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

Gene ID: 3048, updated on 7-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (5253188..5254781, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (5312544..5314138, complement)
105.20220307 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
  • 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)

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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, P02096, P62027, P69892, Q14491, Q68NH9, Q96FH6, Q96FH7
    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_2023_10

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)