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

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: all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Methemoglobin levels in malaria: a systematic review and meta-analysis of its association with Plasmodium falciparum and Plasmodium vivax infections and disease severity.
Title: Methemoglobin levels in malaria: a systematic review and meta-analysis of its association with Plasmodium falciparum and Plasmodium vivax infections and disease severity.
Can We Estimate Late-Onset Sepsis by Serial Methemoglobin Levels? An Observational Study in Preterm Neonates.
Title: Can We Estimate Late-Onset Sepsis by Serial Methemoglobin Levels? An Observational Study in Preterm Neonates.
TEA domain transcription factor 4 modulates repression of fetal haemoglobin by direct binding to the gamma-globin gene promoters.
Title: TEA domain transcription factor 4 modulates repression of fetal haemoglobin by direct binding to the γ-globin gene promoters.
Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.
Title: Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals.
Activation of gamma-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobin.
Title: Activation of γ-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobin.
XmnI Polymorphism in Sickle Cell Disease in North Morocco.
Title: XmnI Polymorphism in Sickle Cell Disease in North Morocco.
Thalassemia Major and Intermedia Patients in East Java do not Show Fetal Hemoglobin Level Difference in Relation to XMNI Polymorphism.
Title: Thalassemia Major and Intermedia Patients in East Java do not Show Fetal Hemoglobin Level Difference in Relation to XMNI Polymorphism.
Multi-Locus Models to Address Hb F Variability in Portuguese beta-Thalassemia Carriers.
Title: Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers.
Association between BCL11A, HSB1L-MYB, and XmnI gammaG-158 (C/T) gene polymorphism and hemoglobin F level in Egyptian sickle cell disease patients.
Title: Association between BCL11A, HSB1L-MYB, and XmnI γG-158 (C/T) gene polymorphism and hemoglobin F level in Egyptian sickle cell disease patients.
Prx2 interacts with hemoglobin A (Alpha2Beta2) and hemoglobin F (Alpha2Gamma2) but not with hemoglobin A2 (Alpha2Delta2)
Title: Interactions between human hemoglobin subunits and peroxiredoxin 2.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD08269 (e-PCR)
- UniSTS:289317

ECD22466 (e-PCR)
- UniSTS:303452

REN97450 (e-PCR)
- UniSTS:422248

ECD07567 (e-PCR)
- UniSTS:288618

REN97452 (e-PCR)
- UniSTS:422250

ECD07826 (e-PCR)
- UniSTS:288876

ECD09628 (e-PCR)
- UniSTS:290669

REN97465 (e-PCR)
- UniSTS:422263

REN97466 (e-PCR)
- UniSTS:422264

REN97467 (e-PCR)
- UniSTS:422265

REN97468 (e-PCR)
- UniSTS:422266

REN97469 (e-PCR)
- UniSTS:422267

REN97470 (e-PCR)
- UniSTS:422268

REN97471 (e-PCR)
- UniSTS:422269

REN97472 (e-PCR)
- UniSTS:422270

REN97473 (e-PCR)
- UniSTS:422271

REN97474 (e-PCR)
- UniSTS:422272

REN97475 (e-PCR)
- UniSTS:422273

REN97476 (e-PCR)
- UniSTS:422274

stSG610846 (e-PCR)
- UniSTS:448965

RH11785 (e-PCR)
- UniSTS:79308

ECD08204 (e-PCR)
- UniSTS:289252

ECD23648 (e-PCR)
- UniSTS:304632

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 more info	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

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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.