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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HMCN2
hemicentin 2
Chromosome 9 · 9q34.11
NCBI Gene: 256158Ensembl: ENSG00000148357.18HGNC: HGNC:21293UniProt: Q8NDA2
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular matrixaxon guidance receptor activityhomophilic cell-cell adhesionextracellular matrix structural constituentdiverticular diseaseInguinal herniaalcohol drinkingBarrett's esophagus
✦AI Summary

HMCN2 (hemicentin 2) is an extracellular matrix protein that functions as a structural constituent and plays roles in cell adhesion and axon guidance. Based on GO annotations, HMCN2 exhibits axon guidance receptor activity and participates in homophilic cell-cell adhesion, with localization to the extracellular matrix, plasma membrane, neuronal cell bodies, axons, and synapses where it contributes to synapse organization. The gene demonstrates significant clinical relevance across multiple disease contexts. In cardiovascular disease, HMCN2 variants near chromosome 9 show genome-wide significant association with ECG global electrical heterogeneity phenotypes, with the locus significantly associated with HMCN2 gene expression in the left ventricle 1. In periodontal disease, HMCN2 shows the second strongest association (p = 6.1 × 10-8) with severe stage III/IV grade C periodontitis diagnosed at age ≤35 years 2. The gene is also implicated in hernia susceptibility, with Japanese studies identifying HMCN2 as an important locus for genetic predisposition to inguinal hernias 3. Additionally, HMCN2 mutations are associated with hemophagocytic lymphohistiocytosis in primary bone marrow large B-cell lymphoma 4, and the gene shows correlation with CD8+ T cell infiltration and cytotoxicity in breast cancer 5. These findings suggest HMCN2 plays important roles in tissue architecture, immune responses, and disease susceptibility across multiple organ systems.

Sources cited
1
HMCN2 locus shows genome-wide significant association with ECG global electrical heterogeneity and is associated with HMCN2 gene expression in left ventricle
PMID: 29622589
2
HMCN2 shows second strongest association (p = 6.1 × 10-8) with severe periodontitis diagnosed at age ≤35 years
PMID: 38140892
3
HMCN2 identified as important locus for genetic predisposition to inguinal hernias in Japanese population
PMID: 39140953
4
HMCN2 mutations associated with hemophagocytic lymphohistiocytosis in primary bone marrow large B-cell lymphoma
PMID: 40774060
5
HMCN2 correlated with CD8+ T cell infiltration and cytotoxicity in breast cancer
PMID: 35046993
Disease Associationsⓘ20
diverticular diseaseOpen Targets
0.53Moderate
Inguinal herniaOpen Targets
0.48Moderate
alcohol drinkingOpen Targets
0.37Weak
Barrett's esophagusOpen Targets
0.27Weak
hypertrophic cardiomyopathyOpen Targets
0.26Weak
endocrine system diseaseOpen Targets
0.25Weak
asthmaOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.23Weak
diabetic ketoacidosisOpen Targets
0.22Weak
benign chondrogenic neoplasmOpen Targets
0.07Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.06Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.06Suggestive
Blackfan-Diamond anemiaOpen Targets
0.06Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.05Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.05Suggestive
delta-beta-thalassemiaOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYOTShared pathway75%CNTN6Shared pathway50%MYPNShared pathway40%EMBShared pathway40%PCDHGC4Shared pathway40%PCDHGC5Shared pathway40%
Tissue Expression6 tissues
Heart
100%
Lung
36%
Liver
18%
Ovary
10%
Brain
3%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HMCN2MYOTCNTN6MYPNEMBPCDHGC4PCDHGC5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NDA2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.76–0.94]
RankingsWhere HMCN2 stands among ~20K protein-coding genes
  • #16,185of 20,598
    Most Researched13
  • #8,735of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedHMCN2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic characteristics of primary bone marrow large B-cell lymphoma.
PMID: 40774060
Pathol Res Pract · 2025
1.00
2
Transcriptomic Heterogeneity of Alzheimer's Disease Associated with Lipid Genetic Risk.
PMID: 32862331
Neuromolecular Med · 2020
0.90
3
OH2 oncolytic virus: A novel approach to glioblastoma intervention through direct targeting of tumor cells and augmentation of anti-tumor immune responses.
PMID: 38537773
Cancer Lett · 2024
0.80
4
Mutational Signature and Integrative Genomic Analysis of Human Papillomavirus-Associated Penile Squamous Cell Carcinomas from Latin American Patients.
PMID: 35884575
Cancers (Basel) · 2022
0.70
5
Genome-Wide Associations of Global Electrical Heterogeneity ECG Phenotype: The ARIC (Atherosclerosis Risk in Communities) Study and CHS (Cardiovascular Health Study).
PMID: 29622589
J Am Heart Assoc · 2018
0.60