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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DNAJC27
DnaJ heat shock protein family (Hsp40) member C27
Chromosome 2 · 2p23.3
NCBI Gene: 51277Ensembl: ENSG00000115137.12HGNC: HGNC:30290UniProt: Q9NZQ0
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingGTPase activityintracellular protein transportcytoplasmic vesiclebreast cancerneurodegenerative diseaseclonal hematopoiesishypertension
✦AI Summary

DNAJC27 is a heat shock protein family member (Hsp40) with GTPase activity that functions as a molecular chaperone in cellular proteostasis. The gene encodes a J domain protein that can activate the MEK/ERK pathway and acts as a nuclear scaffold for MAPK1, enhancing ERK1/ERK2 signaling when overexpressed 1. DNAJC27 plays a role in histone chaperoning and ciliogenesis, with its J domain being essential for functional specificity 1. Regarding disease relevance, DNAJC27 has been implicated in multiple conditions. Genetic variants in DNAJC27, particularly rs713586, are associated with obesity susceptibility in both adults and preschool children, though evidence suggests the primary obesity risk mechanism may involve dysregulation of ADCY3 rather than DNAJC27 itself 2 3 4. DNAJC27 expression is elevated in obesity and may regulate appetite through modulation of MC4R-mediated cAMP signaling 2. Additionally, DNAJC27 variants show bidirectional causal associations with inflammatory bowel disease and psoriasis, suggesting involvement in immune-mediated pathology 5. The gene also demonstrates suggestive associations with Parkinson's disease in multiple subgroups 6, and height-associated variants near DNAJC27 are linked to hormone receptor-positive breast cancer risk 7.

Sources cited
1
DNAJC27 functions in histone chaperoning and ciliogenesis; its J domain is essential for functional specificity among JDPs
PMID: 33957083
2
DNAJC27 is elevated in obesity; rs17782313 MC4R variant associated with increased DNAJC27 levels and reduced cAMP formation
PMID: 32733386
3
rs713586-C risk allele reduces DNAJC27 expression but DNAJC27 knockout does not cause obesity, suggesting ADCY3 is primary target
PMID: 41494241
4
DNAJC27 rs713586 variant associated with overweight and obesity susceptibility in Han Chinese preschool children
PMID: 38604958
5
DNAJC27 identified as candidate risk gene in shared genetic basis between IBD and psoriasis through colocalization analysis
PMID: 37988718
6
DNAJC27 shows suggestive association with Parkinson's disease in multiple patient subgroups
PMID: 35715682
7
DNAJC27 locus associated with hormone receptor-positive breast cancer risk at genome-wide significance level
PMID: 26296642
Disease Associationsⓘ20
breast cancerOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.27Weak
clonal hematopoiesisOpen Targets
0.23Weak
hypertensionOpen Targets
0.19Weak
Hernia of the abdominal wallOpen Targets
0.10Weak
age-related macular degenerationOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.07Suggestive
X-linked retinal dysplasiaOpen Targets
0.07Suggestive
retinitis pigmentosaOpen Targets
0.07Suggestive
pubertyOpen Targets
0.06Suggestive
X-linked retinoschisisOpen Targets
0.05Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.05Suggestive
Sorsby's fundus dystrophyOpen Targets
0.05Suggestive
coloboma of optic nerveOpen Targets
0.05Suggestive
Familial drusenOpen Targets
0.05Suggestive
age related macular degeneration 11Open Targets
0.05Suggestive
age related macular degeneration 4Open Targets
0.05Suggestive
age related macular degeneration 6Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADCY3Protein interaction76%ADCY8Protein interaction75%FAM184AProtein interaction71%SNX15Shared pathway50%SYNRGShared pathway50%RAB28Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
92%
Ovary
86%
Brain
59%
Lung
30%
Liver
26%
Gene Interaction Network
Click a node to explore
DNAJC27ADCY3ADCY8FAM184ASNX15SYNRGRAB28
PROTEIN STRUCTURE
Preparing viewer…
PDB2YS8 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.06Tolerant
Observed/Expected LoF0.48 [0.30–0.80]
RankingsWhere DNAJC27 stands among ~20K protein-coding genes
  • #14,685of 20,598
    Most Researched18
  • #6,647of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedDNAJC27
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrated analysis of Mendelian Randomization and Bayesian colocalization reveals bidirectional causal association between inflammatory bowel disease and psoriasis.
PMID: 37988718
Ann Med · 2023
1.00
2
PMID: 32733386
Front Endocrinol (Lausanne) · 2020
0.90
3
The rs713586 risk variant dysregulates ADCY3 rather than DNAJC27, leading to obesity through ZFP42-TET1-mediated DNA methylation.
PMID: 41494241
EBioMedicine · 2026
0.80
4
[Association of polymorphisms in SEC16B, DNAJC27, FTO and MC4R genes with overweight and obesity in Han preschool children].
PMID: 38604958
Wei Sheng Yan Jiu · 2024
0.70
5
Identification and validation of ferroptosis-related lncRNA signature in intervertebral disc degeneration.
PMID: 38492610
Gene · 2024
0.60