HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HLA-C
major histocompatibility complex, class I, C
Chromosome 6 · 6p21.33
NCBI Gene: 3107Ensembl: ENSG00000204525.19HGNC: HGNC:4933UniProt: O19617
1,109PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of natural killer cell mediated cytotoxicityGO:0005615receptor ligand activitycell surfaceCOVID-19psoriasisdiffuse large B-cell lymphomaneoplasm
✦AI Summary

HLA-C is a major histocompatibility complex class I molecule that functions as a critical regulator of adaptive and innate immune responses. As an antigen-presenting molecule, HLA-C presents peptide antigens to CD8+ T cells, triggering cytotoxic responses against pathogens such as CMV 1. HLA-C also serves as a ligand for killer immunoglobulin-like receptors (KIR) on natural killer cells, providing inhibitory signals that fine-tune NK cell lytic activity through cis interactions 2. This tuning mechanism is evolutionarily conserved and controls NK cell activation based on HLA-C expression levels and allelic variants. HLA-C polymorphisms have significant disease relevance. Specific HLA-C/KIR allele combinations increase susceptibility to HPV infection and cervical lesions 3. In HIV-1 transmission, HLA-C*15 acts as a protective allele while HLA-C*07 increases transmission risk 4. Additionally, pathogens including varicella-zoster virus exploit HLA-C by sequestering it to the Golgi complex to evade immune presentation 5. HLA-C/KIR interactions also influence reproductive outcomes, where specific combinations affect NK cell function at the maternal-fetal interface 6. Clinically, HLA-C typing may serve as a risk marker for HPV-related disease progression and could inform population-specific vaccine strategies against HIV-1 4. Understanding HLA-C diversity and expression patterns is essential for predicting infectious disease outcomes and designing immunotherapeutic interventions.

Sources cited
1
HLA-C provides inhibitory signals to NK cells through KIR interactions; expression levels are controlled by NK-specific promoter and fine-tune NK lytic activity
PMID: 32219494
2
HLA-C/KIR allele combinations influence HPV infection susceptibility and cervical lesion development
PMID: 25188020
3
HLA-C polymorphisms affect HIV viral load set-points, disease progression, and transmission
PMID: 27620973
4
HLA-C*15 is protective while HLA-C*07 increases susceptibility to HIV-1 mother-to-child transmission
PMID: 30128812
5
VZV IE4 protein sequesters HLA-C to Golgi complex, downregulating surface MHC-I presentation
PMID: 39725803
6
HLA-C presents antigens to CD8+ T cells and NK cells; associated with autoimmune disorders, cancers, and chronic infections
PMID: 21355865
7
HLA-C/KIR combinations at maternal-fetal interface regulate NK cell function and influence pregnancy outcomes
PMID: 34780395
Disease Associationsⓘ21
COVID-19Open Targets
0.49Moderate
psoriasisOpen Targets
0.40Weak
diffuse large B-cell lymphomaOpen Targets
0.25Weak
neoplasmOpen Targets
0.10Weak
psoriatic arthritisOpen Targets
0.10Weak
cancerOpen Targets
0.10Suggestive
autoimmune diseaseOpen Targets
0.08Suggestive
heart failureOpen Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
endometriosisOpen Targets
0.08Suggestive
immune system diseaseOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
mesotheliomaOpen Targets
0.08Suggestive
type II hypersensitivity reaction diseaseOpen Targets
0.08Suggestive
pemphigus vulgarisOpen Targets
0.07Suggestive
idiopathic membranous glomerulonephritisOpen Targets
0.07Suggestive
Morvan syndromeOpen Targets
0.07Suggestive
C1 inhibitor deficiencyOpen Targets
0.07Suggestive
infectionOpen Targets
0.07Suggestive
Psoriasis 1UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HLA-DRAProtein interaction100%DYNLT1Protein interaction100%HLA-DQB1Protein interaction100%HLA-DRB1Protein interaction100%HLA-DMAProtein interaction99%HLA-DQA1Protein interaction99%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
59%
Liver
32%
Ovary
20%
Brain
15%
Heart
13%
Gene Interaction Network
Click a node to explore
HLA-CHLA-DRADYNLT1HLA-DQB1HLA-DRB1HLA-DMAHLA-DQA1
PROTEIN STRUCTURE
Preparing viewer…
PDB6JTO · 1.70 Å · X-ray
View on RCSB ↗
RankingsWhere HLA-C stands among ~20K protein-coding genes
  • #135of 20,598
    Most Researched1,109 · top 1%
Genes detectedHLA-C
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Tuning of human NK cells by endogenous HLA-C expression.
PMID: 32219494
Immunogenetics · 2020
1.00
2
Interaction between Smoking and HLA-C*06:02 on the Response to Ustekinumab in Psoriasis.
PMID: 32014510
J Invest Dermatol · 2020
0.92
3
Implication of HLA-C and KIR alleles in human papillomavirus infection and associated cervical lesions.
PMID: 25188020
Viral Immunol · 2014
0.90
4
HLA-C locus and genetic susceptibility to psoriatic arthritis in Romanian population.
PMID: 21388355
Tissue Antigens · 2011
0.90
5
Functional expression of HLA-C blank antigens on human blood lymphocytes.
PMID: 2246509
J Immunol · 1990
0.88