HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MANF
mesencephalic astrocyte derived neurotrophic factor
Chromosome 3 · 3p21.2
NCBI Gene: 7873Ensembl: ENSG00000145050.19HGNC: HGNC:15461UniProt: A8K878
109PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulum lumennucleusendoplasmic reticulumsulfatide bindingdiabetes, deafness, developmental delay, and short stature syndromeneurodegenerative diseaseAbnormality of the skeletal systemCerebro-costo-mandibular syndrome
✦AI Summary

MANF (mesencephalic astrocyte-derived neurotrophic factor) is a multifunctional protein that serves as both an endoplasmic reticulum (ER)-resident chaperone and a secreted neurotrophic factor. MANF selectively promotes survival of dopaminergic neurons and modulates GABAergic transmission in the substantia nigra 1. The protein functions as a critical regulator of ER stress responses by stabilizing HSPA5/BiP in its substrate-bound state and repressing the unfolded protein response pathway under normal conditions 2. Under stress conditions, MANF is upregulated and secreted, where it binds to sulfatide receptors on target cells to alleviate ER stress and cell toxicity 2. MANF exhibits significant therapeutic potential in metabolic diseases, with circulating levels dynamically regulated in diabetes, obesity, and cardiovascular diseases 3. In cancer, MANF facilitates cell survival under glucose starvation by regulating PRKN-mediated mitophagy and promoting fatty acid oxidation 4. The protein also modulates immune responses by competitively binding S100A8 to inhibit TLR4-NF-κB signaling and regulate macrophage phenotypes 5. Clinically, MANF shows promise as a biomarker and therapeutic target for various diseases including immune checkpoint inhibitor myocarditis, hepatic fibrosis, and intrahepatic cholangiocarcinoma 657.

Sources cited
1
MANF selectively promotes survival of dopaminergic neurons and has neuroprotective activity for midbrain dopamine neurons
PMID: 22166416
2
MANF is an ER-resident protein that stabilizes HSPA5/BiP and represses the unfolded protein response pathway
PMID: 36272696
3
MANF circulating levels are dynamically regulated in metabolic diseases and shows therapeutic potential
PMID: 35135706
4
MANF facilitates cancer cell survival under glucose starvation via PRKN-mediated mitophagy regulation
PMID: 39147386
5
MANF modulates immune responses by competitively binding S100A8 to inhibit TLR4-NF-κB signaling
PMID: 37799387
6
MANF is involved in immune checkpoint inhibitor myocarditis with sex-specific effects
PMID: 36322628
7
MANF serves as a biomarker for intrahepatic cholangiocarcinoma and promotes hepatocyte transformation
PMID: 39972058
Disease Associationsⓘ21
diabetes, deafness, developmental delay, and short stature syndromeOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
Abnormality of the skeletal systemOpen Targets
0.45Moderate
Cerebro-costo-mandibular syndromeOpen Targets
0.30Weak
obesityOpen Targets
0.17Weak
smoking behaviorOpen Targets
0.15Weak
liver diseaseOpen Targets
0.14Weak
multinodular goiterOpen Targets
0.14Weak
major depressive disorderOpen Targets
0.14Weak
dysthymic disorderOpen Targets
0.14Weak
asthmaOpen Targets
0.11Weak
Alzheimer diseaseOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Suggestive
Parkinson diseaseOpen Targets
0.10Suggestive
intrahepatic cholangiocarcinomaOpen Targets
0.09Suggestive
strokeOpen Targets
0.09Suggestive
septic shockOpen Targets
0.09Suggestive
gliomaOpen Targets
0.09Suggestive
cryopyrin-associated periodic syndromeOpen Targets
0.08Suggestive
Diabetes, deafness, developmental delay, and short stature syndromeUniProt
Pathogenic Variants3
NM_006010.6(MANF):c.94+1G>TLikely pathogenic
Diabetes, deafness, developmental delay, and short stature syndrome|Cerebro-costo-mandibular syndrome
★☆☆☆2025
NM_006010.6(MANF):c.15G>A (p.Trp5Ter)Likely pathogenic
Diabetes, deafness, developmental delay, and short stature syndrome
★☆☆☆2025→ Residue 5
NM_006010.6(MANF):c.73_85del (p.Leu25fs)Pathogenic
Diabetes, deafness, developmental delay, and short stature syndrome
☆☆☆☆2023→ Residue 25
View on ClinVar ↗
Related Genes
HYOU1Protein interaction94%CRELD2Protein interaction94%PDIA4Protein interaction89%SDF2L1Protein interaction89%DNAJB11Protein interaction89%HSP90B1Protein interaction87%
Tissue Expression6 tissues
Liver
100%
Lung
47%
Bone Marrow
30%
Heart
26%
Ovary
25%
Brain
17%
Gene Interaction Network
Click a node to explore
MANFHYOU1CRELD2PDIA4SDF2L1DNAJB11HSP90B1
PROTEIN STRUCTURE
Preparing viewer…
PDB2W51 · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.54 [0.33–0.95]
RankingsWhere MANF stands among ~20K protein-coding genes
  • #4,361of 20,598
    Most Researched109 · top quartile
  • #3,981of 5,498
    Most Pathogenic Variants3
  • #8,875of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedMANF
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
MANF facilitates breast cancer cell survival under glucose-starvation conditions via PRKN-mediated mitophagy regulation.
PMID: 39147386
Autophagy · 2025
1.00
2
MANF brakes TLR4 signaling by competitively binding S100A8 with S100A9 to regulate macrophage phenotypes in hepatic fibrosis.
PMID: 37799387
Acta Pharm Sin B · 2023
0.90
3
Hormonal therapies up-regulate MANF and overcome female susceptibility to immune checkpoint inhibitor myocarditis.
PMID: 36322628
Sci Transl Med · 2022
0.80
4
MANF: an emerging therapeutic target for metabolic diseases.
PMID: 35135706
Trends Endocrinol Metab · 2022
0.70
5
Mesencephalic astrocyte-derived neurotrophic factor (MANF): Structure, functions and therapeutic potential.
PMID: 36272696
Ageing Res Rev · 2022
0.60