HBB(hemoglobin, beta) 转至新版数据库

基因基本信息

基因基本信息

基因简称(symbol)
    [HGNC]     [GeneCards]     [NCBI]
基因种类(locus group)
同源简称(alias symbol)
基因家族代码(gene_family_id)
    [HGNC]     [GenScript]
omim代码
entrez码
    [Vega]
vega基因码
ensembl基因码
    [Ensembl]
基因家族(gene family)
refseq数据库代号

更多...

基因种类(locus_type)
基因名称状态(status)
location_sortable
同源基因名称(alias name)
基因名称批准使用时间(date_approved_reserved)
基因简称更名时间(date_symbol_changed)
基因名称更名时间(date_name_changed)
更新时间(date_modified)
ucsc码
ena
ccds数据码
uniprot数据码
pubmed代码
mgd码
rgd码
生命科学数据库(lsdb)
更新时间(date modified)
cosmic
mirbase
基因曾用简称(prev symbol)
基因曾用名称(prev name)
homeodb
cosmic
snornabase
bioparadigms slc
orphanet
假基因信息(pseudogeneorg)
horde id
merops
imgt
iuphar
kznf基因类别
mamit-trnadb
cd
LncRNA数据库
酶代码
中间纤维数据库

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基因染色体位置

基因染色体位置

11p15.5
基因染色体位置图

基因简述

基因简述

The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]

[中文简述(自动翻译):]  阿尔法（HBA）和β（HBB）位点确定在成人血红蛋白的2种多肽链的结构，血红蛋白A的正常成人血红蛋白四聚体由两个α链和两个β链组成。突变β珠导致镰状细胞性贫血。 β链缺位导致的β-零地中海贫血。检测β珠的量减少导致的β-加上地中海贫血。在β球蛋白集群中的基因的顺序是5‘-EPSILON - γ-G - γ-A - 三角洲 - β - 3‘。 [由RefSeq的，2008年7月提供]

OMIM数据库中对HBB基因的介绍     Wikipedia数据库中对HBB基因的介绍

基因序列

基因序列

HBB基因的碱基序列：[NCBI]

基因突变

基因突变

HBB基因的碱基突变：           显示全部snp
rs334       rs713040       rs1003586       rs1135071       rs1135101       rs1141387       rs1609812       rs1803195       rs3061878       rs4390373       rs7110263       rs7119261       rs7480526       rs7936823       rs7946748       rs10742583       rs10742584       rs10768683       rs10768684       rs10837631       rs11036364       rs11549406       rs11549407       rs12289247       rs12574989       rs12788013       rs16911905       rs33910209       rs33910569       rs33911434       rs33912272       rs33913413       rs33913712       rs33914359       rs33914668       rs33914944       rs33915217      
rs33917394       rs33917628       rs33917785       rs33918131       rs33918338       rs33918474       rs33918483       rs33918778       rs33919821       rs33920173       rs33921589       rs33922018       rs33922873       rs33925391       rs33926764       rs33927093       rs33927739       rs33929415       rs33929459       rs33930165       rs33930385       rs33930977       rs33931779       rs33932908       rs33935383       rs33935445       rs33935527       rs33935673       rs33936254       rs33937535       rs33940051       rs33940204       rs33941377       rs33941849       rs33943001       rs33944208       rs33945705       rs33945777       rs33946267       rs33946775       rs33947020       rs33947415       rs33947457       rs33948057       rs33948615       rs33949486       rs33949930       rs33950507       rs33950542       rs33950778       rs33950993       rs33951465       rs33952266       rs33954632       rs33956555       rs33957286       rs33957964       rs33958088       rs33958358       rs33958637       rs33959855       rs33960103       rs33961444       rs33961459       rs33962676       rs33966761       rs33969400       rs33969677       rs33970699       rs33971440       rs33971634       rs33972047       rs33972593       rs33972927       rs33972975       rs33974228       rs33974277       rs33974325       rs33976006       rs33977536       rs33978082       rs33978338       rs33978907       rs33982568       rs33983205       rs33985544       rs33985847       rs33986703       rs33987903       rs33987957       rs33991059       rs33991294       rs33993004       rs33993568       rs33996892       rs34013622       rs34022507       rs34029390       rs34037627       rs34083951       rs34126315       rs34139813       rs34151786       rs34305195       rs34314652       rs34378160       rs34387455       rs34398074       rs34400584       rs34404985       rs34407387       rs34439278       rs34484056       rs34500389       rs34515413       rs34527846       rs34563000       rs34579351       rs34589620       rs34598529       rs34621955       rs34665886       rs34676051       rs34703513       rs34716011       rs34740366       rs34769005       rs34831026       rs34860414       rs34866629       rs34868397       rs34933751       rs34948328       rs34980264       rs35004220       rs35020585       rs35067717       rs35117167       rs35140348       rs35203747       rs35209591       rs35256489       rs35278874       rs35286210       rs35382661       rs35424040       rs35485099       rs35492035       rs35497102       rs35553496       rs35578002       rs35669628       rs35685286       rs35693898       rs35699606       rs35724775       rs35755129       rs35781690       rs35799536       rs35802118       rs35819837       rs35854892       rs35857380       rs35890380       rs35890959       rs35906307       rs35939430       rs36005841       rs36006214       rs36008922       rs36015961       rs36020563       rs36081208       rs36092904       rs58919412       rs63749819       rs63750195       rs63750519       rs63750628       rs63750681       rs63750783       rs63750840       rs63751175       rs72561473       rs74049330       rs74049331       rs74234654       rs74904621       rs76306358       rs77786719       rs77898631       rs78049410       rs78815705       rs78928216       rs80356820       rs111259661       rs111358494       rs111415391       rs111465890       rs111559058       rs111602327       rs111615088       rs111645889       rs111851677       rs112085788       rs112104780       rs112186624       rs112287010       rs112400237       rs112833541       rs112846140       rs112937703       rs112988270       rs113082294       rs113115948       rs113152027       rs113327500       rs113426432       rs113478180       rs113529588       rs113969885       rs117785782       rs138405215       rs139703273       rs139906321       rs140033163       rs140967615       rs144508720       rs145669504       rs145779302       rs148298007       rs148952738       rs149236588       rs180783444       rs181084342       rs181743523       rs182729393       rs185534693       rs185607297       rs187507944       rs189019300       rs190369729       rs191037579       rs191535077       rs192003874       rs192792910       rs193922551       rs193922557       rs193922558       rs193922559       rs193922560       rs193922562       rs199587927       rs200399660       rs200489215       rs200771769       rs281864524       rs281864900       rs368604295       rs369341845       rs372294425       rs372467642       rs372503204       rs372579888       rs372716225       rs372778054       rs373538213       rs375619280       rs375672426       rs375797635       rs376005360       rs376272324       rs377447760       rs386134236       rs528009939       rs528866559       rs529931134       rs530744142       rs531567967       rs531604051       rs532489097       rs533372053       rs533676587       rs533717494       rs535292205       rs535869972       rs536547159       rs536670489       rs537944366       rs540095198       rs540936184       rs541164183       rs542305176       rs542406343       rs543131436       rs543925348       rs544181285       rs544227794       rs545033655       rs545056671       rs546170493       rs547258651       rs547289399       rs548003657       rs550233673       rs552728372       rs553403528       rs553945255       rs554914198       rs555932193       rs556727592       rs557102525       rs557928274       rs558554234       rs559819102       rs560643693       rs560895446       rs561258571       rs561298980       rs565131043       rs565840446       rs567259408       rs567757862       rs567791461       rs568746151       rs569636767       rs570108889       rs570662275       rs571020364       rs571845487       rs572572024       rs572703440       rs574973986       rs576852971       rs577451680       rs578102677       rs606231217       rs745321944       rs746631999       rs746824976       rs747545656       rs747900373       rs748135809       rs748296717       rs748704616       rs749118003       rs750275131       rs750606223       rs750901840       rs751286983       rs751644989       rs751809624       rs752175922       rs752593184       rs752631303       rs753435791       rs753444453       rs753836653       rs754412212       rs754454495       rs754481448       rs754867195       rs755025590       rs755236703       rs755640155       rs755997419       rs756416304       rs756567448       rs756657263       rs757391103       rs758591462       rs759337708       rs759795721       rs760975738       rs761649200       rs762111851       rs762692752       rs762782573       rs762957058       rs763696976       rs764542454       rs766266418       rs768260954       rs768336186       rs769583496       rs769673434       rs770452069       rs770567827       rs770630710       rs770878031       rs771735835       rs771736852       rs772342393       rs772919319       rs773404685       rs773415134       rs773687221       rs775936922       rs777028217       rs777114006       rs777218911       rs777373323       rs777802495       rs778382385       rs778472232       rs778841729       rs779006439       rs779043171       rs780307221       rs780759163       rs781604042      

基因表达

基因表达

HBB基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向引物Tm值
反向引物序列
反向引物Tm值
rank
CCATTCTGTCCTCAACCTC
57
AACTTCATCCACGTTCACC
58
GATGAAGTTGGTGGTGAGG
58
CAAAGAACCTCTGGGTCCA
59
GGATGAAGTTGGTGGTGAG
58
CAAAGAACCTCTGGGTCCA
59
TCCATTCTGTCCTCAACCTC
59
ACTTCATCCACGTTCACCT
59
TGAGAACTTCAGGCTCCTG
59
TCTTTGCCAAAGTGATGGG
58
GAGAACTTCAGGCTCCTGG
59
ACTTTCTGATAGGCAGCCTG
59
GAGAACTTCAGGCTCCTGG
59
TCTTTGCCAAAGTGATGGG
58
GAGAACTTCAGGCTCCTGG
59
TTCTTTGCCAAAGTGATGGG
59
GATGAAGTTGGTGGTGAGG
58
TCAAAGAACCTCTGGGTCC
59
CTGAGAACTTCAGGCTCCT
58
CTTTCTGATAGGCAGCCTG
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

HBB基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 溶酶体
  • 内涵体
  • 细胞核
  • 细胞质
  • 液泡
  • 细胞膜
  • 细胞外基质
  • 内质网
  • 线粒体
  • 高尔基体
  • 细胞骨架

HBB基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0019825
A0A0J9YWK4(UniProtKB)
IEA
GO:0020037
A0A0J9YWK4(UniProtKB)
IEA
GO:0005344
F8W6P5(UniProtKB)
IEA
GO:0005506
F8W6P5(UniProtKB)
IEA
GO:0005833
F8W6P5(UniProtKB)
IEA
GO:0015671
F8W6P5(UniProtKB)
IEA
GO:0019825
F8W6P5(UniProtKB)
IEA
GO:0020037
F8W6P5(UniProtKB)
IEA
GO:0005344
P68871(UniProtKB)
NAS
GO:0005344
P68871(UniProtKB)
NAS
GO:0005506
P68871(UniProtKB)
IEA
GO:0005515
P68871(UniProtKB)
IPI
GO:0005515
P68871(UniProtKB)
IPI
GO:0005515
P68871(UniProtKB)
IPI
GO:0005515
P68871(UniProtKB)
IPI
GO:0005515
P68871(UniProtKB)
IPI
GO:0005515
P68871(UniProtKB)
IPI
GO:0005515
P68871(UniProtKB)
IPI
GO:0005515
P68871(UniProtKB)
IPI
GO:0005515
P68871(UniProtKB)
IPI
GO:0005515
P68871(UniProtKB)
IPI
GO:0005515
P68871(UniProtKB)
IPI
GO:0005515
P68871(UniProtKB)
IPI
GO:0005576
P68871(UniProtKB)
TAS
GO:0005576
P68871(UniProtKB)
TAS
GO:0005576
P68871(UniProtKB)
TAS
GO:0005576
P68871(UniProtKB)
TAS
GO:0005576
P68871(UniProtKB)
TAS
GO:0005829
P68871(UniProtKB)
TAS
GO:0005829
P68871(UniProtKB)
TAS
GO:0005829
P68871(UniProtKB)
TAS
GO:0005833
P68871(UniProtKB)
NAS
GO:0005833
P68871(UniProtKB)
NAS
GO:0005833
P68871(UniProtKB)
TAS
GO:0005833
P68871(UniProtKB)
IDA
GO:0006898
P68871(UniProtKB)
TAS
GO:0007596
P68871(UniProtKB)
TAS
GO:0008217
P68871(UniProtKB)
IEA
GO:0010942
P68871(UniProtKB)
IDA
GO:0015671
P68871(UniProtKB)
NAS
GO:0015671
P68871(UniProtKB)
NAS
GO:0015671
P68871(UniProtKB)
TAS
GO:0015701
P68871(UniProtKB)
TAS
GO:0015701
P68871(UniProtKB)
TAS
GO:0019825
P68871(UniProtKB)
IDA
GO:0020037
P68871(UniProtKB)
IEA
GO:0030185
P68871(UniProtKB)
NAS
GO:0030492
P68871(UniProtKB)
IDA
GO:0031838
P68871(UniProtKB)
IDA
GO:0042542
P68871(UniProtKB)
IDA
GO:0042744
P68871(UniProtKB)
IDA
GO:0045429
P68871(UniProtKB)
NAS
GO:0050880
P68871(UniProtKB)
IEA
GO:0051291
P68871(UniProtKB)
IDA
GO:0070062
P68871(UniProtKB)
IDA
GO:0070062
P68871(UniProtKB)
IDA
GO:0070062
P68871(UniProtKB)
IDA
GO:0070293
P68871(UniProtKB)
IMP
GO:0070293
P68871(UniProtKB)
IMP
GO:0070527
P68871(UniProtKB)
IMP
GO:0071682
P68871(UniProtKB)
TAS
GO:0072562
P68871(UniProtKB)
IDA
GO:0098869
P68871(UniProtKB)
IEA
GO:0004601
P68871(UniProtKB)
IDA
GO:0031720
P68871(UniProtKB)
IDA

基因相互作用关系

基因相互作用关系

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因相关microRNA

基因相关microRNA

可能调控HBB基因的相关microRNA：     

基因通路图

基因通路图

基因的通路属性图
通路基因列表

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
beta Thalassemia 0.672264398 329 34 BeFree_CLINVAR_CTD_human_GAD_LHGDN_ORPHANET_UNIPROT
Anemia, Sickle Cell 0.57785996 134 4 BeFree_CLINVAR_CTD_human_GAD_LHGDN_ORPHANET_UNIPROT
Heinz Body Anemias 0.36 0 6 CLINVAR_CTD_human_ORPHANET
Beta Thalassemia, Dominant Inclusion Body Type 0.36 0 3 CLINVAR_CTD_human_ORPHANET
alpha-Thalassemia 0.287197343 39 20 BeFree_CLINVAR_CTD_human_GAD_LHGDN
Hemoglobinopathies 0.262888332 39 11 BeFree_CLINVAR_CTD_human_GAD
Beta thalassemia intermedia 0.244071628 15 8 BeFree_CLINVAR_ORPHANET
Delta-Beta Thalassemia 0.243800186 14 0 BeFree_CLINVAR_ORPHANET
Malaria, Falciparum 0.137654991 11 0 BeFree_CTD_human_GAD
Hemoglobin SC Disease 0.12764398 5 0 BeFree_GAD_ORPHANET
beta^0^ Thalassemia 0.127328931 27 43 BeFree_CLINVAR
Thalassemia Intermedia 0.123800186 14 0 BeFree_CLINVAR
Hemoglobin C Disease 0.122367032 1 0 GAD_ORPHANET
Anemia, Hemolytic 0.121628651 6 1 BeFree_CLINVAR
Polycythemia 0.120542884 4 0 BeFree_CTD_human
Erythrocytosis 0.120542884 2 1 BeFree_CLINVAR
Sickle cell-beta-thalassemia 0.120271442 1 0 BeFree_ORPHANET
Sickle cell-beta^+^-thalassemia 0.120271442 1 0 BeFree_ORPHANET
Cyanosis 0.12 1 0 CTD_human
Echinococcosis 0.12 1 0 CTD_human
Methemoglobinemia 0.12 1 0 CTD_human
Polycythemia Vera 0.12 1 0 CTD_human
Hemoglobin E disease 0.12 0 0 ORPHANET
Chloracne 0.12 1 0 CTD_human
Hemoglobin D disease 0.12 0 0 ORPHANET
Hemoglobin SD disease 0.12 0 0 ORPHANET
Sickle cell-hemoglobin E disease 0.12 0 0 ORPHANET
Hemoglobin E/beta thalassemia disease 0.12 0 0 ORPHANET
beta thalassemia major anemia 0.12 0 7 CLINVAR
Sickle cell-Hemoglobin O Arab disease 0.12 0 2 CLINVAR
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 0.12 0 0 CLINVAR
MALARIA, RESISTANCE TO 0.12 0 3 CLINVAR
Anemia 0.099088146 25 1 BeFree_GAD_RGD
Intracranial Hemorrhages 0.08 1 0 RGD
Thalassemia 0.06491701 112 1 BeFree_GAD_LHGDN
Malaria 0.019912403 18 1 BeFree_GAD_LHGDN
Sickle Cell Trait 0.016840666 8 0 BeFree_GAD
Deficiency of glucose-6-phosphate dehydrogenase 0.00973957 5 0 BeFree_GAD
Fetal Diseases 0.009468128 4 0 GAD
Cooley's anemia 0.007871814 29 2 BeFree
Acute Erythroblastic Leukemia 0.007600372 28 0 BeFree
Parasitemia 0.007372538 4 0 BeFree_GAD
Hereditary persistence of fetal hemoglobin thalassemia 0.007057489 26 0 BeFree
Hemoglobin F Disease 0.006243163 23 0 BeFree
alpha^+^ Thalassemia 0.005157396 19 0 BeFree
Cholelithiasis 0.004734064 2 0 GAD
Hypertensive disease 0.004734064 2 0 GAD
HIV Infections 0.004538567 9 0 BeFree_GAD
Hepatitis C, Chronic 0.002995792 1 0 BeFree_LHGDN
Thyroid Neoplasm 0.00272435 1 0 LHGDN
Malnutrition 0.00272435 1 0 LHGDN
Sepsis 0.00272435 1 0 LHGDN
Cerebrovascular accident 0.002638474 2 0 BeFree_GAD
Beta thalassemia trait 0.002442977 9 0 BeFree
Albuminuria 0.002367032 1 0 GAD
Hypochromic anemia 0.002367032 1 0 GAD
Coronary Arteriosclerosis 0.002367032 1 0 GAD
Coronary heart disease 0.002367032 1 0 GAD
Diabetes Mellitus, Insulin-Dependent 0.002367032 1 0 GAD
Sensorineural Hearing Loss (disorder) 0.002367032 1 0 GAD
Hemochromatosis 0.002367032 1 0 GAD
Hemolysis (disorder) 0.002367032 1 0 GAD
Hydrops Fetalis 0.002367032 1 0 GAD
Inflammation 0.002367032 1 0 GAD
Malaria, Cerebral 0.002367032 1 0 GAD
Pain 0.002367032 1 0 GAD
Pregnancy Complications, Hematologic 0.002367032 1 0 GAD
Pregnancy Complications, Infectious 0.002367032 1 0 GAD
Trachoma 0.002367032 1 0 GAD
Buruli Ulcer 0.002367032 1 0 GAD
Myocardial Ischemia 0.002367032 1 0 GAD
Iron deficiency anemia 0.002367032 1 0 GAD
Dyslipidemias 0.002367032 1 0 GAD
Disease Progression 0.002367032 1 0 GAD
Anemia of pregnancy 0.002367032 1 0 GAD
Cardiac Arrest 0.001900093 7 0 BeFree
Beta thalassemia minor 0.001628651 6 0 BeFree
delta-Thalassemia 0.001357209 5 0 BeFree
Hematological Disease 0.001085767 4 0 BeFree
Neoplasm Metastasis 0.001085767 4 0 BeFree
^A^gamma delta beta^0^ thalassemia 0.001085767 4 0 BeFree
Iron-Refractory Iron Deficiency Anemia 0.000814326 3 0 BeFree
BETA THALASSEMIA, HETEROZYGOUS 0.000814326 3 0 BeFree
S-Beta Thalassemia 0.000814326 3 0 BeFree
Dominant thalassemia 0.000814326 3 0 BeFree
Malignant neoplasm of breast 0.000542884 2 0 BeFree
Cystic Fibrosis 0.000542884 2 0 BeFree
Exanthema 0.000542884 2 0 BeFree
Herpes NOS 0.000542884 2 0 BeFree
Herpes Simplex Infections 0.000542884 2 0 BeFree
Lymphoma 0.000542884 2 0 BeFree
Familial erythrocytosis 0.000542884 2 0 BeFree
Aortic Aneurysm, Thoracic 0.000542884 2 0 BeFree
Teratocarcinoma 0.000542884 2 0 BeFree
Anemia, severe 0.000542884 2 0 BeFree
Breast Carcinoma 0.000542884 2 0 BeFree
Thalassemia trait 0.000542884 2 0 BeFree
Spots on skin 0.000542884 2 0 BeFree
AURAL ATRESIA, CONGENITAL 0.000542884 2 0 BeFree
Anemia, Hemolytic, Congenital 0.000271442 1 0 BeFree
Borderline Personality Disorder 0.000271442 1 0 BeFree
Bronchopulmonary Dysplasia 0.000271442 1 0 BeFree
Chest Pain 0.000271442 1 0 BeFree
Gastritis 0.000271442 1 0 BeFree
Hepatitis B 0.000271442 1 0 BeFree
Mycoses 0.000271442 1 0 BeFree
Ovarian Carcinoma 0.000271442 1 0 BeFree
Phenylketonurias 0.000271442 1 0 BeFree
Rhinitis 0.000271442 1 0 BeFree
Carcinoma in situ of penis 0.000271442 1 0 BeFree
Anaplastic thyroid carcinoma 0.000271442 1 0 BeFree
Fibrosis, Liver 0.000271442 1 0 BeFree
Renal glomerular disease 0.000271442 1 0 BeFree
Iron Overload 0.000271442 1 0 BeFree
Cervix carcinoma 0.000271442 1 0 BeFree
Familial primary pulmonary hypertension 0.000271442 1 0 BeFree
Facial wart 0.000271442 1 0 BeFree
Alpha thalassemia-2 trait 0.000271442 1 0 BeFree
Secondary malignant neoplasm of liver 0.000271442 1 0 BeFree
Acute abdominal pain 0.000271442 1 0 BeFree
Classical phenylketonuria 0.000271442 1 0 BeFree
Malignant neoplasm of ovary 0.000271442 1 0 BeFree
Severe beta thalassemia 0.000271442 1 0 BeFree
Nasopharyngeal carcinoma 0.000271442 1 0 BeFree
Experimental Organism Basal Cell Carcinoma 0.000271442 1 0 BeFree

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