Homo sapiens Protein: HBG2
Summary
InnateDB Protein IDBP-26435.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HBG2
Protein Name hemoglobin, gamma G
Synonyms HBG-T1; TNCY;
Species Homo sapiens
Ensembl Protein ENSP00000369609
InnateDB Gene IDBG-26431 (HBG2)
Protein Structure
UniProt Annotation
Function Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.
Subcellular Localization
Disease Associations Cyanosis transient neonatal (TNCY) [MIM:613977]: A disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain. {ECO:0000269PubMed:19065339, ECO:0000269PubMed:21561349, ECO:0000269PubMed:2470017, ECO:0000269PubMed:2483933, ECO:0000269PubMed:7741137}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Red blood cells.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated
Total 13 [view]
Protein-Protein 11 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005344 oxygen transporter activity
GO:0005506 iron ion binding
GO:0019825 oxygen binding
GO:0020037 heme binding
Biological Process
GO:0007596 blood coagulation
GO:0015671 oxygen transport
Cellular Component
GO:0005829 cytosol
GO:0005833 hemoglobin complex
GO:0072562 blood microparticle
Protein Structure and Domains
PDB ID
InterPro IPR000971 Globin
IPR002335 Myoglobin
IPR002337 Haemoglobin, beta
IPR009050 Globin-like
PFAM PF00042
PRINTS PR00613
PR00814
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P69892
PhosphoSite PhosphoSite-P69892
TrEMBL Q9UNL6
UniProt Splice Variant
Entrez Gene 3048
UniGene Hs.302145
RefSeq
HUGO HGNC:4832
OMIM 142250
CCDS CCDS7755
HPRD 00792
IMGT
EMBL AF110493 AK290492 AY662983 BC010914 BC029387 BC130457 BC130459 EF125207 GU324926 M11427 M15386 M32723 M32724 M91036 M91037 U01317 V00515 X06490 X55657
GenPept AAA16331 AAA35953 AAA35955 AAA35957 AAA58492 AAB50159 AAB59428 AAD19655 AAH10914 AAH29387 AAI30458 AAI30460 AAT98611 ABL67642 ADL14497 BAF83181 CAA23773 CAA39190 CAB58151