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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HBD
hemoglobin subunit delta
Chromosome 11 Β· 11p15.4
NCBI Gene: 3045Ensembl: ENSG00000223609.11HGNC: HGNC:4829UniProt: A0N071
170PubMed Papers
20Diseases
0Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingblood microparticleoxygen transportoxygen carrier activitydelta-beta-thalassemiaHereditary persistence of fetal hemoglobin - beta-thalassemiaalpha thalassemia spectrumAlpha-thalassemia
✦AI Summary

I cannot provide an accurate gene function summary for HBD (hemoglobin subunit delta) based on the provided abstracts. The PubMed abstracts discuss human beta-defensins (hBD-1, hBD-2, hBD-3, hBD-4), which are antimicrobial peptides encoded by genes on chromosome 11, not hemoglobin subunit delta on chromosome 11. These defensins function as antimicrobial peptides with activity against bacteria and fungi 12, and are expressed in epithelial cells and leukocytes as part of innate immunity 34. While the NCBI and UniProt data indicate HBD encodes a hemoglobin protein involved in oxygen transport and heme binding, none of the provided abstracts support claims about hemoglobin function. The abstracts appear to be mismatched with the gene query, discussing antimicrobial defensin peptides rather than hemoglobin biology. To provide an accurate summary of HBD hemoglobin subunit delta function, abstracts specifically addressing hemoglobin structure, oxygen-binding kinetics, and hemoglobin-related disorders would be required.

Sources cited
1
Documents HBD-2 (human beta-defensin-2) as an antimicrobial peptide with activity against Gram-negative bacteria and Candida
PMID: 10404637
2
Discusses mammalian beta-defensins as antimicrobial peptides with structural and functional classification
PMID: 15821901
3
Describes hBD-1 and hBD-2 expression in intestinal epithelium as components of epithelial innate immunity
PMID: 10586069
4
Documents hBD-1 and hBD-2 presence in cerumen and external auditory canal skin for microbial defense
PMID: 18608002
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
delta-beta-thalassemiaOpen Targets
0.68Moderate
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.39Weak
alpha thalassemia spectrumOpen Targets
0.35Weak
Alpha-thalassemiaOpen Targets
0.35Weak
anemiaOpen Targets
0.35Weak
beta-thalassemia HBB/LCRBOpen Targets
0.35Weak
Abnormal hemoglobinOpen Targets
0.34Weak
Persistence of hemoglobin FOpen Targets
0.34Weak
Reduced beta/alpha synthesis ratioOpen Targets
0.34Weak
glucocorticoid-remediable aldosteronismOpen Targets
0.27Weak
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.20Weak
ThalassemiaOpen Targets
0.17Weak
Blackfan-Diamond anemiaOpen Targets
0.09Suggestive
inherited hemoglobinopathyOpen Targets
0.08Suggestive
familial hemolytic anemiaOpen Targets
0.07Suggestive
inosine triphosphatase deficiencyOpen Targets
0.07Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.07Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.07Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
Pathogenic Variants13
NM_000519.3(HBD):c.410G>A (p.Gly137Asp)Pathogenic
HEMOGLOBIN A(2) BABINGA|not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 137
NM_000519.4(HBD):c.316-2A>GPathogenic
delta Thalassemia|not provided|Hepatocellular carcinoma
β˜…β˜†β˜†β˜†2019
NM_000519.4(HBD):c.226C>G (p.Leu76Val)Pathogenic
delta Thalassemia|HEMOGLOBIN A(2) GROVETOWN
β˜†β˜†β˜†β˜†2017β†’ Residue 76
NC_000011.10:g.5234514T>CPathogenic
Delta-plus-thalassemia
β˜†β˜†β˜†β˜†2005
NM_000518.4(HBB):c.-7305_92+16delPathogenic
Hemoglobin Lepore trait
β˜†β˜†β˜†β˜†2005
NC_000011.10:g.5234559T>APathogenic
delta Thalassemia
β˜†β˜†β˜†β˜†2002
NM_000519.4(HBD):c.315+6T>APathogenic
delta Thalassemia
β˜†β˜†β˜†β˜†2002
NM_000519.4(HBD):c.113G>A (p.Trp38Ter)Pathogenic
Delta-0-thalassemia
β˜†β˜†β˜†β˜†1994β†’ Residue 38
NC_000011.10:g.5234560A>GPathogenic
delta Thalassemia
β˜†β˜†β˜†β˜†1992
NC_000011.10:g.5232765C>TPathogenic
delta Thalassemia
β˜†β˜†β˜†β˜†1992
NM_000519.4(HBD):c.92G>C (p.Arg31Thr)Pathogenic
delta Thalassemia
β˜†β˜†β˜†β˜†1992β†’ Residue 31
NM_000519.4(HBD):c.179del (p.Lys60fs)Pathogenic
Delta-0-thalassemia
β˜†β˜†β˜†β˜†1991β†’ Residue 60
NC_000011.10:g.5226638_5234052delPathogenic
Hemoglobin Lepore trait
β˜†β˜†β˜†β˜†1987
View on ClinVar β†—
Related Genes
HBE1Shared pathway100%ALAS2Protein interaction99%EPB42Protein interaction99%HBA2Protein interaction99%DEFB103AProtein interaction95%AHSPProtein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
0%
Liver
0%
Brain
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
HBDHBE1ALAS2EPB42HBA2DEFB103AAHSP
PROTEIN STRUCTURE
Preparing viewer…
PDB1SHR Β· 1.88 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.59LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.97 [0.61–1.59]
RankingsWhere HBD stands among ~20K protein-coding genes
  • #2,601of 20,598
    Most Researched170 Β· top quartile
  • #2,574of 5,498
    Most Pathogenic Variants13
  • #15,607of 17,882
    Most Constrained (LOEUF)1.59
Genes detectedHBD
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Human Ξ²-defensin-3 attenuates atopic dermatitis-like inflammation through autophagy activation and the aryl hydrocarbon receptor signaling pathway.
PMID: 35834333
J Clin Invest Β· 2022
1.00
2
Human beta-defensin-2.
PMID: 10404637
Int J Biochem Cell Biol Β· 1999
1.00
3
Human defensins.
PMID: 15821901
J Mol Med (Berl) Β· 2005
0.90
4
Human beta-defensin 1 circulating level and gene polymorphism in non-segmental vitiligo Egyptian patients.
PMID: 36535830
An Bras Dermatol Β· 2023
0.80
5
Antimicrobial peptides human beta-defensin (hBD)-3 and hBD-4 activate mast cells and increase skin vascular permeability.
PMID: 17230440
Eur J Immunol Β· 2007
0.72