DNAJC28

Summary

DNAJC28 (DnaJ heat shock protein family (Hsp40) member C28, HGNC:1297) is a protein-coding gene on chromosome 21q22.11, encoding DnaJ homolog subfamily C member 28 (Q9NX36). May have a role in protein folding or as a chaperone.

This gene encodes a member of the DnaJ heat shock protein family. The encoded protein, which contains a conserved N-terminal DnaJ domain, is thought to play a role in protein folding or act as a molecular chaperone protein.

Source: NCBI Gene 54943 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 43 total
• Dosage sensitivity (ClinGen): haploinsufficiency dosage sensitivity unlikely, triplosensitivity no evidence
• MANE Select transcript: NM_001040192

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1297
Approved symbol	DNAJC28
Name	DnaJ heat shock protein family (Hsp40) member C28
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	C21orf78
Ensembl gene	ENSG00000177692
Ensembl biotype	protein_coding
Entrez	54943

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000314399, ENST00000381947, ENST00000402202, ENST00000885491, ENST00000922267, ENST00000949776, ENST00000949777

RefSeq mRNA: 3 — MANE Select: NM_001040192 NM_001040192, NM_001320746, NM_017833

CCDS: CCDS13626

Canonical transcript exons

ENST00000381947 — 2 exons

Exon	Start	End
ENSE00001490359	33491602	33491716
ENSE00001813387	33488055	33489424

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 77.46.

FANTOM5 (CAGE): breadth broad, TPM avg 1.4107 / max 36.1110, expressed in 757 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190255	1.2980	714
190254	0.1128	43

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.46	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.11	gold quality
islet of Langerhans	UBERON:0000006	74.36	gold quality
apex of heart	UBERON:0002098	73.12	gold quality
hindlimb stylopod muscle	UBERON:0004252	72.58	gold quality
prefrontal cortex	UBERON:0000451	72.39	gold quality
testis	UBERON:0000473	71.90	gold quality
muscle of leg	UBERON:0001383	71.57	gold quality
right adrenal gland cortex	UBERON:0035827	71.53	gold quality
left testis	UBERON:0004533	71.50	gold quality
gastrocnemius	UBERON:0001388	71.22	gold quality
right adrenal gland	UBERON:0001233	71.15	gold quality
heart left ventricle	UBERON:0002084	71.06	gold quality
superior frontal gyrus	UBERON:0002661	70.72	gold quality
right testis	UBERON:0004534	70.55	gold quality
frontal cortex	UBERON:0001870	70.35	gold quality
Brodmann (1909) area 9	UBERON:0013540	70.03	gold quality
primary visual cortex	UBERON:0002436	70.01	gold quality
skeletal muscle tissue	UBERON:0001134	69.83	gold quality
corpus callosum	UBERON:0002336	69.78	gold quality
left adrenal gland	UBERON:0001234	69.19	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	69.09	gold quality
cerebral cortex	UBERON:0000956	68.88	gold quality
muscle tissue	UBERON:0002385	68.59	gold quality
cortical plate	UBERON:0005343	68.45	gold quality
adrenal gland	UBERON:0002369	68.44	gold quality
adrenal tissue	UBERON:0018303	68.40	gold quality
adult mammalian kidney	UBERON:0000082	68.29	gold quality
metanephros cortex	UBERON:0010533	68.16	gold quality
anterior cingulate cortex	UBERON:0009835	67.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.89

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting DNAJC28, 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-1250-3P	99.96	70.04	4038
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-578	99.46	68.36	1787
HSA-MIR-183-5P	99.31	72.27	1164
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-8070	99.07	69.30	1303
HSA-MIR-4716-5P	98.82	68.57	1168
HSA-MIR-5000-3P	98.79	65.63	1251
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-643	97.35	67.91	805
HSA-MIR-342-3P	96.44	67.48	1344

Functional genomics

ClinGen dosage: haploinsufficiency 40 (dosage sensitivity unlikely), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnajc28	ENSDARG00000018181
mus_musculus	Dnajc28	ENSMUSG00000039763
rattus_norvegicus	Dnajc28	ENSRNOG00000079381
drosophila_melanogaster	CG43322	FBGN0263027

Paralogs (1): COG4 (ENSG00000103051)

Protein

Protein identifiers

DnaJ homolog subfamily C member 28 — Q9NX36 (reviewed: Q9NX36)

All UniProt accessions (1): Q9NX36

UniProt curated annotations — full annotation on UniProt →

Function. May have a role in protein folding or as a chaperone.

Tissue specificity. Expressed in the fetal and adult brain, testis, uterus, spleen and liver.

RefSeq proteins (3): NP_001035282, NP_001307675, NP_060303 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001623	DnaJ_domain	Domain
IPR018961	DnaJ_homolog_subfam-C_membr-28	Domain
IPR036869	J_dom_sf	Homologous_superfamily
IPR052573	DnaJ_C_subfamily_28	Family

Pfam: PF00226, PF09350

UniProt features (5 total): chain 1, domain 1, coiled-coil region 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NX36-F1	75.15	0.35

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): 347

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 89 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, MODULE_48, chr21q22, MODULE_95, GOBP_TEMPERATURE_HOMEOSTASIS, GOBP_HOMEOSTATIC_PROCESS, LU_EZH2_TARGETS_DN, FIGUEROA_AML_METHYLATION_CLUSTER_6_DN, LEE_BMP2_TARGETS_UP, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, MODULE_163, DCA_UP.V1_UP, ASH1L_TARGET_GENES, DACH1_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

612 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAJC28	FAM120C	Q9NX05	720
DNAJC28	MPLKIP	Q8TAP9	717
DNAJC28	SUGCT	Q9HAC7	667
DNAJC28	FAM3B	P58499	662
DNAJC28	DNAJC27	Q9NZQ0	610
DNAJC28	DNAJC24	Q6P3W2	610
DNAJC28	CTTNBP2	Q8WZ74	605
DNAJC28	DNAJC9	Q8WXX5	599
DNAJC28	TMEM50B	P56557	577
DNAJC28	DNAJC22	Q8N4W6	558
DNAJC28	DNAJC8	O75937	538
DNAJC28	DNAJC18	Q9H819	538
DNAJC28	DNAJC14	Q6Y2X3	532
DNAJC28	ASZ1	Q8WWH4	526
DNAJC28	DNAJC25	Q9H1X3	524

IntAct

11 interactions, top by confidence:

A	B	Type	Score
ATP5PB	SLC19A2	psi-mi:“MI:0914”(association)	0.640
DNAJC28	ATP5F1B	psi-mi:“MI:0914”(association)	0.530
ATP5ME	SLC19A2	psi-mi:“MI:0914”(association)	0.530
ATP5PF	SLC19A2	psi-mi:“MI:0914”(association)	0.530
DNAJC28	AHNAK	psi-mi:“MI:0915”(physical association)	0.400
DNAJC28	MAPK6	psi-mi:“MI:0915”(physical association)	0.370
PYCARD	MYO1C	psi-mi:“MI:0914”(association)	0.350
	AP3B1	psi-mi:“MI:0914”(association)	0.350

BioGRID (101): DNAJC28 (Affinity Capture-MS), DNAJC28 (Affinity Capture-MS), LRRC46 (Affinity Capture-MS), DNAJC28 (Affinity Capture-MS), ATP5B (Affinity Capture-MS), LRRC46 (Affinity Capture-MS), DNAJC28 (Proximity Label-MS), DNAJC28 (Proximity Label-MS), DDB1 (Affinity Capture-MS), SRRM2 (Affinity Capture-MS), ANKRD52 (Affinity Capture-MS), DCAF8 (Affinity Capture-MS), UBR5 (Affinity Capture-MS), IARS2 (Affinity Capture-MS), PRKAR1A (Affinity Capture-MS)

ESM2 similar proteins: A0JMA8, A4IHS0, B5DF07, D3ZRC4, D6WMX4, E7EXT2, F7AEX0, F7BJB9, O15091, O93530, Q09287, Q14149, Q1L987, Q24558, Q28C44, Q2KI45, Q2TBE0, Q32NQ8, Q3MHI8, Q3UFY8, Q4KLI2, Q4R366, Q5RDI0, Q5U245, Q5U2R4, Q5VZ89, Q5XTS1, Q66JD1, Q66JJ4, Q6DDV1, Q6GLI9, Q7JUX9, Q7L0Y3, Q7Z401, Q86VD1, Q8C1Z8, Q8JZY4, Q8K1N1, Q8N6Q8, Q8TBZ6

Diamond homologs: O34887, P36677, Q9NX36, A0A0D2XVZ5, A0AIS3, A3DF24, A4IR30, A4XKA5, A5ITA7, A5UYW4, A5VJE8, A6QHC2, A6U251, A7I2G3, A7NS65, A7X2Y0, A7Z6W0, A8FFD1, A8Z4B8, A9KE65, A9KKT9, A9NDK6, B0JW23, B1XQF6, B1YKT0, B2G6W4, B2GBQ6, B7IFE0, B7KEJ8, B8CXL0, B8DE39, B8HLD2, B9DNJ9, B9MJZ0, C0ZB49, C1KVB9, C4Z1J3, C5D4U0, G2K045, G3H0N9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

225 predictions. Top by Δscore:

Variant	Effect	Δscore
21:33490972:A:C	donor_gain	0.9800
21:33489423:ACCTA:A	acceptor_loss	0.9700
21:33489424:CC:C	acceptor_loss	0.9700
21:33489425:C:CG	acceptor_loss	0.9700
21:33489426:T:C	acceptor_loss	0.9700
21:33489425:C:CC	acceptor_gain	0.9300
21:33491320:C:CA	donor_gain	0.9200
21:33489423:ACCT:A	acceptor_gain	0.8900
21:33489420:ATGAC:A	acceptor_gain	0.8700
21:33489421:TGAC:T	acceptor_gain	0.8700
21:33490984:T:TA	donor_gain	0.8600
21:33491413:CTCAC:C	donor_loss	0.8400
21:33491414:TCACC:T	donor_loss	0.8400
21:33491416:A:G	donor_loss	0.8400
21:33491417:C:T	donor_loss	0.8400
21:33489424:CCTAT:C	acceptor_gain	0.8100
21:33489422:GACCT:G	acceptor_gain	0.7900
21:33489433:C:CT	acceptor_gain	0.7900
21:33491418:C:A	donor_loss	0.7900
21:33489427:A:C	acceptor_gain	0.7400
21:33491060:ACGT:A	donor_loss	0.7400
21:33491061:CGTA:C	donor_loss	0.7400
21:33491062:GTAC:G	donor_loss	0.7400
21:33491063:TAC:T	donor_loss	0.7400
21:33491064:A:C	donor_loss	0.7400
21:33491065:C:T	donor_loss	0.7400
21:33491425:G:T	donor_gain	0.7300
21:33489422:GAC:G	acceptor_gain	0.7100
21:33489425:CTAT:C	acceptor_gain	0.7100
21:33490978:TA:T	donor_gain	0.7100

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000974058 (21:33490077 G>A), RS1001028126 (21:33489742 G>A), RS1001424873 (21:33487771 A>G), RS1002206205 (21:33489492 T>G), RS1002608190 (21:33488173 T>A), RS1003030811 (21:33492991 C>T), RS1003302656 (21:33493374 T>C), RS1003492709 (21:33492663 G>A), RS1004433579 (21:33491863 C>A,T), RS1005893443 (21:33491055 A>G), RS1007013486 (21:33490753 T>C), RS1007074005 (21:33491829 G>A,C), RS1007424006 (21:33487652 C>T), RS1009238029 (21:33493004 C>T), RS1009520598 (21:33493184 C>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002598_2	Educational attainment	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004784	self reported educational attainment

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
chloropicrin	increases expression	2
(+)-JQ1 compound	increases expression	2
methylmercuric chloride	decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
ferrous chloride	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
clothianidin	decreases expression	1
ICG 001	increases expression	1
licochalcone B	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Acetaminophen	decreases expression	1
Atrazine	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Silicon Dioxide	decreases expression	1
Urethane	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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