DNAJB13

Summary

DNAJB13 (DnaJ heat shock protein family (Hsp40) member B13, HGNC:30718) is a protein-coding gene on chromosome 11q13.4, encoding DnaJ homolog subfamily B member 13 (P59910). Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia.

This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein associates with the sperm annulus, as part of the septin complex, through direct interaction with septin 4, during sperm terminal differentiation. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and male infertility.

Source: NCBI Gene 374407 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 34 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 233 total — 8 pathogenic, 4 likely-pathogenic
• GTEx eGene: eQTL in 21 tissues, sQTL in 1 (q < 0.05)
• Phenotypes (HPO): 54
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.90 (unconstrained)
• MANE Select transcript: NM_153614
• Interaction hub: 2,077 STRING partners (top 7% of genes corpus-wide)

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30718
Approved symbol	DNAJB13
Name	DnaJ heat shock protein family (Hsp40) member B13
Location	11q13.4
Locus type	gene with protein product
Status	Approved
Aliases	TSARG6, RSPH16A
Ensembl gene	ENSG00000187726
Ensembl biotype	protein_coding
OMIM	610263
Entrez	374407

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron

MANE Select: ENST00000339764

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 3: 2, TSL 4: 1

ENST00000339764, ENST00000535730, ENST00000537753, ENST00000542350, ENST00000543947, ENST00000897971, ENST00001119997, ENST00001144119

RefSeq mRNA: 3 — MANE Select: NM_153614 NM_001377263, NM_001441321, NM_153614

CCDS: CCDS8227

Canonical transcript exons

ENST00000339764 — 8 exons

Exon	Start	End
ENSE00001370087	73959494	73959655
ENSE00001377750	73964878	73965035
ENSE00001381264	73968345	73968458
ENSE00001383720	73951026	73951137
ENSE00002470248	73969961	73970281
ENSE00002483728	73969246	73969322
ENSE00003556881	73966138	73966251
ENSE00003684859	73958317	73958420

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 98.71.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4017 / max 53.6134, expressed in 122 samples.

Highest expression (Bgee): uterine tube, bronchial epithelial cell, bronchus, granulocyte, olfactory segment of nasal mucosa.

Genetic regulation across tissues (GTEx eQTL / sQTL)

DNAJB13 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 21 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 22 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	sqtl	3.7e-25	-0.61	11:73959600:T:C
Testis	eqtl	3.0e-16	-0.23	11:73967900:T:C
Brain Frontal Cortex BA9	eqtl	3.0e-05	+0.75	11:73964815:G:GCGCC
Nerve Tibial	eqtl	5.0e-05	+0.36	11:73969745:TAAAC:T
Brain Nucleus accumbens basal ganglia	eqtl	2.8e-04	+0.37	11:73962035:C:T
Brain Cerebellum	eqtl	5.3e-04	-0.43	11:73994230:C:T
Lung	eqtl	5.4e-04	+0.16	11:73969745:TAAAC:T
Brain Cortex	eqtl	1.6e-03	+0.52	11:73969745:TAAAC:T
Brain Hippocampus	eqtl	2.5e-03	+0.28	11:73969745:TAAAC:T
Brain Anterior cingulate cortex BA24	eqtl	3.6e-03	+0.58	11:73973900:T:G
Whole Blood	eqtl	3.8e-03	+0.18	11:73984800:C:T
Skin Not Sun Exposed Suprapubic	eqtl	4.5e-03	-0.24	11:73967900:T:C
Cells EBV-transformed lymphocytes	eqtl	5.9e-03	+0.71	11:73958469:AAGTCTCT:A
Adipose Subcutaneous	eqtl	7.7e-03	+0.39	11:73964815:G:GCGCC
Brain Caudate basal ganglia	eqtl	8.1e-03	+0.29	11:73969745:TAAAC:T
Pituitary	eqtl	8.8e-03	+0.31	11:73973900:T:G
Thyroid	eqtl	1.2e-02	+0.23	11:74009120:G:A
Brain Putamen basal ganglia	eqtl	1.3e-02	-0.37	11:73993135:T:C
Esophagus Mucosa	eqtl	1.3e-02	-0.31	11:74438529:C:T
Colon Sigmoid	eqtl	3.4e-02	+0.35	11:73988619:C:T

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
115831	0.4017	122

Top tissues by expression

showing 100 of 250 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.71	gold quality
bronchial epithelial cell	CL:0002328	93.60	gold quality
bronchus	UBERON:0002185	92.18	gold quality
granulocyte	CL:0000094	90.06	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.84	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.23	gold quality
fallopian tube	UBERON:0003889	84.39	gold quality
left testis	UBERON:0004533	84.05	gold quality
right testis	UBERON:0004534	82.75	gold quality
nasal cavity epithelium	UBERON:0005384	82.74	silver quality
oviduct epithelium	UBERON:0004804	81.64	gold quality
mucosa of paranasal sinus	UBERON:0005030	81.28	gold quality
testis	UBERON:0000473	81.13	gold quality
tibialis anterior	UBERON:0001385	79.80	silver quality
ileal mucosa	UBERON:0000331	77.58	gold quality
left uterine tube	UBERON:0001303	75.90	gold quality
monocyte	CL:0000576	75.72	gold quality
pancreatic ductal cell	CL:0002079	75.30	silver quality
leukocyte	CL:0000738	75.24	gold quality
epithelium of nasopharynx	UBERON:0001951	73.00	gold quality
nasal cavity mucosa	UBERON:0001826	72.87	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	69.79	gold quality
endometrium	UBERON:0001295	69.75	gold quality
right lung	UBERON:0002167	69.60	gold quality
kidney epithelium	UBERON:0004819	69.30	gold quality
deltoid	UBERON:0001476	68.00	gold quality
endocervix	UBERON:0000458	67.88	gold quality
cardiac muscle of right atrium	UBERON:0003379	66.88	gold quality
oocyte	CL:0000023	65.49	silver quality
seminal vesicle	UBERON:0000998	65.27	silver quality
epithelial cell of pancreas	CL:0000083	64.81	gold quality
left ventricle myocardium	UBERON:0006566	64.74	gold quality
myocardium	UBERON:0002349	64.04	gold quality
quadriceps femoris	UBERON:0001377	63.98	gold quality
adult organism	UBERON:0007023	63.97	gold quality
gall bladder	UBERON:0002110	63.80	gold quality
secondary oocyte	CL:0000655	63.61	gold quality
heart right ventricle	UBERON:0002080	63.61	gold quality
upper lobe of left lung	UBERON:0008952	63.48	gold quality
bone marrow cell	CL:0002092	63.19	silver quality
caput epididymis	UBERON:0004358	63.11	gold quality
lymph node	UBERON:0000029	62.50	gold quality
biceps brachii	UBERON:0001507	62.36	gold quality
caudate nucleus	UBERON:0001873	62.31	gold quality
vastus lateralis	UBERON:0001379	62.30	gold quality
gingival epithelium	UBERON:0001949	62.28	gold quality
sperm	CL:0000019	61.93	gold quality
upper lobe of lung	UBERON:0008948	61.79	gold quality
trachea	UBERON:0003126	61.62	gold quality
vermiform appendix	UBERON:0001154	61.43	gold quality
lateral globus pallidus	UBERON:0002476	61.41	gold quality
metanephros	UBERON:0000081	61.29	gold quality
metanephros cortex	UBERON:0010533	61.19	gold quality
cortex of kidney	UBERON:0001225	60.99	gold quality
lateral nuclear group of thalamus	UBERON:0002736	60.95	gold quality
small intestine Peyer’s patch	UBERON:0003454	60.83	gold quality
blood	UBERON:0000178	60.82	gold quality
gastrocnemius	UBERON:0001388	59.75	gold quality
spleen	UBERON:0002106	59.74	gold quality
small intestine	UBERON:0002108	59.63	gold quality
hypothalamus	UBERON:0001898	59.43	gold quality
stromal cell of endometrium	CL:0002255	59.37	gold quality
parotid gland	UBERON:0001831	59.36	gold quality
nucleus accumbens	UBERON:0001882	59.14	gold quality
upper leg skin	UBERON:0004262	58.99	silver quality
adenohypophysis	UBERON:0002196	58.79	gold quality
uterus	UBERON:0000995	58.66	gold quality
caecum	UBERON:0001153	58.60	gold quality
lung	UBERON:0002048	58.44	gold quality
skeletal muscle tissue	UBERON:0001134	58.17	gold quality
muscle tissue	UBERON:0002385	58.02	gold quality
body of pancreas	UBERON:0001150	57.85	gold quality
buccal mucosa cell	CL:0002336	57.71	gold quality
superficial temporal artery	UBERON:0001614	57.48	gold quality
muscle of leg	UBERON:0001383	57.39	gold quality
substantia nigra pars reticulata	UBERON:0001966	57.35	gold quality
amygdala	UBERON:0001876	57.26	gold quality
right coronary artery	UBERON:0001625	56.81	gold quality
gingiva	UBERON:0001828	56.18	gold quality
pituitary gland	UBERON:0000007	56.12	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	55.91	gold quality
placenta	UBERON:0001987	55.78	gold quality
vena cava	UBERON:0004087	55.64	gold quality
bone marrow	UBERON:0002371	55.56	gold quality
duodenum	UBERON:0002114	55.05	gold quality
pigmented layer of retina	UBERON:0001782	54.99	silver quality
Ammon’s horn	UBERON:0001954	54.83	gold quality
adult mammalian kidney	UBERON:0000082	54.40	gold quality
substantia nigra pars compacta	UBERON:0001965	54.38	gold quality
pancreas	UBERON:0001264	54.28	gold quality
putamen	UBERON:0001874	54.05	gold quality
mucosa of stomach	UBERON:0001199	54.03	gold quality
kidney	UBERON:0002113	53.75	gold quality
ganglionic eminence	UBERON:0004023	53.75	gold quality
right adrenal gland cortex	UBERON:0035827	53.60	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
uterine cervix	UBERON:0000002	52.81	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	52.50	gold quality
female reproductive system	UBERON:0000474	52.45	gold quality
forebrain	UBERON:0001890	52.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.88

HPA expression

RNA tissue specificity: Group enriched

showing 60 of 69 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Fallopian tube	tissue	50.1	high
Choroid plexus	tissue	23.9
Periaqueductal gray	tissue	13.8
Testis	tissue	10.8	high
Hypothalamus	tissue	8.3
Basal ganglia	tissue	6.8	not detected
Septum	tissue	6.2
Pons	tissue	5.9
Thalamus	tissue	5.5
Hippocampal formation	tissue	5.2
Epididymis	tissue	4.9	not detected
Cervix	tissue	4.4	medium
Superior colliculi	tissue	4.3
Bone marrow	tissue	4.2	not detected
Amygdala	tissue	4.0
Medulla oblongata	tissue	3.7
Corpus callosum	tissue	3.7
Midbrain	tissue	3.5
Substantia nigra	tissue	2.8
Seminal vesicle	tissue	2.7	not detected
Lung	tissue	2.7	not detected
Small intestine	tissue	2.7	not detected
Ventral forebrain	tissue	2.7
Cerebral cortex	tissue	2.6	not detected
Temporal cortex	tissue	2.6
Somatosensory cortex	tissue	2.5
Putamen	tissue	2.4
Entorhinal cortex	tissue	2.3
Insular cortex	tissue	2.3
Prefrontal cortex	tissue	2.2
Occipital cortex	tissue	2.2
Retrosplenial and cingulate cortex	tissue	2.1
Gallbladder	tissue	2.0	not detected
Lymph node	tissue	1.9	not detected
Nucleus accumbens	tissue	1.9
Spinal cord	tissue	1.9
Endometrium 1	tissue	1.8	medium
Olfactory bulb	tissue	1.8
Motor cortex	tissue	1.7
Retrosplenial cortex	tissue	1.6
Locus coeruleus	tissue	1.5
Postcentral gyrus	tissue	1.4
Cerebellum	tissue	1.3	not detected
Spleen	tissue	1.2	not detected
Pituitary gland	tissue	1.1
Appendix	tissue	1.1	not detected
Hippocampus	tissue	0.9	not detected
Salivary gland	tissue	0.6	not detected
Duodenum	tissue	0.6	not detected
Caudate putamen	tissue	0.6
Placenta	tissue	0.5	not detected
Retina	tissue	0.4
Pancreas	tissue	0.4	not detected
Kidney	tissue	0.3	not detected
Prostate	tissue	0.3	not detected
Stomach 1	tissue	0.2	not detected
Ovary	tissue	0.2	not detected
Skeletal muscle	tissue	0.2	not detected
Urinary bladder	tissue	0.2	not detected
Thyroid gland	tissue	0.2	not detected

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Periaquaductal grey, lateral (10.6), Nucleus tractus solitarii (9.6), Cervical spinal cord, central gray (7.2), Superior vestibular nucleus (6.4), Periaquaductal grey, dorsal (6.0).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting DNAJB13 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

7 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-6780B-3P	99.13	67.18	622
HSA-MIR-6810-3P	97.96	64.57	1023
HSA-MIR-10397-3P	97.78	65.70	601
HSA-MIR-7154-3P	97.65	65.02	985
HSA-MIR-7161-3P	96.79	68.79	798

Functional genomics

gnomAD constraint: pLI 0.000192, LOEUF 0.9, missense Z 0.352 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000339764 — one region, missense o/e 0.96.

Literature-anchored findings (GeneRIF, showing 4)

• TSARG6 is specifically expressed in adult testis with a transcript of 1.8 kb, which has a role in spermatogenesis and apoptosis (PMID:14970903)
• this study, which establishes mutations in DNAJB13 as a cause of PCD, unveils the key role played by DNAJB13 in the proper formation and function of ciliary and flagellar axonemes in humans (PMID:27486783)
• Missense mutation in DNAJB13 gene correlated with male fertility in asthenozoospermia. (PMID:31342671)
• A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia. (PMID:35166991)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnajb13	ENSDARG00000043157
mus_musculus	Dnajb13	ENSMUSG00000030708
rattus_norvegicus	Dnajb13	ENSRNOG00000017975
drosophila_melanogaster	CG12020	FBGN0035273

Paralogs (11): DNAJB11 (ENSG00000090520), DNAJB6 (ENSG00000105993), DNAJB9 (ENSG00000128590), DNAJB1 (ENSG00000132002), DNAJB2 (ENSG00000135924), DNAJB5 (ENSG00000137094), DNAJB12 (ENSG00000148719), DNAJB4 (ENSG00000162616), DNAJB14 (ENSG00000164031), DNAJB7 (ENSG00000172404), DNAJB8 (ENSG00000179407)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pongo abelii	Q5R8H0	99.7%	Diamond
Bos taurus	Q5BIP8	98.6%	Diamond
Macaca fascicularis	Q4R7Y5	96.1%	Diamond
Xenopus laevis	Q5XGU5	86.9%	Diamond
Gallus gallus	Q5F3Z5	85.7%	Diamond
Atriplex nummularia	P43644	82.6%	Diamond
Schizosaccharomyces pombe 972h-	Q09912	58.5%	Diamond
Dictyostelium discoideum	Q54PV9	50.7%	Diamond
Plasmodium falciparum 3D7	Q8IM77	38.2%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
UCP2	protein-coding	7351
UCP3	protein-coding	7352
COA4	protein-coding	51287
MRPL48	protein-coding	51642
PAAF1	protein-coding	80227

Protein

Protein identifiers

DnaJ homolog subfamily B member 13 — P59910 (reviewed: P59910)

Alternative names: Testis and spermatogenesis cell-related protein 6, Testis spermatocyte apoptosis-related gene 6 protein, Testis spermatogenesis apoptosis-related gene 3 protein, Testis spermatogenesis apoptosis-related gene 6 protein

All UniProt accessions (2): P59910, H0YFX2

UniProt curated annotations — full annotation on UniProt →

Function. Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia.

Subunit / interactions. Homodimer. Component of the axonemal radial spoke complex 1 (RS1), at least composed of spoke head proteins RSPH1, RSPH3, RSPH9 and the cilia-specific component RSPH4A or sperm-specific component RSPH6A, spoke stalk proteins RSPH14, DNAJB13, DYDC1, ROPN1L and NME5, and the anchor protein IQUB. Interacts with SUN5. Interacts with IQUB. Interacts with DNAH12.

Subcellular location. Cell projection. Cilium. Flagellum.

Tissue specificity. Specifically expressed in testis and trachea.

Disease relevance. Ciliary dyskinesia, primary, 34 (CILD34) [MIM:617091] A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD34 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
P59910-1	1	yes
P59910-2	2, TSARG5

RefSeq proteins (3): NP_001364192, NP_001428250, NP_705842* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001623	DnaJ_domain	Domain
IPR002939	DnaJ_C	Domain
IPR008971	HSP40/DnaJ_pept-bd	Homologous_superfamily
IPR018253	DnaJ_domain_CS	Conserved_site
IPR036869	J_dom_sf	Homologous_superfamily
IPR051339	DnaJ_subfamily_B	Family

Pfam: PF00226, PF01556

UniProt features (5 total): splice variant 2, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures by resolution:

PDB	Title	Method	Resolution (Å)
8J07	96nm repeat of human respiratory doublet microtubule and associated axonemal complexes	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P59910-F1	86.81	0.61

Human Protein Atlas

Protein class: Predicted intracellular proteins, Disease related genes, Human disease related genes

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): end piece; mid piece; plasma membrane; principal piece; mitotic chromosome; nucleoli; nucleoli rim; primary cilium; primary cilium tip; vesicles

Antibody reliability (HPA): IH enhanced · IF uncertain

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 210 (showing top): TGACCTY_ERR1_Q2, chr11q13, GOBP_PROTEIN_MATURATION, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_PROTEIN_FOLDING, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, LEE_AGING_NEOCORTEX_UP, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GAVIN_FOXP3_TARGETS_CLUSTER_P3

GO Biological Process (6): cilium movement (GO:0003341), protein folding (GO:0006457), flagellated sperm motility (GO:0030317), axonemal central apparatus assembly (GO:1904158), microtubule-based process (GO:0007017), cell projection organization (GO:0030030)

GO Molecular Function (2): protein-folding chaperone binding (GO:0051087), protein binding (GO:0005515)

GO Cellular Component (12): radial spoke (GO:0001534), cytosol (GO:0005829), cilium (GO:0005929), axoneme (GO:0005930), motile cilium (GO:0031514), sperm flagellum (GO:0036126), sperm midpiece (GO:0097225), sperm principal piece (GO:0097228), sperm end piece (GO:0097229), 9+2 motile cilium (GO:0097729), sperm head-tail coupling apparatus (GO:0120212), cytoplasm (GO:0005737)

GO top-level categories

31 GO namespaces:

Category	Terms
cellular anatomical structure	7
sperm flagellum	3
cellular process	2
microtubule-based movement	1
protein maturation	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
cellular component assembly	1
axoneme assembly	1
cellular component organization	1
protein binding	1
binding	1
axoneme	1
protein-containing complex	1
cytoplasm	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
cilium	1
9+2 motile cilium	1
radial spoke	1
motile cilium	1
inner dynein arm	1
outer dynein arm	1
axonemal central pair	1
axonemal doublet microtubule	1
intracellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 6 of 21 annotations. The rest are phylogenetic / computational / electronic (IEA).

6 experimentally-supported GO terms:

GO term	NS	Evidence
axonemal central apparatus assembly	BP	mutant phenotype
motile cilium	CC	direct assay
sperm end piece	CC	direct assay
sperm flagellum	CC	direct assay
sperm midpiece	CC	direct assay
sperm principal piece	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 2,077 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAJB13	RSPH4A	Q5TD94	569
DNAJB13	SUN5	Q8TC36	563
DNAJB13	RSPH3	Q86UC2	561
DNAJB13	RSPH9	Q9H1X1	554
DNAJB13	ZMYND10	O75800	533
DNAJB13	ODAD4	Q96NG3	518
DNAJB13	RSPH1	Q8WYR4	507
DNAJB13	CCDC39	Q9UFE4	494
DNAJB13	CFAP70	Q5T0N1	481
DNAJB13	DNAH1	Q9P2D7	480
DNAJB13	TTC21A	Q8NDW8	471
DNAJB13	DNAAF6	Q9NQM4	470
DNAJB13	AK7	Q96M32	464
DNAJB13	DRC7	Q8IY82	464
DNAJB13	ARMC2	Q8NEN0	464

IntAct

Human interaction partners of DNAJB13 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

13 partners by confidence:

Partner	Interaction type	MIscore	Records
GORASP2	physical association	0.560	3
LHX4	physical association	0.560	3
MDFI	physical association	0.560	3
MSS51	physical association	0.560	3
PIBF1	physical association	0.560	3
PICK1	physical association	0.560	3
PLK4	physical association	0.560	3
RAB3IP	physical association	0.560	3
SEPTIN1	physical association	0.560	3
TOM1L1	physical association	0.560	3
ZC3H12A	physical association	0.560	3
ZRANB1	physical association	0.560	3
PB2	physical association	0.510	3

BioGRID (47 interactions; top human partners by supporting records): PIBF1 (Two-hybrid; 2 records), AKT2 (Affinity Capture-MS), ANP32B (Affinity Capture-MS), BCKDHA (Affinity Capture-MS), CAPRIN1 (Affinity Capture-MS), CCDC138 (Proximity Label-MS), CCDC61 (Proximity Label-MS), CDK5RAP2 (Proximity Label-MS), CEP131 (Proximity Label-MS), CEP192 (Proximity Label-MS), CIZ1 (Proximity Label-MS), CLUH (Proximity Label-MS), DBT (Affinity Capture-MS), FKBP5 (Affinity Capture-MS), GEMIN8 (Proximity Label-MS)

Disease & clinical

Genetic variants

Variant evidence for DNAJB13: 233 ClinVar records (12 pathogenic / likely pathogenic); 1 GWAS association. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	4
Uncertain significance	74
Likely benign	72
Benign	57

Top pathogenic / likely-pathogenic (12)

Showing all 12 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
1805029	NM_153614.4(DNAJB13):c.92_95delinsGAG (p.His31fs)	Pathogenic	criteria provided, single submitter	1
2076101	NM_153614.4(DNAJB13):c.98del (p.Pro33fs)	Pathogenic	criteria provided, single submitter	1
4719893	NM_153614.4(DNAJB13):c.421G>T (p.Glu141Ter)	Pathogenic	criteria provided, single submitter	1
4764625	NM_153614.4(DNAJB13):c.391C>T (p.Arg131Ter)	Pathogenic	criteria provided, single submitter	1
4798695	NM_153614.4(DNAJB13):c.562del (p.Trp188fs)	Pathogenic	criteria provided, single submitter	1
2710385	NM_153614.4(DNAJB13):c.720+2T>C	Likely pathogenic	criteria provided, single submitter	1
2752096	NM_153614.4(DNAJB13):c.335-2A>G	Likely pathogenic	criteria provided, single submitter	1
2961411	NM_153614.4(DNAJB13):c.172+1G>A	Likely pathogenic	criteria provided, single submitter	1
3064827	NM_153614.4(DNAJB13):c.493-1G>A	Likely pathogenic	criteria provided, single submitter	1
3681557	NC_000011.10:g.73964876AG[1]	Pathogenic	criteria provided, single submitter	1
253328	NM_153614.4(DNAJB13):c.833T>G (p.Met278Arg)	Pathogenic	no assertion criteria provided	1
253329	NM_153614.4(DNAJB13):c.68+1G>C	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore DNAJB13’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 37 predictions of 935):

Position(s)	Effect	Δscore	Sites
11:73966241	donor_gain	1.0000
11:73968459–73968460	donor_loss	1.0000	5
11:73958315–73958316	acceptor_loss	0.9900	6
11:73958387	donor_gain	0.9900
11:73958411	donor_gain	0.9900
11:73964868	acceptor_gain	0.9900
11:73965036–73965037	donor_loss	0.9900	5
11:73966136–73966137	acceptor_loss	0.9900	5
11:73969959–73969960	acceptor_loss	0.9900	6
11:73964876–73964877	acceptor_loss	0.9800	6

AlphaMissense

699 missense substitutions predicted likely pathogenic (of 2,103 scored), across 181 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
F104	8	0.915	0.989
F196	8	0.906	0.992
D201	8	0.905	0.962
F294	8	0.872	0.974
F213	8	0.860	0.988
D253	8	0.830	0.947
H220	8	0.824	0.977
H32	8	0.818	0.957
F223	7	0.979	0.994
F92	7	0.955	0.987
F100	7	0.946	0.984
F298	7	0.941	0.981
F45	7	0.932	0.975
R225	7	0.924	0.995
M278	7	0.919	0.991
F110	7	0.896	0.966
D210	7	0.879	0.939
E276	7	0.868	0.940
D65	7	0.864	0.918
F67	7	0.853	0.974

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Ovary Serous Cystadenocarcinoma, Uterine Corpus Endometrial Carcinoma)

Disease associations

OMIM: gene MIM:610263 | disease phenotypes: MIM:617091

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
primary ciliary dyskinesia 34	Strong	Autosomal recessive	4
primary ciliary dyskinesia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

1 validity classifications:

Disease	Classification	Inheritance
primary ciliary dyskinesia 34	Moderate	AR

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (1 panels, 1 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

1 panels:

Panel	Rating
Respiratory ciliopathies including non-CF bronchiectasis	green

Mondo (2): primary ciliary dyskinesia 34 (MONDO:0014909), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (1): Primary ciliary dyskinesia (Orphanet:244)

HPO phenotypes

54 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000119	Abnormality of the genitourinary system
HP:0000238	Hydrocephalus
HP:0000365	Hearing impairment
HP:0000389	Chronic otitis media
HP:0000403	Recurrent otitis media
HP:0000405	Conductive hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000750	Delayed speech and language development
HP:0000924	Abnormality of the skeletal system
HP:0001217	Clubbing
HP:0001627	Abnormal heart morphology
HP:0001669	Transposition of the great arteries
HP:0001696	Situs inversus totalis
HP:0001719	Double outlet right ventricle
HP:0001742	Nasal congestion
HP:0001746	Asplenia
HP:0001748	Polysplenia
HP:0002011	Morphological central nervous system abnormality
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002837	Recurrent bronchitis
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0005301	Persistent left superior vena cava
HP:0005425	Recurrent sinopulmonary infections
HP:0006536	Airway obstruction
HP:0008222	Female infertility
HP:0010772	Anomalous pulmonary venous return
HP:0011108	Recurrent sinusitis
HP:0011109	Chronic sinusitis
HP:0011274	Recurrent mycobacterial infections
HP:0011535	Abnormal atrial arrangement
HP:0011539	Atrial situs ambiguous
HP:0011617	Pulmonary situs ambiguus
HP:0011947	Respiratory tract infection
HP:0012206	Abnormal sperm motility
HP:0012208	Immotile sperm
HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia
HP:0025177	Peribronchovascular interstitial thickening
HP:0025576	Abnormal inferior vena cava morphology
HP:0030680	Abnormal cardiovascular system morphology
HP:0030828	Wheezing
HP:0031245	Productive cough
HP:0031456	Ectopic pregnancy
HP:0032016	Abnormal sputum
HP:0032543	Lithoptysis
HP:0033036	Decreased nasal nitric oxide
HP:0033158	Reduced respiratory ciliary beating frequency
HP:0100582	Nasal polyposis
HP:0100750	Atelectasis

GWAS associations

1 associations:

Study	Trait	p-value
GCST005760_5	Dimensional psychopathology (Cognitive)	2e-7

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0009098	cognitive domain measurement

MeSH disease descriptors

2 disease descriptors:

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
Smoke	decreases expression, increases abundance, increases expression	2
Aflatoxin B1	affects methylation, increases methylation	2
triphenyl phosphate	affects expression	1
sulforaphane	increases expression	1
nickel chloride	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
bisphenol S	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Caffeine	increases phosphorylation	1
Ivermectin	decreases expression	1
Methapyrilene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Vanadium	increases abundance, increases methylation	1
Metals, Heavy	increases abundance, increases methylation	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 376 trials:

NCT	Phase	Status	Title
NCT00117546	Phase 4	UNKNOWN	Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia
NCT00567957	Phase 4	UNKNOWN	Remifentanil for General Anesthesia in Preeclamptics
NCT01030627	Phase 4	COMPLETED	Treatment Approaches to Preeclampsia
NCT01352234	Phase 4	COMPLETED	Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia
NCT01361425	Phase 4	UNKNOWN	Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape)
NCT01729468	Phase 4	COMPLETED	Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers
NCT01761916	Phase 4	COMPLETED	Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure
NCT01912677	Phase 4	COMPLETED	Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy
NCT02025426	Phase 4	TERMINATED	Phenylephrine Versus Ephedrine in Pre-eclampsia
NCT02091401	Phase 4	COMPLETED	A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen
NCT02163655	Phase 4	COMPLETED	Diuretics for Postpartum High Blood Pressure in Preeclampsia
NCT02338687	Phase 4	COMPLETED	Low Dose Calcium to Prevent Preeclampsia
NCT02396030	Phase 4	TERMINATED	Different Schemes of Magnesium Sulfate for Preeclampsia
NCT02531490	Phase 4	UNKNOWN	Early Vascular Adjustments During Hypertensive Pregnancy
NCT02699827	Phase 4	COMPLETED	Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia
NCT02835339	Phase 4	COMPLETED	Magnesium Sulfate in Obese Preeclamptics
NCT02891174	Phase 4	COMPLETED	The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy
NCT02911701	Phase 4	COMPLETED	Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features
NCT03171480	Phase 4	COMPLETED	Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia
NCT03233880	Phase 4	UNKNOWN	Impact of Antichlamydial Treatment on the Rate of Preeclampsia
NCT03237000	Phase 4	UNKNOWN	Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients
NCT03506724	Phase 4	COMPLETED	Response to Anti-hypertensives in Pregnant and Postpartum Patients
NCT03674606	Phase 4	COMPLETED	Trial of Early Screening Test for Pre-eclampsia and Growth Restriction
NCT03735433	Phase 4	TERMINATED	The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia
NCT03824119	Phase 4	UNKNOWN	Postpartum NSAIDS and Maternal Hypertension
NCT04051567	Phase 4	UNKNOWN	Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies
NCT04077853	Phase 4	COMPLETED	Progesterone in Expectantly Managed Early-onset Preeclampsia
NCT04158830	Phase 4	WITHDRAWN	Aspirin (ASA) Therapy and Preeclampsia Prevention
NCT04424693	Phase 4	UNKNOWN	Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36
NCT04631627	Phase 4	UNKNOWN	Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort
NCT04656665	Phase 4	UNKNOWN	The Effectiveness of Aspirin on Preventing Pre-eclampsia
NCT04797949	Phase 4	WITHDRAWN	Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia
NCT04908982	Phase 4	UNKNOWN	Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension
NCT05221164	Phase 4	UNKNOWN	162 mg of Aspirin for Prevention of Preeclampsia
NCT05294952	Phase 4	UNKNOWN	co Ihibtory Receptor in Preeclampsia
NCT05514847	Phase 4	ACTIVE_NOT_RECRUITING	Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients
NCT05586373	Phase 4	COMPLETED	Ibuprofen vs Dipyrone After C-section in Preeclampsia
NCT06069102	Phase 4	COMPLETED	Optimal Blood Pressure Treatment Thresholds Postpartum
NCT06107335	Phase 4	NOT_YET_RECRUITING	Effect of Albumin Versus Routine Care on Hemodynamic Response and Stability in Patients With Preeclampsia Guided by a Non-invasive Hemodynamic Monitoring System During Cesarean Delivery With Spinal Anesthesia
NCT06281665	Phase 4	RECRUITING	Treatment With Aspirin After Preeclampsia: TAP Trial
NCT06359015	Phase 4	TERMINATED	Metformin and Esomeprazole in Preterm Pre-eclampsia
NCT06468202	Phase 4	RECRUITING	Effectiveness of Two Aspirin Doses for Prevention of Hypertensive Disorders of Pregnancy: ASPIRIN TRIAL
NCT06632379	Phase 4	RECRUITING	AtorvaStatin Postpartum and Reduction of Cardiovascular risK
NCT06785116	Phase 4	RECRUITING	A Randomized, Placebo-controlled Trial of DAPAgliflozin (DAPA) for Cardiovascular Risk Reduction in the Postpartum Period of Hypertensive Pregnancies (HP)
NCT07167862	Phase 4	NOT_YET_RECRUITING	Optimizing Preeclampsia Postpartum With Point-of-care Ultrasound
NCT07288801	Phase 4	RECRUITING	Vitamin D for Preventing Recurrent Preeclampsia in Pregnant Women
NCT07293728	Phase 4	NOT_YET_RECRUITING	A Randomized Feasibility Trial Comparing Drospirenone and Norethindrone for Postpartum Hypertension Management in Preeclampsia
NCT07361679	Phase 4	RECRUITING	LDA and LMWH vs LDA Alone in High-risk Patients for Preeclampsia Prevention
NCT07448597	Phase 4	RECRUITING	Progesterone Preeclampsia
NCT07510568	Phase 4	NOT_YET_RECRUITING	Vitamin D Supplementation Among Pregnant Women in Uganda for the Prevention of Hypertensive Disorders in Pregnancy, and Other Adverse Maternal and Foetal Outcomes
NCT07717931	Phase 4	COMPLETED	Vitamin D Therapy to Prevent Recurrent Preeclampsia in High-Risk Pregnancies
NCT07779057	Phase 4	RECRUITING	Comparison of High- Versus Low-Dose Aspirin for Pregnancy Outcomes in Women at High Risk of Preeclampsia
NCT07793760	Phase 4	NOT_YET_RECRUITING	Dexamethasone Versus Ondansetron for Preventing Post-Spinal Hypotension in Preeclampsia
NCT00000534	Phase 3	COMPLETED	Calcium for Pre-Eclampsia Prevention (CPEP)
NCT00097110	Phase 3	COMPLETED	RCT of Antioxidant Therapy to Prevent Preeclampsia in Brazil
NCT00135707	Phase 3	COMPLETED	Combined Antioxidant and Preeclampsia Prediction Studies (CAPPS)
NCT00157521	Phase 3	COMPLETED	L-Arginine in Pre-Eclampsia
NCT00197340	Phase 3	COMPLETED	Antepartum Chronic Epidural Therapy (ACET) to Improve Blood Flow to the Uterus, Placenta and Baby in Pre-Eclampsia and Intrauterine Growth Restriction
NCT00300937	Phase 3	COMPLETED	Coenzyme Q10 Supplementation and Development of Preeclampsia
NCT00848679	Phase 3	WITHDRAWN	Investigating the Novel Observation of Right-left Difference in Uterine Artery Vascular Resistance in Pre-eclampsia