HBD (hemoglobin subunit delta)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3045
Gene name Hemoglobin subunit delta
Gene symbol HBD
Synonyms (NCBI Gene)
HBK
Chromosome 11
Chromosome location 11p15.4
Summary 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
SNPs SNP information provided by dbSNP.
10
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
SNP ID Visualize variation Clinical significance Consequence
rs34224604 T>- Pathogenic Coding sequence variant, frameshift variant
rs34430836 G>C Pathogenic, other Coding sequence variant, missense variant
rs34975911 A>G Pathogenic Upstream transcript variant
rs35152987 C>A,T Pathogenic, other Coding sequence variant, missense variant
rs35324967 C>A,G,T Pathogenic Downstream transcript variant
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
ELF4 Activation 15286431
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0005344 Function Oxygen carrier activity IBA
GO:0005344 Function Oxygen carrier activity IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0005829 Component Cytosol TAS
GO:0005833 Component Hemoglobin complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142000 4829 ENSG00000223609
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02042
Protein name Hemoglobin subunit delta (Delta-globin) (Hemoglobin delta chain)
Protein function Involved in oxygen transport from the lung to the various peripheral tissues.
PDB 1SHR , 1SI4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00042 Globin 8 → 112 Globin Domain
Tissue specificity TISSUE SPECIFICITY: Red blood cells.
Sequence
Sequence length 147
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
76
Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
delta Thalassemia Pathogenic rs35324967, rs35654785, rs34975911, rs36023765, rs34430836, rs63750345, rs35661168 RCV000016219
RCV000016223
RCV000016224
RCV000016225
RCV000016226
RCV000016237
RCV000016238
Delta-0-thalassemia Pathogenic rs34224604, rs35887507 RCV004797763
RCV000016229
Delta-plus-thalassemia Pathogenic rs35518301 RCV000016240
HEMOGLOBIN A(2) BABINGA Pathogenic rs35849348 RCV000016189
Show/Hide Unknown Diseases (40)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Delta-beta-thalassemia Conflicting classifications of pathogenicity rs549964658 RCV004577549
Fetal hemoglobin quantitative trait locus 1 Conflicting classifications of pathogenicity; Uncertain significance rs35152987, rs886048395, rs186432678, rs755421119, rs113727122, rs112372029, rs886048394, rs144322869, rs1042760103, rs1847687778, rs746437742, rs751533248, rs777991732, rs1454993638 RCV001107109
RCV000283247
RCV000282076
RCV000323032
RCV000379968
RCV000321973
RCV000269929
RCV000374041
RCV001107105
RCV001107106
RCV001107107
RCV001107108
RCV001107778
RCV001107779
Glucocorticoid-remediable aldosteronism Conflicting classifications of pathogenicity rs35152987 RCV003987322
HBD-related disorder Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign rs35769679, rs549964658, rs148878316, rs61746501, rs80018520 RCV003931038
RCV004758805
RCV003959366
RCV003930504
RCV003953476
Show/Hide Text Mining Associations (31)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
alpha Thalassemia Associate 32901995, 35741722
Anemia Associate 37548329
Anemia hypochromic microcytic Associate 4078867
Anemia Iron Deficiency Associate 32901995
Anemia Sickle Cell Associate 14587045
beta Thalassemia Associate 10814985, 14587045, 17222202, 22801970, 2458154, 30777047, 32068918, 32770585, 32901995, 34828427, 35741722, 40140352, 4078867, 7682618
Carcinoma Basal Cell Associate 16796735
Carcinoma Squamous Cell Associate 24732135
Colorectal Neoplasms Associate 26038828
Delta Beta Thalassemia Associate 11493481, 1520881, 1742490, 2875756, 6162860, 6179097, 6323412, 9029004