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    HBG2 hemoglobin subunit gamma 2 [ Homo sapiens (human) ]

    Gene ID: 3048, updated on 17-Sep-2024

    Summary

    Official Symbol
    HBG2provided by HGNC
    Official Full Name
    hemoglobin subunit gamma 2provided by HGNC
    Primary source
    HGNC:HGNC:4832
    See related
    Ensembl:ENSG00000196565 MIM:142250; AllianceGenome:HGNC:4832
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TNCY; HBG-T1
    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]
    Orthologs
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    Genomic context

    See HBG2 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5253188..5254781, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5312544..5314138, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5274418..5276011, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene A-gamma-globin 3' regulatory region Neighboring gene HBG1 recombination region Neighboring gene beta globin locus transcript 3 Neighboring gene HBG2 recombination region Neighboring gene hemoglobin subunit gamma 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:5278491-5279106 Neighboring gene beta-globin hypersensitive site-embryonic 1 Neighboring gene beta-globin locus control region Neighboring gene hemoglobin subunit epsilon 1 Neighboring gene olfactory receptor family 51 subfamily AB member 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cyanosis, transient neonatal
    MedGen: C3151421 OMIM: 613977 GeneReviews: Not available
    Compare labs
    Hereditary persistence of fetal hemoglobin
    MedGen: C0019025 OMIM: 141749 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat inhibits the butyric acid-induced gamma-globin gene expression in human hematopoietic progenitor K562 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ76540, MGC13466

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to haptoglobin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hemoglobin alpha binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables organic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables oxygen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables oxygen carrier activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables oxygen carrier activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to peroxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carbon dioxide transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hydrogen peroxide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in oxygen transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in oxygen transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of haptoglobin-hemoglobin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of hemoglobin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of hemoglobin complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    hemoglobin subunit gamma-2
    Names
    G-gamma globin Paulinia
    abnormal hemoglobin
    fetal hemoglobin F subunit gamma 2
    gamma globin
    gamma-2-globin
    gamma-globin chain
    hb F Ggamma
    hemoglobin gamma-2 chain
    hemoglobin gamma-G chain
    hemoglobin, gamma G
    methemoglobin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_000007.3 RefSeqGene

      Range
      42835..44428
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000184.3NP_000175.1  hemoglobin subunit gamma-2

      See identical proteins and their annotated locations for NP_000175.1

      Status: REVIEWED

      Source sequence(s)
      AC104389
      Consensus CDS
      CCDS7755.1
      UniProtKB/Swiss-Prot
      A8MZE0, P69892, Q14491, Q68NH9, Q96FH6
      UniProtKB/TrEMBL
      D3GKD9, D9YZU9, E7CYP2
      Related
      ENSP00000338082.4, ENST00000336906.6
      Conserved Domains (1) summary
      cd08925
      Location:8146
      Hb-beta-like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      5253188..5254781 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      5312544..5314138 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)