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

Gene ID: 3048, updated on 3-Jun-2018
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; Vega:OTTHUMG00000066673
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
See HBG2 in Genome Data Viewer
Location:
11p15.4
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (5253191..5254781, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (5274421..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 beta-globin hypersensitive site-embryonic 1 Neighboring gene beta-globin locus control region Neighboring gene hemoglobin subunit epsilon 1

  • Project title: 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cyanosis, transient neonatal
MedGen: C3151421 OMIM: 613977 GeneReviews: Not available
Compare labs
Fetal hemoglobin quantitative trait locus 1
MedGen: C1841621 OMIM: 141749 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

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

  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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
PubMed 
heme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
organic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen binding IEA
Inferred from Electronic Annotation
more info
 
oxygen carrier activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen carrier activity IEA
Inferred from Electronic Annotation
more info
 
CONTRIBUTES_TO peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
hydrogen peroxide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen transport IEA
Inferred from Electronic Annotation
more info
 
protein heterooligomerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
cytosol TAS
Traceable Author Statement
more info
 
haptoglobin-hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemoglobin complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
hemoglobin subunit gamma-2
Names
G-gamma globin Paulinia
abnormal hemoglobin
gamma-2-globin
gamma-globin chain
hb F Ggamma
hemoglobin gamma-2 chain
hemoglobin gamma-G chain
hemoglobin, gamma G
methemoglobin

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..44425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_000175.1

    Status: REVIEWED

    Source sequence(s)
    U01317
    Consensus CDS
    CCDS7755.1
    UniProtKB/Swiss-Prot
    P69892
    UniProtKB/TrEMBL
    D9YZU9
    Related
    ENSP00000338082.4, ENST00000336906.5
    Conserved Domains (1) summary
    cd08925
    Location:7146
    Hb-beta_like; Hemoglobin beta, gamma, delta, epsilon, and related Hb subunits

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    5253191..5254781 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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