DNAJC5G

Summary

DNAJC5G (DnaJ heat shock protein family (Hsp40) member C5 gamma, HGNC:24844) is a protein-coding gene on chromosome 2p23.3, encoding DnaJ homolog subfamily C member 5G (Q8N7S2).

Predicted to be located in cytoplasm and membrane.

Source: NCBI Gene 285126 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 26 total
• MANE Select transcript: NM_173650

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24844
Approved symbol	DNAJC5G
Name	DnaJ heat shock protein family (Hsp40) member C5 gamma
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ40417, CSP-gamma
Ensembl gene	ENSG00000163793
Ensembl biotype	protein_coding
OMIM	613946
Entrez	285126

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron

ENST00000296097, ENST00000402462, ENST00000404433, ENST00000406962, ENST00000420191, ENST00000460358

RefSeq mRNA: 3 — MANE Select: NM_173650 NM_001303127, NM_001303128, NM_173650

CCDS: CCDS1744, CCDS77397

Canonical transcript exons

ENST00000296097 — 7 exons

Exon	Start	End
ENSE00001078298	27277754	27278015
ENSE00001223910	27276726	27276841
ENSE00001223919	27276106	27276387
ENSE00001560930	27280429	27281499
ENSE00001627732	27275433	27275553
ENSE00003621668	27280166	27280233
ENSE00003651679	27278188	27278332

Expression profiles

Bgee: expression breadth ubiquitous, 115 present calls, max score 89.15.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1119 / max 121.7929, expressed in 8 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19343	0.0781	6
19344	0.0158	4
202122	0.0102	4
19345	0.0078	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	89.15	gold quality
right testis	UBERON:0004534	88.85	gold quality
testis	UBERON:0000473	85.85	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.88	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.90	gold quality
right frontal lobe	UBERON:0002810	72.67	gold quality
apex of heart	UBERON:0002098	71.18	gold quality
Brodmann (1909) area 9	UBERON:0013540	70.01	gold quality
corpus epididymis	UBERON:0004359	69.18	gold quality
right atrium auricular region	UBERON:0006631	68.72	gold quality
sperm	CL:0000019	68.71	gold quality
cardiac atrium	UBERON:0002081	68.00	gold quality
heart left ventricle	UBERON:0002084	67.35	gold quality
left adrenal gland cortex	UBERON:0035825	66.82	gold quality
cardiac ventricle	UBERON:0002082	66.44	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	65.67	gold quality
adult organism	UBERON:0007023	64.79	silver quality
heart	UBERON:0000948	64.13	gold quality
adrenal cortex	UBERON:0001235	64.05	gold quality
secondary oocyte	CL:0000655	63.39	gold quality
left adrenal gland	UBERON:0001234	63.02	gold quality
prefrontal cortex	UBERON:0000451	62.72	gold quality
frontal cortex	UBERON:0001870	62.49	gold quality
anterior cingulate cortex	UBERON:0009835	62.44	gold quality
right adrenal gland cortex	UBERON:0035827	62.09	gold quality
right adrenal gland	UBERON:0001233	61.54	gold quality
neocortex	UBERON:0001950	61.54	gold quality
cauda epididymis	UBERON:0004360	61.44	gold quality
primary visual cortex	UBERON:0002436	59.53	gold quality
cerebral cortex	UBERON:0000956	58.78	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting DNAJC5G, 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-4481	100.00	66.42	1669
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-888-3P	99.53	69.77	1057
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-3915	99.45	68.49	1905
HSA-MIR-150-3P	99.43	70.51	920
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-548B-3P	99.38	67.26	1000
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-3199	99.17	65.19	696
HSA-MIR-8052	99.17	65.01	719
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-6760-5P	98.87	66.73	1515
HSA-MIR-5000-3P	98.79	65.63	1251

Cross-species orthologs

19 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnajc5gb	ENSDARG00000017687
danio_rerio	dnajc3b	ENSDARG00000017874
danio_rerio	dnajc3a	ENSDARG00000041110
danio_rerio	dnajc5ga	ENSDARG00000041896
mus_musculus	Dnajc5g	ENSMUSG00000053856
rattus_norvegicus	Dnajc5g	ENSRNOG00000026578
drosophila_melanogaster	Csp	FBGN0004179
drosophila_melanogaster	CG2790	FBGN0027599
drosophila_melanogaster	Tpr2	FBGN0032586
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), DNAJC5B (ENSG00000147570), DNAJC7 (ENSG00000168259), DNAJC21 (ENSG00000168724), DNAJC18 (ENSG00000170464), DNAJC24 (ENSG00000170946), DNAJC30 (ENSG00000176410), DNAJC9 (ENSG00000213551)

Protein

Protein identifiers

DnaJ homolog subfamily C member 5G — Q8N7S2 (reviewed: Q8N7S2)

Alternative names: Cysteine string protein-gamma

All UniProt accessions (3): B5MCA9, C9J078, Q8N7S2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Testis specific.

Post-translational modifications. Palmitoylated.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N7S2-1	1	yes
Q8N7S2-2	2

RefSeq proteins (3): NP_001290056, NP_001290057, NP_775921* (*=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 (8 total): splice variant 2, sequence variant 2, chain 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N7S2-F1	70.15	0.05

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 54 (showing top): E2F_Q4, E2F_Q4_01, E2F4DP1_01, E2F1DP1_01, E2F_Q3, E2F1DP2_01, E2F1_Q3, E2F_Q6_01, E2F_Q3_01, STAT1_02, E2F_02, E2F_Q6, E2F4DP2_01, STAT1_03, BILANGES_SERUM_SENSITIVE_VIA_TSC1

GO Biological Process (0):

GO Molecular Function (0):

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
intracellular anatomical structure	1

Protein interactions and networks

STRING

1613 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAJC5G	DNAJC3	Q13217	526
DNAJC5G	C5orf52	A6NGY3	476
DNAJC5G	DNAJC9	Q8WXX5	473
DNAJC5G	CFAP97D1	B2RV13	432
DNAJC5G	DNAJC2	Q99543	399
DNAJC5G	CCT7	Q99832	397
DNAJC5G	NKPD1	Q17RQ9	394
DNAJC5G	CCDC116	Q8IYX3	381
DNAJC5G	DNAJC27	Q9NZQ0	376
DNAJC5G	FAF1	Q9UNN5	372
DNAJC5G	DNAJC12	Q9UKB3	371
DNAJC5G	PIEZO1	Q92508	371
DNAJC5G	HSPA12B	Q96MM6	368
DNAJC5G	ZNF317	Q96PQ6	355
DNAJC5G	CCT8	P50990	353

IntAct

0 interactions, top by confidence:

BioGRID (9): LTV1 (Affinity Capture-MS), RANBP3 (Affinity Capture-MS), RAB3GAP2 (Affinity Capture-MS), ECH1 (Proximity Label-MS), NBN (Proximity Label-MS), BAG6 (Proximity Label-MS), UBL4A (Proximity Label-MS), TXNL1 (Proximity Label-MS), SEC24C (Proximity Label-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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

876 predictions. Top by Δscore:

Variant	Effect	Δscore
2:27278239:T:A	acceptor_gain	1.0000
2:27278236:T:A	acceptor_gain	0.9900
2:27280425:CTAGG:C	acceptor_loss	0.9900
2:27280426:TAG:T	acceptor_loss	0.9900
2:27280427:A:C	acceptor_loss	0.9900
2:27277967:TGAAG:T	donor_gain	0.9800
2:27278186:A:AG	acceptor_gain	0.9800
2:27278187:G:GG	acceptor_gain	0.9800
2:27278242:T:A	acceptor_gain	0.9800
2:27278248:T:TA	acceptor_gain	0.9800
2:27278251:T:A	acceptor_gain	0.9800
2:27278253:T:TA	acceptor_gain	0.9800
2:27280427:A:AG	acceptor_gain	0.9800
2:27280428:G:GG	acceptor_gain	0.9800
2:27280428:GGT:G	acceptor_gain	0.9800
2:27278230:T:A	acceptor_gain	0.9700
2:27276718:T:TA	acceptor_gain	0.9600
2:27278104:G:A	acceptor_gain	0.9600
2:27278224:T:A	acceptor_gain	0.9600
2:27278233:T:A	acceptor_gain	0.9600
2:27275552:AGG:A	donor_loss	0.9500
2:27280420:C:CA	acceptor_gain	0.9500
2:27275556:A:T	donor_loss	0.9400
2:27277982:A:G	donor_gain	0.9400
2:27278187:GAC:G	acceptor_gain	0.9400
2:27280428:GGTGC:G	acceptor_gain	0.9400
2:27278182:TTTTA:T	acceptor_loss	0.9300
2:27278183:TTTAG:T	acceptor_loss	0.9300
2:27278184:TTA:T	acceptor_loss	0.9300
2:27278185:TA:T	acceptor_loss	0.9300

AlphaMissense

1254 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:27277863:T:C	F75L	0.881
2:27277865:C:A	F75L	0.881
2:27277865:C:G	F75L	0.881
2:27277912:G:C	R91P	0.873
2:27278203:T:C	C131R	0.860
2:27278015:G:C	K125N	0.851
2:27278015:G:T	K125N	0.851
2:27278010:T:C	F124L	0.819
2:27278012:C:A	F124L	0.819
2:27278012:C:G	F124L	0.819
2:27278218:T:C	C136R	0.805
2:27277989:T:C	F117L	0.800
2:27277991:T:A	F117L	0.800
2:27277991:T:G	F117L	0.800
2:27277910:G:C	K90N	0.798
2:27277910:G:T	K90N	0.798
2:27278195:T:A	V128D	0.795
2:27277868:A:C	K76N	0.772
2:27277868:A:T	K76N	0.772
2:27277933:G:T	G98V	0.749
2:27277832:G:C	K64N	0.744
2:27277832:G:T	K64N	0.744
2:27278224:T:C	C138R	0.740
2:27277962:T:C	F108L	0.739
2:27277964:T:A	F108L	0.739
2:27277964:T:G	F108L	0.739
2:27278221:T:C	C137R	0.739
2:27277882:C:A	A81D	0.729
2:27277823:T:A	H61Q	0.727
2:27277823:T:G	H61Q	0.727

dbSNP variants (sampled 300 via entrez): RS1000082722 (2:27273662 C>T), RS1000115953 (2:27280272 A>G), RS1000617111 (2:27279454 T>A,C,G), RS1000866538 (2:27279022 AG>A), RS1000981955 (2:27279198 C>T), RS1001073366 (2:27279168 A>C,G), RS1001413258 (2:27279925 A>T), RS1002021072 (2:27277355 C>T), RS1002394264 (2:27278142 C>A,G,T), RS1002625589 (2:27275936 G>A), RS1003085883 (2:27275632 C>T), RS1003121757 (2:27280784 A>G), RS1003197619 (2:27278781 C>A,G,T), RS1003428485 (2:27276932 T>TC), RS1003684959 (2:27274330 A>G)

Disease associations

OMIM: gene MIM:613946 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
clothianidin	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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