• Gene id: 3048

Gene Summary

• Gene Symbol: HBG2   Gene   UCSC   Ensembl
• Aliases: HBG-T1, TNCY
• Gene name: hemoglobin subunit gamma 2
• Alternate names: hemoglobin subunit gamma-2, G-gamma globin Paulinia, abnormal hemoglobin, gamma globin, gamma-2-globin, gamma-globin chain, hb F Ggamma, hemoglobin gamma-2 chain, hemoglobin gamma-G chain, hemoglobin, gamma G, methemoglobin,
• Gene location: 11p15.4 (5254780: 5253187)     Exons: 3     NC_000011.10
• Gene summary(Entrez): The gamma globin genes (HBG1 and HBG2) 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 s
• OMIM: 142250

Protein Summary

• Protein general information: P69892  
  • Name: Hemoglobin subunit gamma 2 (Gamma 2 globin) (Hb F Ggamma) (Hemoglobin gamma 2 chain) (Hemoglobin gamma G chain)
  • Length: 147  
  • Mass: 16126
  • Tissue specificity: Red blood cells.
• Sequence:

  MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDA
  IKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

• Structural information:
  • Interpro: IPR000971  IPR009050  IPR012292  IPR002337  
  • Prosite: PS01033
  • CDD: cd08925
  • PDB: 1FDH 4MQJ 4MQK
  • PDBsum: 1FDH 4MQJ 4MQK
  • STRING: ENSP00000369609
• Other Databases: GeneCards:  HBG2  Malacards:  HBG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004601	peroxidase activity	IBA	contributes to
GO:0005344	oxygen carrier activity	IBA	molecular function
GO:0005833	hemoglobin complex	IBA	cellular component
GO:0020037	heme binding	IBA	molecular function
GO:0031721	hemoglobin alpha binding	IBA	molecular function
GO:0043177	organic acid binding	IBA	molecular function
GO:0019825	oxygen binding	IBA	molecular function
GO:0031720	haptoglobin binding	IBA	contributes to
GO:0031838	haptoglobin-hemoglobin complex	IBA	cellular component
GO:0042744	hydrogen peroxide catabolic process	IBA	biological process
GO:0005833	hemoglobin complex	IEA	cellular component
GO:0020037	heme binding	IEA	molecular function
GO:0015671	oxygen transport	IEA	biological process
GO:0019825	oxygen binding	IEA	molecular function
GO:0005344	oxygen carrier activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0015671	oxygen transport	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0072562	blood microparticle	HDA	cellular component

Diseases

Associated diseases	References
Thalassemia	KEGG:H00228
Thalassemia	KEGG:H00228
Sickle cell anemia	PMID:2432426
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray