• Alias                                 (According to NCBI)

• beta-globin 
• hemoglobin
• beta globin chain 
• beta globin mutant
• hemoglobin beta chain 
• hemoglobin, beta 
• Hemoglobin beta chain.

• Description   

  (According to SwissProt)

• 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'.
   

• Chromosomal location

  (According to NCBI, CGH: progenetix)

• Location: 11p15.5
• Orientation: minus strand
• Size:1606 bp
• 3 exons
• DNA sequence (Human): NC_000011.

•         CGH (11p15.5):  Losses (%) -7.5   Gain (%)  2.5    Amplifications  0.0

• Mutations and SNPs (According to HGMD and SNP)

• HGMD : HBB
• SNPs: HBB

• m-RNA                       (According to NCBI and CGAP)

•           mRNA sequence (Human): NM_000518

• ·         Size: 626 bp  

• ·         CDNA libraries: HBB

• Protein                        (According to SwissProt, Swiss2D, PDB, dbPTM)

• Size: 146amino acids; 15867 Da
• Catalytic activity:

·  Subcellular location: intracellular, cytoplasm

·  Protein domains:

  ENSP00000292901

      ENSP00000292902

• Protein sequence (Human):P68871

• Homologous genes: HBB

• 2D PAGE:P68871

• 3D Structure: 1AOU

• PTM: HBB

• Pathways and interactions (According to BioCarta, DIP)

• Pathway:

                       Hemoglobin's Chaperone

• Protein interactions:

• Tissue

  (According to GeneNote, PubMed, HPA)

• Tissue expression: PubMed Reference
• Human Protein Atlas (HPA):

• Clinical                            (According to OMIM, PubMed)

• OMIM: 141900

• PubMed: Early detection      Diagnosis         Prognosis        Therapy