HBG2
Hemoglobin subunit gamma-2
Also known as: HBG-T1, HBG2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P69892
- Gene
- HBG2
- Ensembl
- ENSG00000196565
- Chromosome
- 11
- Canonical length
- 147 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
OverviewNCBI Gene
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 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'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
147 residues, UniProt reviewed canonical sequence.
>P69892|HBG2
1 MGHFTEEDKA TITSLWGKVN VEDAGGETLG RLLVVYPWTQ RFFDSFGNLS SASAIMGNPK
61 VKAHGKKVLT SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD PENFKLLGNV LVTVLAIHFG
121 KEFTPEVQAS WQKMVTGVAS ALSSRYHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HBG2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 9,660 nTPM
Expression across tissuesHPA
Tissue
- placenta: 9,660 nTPM
- bone marrow: 74 nTPM
- spleen: 19 nTPM
- lung: 11 nTPM
- choroid plexus: 8.9 nTPM
- pancreas: 8.8 nTPM
Single-cell type
- epididymal basal cells: 0.3 nCPM
- epididymal efferent duct absorptive cells: 0.1 nCPM
- epididymal principal cells: 0.1 nCPM
- adipocytes: 0 nCPM
- adrenal cortex cells: 0 nCPM
- adrenal medulla cells: 0 nCPM
Immune cell
- total PBMC: 6.5 nTPM
- classical monocyte: 0.4 nTPM
- neutrophil: 0.3 nTPM
- myeloid DC: 0.1 nTPM
- naive CD4 T-cell: 0.1 nTPM
- basophil: 0 nTPM
Brain region
- cerebral cortex: 5.7 nTPM
- choroid plexus: 5.6 nTPM
- white matter: 5.4 nTPM
- hippocampal formation: 4.7 nTPM
- amygdala: 4.4 nTPM
- basal ganglia: 4.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HBG2.
Disease | AllUniProt
Conditions HBG2 is implicated in, by any mechanism.
- Cyanosis transient neonatal (TNCY) MIM:613977
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 69 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cyanosis, transient neonatal
- Hereditary persistence of fetal hemoglobin
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.83
- gnomAD pLI
- 0.67
- gnomAD missense Z
- 1.35
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HBG2 as an antibody target. Whether an autoantibody or antibody against HBG2 could matter depends on whether native HBG2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HBG2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label HBG2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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