DNAJC5B

Summary

DNAJC5B (DnaJ heat shock protein family (Hsp40) member C5 beta, HGNC:24138) is a protein-coding gene on chromosome 8q13.1, encoding DnaJ homolog subfamily C member 5B (Q9UF47).

This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins that is characterized by an N-terminal DNAJ domain, a linker region, and a cysteine-rich C-terminal domain. The encoded protein, together with heat shock protein 70, is thought to regulate the proper folding of other proteins. The orthologous mouse protein is membrane-associated and is targeted to the trans-golgi network.

Source: NCBI Gene 85479 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 20 total
• MANE Select transcript: NM_033105

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24138
Approved symbol	DNAJC5B
Name	DnaJ heat shock protein family (Hsp40) member C5 beta
Location	8q13.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC26226, CSP-beta
Ensembl gene	ENSG00000147570
Ensembl biotype	protein_coding
OMIM	613945
Entrez	85479

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000276570, ENST00000519330, ENST00000522619, ENST00000524076, ENST00000936444

RefSeq mRNA: 2 — MANE Select: NM_033105 NM_001349432, NM_033105

CCDS: CCDS6183

Canonical transcript exons

ENST00000276570 — 6 exons

Exon	Start	End
ENSE00000980687	66099937	66101245
ENSE00001365298	66043488	66043611
ENSE00003494092	66076660	66076873
ENSE00003514932	66051531	66051666
ENSE00003531144	66080377	66080548
ENSE00003890671	66021553	66021705

Expression profiles

Bgee: expression breadth ubiquitous, 138 present calls, max score 96.92.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1778 / max 110.5663, expressed in 9 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
89159	0.0914	3
89162	0.0610	4
89160	0.0110	3
89163	0.0088	2
89161	0.0057	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	96.92	gold quality
left testis	UBERON:0004533	95.36	gold quality
right testis	UBERON:0004534	94.41	gold quality
testis	UBERON:0000473	91.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.72	gold quality
pancreatic ductal cell	CL:0002079	72.72	silver quality
lymph node	UBERON:0000029	72.69	gold quality
adult organism	UBERON:0007023	71.72	gold quality
monocyte	CL:0000576	71.15	gold quality
ileal mucosa	UBERON:0000331	70.22	silver quality
leukocyte	CL:0000738	70.01	gold quality
vermiform appendix	UBERON:0001154	68.83	gold quality
kidney epithelium	UBERON:0004819	68.71	gold quality
right lung	UBERON:0002167	68.65	gold quality
cardiac muscle of right atrium	UBERON:0003379	67.78	gold quality
left ventricle myocardium	UBERON:0006566	67.48	gold quality
caecum	UBERON:0001153	67.35	gold quality
upper arm skin	UBERON:0004263	67.27	gold quality
epithelial cell of pancreas	CL:0000083	67.13	gold quality
tibialis anterior	UBERON:0001385	67.11	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	65.89	gold quality
deltoid	UBERON:0001476	65.87	gold quality
nasal cavity epithelium	UBERON:0005384	64.84	gold quality
superficial temporal artery	UBERON:0001614	64.18	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	62.93	gold quality
vena cava	UBERON:0004087	62.86	gold quality
myocardium	UBERON:0002349	62.78	gold quality
buccal mucosa cell	CL:0002336	62.17	silver quality
subthalamic nucleus	UBERON:0001906	62.12	gold quality
mucosa of paranasal sinus	UBERON:0005030	61.69	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	30.99
E-ANND-3	no	5.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting DNAJC5B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-148A-5P	99.30	68.27	1141
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-4742-5P	98.89	68.41	1542
HSA-MIR-4724-5P	98.87	67.75	1324
HSA-MIR-3908	98.75	67.31	1160
HSA-MIR-4703-5P	98.53	70.13	1645
HSA-MIR-3942-5P	98.52	69.51	1517
HSA-MIR-4766-3P	98.48	67.94	1347
HSA-MIR-4536-5P	98.47	64.39	657
HSA-MIR-4769-3P	97.95	68.17	1002
HSA-MIR-6817-5P	97.95	67.86	1026
HSA-MIR-500B-3P	96.49	65.40	1087
HSA-MIR-1258	96.08	67.74	700
HSA-MIR-4462	95.10	66.27	172

Literature-anchored findings (GeneRIF, showing 2)

• These results suggest a possible correlation between the specific membrane targeting and the palmitoylation level of CSPs. (PMID:17034881)
• suggest that HSPB8 may act as an intracellular factor against hepatitis C virus replication and that DNAJC5B has the same function, with more relevant results for genotype 3 (PMID:29182667)

Cross-species orthologs

14 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnajc5b	ENSDARG00000058147
mus_musculus	Dnajc5b	ENSMUSG00000027606
rattus_norvegicus	Dnajc5b	ENSRNOG00000012851
drosophila_melanogaster	Csp	FBGN0004179
drosophila_melanogaster	CG10565	FBGN0037051
drosophila_melanogaster	P58IPK	FBGN0037718
drosophila_melanogaster	l(3)80Fg	FBGN0287183
caenorhabditis_elegans		WBGENE00001020
caenorhabditis_elegans		WBGENE00001025
caenorhabditis_elegans		WBGENE00001026
caenorhabditis_elegans		WBGENE00001029
caenorhabditis_elegans		WBGENE00001032
caenorhabditis_elegans	dnj-28	WBGENE00001046
caenorhabditis_elegans		WBGENE00008122

Paralogs (20): DNAJC11 (ENSG00000007923), DNAJC25 (ENSG00000059769), DNAJC10 (ENSG00000077232), DNAJC5 (ENSG00000101152), DNAJC3 (ENSG00000102580), DNAJC17 (ENSG00000104129), DNAJC2 (ENSG00000105821), DNAJC12 (ENSG00000108176), DNAJC4 (ENSG00000110011), DNAJC16 (ENSG00000116138), DNAJC14 (ENSG00000135392), DNAJC1 (ENSG00000136770), DNAJC13 (ENSG00000138246), DNAJC5G (ENSG00000163793), DNAJC7 (ENSG00000168259), DNAJC21 (ENSG00000168724), DNAJC18 (ENSG00000170464), DNAJC24 (ENSG00000170946), DNAJC30 (ENSG00000176410), DNAJC9 (ENSG00000213551)

Protein

Protein identifiers

DnaJ homolog subfamily C member 5B — Q9UF47 (reviewed: Q9UF47)

Alternative names: Cysteine-string protein isoform beta

All UniProt accessions (3): Q9UF47, A0A024R7Z1, E5RGF4

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with the chaperone complex consisting of HSC70 and SGTA.

Subcellular location. Membrane.

Tissue specificity. Testis specific.

Post-translational modifications. Palmitoylated. Palmitoylation is not required for membrane association.

RefSeq proteins (2): NP_001336361, NP_149096* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001623	DnaJ_domain	Domain
IPR018253	DnaJ_domain_CS	Conserved_site
IPR036869	J_dom_sf	Homologous_superfamily
IPR051434	DnaJ_C_subfamily_member5	Family

Pfam: PF00226

UniProt features (4 total): chain 1, domain 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UF47-F1	74.07	0.23

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 14

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 58 (showing top): MODULE_97, NKX25_02, MODULE_182, CHX10_01, YGACNNYACAR_UNKNOWN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, BACH2_01, TGANTCA_AP1_C, TGACATY_UNKNOWN, HFH1_01, EVI1_04, chr8q13, CDC5_01, MODULE_358, RP58_01

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2035 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAJC5B	HSPB7	Q9UBY9	513
DNAJC5B	HSPA12B	Q96MM6	470
DNAJC5B	GAK	O14976	450
DNAJC5B	SPACA7	Q96KW9	435
DNAJC5B	DNAJC2	Q99543	433
DNAJC5B	DNAJC6	O75061	413
DNAJC5B	CIMAP1D	Q3SX64	403
DNAJC5B	KLHL26	Q53HC5	403
DNAJC5B	KNCN	A6PVL3	399
DNAJC5B	C16orf90	A8MZG2	398
DNAJC5B	WFDC11	Q8NEX6	398
DNAJC5B	HSPB9	Q9BQS6	391
DNAJC5B	DNAJC21	Q5F1R6	383
DNAJC5B	OBI1	Q5W0B1	381
DNAJC5B	HSPA4L	O95757	378

IntAct

6 interactions, top by confidence:

A	B	Type	Score
DNAJC5B	TFCP2	psi-mi:“MI:0915”(physical association)	0.560
DNAJC5B	TNFRSF6B	psi-mi:“MI:0914”(association)	0.350
GPC3	PXDNL	psi-mi:“MI:0914”(association)	0.350

BioGRID (84): DNAJC5B (Two-hybrid), SCAMP2 (Affinity Capture-MS), BOLA2 (Affinity Capture-MS), STUB1 (Affinity Capture-MS), STIP1 (Affinity Capture-MS), HSPA1A (Affinity Capture-MS), HSPA1L (Affinity Capture-MS), HSPA2 (Affinity Capture-MS), HSPA4 (Affinity Capture-MS), DNAJB1 (Affinity Capture-MS), ST13 (Affinity Capture-MS), DNAJC7 (Affinity Capture-MS), BAG5 (Affinity Capture-MS), BAG2 (Affinity Capture-MS), NUCB1 (Affinity Capture-MS)

ESM2 similar proteins: A5HBD7, A6QR20, A8Y985, B1WBT0, C9JQI7, D3ZSP7, F5H4B4, O88196, P03079, P03080, P03081, P03082, P03083, P04009, P0C567, P0DOI8, P0DOI9, P0DOJ0, P13895, P15000, P24598, P24852, P40587, P53804, P62932, P68834, P68835, Q06190, Q0V9U8, Q13129, Q3E8K6, Q3L6L4, Q4R3V2, Q4R7D5, Q5PQN2, Q6AXP3, Q7TPV2, Q86Y13, Q8C636, Q8CE72

Diamond homologs: A1V9Q3, A3N3J9, A4G8D1, A4XYF5, A5N6M3, A5W9A2, A6Q486, A6QBG7, A6T225, A6VCL7, A9IGC5, B0BTI6, B0KIS4, B1J255, B2TLZ8, B2UBP2, B2V2I6, B7V1H2, B9FHF3, C1DD87, C1DFM2, C3K274, D2H417, D3ZD82, F1RTY8, O42196, O54946, O75190, O89114, P0CW06, P0CW07, P30725, P43735, P50027, P56101, P60904, P60905, P81999, Q02FR2, Q03751

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1062 predictions. Top by Δscore:

Variant	Effect	Δscore
8:66051529:A:AG	acceptor_gain	1.0000
8:66051530:G:GG	acceptor_gain	1.0000
8:66076650:A:AG	acceptor_gain	1.0000
8:66076651:T:G	acceptor_gain	1.0000
8:66076655:A:AG	acceptor_gain	1.0000
8:66076656:A:G	acceptor_gain	1.0000
8:66076657:A:AG	acceptor_gain	1.0000
8:66076658:A:AG	acceptor_gain	1.0000
8:66076658:A:C	acceptor_loss	1.0000
8:66076659:G:GC	acceptor_gain	1.0000
8:66076659:GA:G	acceptor_gain	1.0000
8:66076659:GAA:G	acceptor_gain	1.0000
8:66076659:GAAA:G	acceptor_gain	1.0000
8:66076659:GAAAA:G	acceptor_gain	1.0000
8:66051530:GTT:G	acceptor_gain	0.9900
8:66051530:GTTTT:G	acceptor_gain	0.9900
8:66051663:ACAG:A	donor_loss	0.9900
8:66051664:CAG:C	donor_loss	0.9900
8:66051667:G:GA	donor_loss	0.9900
8:66051668:T:A	donor_loss	0.9900
8:66076860:GCTG:G	donor_gain	0.9900
8:66076869:CAAAG:C	donor_loss	0.9900
8:66076870:AAAGG:A	donor_loss	0.9900
8:66076872:AGGTG:A	donor_loss	0.9900
8:66076874:GTGA:G	donor_loss	0.9900
8:66076907:G:GG	donor_gain	0.9900
8:66080371:CCCTA:C	acceptor_loss	0.9900
8:66080372:CCTAG:C	acceptor_loss	0.9900
8:66080373:CTA:C	acceptor_loss	0.9900
8:66080374:TAGG:T	acceptor_loss	0.9900

AlphaMissense

1303 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:66076679:C:G	H47D	0.998
8:66076681:T:A	H47Q	0.998
8:66076681:T:G	H47Q	0.998
8:66076791:G:A	G84E	0.998
8:66076660:A:C	R40S	0.997
8:66076660:A:T	R40S	0.997
8:66076668:C:A	A43D	0.997
8:66076752:T:A	L71H	0.997
8:66076752:T:C	L71P	0.997
8:66076791:G:T	G84V	0.997
8:66076721:T:C	F61L	0.996
8:66076723:T:A	F61L	0.996
8:66076723:T:G	F61L	0.996
8:66076811:G:C	A91P	0.995
8:66051662:T:G	Y39D	0.994
8:66051666:G:C	R40T	0.994
8:66076679:C:A	H47N	0.994
8:66076722:T:C	F61S	0.994
8:66076739:G:C	A67P	0.994
8:66076740:C:A	A67D	0.994
8:66076800:G:A	G87E	0.994
8:66076778:T:G	Y80D	0.993
8:66076799:G:A	G87R	0.993
8:66076799:G:C	G87R	0.993
8:66076690:G:C	K50N	0.992
8:66076690:G:T	K50N	0.992
8:66076671:T:C	L44P	0.991
8:66076680:A:G	H47R	0.991
8:66076722:T:G	F61C	0.988
8:66076752:T:G	L71R	0.988

dbSNP variants (sampled 300 via entrez): RS1000001335 (8:66049947 A>G), RS1000049226 (8:66029232 A>G), RS1000060545 (8:66086461 C>T), RS1000066140 (8:66035506 T>C), RS1000066624 (8:66101528 G>A), RS1000067702 (8:66047247 T>C), RS1000092941 (8:66061888 A>G), RS1000138512 (8:66040989 A>G), RS1000234930 (8:66052249 C>A,T), RS1000281524 (8:66091871 G>A), RS1000310219 (8:66051248 T>G), RS1000400412 (8:66029064 T>G), RS1000418260 (8:66099308 G>A), RS1000421182 (8:66058405 T>C), RS1000506248 (8:66093064 T>C)

Disease associations

OMIM: gene MIM:613945 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001352_3	HIV-1 viral setpoint	6.000000e-06
GCST001545_1	Coronary heart disease event reduction (statin therapy interaction)	5.000000e-07
GCST002949_24	Epilepsy and lamotrigine-induced maculopapular eruptions	6.000000e-07
GCST006224_5	Right lateral prefrontal cortical growth	7.000000e-06
GCST006899_8	Thyroid stimulating hormone levels	1.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006319	HIV viral set point measurement
EFO:1001253	maculopapular eruption

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
terbufos	increases methylation	1
Am 580	increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Rosiglitazone	increases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Succimer	decreases expression, affects cotreatment	1
Drugs, Chinese Herbal	increases expression	1
Fonofos	increases methylation	1
Ethyl Methanesulfonate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Naphthoquinones	increases expression	1
Parathion	increases methylation	1
Smoke	increases expression	1
Tretinoin	increases expression	1
Magnetite Nanoparticles	decreases expression, affects cotreatment	1

Clinical trials (associated diseases)

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