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: ENST00000485743.1Gencode Gene: ENSG00000244734.4Transcript (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
Data last updated at UCSC: 2022-01-17 08:30:34
Sequence and Links to Tools and Databases
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)
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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.
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.2UCSC ID: ENST00000485743.1RefSeq Accession: NM_000518
GeneReviews for This Gene
GeneReviews article(s) related to gene HBB:sickle b-thal
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.
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