HLA-A

Chr 6

major histocompatibility complex, class I, A

Also known as: HLAA

HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}MIM #608579
12
Active trials
7166
Pubs (1 yr)
P/LP submissions
P/LP missense
0.75
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.75LOEUF
pLI 0.001
Z-score 2.36
OE 0.42 (0.240.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.10Z-score
OE missense 1.02 (0.911.14)
214 obs / 210.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.42 (0.240.75)
00.351.4
Missense OE?1.02 (0.911.14)
00.61.4
Synonymous OE?0.92
01.21.6
LoF obs/exp: 8 / 19.1Missense obs/exp: 214 / 210.1Syn Z: 0.62

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HLA-A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Acute Lymphoblastic LeukemiaLeukemia, Acute Myeloid (AML), ChildLymphoma, Non-Hodgkin

Study of Gene Modified Donor T-cells Following TCR Alpha Beta Positive Depleted Stem Cell Transplant

ACTIVE NOT RECRUITING
NCT03301168Phase PHASE1, PHASE2Bellicum PharmaceuticalsStarted 2014-04
BPX-501 T cellsRimiducid
Aging

Sex-Speciffic Longevity Food Supplements

ACTIVE NOT RECRUITING
NCT07404449Phase PHASE1University of PrimorskaStarted 2026-03-07
compound food supplements - female specificcompound food supplements - male specificPlacebo
Solid Tumor Malignancies

GKL-006Allo Injection in Patients With Advanced Solid Tumors

NOT YET RECRUITING
NCT07704515Phase PHASE1Beijing Gene Key Life Technology Co., LtdStarted 2026-08-30
GKL-006Allo Injection
AutophagyGalectinsHIV Infections

Study of Autophagy and the Effects of GALIG Gene Products in HIV-1 Infected Patients Who Are Under Antiretroviral Therapy Since Primary-infection, Chronic Phase, or Never Treated.

RECRUITING
NCT04160455Centre Hospitalier Régional d'OrléansStarted 2019-11-07
expression of a panel
Kidney Transplant

Alloreactive Memory B Lymphocytes and Anti-HLA Sensitization

RECRUITING
NCT07011238University Hospital, RouenStarted 2023-04-17
Patients meeting HLA immunization criteria
Liver DiseasesLiver CancerLiver Cirrhosis

CRISPR-Edited HLA Donor Liver Transplant to Reduce Rejection

RECRUITING
NCT07053488Phase PHASE1, PHASE2AMERICAN ORGAN TRANSPLANT AND CANCER RESEARCH INSTITUTE LLCStarted 2025-06-01
Ex Vivo CRISPR-Cas9 Gene Editing of Donor Liver
Diabetic Foot Ulcer (DFU)Venous Leg Ulcer (VLU)

Safety and Preliminary Efficacy of TrophiPatch, an Adipose-Derived Stromal Cell Patch for Chronic Leg Ulcers

RECRUITING
NCT07048054Phase PHASE1, PHASE2Nicolò BrembillaStarted 2025-07
TrophiPatch: allogeneic adipose-derived stromal cell patch
Acute Myeloid LeukemiaMinimal Residual DiseaseNatural Killer Cell

Infusion of Alloreactive nk Cells for Mrd-positive Aml Patients

RECRUITING
NCT06885476Phase NAIRCCS Azienda Ospedaliero-Universitaria di BolognaStarted 2021-01-22
Infusion of alloreactive NK cells
Glanzmann Thrombasthenia

Multinational Glanzmann Study

NOT YET RECRUITING
NCT06204042UMC UtrechtStarted 2024-03-01
Hodgkin DiseaseNon-Hodgkin LymphomaSevere Chronic Active Epstein Barr Virus

Most Closely Matched 3rd Party Rapidly Generated LMP, BARF1 And EBNA1 Specific CTL, EBV-Positive Lymphoma (MABEL)

ACTIVE NOT RECRUITING
NCT02287311Phase PHASE1Baylor College of MedicineStarted 2015-02
MABEL CTLsCyclophosphamideFludarabine
Scar Conditions and Fibrosis of SkinScar Quality Assessment and SafetyScar Tissue

Scar Remodeling After Burn Injury Using Allogeneic Adipose-derived Stromal Cells

RECRUITING
NCT07635875Phase PHASE1, PHASE2Rigshospitalet, DenmarkStarted 2026-04-16
Allogeneic adipose-Derived Mesenchymal Stromal CellsCryostor CS10 + Ringers Lactate
SepsisSeptic Shock

Myeloid Bias in the Bone Marrow of Septic Patients and Its Correlation With Disease Severity and Prognosis: A Single-Center, Prospective Cohort Study

NOT YET RECRUITING
NCT07667153Union Hospital, Tongji Medical College, Huazhong University of Science and TechnologyStarted 2026-07-15
Bone marrow aspirate collection