Seroatlas · Human Serome Atlas

HBD

Hemoglobin subunit delta

Also known as: HBD_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P02042
Gene: HBD
Ensembl: ENSG00000223609
Chromosome: 11
Canonical length: 147 aa
Protein class: Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

147 residues, UniProt reviewed canonical sequence.

>P02042|HBD
     1  MVHLTPEEKT AVNALWGKVN VDAVGGEALG RLLVVYPWTQ RFFESFGDLS SPDAVMGNPK
    61  VKAHGKKVLG AFSDGLAHLD NLKGTFSQLS ELHCDKLHVD PENFRLLGNV LVCVLARNFG
   121  KEFTPQMQAA YQKVVAGVAN ALAHKYH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HBD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 2,634 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 2,634 nTPM
spleen: 62 nTPM
placenta: 18 nTPM
tongue: 11 nTPM
liver: 9.7 nTPM
lung: 8.4 nTPM

Single-cell type

erythrocytes: 2,629 nCPM
erythrocyte progenitors: 1,339 nCPM
megakaryocyte progenitors: 332 nCPM
megakaryocyte-erythroid progenitors: 247 nCPM
megakaryocytes: 130 nCPM
platelets: 88 nCPM

Immune cell

total PBMC: 105 nTPM
neutrophil: 2.3 nTPM
eosinophil: 2.1 nTPM
plasmacytoid DC: 1.6 nTPM
basophil: 0.4 nTPM
classical monocyte: 0.2 nTPM

Brain region

cerebral cortex: 5.1 nTPM
white matter: 1.4 nTPM
cerebellum: 1.2 nTPM
choroid plexus: 0.8 nTPM
pons: 0.8 nTPM
basal ganglia: 0.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HBD.

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 81 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

delta Thalassemia
Delta-0-thalassemia
Hemoglobin Lepore trait
HEMOGLOBIN A(2) BABINGA
Hepatocellular carcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.93
gnomAD pLI: 0
gnomAD missense Z: -1.01
DepMap mean gene effect: 0.08
DepMap dependency class: none

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HBD as an antibody target. Whether an autoantibody or antibody against HBD could matter depends on whether native HBD is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HBD is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label HBD as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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