HBG2

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Hemoglobin, gamma G
Protein HBG2 PDB 1fdh.png
PDB rendering based on 1fdh.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols HBG2 ; TNCY
External IDs OMIM142250 HomoloGene128032 GeneCards: HBG2 Gene
Orthologs
Species Human Mouse
Entrez 3048 15135
Ensembl ENSG00000196565 ENSMUSG00000052187
UniProt P69892 P02104
RefSeq (mRNA) NM_000184 NM_008221
RefSeq (protein) NP_000175 NP_032247
Location (UCSC) Chr 11:
5.27 – 5.67 Mb
Chr 7:
103.85 – 103.85 Mb
PubMed search [1] [2]

Hemoglobin subunit gamma-2 is a protein that in humans is encoded by the HBG2 gene.[1]

Function[edit]

The gamma globin genes (HBG1 and HBG2, this gene) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5' - epsilongamma-Ggamma-Adeltabeta - 3'.[2]

References[edit]

  1. ^ Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (May 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood 73 (5): 1081–104. PMID 2649166. 
  2. ^ "Entrez Gene: HBG2 hemoglobin, gamma G". 

Further reading[edit]

  • Gelinas R, Yagi M, Endlich B, et al. (1985). "Sequences of G gamma, A gamma, and beta genes of the Greek (A gamma) HPFH mutant: evidence for a distal CCAAT box mutation in the A gamma gene.". Prog. Clin. Biol. Res. 191: 125–39. PMID 2413469. 
  • Anderson NL, Anderson NG (2003). "The human plasma proteome: history, character, and diagnostic prospects.". Mol. Cell Proteomics 1 (11): 845–67. doi:10.1074/mcp.R200007-MCP200. PMID 12488461.