Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3045
Gene name Gene Name - the full gene name approved by the HGNC.	Hemoglobin subunit delta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HBD
Synonyms (NCBI Gene) Gene synonyms aliases	HBK
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p15.4
Summary Summary of gene provided in NCBI Entrez 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

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
rs35518301	T>C	Pathogenic	Upstream transcript variant
rs35654785	C>G	Pathogenic	Coding sequence variant, missense variant
rs35661168	T>A	Pathogenic	Upstream transcript variant
rs35887507	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs63750345	A>T	Pathogenic	Intron variant

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
ELF4	Activation	15286431

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
GO:0005833	Component	Hemoglobin complex	IEA
GO:0005833	Component	Hemoglobin complex	IPI	15449937
GO:0005833	Component	Hemoglobin complex	TAS	7555018
GO:0015670	Process	Carbon dioxide transport	NAS	15449937
GO:0015671	Process	Oxygen transport	IBA
GO:0015671	Process	Oxygen transport	IDA	11307949
GO:0015671	Process	Oxygen transport	IEA
GO:0019825	Function	Oxygen binding	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0031721	Function	Hemoglobin alpha binding	IBA
GO:0031838	Component	Haptoglobin-hemoglobin complex	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048821	Process	Erythrocyte development	IBA
GO:0072562	Component	Blood microparticle	HDA	22516433

MIM	HGNC	e!Ensembl
142000	4829	ENSG00000223609

Protein

UniProt ID

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

MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPK
VKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFG
KEFTPQMQAAYQKVVAGVANALAHKYH

Sequence length

147

Interactions

View interactions

	Reactome
			Factors involved in megakaryocyte development and platelet production

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Delta-Thalassemia	Delta-plus-thalassemia, Delta-0-thalassemia, delta Thalassemia	rs35518301, rs34224604, rs35324967, rs35654785, rs34975911, rs36023765, rs35887507, rs63750345, rs35661168	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Delta-Beta Thalassemia	delta-beta-thalassemia	N/A	N/A	GenCC
Hyperaldosteronism	glucocorticoid-remediable aldosteronism	N/A	N/A	ClinVar
thalassemia	Thalassemia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
delta Thalassemia	Associate	1309671, 1515647, 1742490, 25858298, 2759233, 32901995, 37548329, 6292847, 6323412
Diabetes Mellitus Type 2	Associate	36339449
Distal myopathy Nonaka type	Inhibit	37797812
Fetal Diseases	Associate	6179097
Glycogen Storage Disease 0 Muscle	Associate	17222202
Growth Disorders	Associate	28007020
Hemoglobinopathies	Associate	21220744, 22028795, 35741722, 6275383
Inflammation	Associate	26694100
Inflammatory Bowel Diseases	Associate	21042595
Intrahepatic Cholestasis of Pregnancy	Associate	37054625
Malaria	Associate	26516624
Multiple Sclerosis	Associate	34504491
Neoplasms	Associate	24732135
Neoplasms	Stimulate	33955587
Neoplastic Syndromes Hereditary	Associate	6159595
Neoplastic Syndromes Hereditary	Stimulate	8474108
Obesity	Associate	26694100, 29132311
Osteoporosis	Associate	37874452
Primary Myelofibrosis	Associate	33686952
Syndrome	Associate	35741722
Thalassemia	Associate	1742490, 26516624, 31044540, 34828427, 37548329, 40140352

HBD (hemoglobin subunit delta)