Human Gene HBB (ENST00000485743.1) from GENCODE V39
  Description: hemoglobin subunit beta (from HGNC HBB)
RefSeq Summary (NM_000518): 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].
Gencode Transcript: ENST00000485743.1
Gencode Gene: ENSG00000244734.4
Transcript (Including UTRs)
   Position: hg38 chr11:5,226,263-5,227,072 Size: 810 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr11:5,226,556-5,227,021 Size: 466 Coding Exon Count: 2 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviews
Methods
Data last updated at UCSC: 2022-01-17 08:30:34

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:5,226,263-5,227,072)mRNA (may differ from genome)Protein (111 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMGIPubMedUniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: HBB
Diseases sorted by gene-association score: thalassemia, hispanic gamma-delta-beta* (1707), sickle cell anemia* (1451), heinz body anemia* (1294), thalassemia-beta, dominant inclusion-body* (1275), fetal hemoglobin quantitative trait locus 1* (972), hemoglobin e disease* (499), thalassemia major* (462), hemoglobinopathy* (448), hemolytic anemia* (445), thalassemia intermedia* (440), hemoglobin c disease* (392), hemoglobin se disease* (375), hemoglobin e-beta-thalassemia syndrome* (375), sickle beta thalassemia* (368), hemoglobin d disease* (366), methemoglobinemia, beta-globin type* (350), sickle cell - hemoglobin d disease* (350), hemoglobin c-beta-thalassemia syndrome* (350), malaria* (311), hereditary persistence of fetal hemoglobin-sickle cell disease syndrome* (247), hemoglobin lepore-beta-thalassemia syndrome* (247), hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome* (175), sickle cell disease* (164), hemoglobin s beta-thalassemia* (100), hemoglobin sd* (100), hemoglobin so* (100), thalassemia (60), thalassemia minor (28), splenic infarction (23), hypochromic microcytic anemia (14), congenital hemolytic anemia (13), thalassemias, alpha- (13), acute chest syndrome (12), splenic disease (12), splenic sequestration (11), autosomal genetic disease (11), methemoglobinemia (11), buruli ulcer (10), acute erythroid leukemia (10), siderosis (10), histiocytosis-lymphadenopathy plus syndrome (10), hemoglobinemia (9), c3 deficiency (9), hemoglobin h disease, nondeletional (8), anemia, sideroblastic, 1 (7), pyridoxine-responsive sideroblastic anemia (7), malignant secondary hypertension (7), cholelithiasis (7), deficiency anemia (6), angioid streaks (6), plasmodium falciparum malaria (6), polycythemia (6), glucosephosphate dehydrogenase deficiency (6), testicular infarct (6), osgood-schlatter's disease (5), spherocytosis, type 2 (5), kluver-bucy syndrome (5), malignant essential hypertension (5), rubeosis iridis (5), pleuropneumonia (4), tetanus neonatorum (4), extraosseous ewing's sarcoma (4), autosomal recessive disease (2), immune system disease (1), hereditary spherocytosis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 219386.00 RPKM in Whole Blood
Total median expression: 225307.19 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.1051-0.198 Picture PostScript Text
3' UTR -58.70293-0.200 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
      
      
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  BC007075 - Homo sapiens hemoglobin, beta, mRNA (cDNA clone MGC:14540 IMAGE:4292125), complete cds.
M25113 - Human sickle beta-hemoglobin mRNA.
HW348671 - WO 2013147320-A/20: Microarray for detection of mutations of beta-globin gene and the method for detectioning of that.
LX064374 - JP 2017045451-A/20: Microarray for detection of mutations of beta-globin gene and the method for detectioning of that.
V00497 - Human messenger RNA for beta-globin.
AY509193 - Homo sapiens hemoglobin beta mRNA, complete cds.
V00500 - Human messenger RNA for beta-globin.
A18171 - Beta globin gene seq ID No:3.
AF181989 - Homo sapiens hemoglobin beta subunit variant (HBB) mRNA, complete cds.
AF349114 - Homo sapiens beta globin chain variant (HBB) mRNA, complete cds.
AF181832 - Homo sapiens hemoglobin beta subunit variant (HBB) mRNA, partial cds.
EU694432 - Homo sapiens hemoglobin beta chain variant (HBB) mRNA, HBB-Dothan allele, complete cds.
AY136510 - Homo sapiens hemoglobin beta chain variant Hb S-Wake (HBB) mRNA, complete cds.
AF117710 - Homo sapiens hemoglobin beta chain (HBB) mRNA, complete cds.
M25079 - Human sickle cell beta-globin mRNA, complete cds.
DQ893159 - Synthetic construct clone IMAGE:100005789; FLH194450.01X; RZPDo839B0680D hemoglobin, beta (HBB) gene, encodes complete protein.
CR536530 - Homo sapiens full open reading frame cDNA clone RZPDo834D0222D for gene HBB, hemoglobin, beta; complete cds, incl. stopcodon.
KJ896959 - Synthetic construct Homo sapiens clone ccsbBroadEn_06353 HBB gene, encodes complete protein.
KR710226 - Synthetic construct Homo sapiens clone CCSBHm_00010498 HBB (HBB) mRNA, encodes complete protein.
KR710227 - Synthetic construct Homo sapiens clone CCSBHm_00010525 HBB (HBB) mRNA, encodes complete protein.
KR710228 - Synthetic construct Homo sapiens clone CCSBHm_00010601 HBB (HBB) mRNA, encodes complete protein.
KR710229 - Synthetic construct Homo sapiens clone CCSBHm_00010626 HBB (HBB) mRNA, encodes complete protein.
AK311825 - Homo sapiens cDNA, FLJ92086, Homo sapiens hemoglobin, beta (HBB), mRNA.
DQ896453 - Synthetic construct Homo sapiens clone IMAGE:100010913; FLH194446.01L; RZPDo839B0670D hemoglobin, beta (HBB) gene, encodes complete protein.
EU176774 - Synthetic construct Homo sapiens clone IMAGE:100011599; FLH263683.01L; RZPDo839F03256D hemoglobin, beta (HBB) gene, encodes complete protein.
CR541913 - Homo sapiens full open reading frame cDNA clone RZPDo834E0633D for gene HBB, hemoglobin, beta; complete cds, without stopcodon.
AM392537 - Synthetic construct Homo sapiens clone IMAGE:100002184 for hypothetical protein (HBB gene).
AM393351 - Synthetic construct Homo sapiens clone IMAGE:100002185 for hypothetical protein (HBB gene).
LP986374 - Sequence 12 from Patent EP3201339.
MA014034 - JP 2017536338-A/12: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
CU675537 - Synthetic construct Homo sapiens gateway clone IMAGE:100016702 5' read HBB mRNA.
DQ655983 - Homo sapiens clone Affy08248A01, mRNA sequence.
JD027508 - Sequence 8532 from Patent EP1572962.
M14574 - Human beta-globin gene mRNA precursor, 5' end.
LP986372 - Sequence 10 from Patent EP3201339.
MA014032 - JP 2017536338-A/10: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ahspPathway - Hemoglobin's Chaperone

-  Other Names for This Gene
  Alternate Gene Symbols: A0A2R8Y7R2, AK311825, uc057ygy.1, uc057ygy.2
UCSC ID: ENST00000485743.1
RefSeq Accession: NM_000518

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene HBB:
sickle (Sickle Cell Disease)
b-thal (Beta-Thalassemia)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.