HBG2 hemoglobin subunit gamma 2
Gene ID: 3048, updated on 2-Nov-2024Gene type: protein coding
Also known as: TNCY; HBG-T1
- See all available tests in GTR for this gene
- Go to complete Gene record for HBG2
- Go to Variation Viewer for HBG2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. GeneReviews: Not available | |
| Cyanosis, transient neonatal | See labs |
| Hereditary persistence of fetal hemoglobin | See labs |
Genomic context
- Location:
- 11p15.4
- Sequence:
- Chromosome: 11; NC_000011.10 (5253188..5254781, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HBG2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HBG2 @ LOVD
- HbVar: A Database of Human Hemoglobin Variants and Thalassemias
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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