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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HMCN1
hemicentin 1
Chromosome 1 · 1q25.3-q31.1
NCBI Gene: 83872Ensembl: ENSG00000143341.12HGNC: HGNC:19194UniProt: Q96RW7
47PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingactin cytoskeleton organizationextracellular matrix structural constituentextracellular exosomeage-related macular degenerationseborrheic keratosissubarachnoid hemorrhagetooth disease
✦AI Summary

HMCN1 (hemicentin 1) is an extracellular matrix protein involved in basement membrane organization and cell adhesion. Mechanistically, HMCN1 regulates podocyte cytoskeletal dynamics through TGF-β signaling, promoting F-actin reduction and podocyte morphological changes 1. HMCN1 physically interacts with keratin 14 (K14) and contributes to basement membrane zone (BMZ) stability; deleterious HMCN1 variants aggravate epidermolysis bullosa simplex severity by disrupting protein stability and reducing keratin intermediate filament formation 2. HMCN1 can be cleaved by ADAMTS12 metalloprotease, enabling activation of injury-responsive fibroblasts with aberrant JAK/STAT signaling during fibrogenesis 3. In cancer biology, HMCN1 mutations associate with altered tumor immunity and metabolism pathways in clear cell renal carcinoma 4, while elevated HMCN1 expression in cancer-associated fibroblasts promotes ovarian carcinoma invasiveness via RhoA signaling 5. HMCN1 mutations correlate with poor prognosis in rectal neuroendocrine tumors 6. Clinically, HMCN1 represents a genetic modifier influencing disease severity in inherited blistering disorders and a potential biomarker for cancer prognosis and immune microenvironment composition.

Sources cited
1
HMCN1 mediates TGF-β-induced podocyte cytoskeletal rearrangement
PMID: 29488390
2
HMCN1 variants cause epidermolysis bullosa simplex aggravation by binding K14 and affecting BMZ stability
PMID: 39976600
3
ADAMTS12 cleaves HMCN1 to enable injury-responsive fibroblast activation during fibrogenesis
PMID: 39286973
4
HMCN1 mutations correlate with tumor mutation burden, prognosis, and immune microenvironment in clear cell renal carcinoma
PMID: 35886066
5
HMCN1 upregulation in cancer-associated fibroblasts promotes ovarian carcinoma invasiveness via RhoA signaling
PMID: 31638245
6
HMCN1 somatic mutations associate with shorter overall survival in rectal neuroendocrine tumors
PMID: 36645718
7
HMCN1 expression affects cell migration and immune cell function in viral infection context
PMID: 39509441
Disease Associationsⓘ21
age-related macular degenerationOpen Targets
0.55Moderate
seborrheic keratosisOpen Targets
0.32Weak
subarachnoid hemorrhageOpen Targets
0.32Weak
tooth diseaseOpen Targets
0.28Weak
placenta praeviaOpen Targets
0.28Weak
male reproductive organ cancerOpen Targets
0.26Weak
body weight gainOpen Targets
0.23Weak
spondylolisthesisOpen Targets
0.22Weak
secondary malignant neoplasmOpen Targets
0.20Weak
adverse effectOpen Targets
0.19Weak
response to stimulusOpen Targets
0.19Weak
macular degenerationOpen Targets
0.19Weak
frozen shoulderOpen Targets
0.17Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
neoplasmOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
epidermolysis bullosa simplexOpen Targets
0.07Suggestive
osteosarcomaOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
Macular degeneration, age-related, 1UniProt
Pathogenic Variants1
NM_031935.3(HMCN1):c.4163del (p.Pro1388fs)Pathogenic
Age related macular degeneration 1
☆☆☆☆2015→ Residue 1388
View on ClinVar ↗
Related Genes
ARMS2Protein interaction85%C2Protein interaction71%CEACAM18Shared pathway50%CADM3Shared pathway50%CEACAM19Shared pathway50%IGSF23Shared pathway40%
Tissue Expression6 tissues
Lung
100%
Heart
50%
Liver
30%
Ovary
17%
Brain
4%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
HMCN1ARMS2C2CEACAM18CADM3CEACAM19IGSF23
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96RW7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.54Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.49 [0.44–0.54]
RankingsWhere HMCN1 stands among ~20K protein-coding genes
  • #9,216of 20,598
    Most Researched47
  • #5,119of 5,498
    Most Pathogenic Variants1
  • #3,451of 17,882
    Most Constrained (LOEUF)0.54 · top quartile
Genes detectedHMCN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ADAMTS12 promotes fibrosis by restructuring extracellular matrix to enable activation of injury-responsive fibroblasts.
PMID: 39286973
J Clin Invest · 2024
1.00
2
HMCN1 variants aggravate epidermolysis bullosa simplex phenotype.
PMID: 39976600
J Exp Med · 2025
0.90
3
Comprehensive Analysis of
PMID: 35886066
Genes (Basel) · 2022
0.80
4
HMCN1, a cell polarity-related gene, is somatically mutated in gastric and colorectal cancers.
PMID: 24912920
Pathol Oncol Res · 2015
0.70
5
Dominant neoantigen verification in hepatocellular carcinoma by a single-plasmid system coexpressing patient HLA and antigen.
PMID: 37076248
J Immunother Cancer · 2023
0.60