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Protein

Hemoglobin subunit gamma-2

Gene

HBG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi64Iron (heme distal ligand)By similarity1
Metal bindingi93Iron (heme proximal ligand)Combined sources1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • heme binding Source: GO_Central
  • metal ion binding Source: UniProtKB-KW
  • organic acid binding Source: GO_Central
  • oxygen binding Source: GO_Central
  • oxygen carrier activity Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processOxygen transport, Transport
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-983231 Factors involved in megakaryocyte development and platelet production

SIGNOR Signaling Network Open Resource

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SIGNORi
P69892

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Hemoglobin subunit gamma-2
Alternative name(s):
Gamma-2-globin
Hb F Ggamma
Hemoglobin gamma-2 chain
Hemoglobin gamma-G chain
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HBG2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000196565.12

Human Gene Nomenclature Database

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HGNCi
HGNC:4832 HBG2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
142250 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P69892

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cyanosis transient neonatal (TNCY)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain.
See also OMIM:613977
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00314642F → S in TNCY; hemoglobin Cincinnati. 1 PublicationCorresponds to variant dbSNP:rs34878913EnsemblClinVar.1
Natural variantiVAR_02533664H → L in TNCY; hemoglobin M-Circleville. 2 Publications1
Natural variantiVAR_00315464H → Y in TNCY; hemoglobin Osaka; the presence of a tyrosine causes the formation of a covalent link with heme iron, so that the iron is stabilized in the ferric form; when this occurs methemoglobin is formed, oxygen can no longer bind to heme and cyanosis occurs. 2 PublicationsCorresponds to variant dbSNP:rs34474104EnsemblClinVar.1
Natural variantiVAR_06595068V → M in TNCY; hemoglobin Toms River; the side chain of methionine decreases both the affinity of oxygen for binding to the mutant hemoglobin subunit via steric hindrance and the rate at which it does so; the mutant methionine is converted to aspartic acid post-translationally. 1 PublicationCorresponds to variant dbSNP:rs587776864EnsemblClinVar.1
Natural variantiVAR_00316693H → Y in TNCY; hemoglobin Fort Ripley. 1 PublicationCorresponds to variant dbSNP:rs35103459EnsemblClinVar.1
Natural variantiVAR_073159106L → H in TNCY; hemoglobin F-Brugine/Feldkirch; lowered affinity for oxygen. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
3048

MalaCards human disease database

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MalaCardsi
HBG2
MIMi613977 phenotype

Open Targets

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OpenTargetsi
ENSG00000196565

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
280615 Hemoglobinopathy Toms River
46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29207

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
HBG2

Domain mapping of disease mutations (DMDM)

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DMDMi
56749861

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved3 Publications
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000532542 – 147Hemoglobin subunit gamma-2Add BLAST146

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylglycine; in form Hb F11 Publication1
Modified residuei13PhosphothreonineBy similarity1
Modified residuei45PhosphoserineCombined sources1
Modified residuei51PhosphoserineCombined sources1
Modified residuei53PhosphoserineCombined sources1
Modified residuei60N6-acetyllysineBy similarity1
Modified residuei83N6-acetyllysineBy similarity1
Modified residuei94S-nitrosocysteineBy similarity1
Modified residuei140PhosphoserineCombined sources1
Modified residuei143PhosphoserineCombined sources1
Modified residuei144PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Acetylation of Gly-2 converts Hb F to the minor Hb F1.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein, S-nitrosylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P69892

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P69892

MaxQB - The MaxQuant DataBase

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MaxQBi
P69892

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P69892

PeptideAtlas

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PeptideAtlasi
P69892

PRoteomics IDEntifications database

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PRIDEi
P69892

ProteomicsDB human proteome resource

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ProteomicsDBi
57546

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P69892

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P69892

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Red blood cells.

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed until four or five weeks after birth.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000196565 Expressed in 86 organ(s), highest expression level in stomach

CleanEx database of gene expression profiles

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CleanExi
HS_HBG2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P69892 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P69892 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB016143
HPA043234

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterotetramer of two alpha chains and two gamma chains in fetal hemoglobin (Hb F).1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
HBMQ6B0K94EBI-3910089,EBI-12805802

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109298, 8 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-2931 Hemoglobin Portland-1 Variant 2 complex
CPX-2933 Hemoglobin HbF Variant 2 complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P69892

Protein interaction database and analysis system

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IntActi
P69892, 10 interactors

Molecular INTeraction database

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MINTi
P69892

STRING: functional protein association networks

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STRINGi
9606.ENSP00000338082

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1147
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FDHX-ray2.50G/H2-147[»]
4MQJX-ray1.80B/D/F/H3-147[»]
4MQKX-ray2.24B/D/F/H2-147[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P69892

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P69892

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P69892

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the globin family.PROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3378 Eukaryota
COG1018 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000162659

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG009709

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P69892

KEGG Orthology (KO)

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KOi
K13824

Database of Orthologous Groups

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OrthoDBi
1370439at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P69892

TreeFam database of animal gene trees

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TreeFami
TF333268

Family and domain databases

Conserved Domains Database

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CDDi
cd08925 Hb-beta_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.490.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000971 Globin
IPR009050 Globin-like_sf
IPR012292 Globin/Proto
IPR002337 Haemoglobin_b

Pfam protein domain database

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Pfami
View protein in Pfam
PF00042 Globin, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00814 BETAHAEM

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46458 SSF46458, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS01033 GLOBIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

P69892-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGHFTEEDKA TITSLWGKVN VEDAGGETLG RLLVVYPWTQ RFFDSFGNLS
60 70 80 90 100
SASAIMGNPK VKAHGKKVLT SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD
110 120 130 140
PENFKLLGNV LVTVLAIHFG KEFTPEVQAS WQKMVTGVAS ALSSRYH
Length:147
Mass (Da):16,126
Last modified:January 23, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8FCDC4441B416DDE
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB50159 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0031232G → C in Malaysia. 1 PublicationCorresponds to variant dbSNP:rs36006195EnsemblClinVar.1
Natural variantiVAR_0031266E → G in Meinohama. 1 PublicationCorresponds to variant dbSNP:rs34263826EnsemblClinVar.1
Natural variantiVAR_0031298D → N in Auckland. 1 PublicationCorresponds to variant dbSNP:rs34501593EnsemblClinVar.1
Natural variantiVAR_0206439K → E in Albaicin. 1 PublicationCorresponds to variant dbSNP:rs35521813EnsemblClinVar.1
Natural variantiVAR_0206449K → Q in Albaicin. 1 PublicationCorresponds to variant dbSNP:rs35521813EnsemblClinVar.1
Natural variantiVAR_02064513T → R in Heather. Corresponds to variant dbSNP:rs281864890EnsemblClinVar.1
Natural variantiVAR_00313116W → R in Catalonia. 1 PublicationCorresponds to variant dbSNP:rs34438981EnsemblClinVar.1
Natural variantiVAR_00313217G → R in Melbourne. 1 PublicationCorresponds to variant dbSNP:rs34907654EnsemblClinVar.1
Natural variantiVAR_02064618K → N in Clamart. 1 PublicationCorresponds to variant dbSNP:rs35621390EnsemblClinVar.1
Natural variantiVAR_02064720N → K in Ouled Rabah. 1 PublicationCorresponds to variant dbSNP:rs34018799EnsemblClinVar.1
Natural variantiVAR_03049621V → A in Bron. 1 PublicationCorresponds to variant dbSNP:rs63751196Ensembl.1
Natural variantiVAR_00313322E → K in Saskatoon. 1 PublicationCorresponds to variant dbSNP:rs33955330EnsemblClinVar.1
Natural variantiVAR_00313422E → Q in Fuchu. 1 PublicationCorresponds to variant dbSNP:rs33955330EnsemblClinVar.1
Natural variantiVAR_02064823D → G in Urumqi. 2 PublicationsCorresponds to variant dbSNP:rs281864891EnsemblClinVar.1
Natural variantiVAR_00313623D → V in Granada. 1 PublicationCorresponds to variant dbSNP:rs281864891EnsemblClinVar.1
Natural variantiVAR_00313726G → E in Cosenza. 1 PublicationCorresponds to variant dbSNP:rs35687396EnsemblClinVar.1
Natural variantiVAR_00313927E → K in Oakland. 1 PublicationCorresponds to variant dbSNP:rs35654328EnsemblClinVar.1
Natural variantiVAR_00314035V → I in Tokyo. 1 PublicationCorresponds to variant dbSNP:rs35885783EnsemblClinVar.1
Natural variantiVAR_03049739T → P in Bonheiden; causes severe hereditary hemolytic anemia. 1 PublicationCorresponds to variant dbSNP:rs35799058Ensembl.1
Natural variantiVAR_00314441R → G in Veleta. Corresponds to variant dbSNP:rs34532478EnsemblClinVar.1
Natural variantiVAR_02064941R → K in Austell. 1 PublicationCorresponds to variant dbSNP:rs281864892EnsemblClinVar.1
Natural variantiVAR_00314642F → S in TNCY; hemoglobin Cincinnati. 1 PublicationCorresponds to variant dbSNP:rs34878913EnsemblClinVar.1
Natural variantiVAR_00314845S → R in Lodz. 1 PublicationCorresponds to variant dbSNP:rs34017450EnsemblClinVar.1
Natural variantiVAR_00315056M → R in Kingston. 1 PublicationCorresponds to variant dbSNP:rs34915311EnsemblClinVar.1
Natural variantiVAR_00315160K → E in Emirates. 1 PublicationCorresponds to variant dbSNP:rs28933078EnsemblClinVar.1
Natural variantiVAR_00315260K → Q in Sacromonte. 1 PublicationCorresponds to variant dbSNP:rs28933078EnsemblClinVar.1
Natural variantiVAR_02533664H → L in TNCY; hemoglobin M-Circleville. 2 Publications1
Natural variantiVAR_00315464H → Y in TNCY; hemoglobin Osaka; the presence of a tyrosine causes the formation of a covalent link with heme iron, so that the iron is stabilized in the ferric form; when this occurs methemoglobin is formed, oxygen can no longer bind to heme and cyanosis occurs. 2 PublicationsCorresponds to variant dbSNP:rs34474104EnsemblClinVar.1
Natural variantiVAR_00315566K → N in Clarke. 1 PublicationCorresponds to variant dbSNP:rs34019507EnsemblClinVar.1
Natural variantiVAR_00315767K → Q in Brooklyn. 1 PublicationCorresponds to variant dbSNP:rs34264694EnsemblClinVar.1
Natural variantiVAR_00315667K → R in Shanghai. 1 PublicationCorresponds to variant dbSNP:rs35481866EnsemblClinVar.1
Natural variantiVAR_06595068V → M in TNCY; hemoglobin Toms River; the side chain of methionine decreases both the affinity of oxygen for binding to the mutant hemoglobin subunit via steric hindrance and the rate at which it does so; the mutant methionine is converted to aspartic acid post-translationally. 1 PublicationCorresponds to variant dbSNP:rs587776864EnsemblClinVar.1
Natural variantiVAR_02065073G → R in Minoo. 1 PublicationCorresponds to variant dbSNP:rs281860594EnsemblClinVar.1
Natural variantiVAR_02065176I → T in LesVos/Waynesboro/Charlotte. 3 PublicationsCorresponds to variant dbSNP:rs1061234Ensembl.1
Natural variantiVAR_03049876I → V in Coigneres. 1 PublicationCorresponds to variant dbSNP:rs34363111Ensembl.1
Natural variantiVAR_00316278H → R in Kennestone. 1 PublicationCorresponds to variant dbSNP:rs34150306EnsemblClinVar.1
Natural variantiVAR_02065281D → N in Marietta. Corresponds to variant dbSNP:rs63751148EnsemblClinVar.1
Natural variantiVAR_00316693H → Y in TNCY; hemoglobin Fort Ripley. 1 PublicationCorresponds to variant dbSNP:rs35103459EnsemblClinVar.1
Natural variantiVAR_00316795D → N in Columbus-Ga. 1 PublicationCorresponds to variant dbSNP:rs35812514EnsemblClinVar.1
Natural variantiVAR_003169102E → K in La Grange. 1 PublicationCorresponds to variant dbSNP:rs34876238EnsemblClinVar.1
Natural variantiVAR_003170105K → N in Macedonia-II. 1 PublicationCorresponds to variant dbSNP:rs35717854EnsemblClinVar.1
Natural variantiVAR_073159106L → H in TNCY; hemoglobin F-Brugine/Feldkirch; lowered affinity for oxygen. 1 Publication1
Natural variantiVAR_003171118H → R in Malta-1. 1 PublicationCorresponds to variant dbSNP:rs36049074EnsemblClinVar.1
Natural variantiVAR_015740119F → L in Calabria. 1 PublicationCorresponds to variant dbSNP:rs35020253EnsemblClinVar.1
Natural variantiVAR_003172121K → Q in Caltech. 1 PublicationCorresponds to variant dbSNP:rs34703519EnsemblClinVar.1
Natural variantiVAR_020653122E → K in Carlton. 1 PublicationCorresponds to variant dbSNP:rs63750021EnsemblClinVar.1
Natural variantiVAR_003174126E → A in Port-Royal. 1 PublicationCorresponds to variant dbSNP:rs34997902EnsemblClinVar.1
Natural variantiVAR_003176131W → G in Poole; unstable. 1 PublicationCorresponds to variant dbSNP:rs35826780EnsemblClinVar.1
Natural variantiVAR_003179147H → Y in Onoda; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs34807671EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
M91036 Genomic DNA Translation: AAB59428.1
M91037 Genomic DNA Translation: AAA58492.1
U01317 Genomic DNA Translation: AAA16331.1
V00515 Genomic DNA Translation: CAA23773.1
M15386 mRNA Translation: AAB50159.1 Different initiation.
AY662983 Genomic DNA Translation: AAT98611.1
AK290492 mRNA Translation: BAF83181.1
BC010914 mRNA Translation: AAH10914.1
BC029387 mRNA Translation: AAH29387.1
BC130457 mRNA Translation: AAI30458.1
BC130459 mRNA Translation: AAI30460.1
M11427 mRNA Translation: AAA35957.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS7755.1

Protein sequence database of the Protein Information Resource

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PIRi
A90803 HGHUA

NCBI Reference Sequences

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RefSeqi
NP_000175.1, NM_000184.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.302145
Hs.702189

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000336906; ENSP00000338082; ENSG00000196565

Database of genes from NCBI RefSeq genomes

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GeneIDi
3048

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3048

UCSC genome browser

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UCSCi
uc001maj.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

HbVar

Human hemoglobin variants and thalassemias

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M91036 Genomic DNA Translation: AAB59428.1
M91037 Genomic DNA Translation: AAA58492.1
U01317 Genomic DNA Translation: AAA16331.1
V00515 Genomic DNA Translation: CAA23773.1
M15386 mRNA Translation: AAB50159.1 Different initiation.
AY662983 Genomic DNA Translation: AAT98611.1
AK290492 mRNA Translation: BAF83181.1
BC010914 mRNA Translation: AAH10914.1
BC029387 mRNA Translation: AAH29387.1
BC130457 mRNA Translation: AAI30458.1
BC130459 mRNA Translation: AAI30460.1
M11427 mRNA Translation: AAA35957.1
CCDSiCCDS7755.1
PIRiA90803 HGHUA
RefSeqiNP_000175.1, NM_000184.2
UniGeneiHs.302145
Hs.702189

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FDHX-ray2.50G/H2-147[»]
4MQJX-ray1.80B/D/F/H3-147[»]
4MQKX-ray2.24B/D/F/H2-147[»]
ProteinModelPortaliP69892
SMRiP69892
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109298, 8 interactors
ComplexPortaliCPX-2931 Hemoglobin Portland-1 Variant 2 complex
CPX-2933 Hemoglobin HbF Variant 2 complex
CORUMiP69892
IntActiP69892, 10 interactors
MINTiP69892
STRINGi9606.ENSP00000338082

PTM databases

iPTMnetiP69892
PhosphoSitePlusiP69892

Polymorphism and mutation databases

BioMutaiHBG2
DMDMi56749861

Proteomic databases

EPDiP69892
jPOSTiP69892
MaxQBiP69892
PaxDbiP69892
PeptideAtlasiP69892
PRIDEiP69892
ProteomicsDBi57546

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336906; ENSP00000338082; ENSG00000196565
GeneIDi3048
KEGGihsa:3048
UCSCiuc001maj.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3048
DisGeNETi3048
EuPathDBiHostDB:ENSG00000196565.12

GeneCards: human genes, protein and diseases

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GeneCardsi
ENSG00000239920
HBG2
HGNCiHGNC:4832 HBG2
HPAiCAB016143
HPA043234
MalaCardsiHBG2
MIMi142250 gene
613977 phenotype
neXtProtiNX_P69892
OpenTargetsiENSG00000196565
Orphaneti280615 Hemoglobinopathy Toms River
46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
PharmGKBiPA29207

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3378 Eukaryota
COG1018 LUCA
GeneTreeiENSGT00940000162659
HOVERGENiHBG009709
InParanoidiP69892
KOiK13824
OrthoDBi1370439at2759
PhylomeDBiP69892
TreeFamiTF333268

Enzyme and pathway databases

ReactomeiR-HSA-983231 Factors involved in megakaryocyte development and platelet production
SIGNORiP69892

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HBG2 human
EvolutionaryTraceiP69892

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HBG2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3048

Protein Ontology

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PROi
PR:P69892

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000196565 Expressed in 86 organ(s), highest expression level in stomach
CleanExiHS_HBG2
ExpressionAtlasiP69892 baseline and differential
GenevisibleiP69892 HS

Family and domain databases

CDDicd08925 Hb-beta_like, 1 hit
Gene3Di1.10.490.10, 1 hit
InterProiView protein in InterPro
IPR000971 Globin
IPR009050 Globin-like_sf
IPR012292 Globin/Proto
IPR002337 Haemoglobin_b
PfamiView protein in Pfam
PF00042 Globin, 1 hit
PRINTSiPR00814 BETAHAEM
SUPFAMiSSF46458 SSF46458, 1 hit
PROSITEiView protein in PROSITE
PS01033 GLOBIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHBG2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P69892
Secondary accession number(s): A8MZE0
, P02096, P62027, Q14491, Q68NH9, Q96FH6, Q96FH7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: January 16, 2019
This is version 153 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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