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Aliases for HBB Gene

Aliases for HBB Gene

  • Hemoglobin, Beta 2 3
  • Beta-Globin 3 4
  • Hemoglobin Beta Chain 4
  • Beta Globin Chain 3
  • CD113t-C 3

External Ids for HBB Gene

Previous GeneCards Identifiers for HBB Gene

  • GC11M005995
  • GC11M005548
  • GC11M005205
  • GC11M005211
  • GC11M005203
  • GC11M005250
  • GC11M004905
  • GC11M005257
  • GC11M005264

Summaries for HBB Gene

Entrez Gene Summary for HBB Gene

  • 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]

GeneCards Summary for HBB Gene

HBB (Hemoglobin, Beta) is a Protein Coding gene. Diseases associated with HBB include sickle cell disease and hemoglobin s beta-thalassemia. Among its related pathways are Hemostasis and Metabolism. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBA2.

UniProtKB/Swiss-Prot for HBB Gene

  • Involved in oxygen transport from the lung to the various peripheral tissues

  • LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure

  • Spinorphin: functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation

Gene Wiki entry for HBB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBB Gene

Genomics for HBB Gene

Regulatory Elements for HBB Gene

Genomic Location for HBB Gene

Chromosome:
11
Start:
5,225,464 bp from pter
End:
5,229,395 bp from pter
Size:
3,932 bases
Orientation:
Minus strand

Genomic View for HBB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HBB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBB Gene

Proteins for HBB Gene

  • Protein details for HBB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P68871-HBB_HUMAN
    Recommended name:
    Hemoglobin subunit beta
    Protein Accession:
    P68871
    Secondary Accessions:
    • A4GX73
    • B2ZUE0
    • P02023
    • Q13852
    • Q14481
    • Q14510
    • Q45KT0
    • Q549N7
    • Q6FI08
    • Q6R7N2
    • Q8IZI1
    • Q9BX96
    • Q9UCD6
    • Q9UCP8
    • Q9UCP9

    Protein attributes for HBB Gene

    Size:
    147 amino acids
    Molecular mass:
    15998 Da
    Quaternary structure:
    • Heterotetramer of two alpha chains and two beta chains in adult hemoglobin A (HbA). Heterotetramer of two zeta chains and two beta chains in hemoglobin Portland-2, detected in fetuses and neonates with homozygous alpha-thalassemia.
    Miscellaneous:
    • One molecule of 2,3-bisphosphoglycerate can bind to two beta chains per hemoglobin tetramer

    Three dimensional structures from OCA and Proteopedia for HBB Gene

neXtProt entry for HBB Gene

Proteomics data for HBB Gene at MOPED

Post-translational modifications for HBB Gene

  • Acetylated on Lys-60, Lys-83 and Lys-145 upon aspirin exposure.
  • Glucose reacts non-enzymatically with the N-terminus of the beta chain to form a stable ketoamine linkage. This takes place slowly and continuously throughout the 120-day life span of the red blood cell. The rate of glycation is increased in patients with diabetes mellitus
  • S-nitrosylated; a nitric oxide group is first bound to Fe(2+) and then transferred to Cys-94 to allow capture of O(2).
  • Glycosylation at Val 2, Lys 9, Lys 18, Lys 67, Lys 121, and Lys 145
  • Modification sites at PhosphoSitePlus

Other Protein References for HBB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HBB Gene

Domains & Families for HBB Gene

Gene Families for HBB Gene

Protein Domains for HBB Gene

Graphical View of Domain Structure for InterPro Entry

P68871

UniProtKB/Swiss-Prot:

HBB_HUMAN :
  • Belongs to the globin family.
Family:
  • Belongs to the globin family.
genes like me logo Genes that share domains with HBB: view

Function for HBB Gene

Molecular function for HBB Gene

GENATLAS Biochemistry:
hemoglobin,beta,adult
UniProtKB/Swiss-Prot Function:
Involved in oxygen transport from the lung to the various peripheral tissues
UniProtKB/Swiss-Prot Function:
LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure
UniProtKB/Swiss-Prot Function:
Spinorphin: functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation

Gene Ontology (GO) - Molecular Function for HBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004601 contributes_to peroxidase activity IDA 19740759
GO:0005344 oxygen transporter activity NAS 1301199
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 1552945
GO:0019825 oxygen binding IDA 11747442
genes like me logo Genes that share ontologies with HBB: view
genes like me logo Genes that share phenotypes with HBB: view

Animal Models for HBB Gene

MGI Knock Outs for HBB:

miRNA for HBB Gene

miRTarBase miRNAs that target HBB

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HBB

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HBB Gene

Localization for HBB Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HBB Gene COMPARTMENTS Subcellular localization image for HBB gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 2
cytoskeleton 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005829 cytosol TAS --
GO:0005833 hemoglobin complex TAS 1540659
GO:0031838 haptoglobin-hemoglobin complex IDA 19740759
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with HBB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HBB Gene

Pathways & Interactions for HBB Gene

genes like me logo Genes that share pathways with HBB: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Embryonic Stem Cells in human,mouse,rat

Gene Ontology (GO) - Biological Process for HBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis TAS --
GO:0007596 blood coagulation TAS --
GO:0008217 regulation of blood pressure IEA --
GO:0010942 positive regulation of cell death IDA 19740759
GO:0015671 oxygen transport TAS 1540659
genes like me logo Genes that share ontologies with HBB: view

No data available for SIGNOR curated interactions for HBB Gene

Drugs & Compounds for HBB Gene

(40) Drugs for HBB Gene - From: NovoSeek, HMDB, DrugBank, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nitric Oxide Approved Pharma 540
Iron Dextran Approved Pharma Target, activator 0
Aminolevulinic acid Approved Pharma 128
Azathioprine Approved Pharma 145
Chloramphenicol Approved Pharma 6

(32) Additional Compounds for HBB Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
23-diphosphoglycerate
adenylate
Amine
aspartate
genes like me logo Genes that share compounds with HBB: view

Transcripts for HBB Gene

Unigene Clusters for HBB Gene

Hemoglobin, beta:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HBB

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HBB Gene

No ASD Table

Relevant External Links for HBB Gene

GeneLoc Exon Structure for
HBB
ECgene alternative splicing isoforms for
HBB

Expression for HBB Gene

mRNA expression in normal human tissues for HBB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HBB Gene

This gene is overexpressed in Whole Blood (x51.8).

Protein differential expression in normal tissues from HIPED for HBB Gene

This gene is overexpressed in Cerebral cortex (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HBB Gene



SOURCE GeneReport for Unigene cluster for HBB Gene Hs.523443

mRNA Expression by UniProt/SwissProt for HBB Gene

P68871-HBB_HUMAN
Tissue specificity: Red blood cells.
genes like me logo Genes that share expression patterns with HBB: view

Protein tissue co-expression partners for HBB Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

Orthologs for HBB Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBB Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia LOC480784 35
  • 87.76 (n)
  • 89.8 (a)
-- 36
  • 83 (a)
ManyToMany
-- 36
  • 86 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Hbb-bt 35
  • 82.77 (n)
  • 80.27 (a)
Hbb 16
Hbb-bh2 36
  • 57 (a)
ManyToMany
Hbb-bs 36
  • 80 (a)
ManyToMany
Hbb-bt 36
  • 80 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia HBB 35
  • 99.77 (n)
  • 100 (a)
HBB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hbb 35
  • 82.77 (n)
  • 81.63 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 78 (a)
ManyToMany
-- 36
  • 79 (a)
ManyToMany
-- 36
  • 74 (a)
ManyToMany
HBB 36
  • 84 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 73 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 77 (a)
OneToMany
chicken
(Gallus gallus)
Aves HBB 36
  • 69 (a)
ManyToMany
HBE 36
  • 66 (a)
ManyToMany
HBE1 36
  • 67 (a)
ManyToMany
HBG1 36
  • 66 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8573 35
African clawed frog
(Xenopus laevis)
Amphibia LOC397871 35
zebrafish
(Danio rerio)
Actinopterygii hbaa1 36
  • 42 (a)
ManyToMany
hbaa1 36
  • 42 (a)
ManyToMany
hbae1 36
  • 38 (a)
ManyToMany
hbae1 36
  • 35 (a)
ManyToMany
hbae3 36
  • 40 (a)
ManyToMany
hbz 36
  • 41 (a)
ManyToMany
si:ch211-5k11.2 36
  • 38 (a)
ManyToMany
si:ch211-5k11.6 36
  • 42 (a)
ManyToMany
Species with no ortholog for HBB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HBB Gene

ENSEMBL:
Gene Tree for HBB (if available)
TreeFam:
Gene Tree for HBB (if available)

Paralogs for HBB Gene

Paralogs for HBB Gene

genes like me logo Genes that share paralogs with HBB: view

Variants for HBB Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HBB Gene

P68871-HBB_HUMAN
Genetic variations in HBB are involved in resistance to malaria [MIM:611162]. Hemoglobin S (Hb S), which at homozygosity is responsible for sickle cell anemia, is not associated with any clinical abnormality when heterozygous. At heterozygosity, Hb S confers an increase in protection from life-threatening malaria. Additional variants conferring resistance against severe malaria are hemoglobin C (Hb C) and hemoglobin E (Hb E).

Sequence variations from dbSNP and Humsavar for HBB Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs10742584 -- 5,227,540(+) ACCTC(A/G)GTTCT upstream-variant-2KB
rs10768683 -- 5,226,561(+) TCAAG(C/G)GTCCC intron-variant
rs10768684 -- 5,227,612(+) TATAT(A/G)TGTGT upstream-variant-2KB
rs10837631 -- 5,225,126(+) TGGAG(A/T)CAAGG downstream-variant-500B
rs11036364 -- 5,227,774(+) AAGAG(A/G)TAAAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HBB Gene

Variant ID Type Subtype PubMed ID
nsv896929 CNV Loss 21882294

Variation tolerance for HBB Gene

Residual Variation Intolerance Score: 70.65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HBB Gene

HapMap Linkage Disequilibrium report
HBB
Human Gene Mutation Database (HGMD)
HBB

Disorders for HBB Gene

MalaCards: The human disease database

(68) MalaCards diseases for HBB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
sickle cell disease
  • hemoglobin s disease
hemoglobin s beta-thalassemia
  • sickle cell-beta-thalassemia
hemoglobin sd
hemoglobin so
hereditary persistence of fetal hemoglobin - sickle cell disease
  • hpfh - sickle cell disease
- elite association
Search HBB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HBB_HUMAN
  • Beta-thalassemia (B-THAL) [MIM:613985]: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta-thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic. {ECO:0000269 PubMed:15481886, ECO:0000269 PubMed:2399911, ECO:0000269 PubMed:6166632, ECO:0000269 PubMed:7693620}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Beta-thalassemia, dominant, inclusion body type (B-THALIB) [MIM:603902]: An autosomal dominant form of beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy. {ECO:0000269 PubMed:1971109}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Heinz body anemias (HEIBAN) [MIM:140700]: Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency. {ECO:0000269 PubMed:186485, ECO:0000269 PubMed:2599881, ECO:0000269 PubMed:6259091, ECO:0000269 PubMed:8704193}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Sickle cell anemia (SKCA) [MIM:603903]: Characterized by abnormally shaped red cells resulting in chronic anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red blood cells are round and flexible and flow easily through blood vessels, but in sickle cell anemia, the abnormal hemoglobin (called Hb S) causes red blood cells to become stiff. They are C-shaped and resembles a sickle. These stiffer red blood cells can led to microvascular occlusion thus cutting off the blood supply to nearby tissues. {ECO:0000269 PubMed:13464827, ECO:0000269 Ref.10}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HBB Gene

methemoglobinemia,hemoglobinopathic type of Hbm (beta) type,erythremia beta,sickle cell disease,drepanocytosis,Heinz body anemia,beta,thalassemia,beta

Relevant External Links for HBB

Genetic Association Database (GAD)
HBB
Human Genome Epidemiology (HuGE) Navigator
HBB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HBB
genes like me logo Genes that share disorders with HBB: view

Publications for HBB Gene

  1. Hemoglobin Hakkari: an autosomal dominant form of beta thalassemia with inclusion bodies arising from de novo mutation in exon 2 of beta globin gene. (PMID: 19852066) Kanathezhath B. … Lal A. (Pediatr Blood Cancer 2010) 23 67
  2. Beta-thalassemia. (PMID: 20098328) Cao A. … Galanello R. (Genet. Med. 2010) 23 67
  3. Misdiagnosis of a beta-thalassemia heterozygote using a reverse dot-blot method may be caused by a polymorphic locus in the wild type sequence of the beta-globin gene. (PMID: 20353358) Yi P. … Li L. (Hemoglobin 2010) 23 67
  4. Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6. (PMID: 20395365) Xu J. … Orkin S.H. (Genes Dev. 2010) 23 67
  5. Developmentally regulated extended domains of DNA hypomethylation encompass highly transcribed genes of the human beta-globin locus. (PMID: 19460471) Lathrop M.J. … Lowrey C.H. (Exp. Hematol. 2009) 23 67

Products for HBB Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Embryonic Stem Cells in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate HBB
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for HBB
    • Block miRNA regulation of HBB using miScript Target Protectors

    Sources for HBB Gene

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