceAI

156 predictions. Top by Δscore:

VariantEffectΔscore
22:40861732:AAGCC:Adonor_gain0.9800
22:40861726:A:Tdonor_gain0.9700
22:40861734:GCC:Gdonor_gain0.9000
22:40861774:TTTA:Tdonor_gain0.8700
22:40861725:G:GTdonor_gain0.8500
22:40861847:C:Gdonor_gain0.8000
22:40861730:TG:Tdonor_gain0.7900
22:40861666:TGAA:Tdonor_gain0.7600
22:40861836:G:GGdonor_gain0.7200
22:40861617:GGA:Gacceptor_gain0.7100
22:40861777:A:ATdonor_gain0.7100
22:40861731:GAAGC:Gdonor_gain0.7000
22:40861612:CCATA:Cacceptor_loss0.6600
22:40861613:CATAG:Cacceptor_loss0.6600
22:40861615:TA:Tacceptor_loss0.6600
22:40861617:G:GCacceptor_loss0.6600
22:40861728:T:Gdonor_gain0.6600
22:40861642:TCCTC:Tdonor_gain0.6500
22:40861616:A:AGacceptor_gain0.6300
22:40861617:G:GGacceptor_gain0.6300
22:40861731:G:GTdonor_gain0.6300
22:40861835:C:CGdonor_gain0.6300
22:40861679:G:GTdonor_gain0.6100
22:40861601:T:TAacceptor_loss0.6000
22:40861608:GTTTC:Gacceptor_loss0.5600
22:40861618:G:Tacceptor_loss0.5600
22:40861760:G:GTdonor_gain0.5600
22:40861736:C:CGdonor_gain0.5500
22:40861737:G:GGdonor_gain0.5500
22:40861657:T:Gacceptor_gain0.5400

AlphaMissense

2066 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
22:40861857:G:CF46L0.968
22:40861857:G:TF46L0.968
22:40861859:A:GF46L0.968
22:40861828:A:GL56S0.950
22:40861841:C:GA52P0.931
22:40861902:G:CH31Q0.923
22:40861902:G:TH31Q0.923
22:40861858:A:GF46S0.905
22:40861915:G:TA27E0.905
22:40861810:C:GR62P0.904
22:40861840:G:TA52E0.903
22:40861907:A:GW30R0.901
22:40861907:A:TW30R0.901
22:40861871:C:GA42P0.898
22:40861893:T:AK34N0.889
22:40861893:T:GK34N0.889
22:40861847:C:GA50P0.880
22:40861904:G:CH31D0.880
22:40861935:T:AK20N0.877
22:40861935:T:GK20N0.877
22:40861854:T:AK47N0.876
22:40861854:T:GK47N0.876
22:40861931:C:GA22P0.876
22:40861928:A:CY23D0.855
22:40861731:G:CF88L0.845
22:40861731:G:TF88L0.845
22:40861733:A:GF88L0.845
22:40861912:A:GL28P0.844
22:40861704:A:CF97L0.838
22:40861704:A:TF97L0.838

dbSNP variants (sampled 300 via entrez): RS1002902048 (22:40862696 T>A,C,G), RS1003247107 (22:40861521 T>A,C), RS1004093756 (22:40863122 T>C), RS1004936576 (22:40860688 T>C), RS1005250864 (22:40861995 G>GT), RS1005595042 (22:40864000 A>G), RS1006105238 (22:40860717 A>C,G,T), RS1006184349 (22:40861766 C>A,T), RS1006349553 (22:40862205 G>A,T), RS1007262838 (22:40859871 T>G), RS1007344841 (22:40860935 A>G,T), RS1007762186 (22:40863025 A>C,G), RS1008124783 (22:40863390 T>A,G), RS1009776151 (22:40859969 G>T), RS1010000073 (22:40864015 C>G,T)

Disease associations

OMIM: gene MIM:611336 | disease phenotypes: MIM:613684

GenCC curated gene-disease

Mondo (2): kidney disorder (MONDO:0005240), Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (MONDO:0013364)

Orphanet (2): Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (Orphanet:353284), Rubinstein-Taybi syndrome (Orphanet:783)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

StudyTraitp-value
GCST004521_42Autism spectrum disorder or schizophrenia1.000000e-08
GCST004521_55Autism spectrum disorder or schizophrenia9.000000e-09
GCST008103_42Bipolar disorder2.000000e-07
GCST008115_35Bipolar I disorder3.000000e-07

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0009963bipolar I disorder

MeSH disease descriptors (1)

DescriptorNameTree numbers
D007674Kidney DiseasesC12.050.351.968.419; C12.200.777.419; C12.950.419

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

ChemicalActions (top 5)PubMed papers
perfluorooctanoic acidincreases expression1
coumarinincreases phosphorylation1
CGP 52608affects binding, increases reaction1
perfluoro-n-nonanoic acidincreases expression1
Sunitinibincreases expression1
Amiodaroneincreases expression1
8-Bromo Cyclic Adenosine Monophosphateincreases expression1
tert-Butylhydroperoxidedecreases methylation1

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00067990PHASE4COMPLETEDAngiotensin II Blockade for Chronic Allograft Nephropathy
NCT00117078PHASE4COMPLETEDAranesp® Monthly Preference Study - 2
NCT00117130PHASE4COMPLETEDStudy to Evaluate Effectiveness of Aranesp®
NCT00132431PHASE4COMPLETEDSTART: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism
NCT00140985PHASE4COMPLETEDAntiproteinuric Efficacy of Losartan Potassium in Patients With Non-Diabetic Proteinuric Renal Diseases (0954-213)
NCT00246129PHASE4COMPLETEDCamTac Trial:Campath-Tacrolimus vs IL2R MoAb/Tacrolimus/MMF in Renal Transplantation
NCT00275535PHASE4COMPLETEDThe Comparison of Tacrolimus and Sirolimus Immunosuppression Based Drug Regimens in Kidney Transplant Recipients
NCT00282217PHASE4COMPLETEDStudy Evaluating Sirolimus in the Treatment of Kidney Transplant
NCT00289614PHASE4COMPLETEDPatients With Renal Impairment and Diabetes Undergoing Computed Tomography (CT)
NCT00290069PHASE4UNKNOWNRenal Function Optimization With Mycophenolate Mofetil (MMF) Immunosuppressor Regimes (ALHAMBRA)
NCT00338468PHASE4TERMINATEDA Study to Assess Disability in Anemic Elderly Patients With Kidney Disease Receiving PROCRIT (Epoetin Alfa)
NCT00368901PHASE4COMPLETEDSTAAR-2 Clinical Study
NCT00369733PHASE4COMPLETEDSTAAR-3 Clinical Study
NCT00369772PHASE4COMPLETEDSTAAR-1 Clinical Study
NCT00379899PHASE4COMPLETEDADVANCE: Study to Evaluate Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease Receiving Hemodialysis
NCT00443508PHASE4UNKNOWNReduction or Discontinuation of CNI’s With Conversion to Everolimus-Based Immunosuppresion
NCT00452478PHASE4TERMINATEDConversion From Standard Phosphate Binder Therapy to Fosrenol® (Lanthanum Carbonate) in Chronic Kidney Disease Stage 5
NCT00492518PHASE4COMPLETEDAcetylcysteine, Theophylline, and a Combination of Both in the Prophylaxis of Contrast-Induced Nephropathy
NCT00505102PHASE4UNKNOWNSafe Renal Function In Long Term Heart Transplanted Patients
NCT00526331PHASE4COMPLETEDEvaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00688480PHASE4COMPLETEDDo Xanthine Oxidase Inhibitors Reduce Both Left Ventricular Hypertrophy and Endothelial Dysfunction in Cardiovascular Patients With Renal Dysfunction?
NCT00863707PHASE4COMPLETEDA Study of the Safety and Tolerance of Regadenoson in Subjects With Renal Impairment
NCT01101698PHASE4UNKNOWNVitamin K2 and Vessel Calcification in Chronic Kidney Disease Patients
NCT01150201PHASE4COMPLETEDAliskiren Combined With Losartan in Proteinuric, Non-diabetic Chronic Kidney Disease
NCT01155141PHASE4COMPLETEDIdiopathic Focal Segmental Glomerulosclerosis (FSGS) and Treatment With ACTH
NCT01228279PHASE4COMPLETEDSympathetic Activity in Patients With End-stage Renal Disease on Peritoneal Dialysis
NCT01334333PHASE4COMPLETEDComparison of Medication Adherence Between Once and Twice Daily Tacrolimus in Stable Renal Transplant Recipients
NCT01437943PHASE4TERMINATEDEffect of Short Term Aliskiren Treatment in Kidney Transplant Patients
NCT01545479PHASE4COMPLETEDIncreased Renal Oxygenation and Angiotensin Converting Enzyme Inhibition
NCT01614431PHASE4COMPLETEDN Acetyl Cysteine for Cystinosis Patients
NCT01631149PHASE4COMPLETEDEffect of Deep BLock on Intraoperative Surgical Conditions
NCT01722513PHASE4UNKNOWNEfficacy and Safety of Alprostadil Prevent Contrast Induced Nephropathy
NCT01985360PHASE4COMPLETEDISCHEMIA-Chronic Kidney Disease Trial
NCT02311010PHASE4UNKNOWNPractical Use of Advagraf de Novo After Kidney Transplantation According to Recipient Genetic Polymorphism
NCT02413073PHASE4COMPLETEDWhole Body Vibration in Kidney Disease
NCT02444013PHASE4UNKNOWNFolic Acid for Prevention of Contrast Induced Nephropathy
NCT02663713PHASE4COMPLETEDA Randomized, Pharmacodynamic Comparison of Low Dose Ticagrelor to Clopidogrel in Patients With Prior Myocardial Infarction
NCT02707809PHASE4COMPLETEDEffects of Dexmedetomidine on Microcirculation of Kidney Transplant Recipient
NCT02761577PHASE4COMPLETEDA Prospective Study on Incidence and Prevention of Contrast-induced Nephropathy in Croatia
NCT03029351PHASE4TERMINATEDGLP-1 Receptor Agonist Therapy and Albuminuria in Patients With Type 2 Diabetes