1. Gene
  2. HBD - hemoglobin subunit delta Gene

HBD - hemoglobin subunit delta Gene

中文名称:血红蛋白亚基δ

种属: Homo sapiens

基因 ID: 3045 | 基因类型: protein coding

关于 HBD

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:5,232,838-5,234,483 (from NCBI)

This gene has 5 transcripts (splice variants), 526 orthologues, 11 paralogues and is associated with 2 phenotypes.

功能概要

δ (HBD) 和β (HBB) 基因通常在成人中表达:两条α链加上两条β链构成 HbA,在正常成人生活中约占总血红蛋白的 97%。两条 α 链加上两条 δ 链构成 HbA-2,它与 HbF 一起构成成人血红蛋白的剩余 3%。在 11 号染色体上的一个 45 kb 簇内发现了五个类 β 珠蛋白基因,顺序如下:5'-epsilon--Ggamma--Agamma--delta--beta-3'。 δ-珠蛋白基因突变与β-地中海贫血有关。[RefSeq 提供,2008 年 7 月]

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]

HBD 基因产物(1)

mRNA Protein Name
NM_000519.4 NP_000510.1 hemoglobin subunit delta

HBD 蛋白结构

Globin

Globin: Globin (8 - 112)

  • 0
  • 100
  • 147 a.a.
蛋白主名 其他名称

hemoglobin subunit delta

delta globin

关联疾病

疾病名称 别名
Hemoglobin Lepore-Beta-Thalassemia Syndrome

Hblepore-Beta-Thalassemia Syndrome

Lepore-Beta-Thalassemia Syndrome

Fetal Hemoglobin Quantitative Trait Locus 1

Hereditary Persistence Of Fetal Hemoglobin

Delta-Beta-Thalassemia

Delta-Beta Thalassemia

Delta Beta-Thalassemia

HBFQTL1

Hemoglobin F, Hereditary Persistence Of

Hpfh

Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related

Hemoglobin, Fetal, Quantitative Trait Locus 1

Hereditary Persistence Of Fetal Hemoglobin Thalassemia

Hpfh - [Hereditary Persistence Of Fetal Haemoglobin]

Fetal Haemoglobin

Persistence Of Fetal Haemoglobin

Persistent Haemoglobin F

Thalassemia

Sickle-Cell Thalassemia With Crisis

Sickle-Cell Thalassemia Without Crisis

Thalassemia Hb-S Disease With Crisis

Thalassemia Hb-S Disease Without Crisis

Thalassemias

Hereditary Leptocytosis

Haemoglobin Thalassaemia Disorder

Thalassaemia Syndrome

Thalassaemia Nos

Thalassemia Variants

Beta-Thalassemia

Beta Thalassemia

Cooley'S Anemia

Mediterranean Anemia

Beta Thalassemia Intermedia

Erythroblastic Anemia

Thalassemia, Hispanic Gamma-Delta-Beta

Thalassemia Major

Thalassemia Minor

Beta-Plus-Thalassemia

Thalassemia, Beta

Beta Thalassemia Major

Beta Thalassemia Minor

Thalassemias, Beta-

Microcytemia, Beta Type

Thalassemia, Beta Type

B-THAL

Mediterranean Anaemia

Beta Thalassaemia Syndrome

Mediterranean Disease

Beta Thalassaemia Disease

Middle Lobe Syndrome
Hemoglobin D Disease

Hb-D Disease

Punjab Disease

Los Angeles Disease

Hb D Los Angeles Disease

Hb D Punjab Disease

Sickle Cell Disease

Hbs Disease

Hemoglobin S Disease

Scd

Sickle Cell Disorders

Sickling Disorder Due To Hemoglobin S

Anemia, Sickle Cell

Hb-Ss Disease Without Crisis

Hbss Without Crisis

Sickle-Cell Anaemia Without Crisis

Scd - [Sickle Cell Disease]

Sca - [Sickle Cell Anaemia]

Sickle Cell Disease Nos

Sickle Cell Disorder

Sickle Cell Syndrome

Sickle-Cell Anaemia Nos

Sickle-Cell Disorder Nos

Haemoglobin S Disease

Haemoglobin Ss Disease

Hb S Disease

Hb Ss Disease

Herrick Anaemia

Hereditary Haemoglobinopathy Disorder Homozygous For Haemoglobin S

Sickle-Cell Haemoglobin Disease

Sickling Disorder Due To Haemoglobin S

Hb-Ss Disease With Crisis

Sickle Cell Crisis

Sickle-Cell Disorder With Crisis

Sickle-Cell Anaemia With Crisis

Hbss With Crisis

Hb S Disease With Mention Of Crisis

Haemoglobin Ss Disease With Crisis

Hb-Ss Disease With Vaso-Occlusive Pain

Vaso-Occlusive Crisis

Hemoglobin E Disease

Hemoglobin E

Hb-E Disease

Hemoglobin C Disease

Hb C Disease

Hemoglobin C

Hb-C Disease

Gastrojejunal Ulcer

Acute Gastrojejunal Ulcer With Hemorrhage

Acute Gastrojejunal Ulcer With Hemorrhage And Obstruction

Acute Gastrojejunal Ulcer With Hemorrhage And Perforation

Acute Gastrojejunal Ulcer With Hemorrhage And Perforation, With Obstruction

Acute Gastrojejunal Ulcer With Hemorrhage, With Perforation And With Obstruction

Acute Gastrojejunal Ulcer With Perforation

Acute Gastrojejunal Ulcer With Perforation And Obstruction

Acute Gastrojejunal Ulcer With Perforation, With Obstruction

Acute Gastrojejunal Ulcer Without Hemorrhage And Without Perforation

Acute Gastrojejunal Ulcer Without Hemorrhage, Without Perforation And Without Obstruction

Acute Gastrojejunal Ulcer Without Mention Of Hemorrhage Or Perforation, Without Mention Of Obstruction

Acute Gastrojejunal Ulcer, With Hemorrhage, With Obstruction

Chronic Gastrojejunal Ulcer Without Hemorrhage And Without Perforation

Chronic Gastrojejunal Ulcer Without Hemorrhage, Without Perforation And Without Obstruction

Chronic Gastrojejunal Ulcer Without Mention Of Hemorrhage Or Perforation, Without Mention Of Obstruction

Marginal Ulcer

Beta-Thalassemia Major

Cooley'S Anemia

Cooley Anemia

Mediterranean Anemia

Thalassemia Minor
Congenital Hemolytic Anemia

Anemia Hemolytic Congenital

Anemia, Hemolytic, Congenital

Congenital Hemolytic Anaemia

Hereditary Hemolytic Anaemia

Hereditary Hemolytic Anemia

Hemoglobinopathy

Hemoglobinopathies

Sickle Cell Anemia

Hemoglobin Sc Disease

Anemia, Sickle Cell

Hbsc Disease

Sickle Cell-Hemoglobin C Disease Syndrome

Hb Ss Disease

Sickle Cell Trait

Drepanocytosis

Haemoglobin Sc Disease

Hb Sc Disease

Hb-S/Hb-C Disease

Hb-Ss Disease Without Crisis

Hemoglobin S Disease Without Crisis

Sickle Cell Anaemia

Sickle-Cell/Hb-C Disease Without Crisis

Sickle Cell - Hemoglobin C Disease

Hbs Disease

Hemoglobin S Disease

Sickling Disorder Due To Hemoglobin S

SKCA

Sickle Cell Disease

Sickle Cell-Hemoglobin C Disease

Sickle-Cell Disease Carrier

Sickle-Cell Heterozygous Disorder

Haemoglobin A-S Genotype

Hb-S - [Sickle Cell Haemoglobin] Carrier

Sickle Cell Haemoglobin Trait

As - [Sickle Cell Trait]

Hbas - [Sickle Cell Haemoglobin Trait]

Sickle-Cell Trait Haemoglobin Disease

Haemoglobin Sickle Cell Trait Disorder

Heterozygous Sickle Cell Trait

Hbas - [Heterozygous Haemoglobin S]

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Blood Protein Disease

Blood Protein Disorders

Blood Protein Disorder

Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus HBD NCBI
Rattus norvegicus HBD NCBI