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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in oxygen transport	IDA IDA: 通过直接分析推断	11307949	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of hemoglobin complex	IPI IPI: 通过物理相互作用推断	15449937	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

HBD 蛋白结构

Globin

0
100
147 a.a.

蛋白主名

其他名称

hemoglobin subunit delta

delta globin

HBD 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	HBD	P02042	HBQ1	Homo sapiens	P09105	Y2H Array	32296183
种属内	HBD	P02042	HBQ1	Homo sapiens	P09105	Y2H Prey Pooling	25416956
种属内	HBD	P02042	HBQ1	Homo sapiens	P09105	Y2H Prey Pooling	32296183
种属内	HBD	P02042	HBQ1	Homo sapiens	P09105	Validated Y2H	32296183
种属内	HBD	P02042	HBA1	Homo sapiens	P69905	Y2H Prey Pooling	32296183
种属内	HBD	P02042	HBA1	Homo sapiens	P69905	Validated Y2H	32296183
种属内	HBD	P02042	HBA1	Homo sapiens	P69905	Y2H Array	32296183
种属内	HBD	P02042	HBZ	Homo sapiens	P02008	Y2H Array	32296183
种属内	HBD	P02042	HBZ	Homo sapiens	P02008	Y2H Prey Pooling	32296183
种属内	HBD	P02042	NME4	Homo sapiens	O00746	Y2H Array	32814053
种属内	HBD	P02042	NME4	Homo sapiens	O00746	Y2H Pooling	32814053
种属内	HBD	P02042	NME4	Homo sapiens	O00746	Validated Y2H	32814053

种属间: 跨种属相互作用 种属内: 同种属相互作用

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-P2656	β-Defensin-4 (human)	Inhibitor	/	否
HY-P5461	CHRG01	Inhibitor	/	否
HY-RS06027	HBD Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

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

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