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HBG2 Gene(Protein Coding)

Hemoglobin Subunit Gamma 2

GCID:
GC11M005256
GIFtS:
52
Genes Participants
UDN Logo

Aliases for HBG2 Gene

Aliases for HBG2 Gene

  • Hemoglobin Subunit Gamma 2 2 3 5
  • Hemoglobin Gamma-2 Chain 3 4
  • Hemoglobin Gamma-G Chain 3 4
  • Hemoglobin, Gamma G 2 3
  • Gamma-2-Globin 3 4
  • Hb F Ggamma 3 4
  • Hemoglobin Subunit Gamma-2 3
  • G-Gamma Globin Paulinia 3
  • Abnormal Hemoglobin 3
  • Methemoglobin 3
  • HBG-T1 3
  • TNCY 3

External Ids for HBG2 Gene

Previous GeneCards Identifiers for HBG2 Gene

  • GC11M006018
  • GC11M005572
  • GC11M005229
  • GC11M005216
  • GC11M005235
  • GC11M005230
  • GC11M005274
  • GC11M004934

Summaries for HBG2 Gene

Entrez Gene Summary for HBG2 Gene

  • 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]

GeneCards Summary for HBG2 Gene

HBG2 (Hemoglobin Subunit Gamma 2) is a Protein Coding gene. Diseases associated with HBG2 include Cyanosis, Transient Neonatal and Hemoglobinopathy Toms River. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Factors involved in megakaryocyte development and platelet production. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBG1.

UniProtKB/Swiss-Prot for HBG2 Gene

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

Gene Wiki entry for HBG2 Gene

Additional gene information for HBG2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBG2 Gene

Genomics for HBG2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for HBG2 Gene

Promoters and enhancers for HBG2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11I005254 Promoter/Enhancer 1 EPDnew dbSUPER 550 +391.0 390988 0.1 CC2D1A NFATC3 MLLT1 DPF2 ZNF24 SUPT5H GC11M005254 GC11M005255 HBG2 HBB ENSG00000221031 GC11M005280 GC11P005064
GH11I005287 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 76.2 +357.0 357047 3.2 HDGF ATF1 PKNOX1 SMAD1 NCOA2 TCF12 ZNF766 GATA2 FOS ATF7 HBD HBG2 HBG1 ENSG00000224091 HBBP1 HBB OR51V1 ENSG00000221031 OR52A4P OR51M1
GH11I005274 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 69 +370.2 370248 2.2 HDGF ATF1 ARNT TCF12 POLR2B GATA2 ATF7 NCOA1 ZNF592 MBD2 HBD HBG2 HBB HBG1 HBBP1 ENSG00000221031 OR51V1 OR51B4 GC11M005280 GC11M005254
GH11I005279 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 52 +364.8 364764 2.6 HDGF PKNOX1 SMAD1 ARNT ZNF766 E2F8 FOS DEK JUNB REST GC11M005280 HBG2 HBD HBB ENSG00000221031 OR51B4 HBG1 GC11M005283 GC11P005064 HBE1
GH11I005683 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.7 -39.2 -39197 2.8 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ZNF766 TRIM5 TRIM22 HBG2 TRIM6 OR52D1 OR52N3P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HBG2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HBG2 gene promoter:

Genomic Locations for HBG2 Gene

Genomic Locations for HBG2 Gene
chr11:5,253,190-5,645,789
(GRCh38/hg38)
Size:
392,600 bases
Orientation:
Minus strand
chr11:5,274,420-5,667,019
(GRCh37/hg19)

Genomic View for HBG2 Gene

Genes around HBG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HBG2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HBG2 Gene

Proteins for HBG2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for HBG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P69892-HBG2_HUMAN
    Recommended name:
    Hemoglobin subunit gamma-2
    Protein Accession:
    P69892
    Secondary Accessions:
    • A8MZE0
    • P02096
    • P62027
    • Q14491
    • Q68NH9
    • Q96FH6
    • Q96FH7

    Protein attributes for HBG2 Gene

    Size:
    147 amino acids
    Molecular mass:
    16126 Da
    Quaternary structure:
    • Heterotetramer of two alpha chains and two gamma chains in fetal hemoglobin (Hb F).
    SequenceCaution:
    • Sequence=AAB50159.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HBG2 Gene

neXtProt entry for HBG2 Gene

Protein Expression for HBG2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HBG2 Gene

Other Protein References for HBG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HBG2 Gene

Domains & Families for HBG2 Gene

Gene Families for HBG2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for HBG2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HBG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P69892

UniProtKB/Swiss-Prot:

HBG2_HUMAN :
  • Belongs to the globin family.
Family:
  • Belongs to the globin family.
genes like me logo Genes that share domains with HBG2: view

Function for HBG2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for HBG2 Gene

GENATLAS Biochemistry:
globin,gamma G,fetal (G 136)
UniProtKB/Swiss-Prot Function:
Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.

Phenotypes From GWAS Catalog for HBG2 Gene

Gene Ontology (GO) - Molecular Function for HBG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005344 oxygen carrier activity IEA --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI --
GO:0019825 oxygen binding IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with HBG2: view
genes like me logo Genes that share phenotypes with HBG2: view

Human Phenotype Ontology for HBG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HBG2 Gene

MGI Knock Outs for HBG2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for HBG2 Gene

Localization for HBG2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HBG2 gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HBG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005833 hemoglobin complex IEA --
GO:0072562 blood microparticle HDA,IDA 22516433
genes like me logo Genes that share ontologies with HBG2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HBG2 Gene

Pathways & Interactions for HBG2 Gene

genes like me logo Genes that share pathways with HBG2: view

Pathways by source for HBG2 Gene

2 Qiagen pathways for HBG2 Gene

Gene Ontology (GO) - Biological Process for HBG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0007596 blood coagulation TAS --
GO:0015671 oxygen transport IEA --
genes like me logo Genes that share ontologies with HBG2: view

No data available for SIGNOR curated interactions for HBG2 Gene

Drugs & Compounds for HBG2 Gene

Products:

  1. Drug

(44) Drugs for HBG2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
heme Pharma Agonist 0

(61) Additional Compounds for HBG2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HBG2: view

Transcripts for HBG2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HBG2 Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(50) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HBG2 Gene

Hemoglobin, gamma G:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HBG2 Gene

No ASD Table

Relevant External Links for HBG2 Gene

GeneLoc Exon Structure for
HBG2
ECgene alternative splicing isoforms for
HBG2

Expression for HBG2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HBG2 Gene

mRNA expression in normal human tissues for HBG2 Gene
mRNA expression by GTEx for HBG2 GenemRNA expression by BioGPS for HBG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HBG2 Gene

This gene is overexpressed in Whole Blood (x49.1).

Protein differential expression in normal tissues from HIPED for HBG2 Gene

This gene is overexpressed in Fetal Liver (15.1), Placenta (14.5), Fetal heart (9.6), Fetal gut (8.8), and Fetal testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HBG2 Gene



Protein tissue co-expression partners for HBG2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HBG2 Gene:

HBG2

SOURCE GeneReport for Unigene cluster for HBG2 Gene:

Hs.302145

mRNA Expression by UniProt/SwissProt for HBG2 Gene:

P69892-HBG2_HUMAN
Tissue specificity: Red blood cells.

Evidence on tissue expression from TISSUES for HBG2 Gene

  • Spleen(4.9)
  • Liver(4.8)
  • Lung(4.8)
  • Nervous system(4.8)
  • Bone marrow(4.4)
  • Pancreas(4.4)
  • Blood(4.2)
  • Heart(3.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HBG2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • skeleton
Organs:
Thorax:
  • thymus
Abdomen:
  • liver
  • spleen
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with HBG2: view

Orthologs for HBG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia HBG2 33 34
  • 99.32 (n)
dog
(Canis familiaris)
 Mammalia HBE1 33
  • 84.35 (n)
-- 34
  • 75 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia HBE1 33
  • 84.13 (n)
HBE4 34
  • 74 (a)
 ManyToMany
HBE2 34
  • 71 (a)
 ManyToMany
mouse
(Mus musculus)
 Mammalia Hbb-y 33 16
  • 80.73 (n)
Hbb-bh1 34
  • 76 (a)
 OneToMany
rat
(Rattus norvegicus)
 Mammalia Hbe1 33
  • 80.05 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 76 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 62 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves HBB 34
  • 70 (a)
 ManyToMany
HBE1 34
  • 69 (a)
 ManyToMany
HBG1 34
  • 67 (a)
 ManyToMany
HBE 34
  • 66 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 62 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100037901 33
  • 63.27 (n)
zebrafish
(Danio rerio)
 Actinopterygii hbaa1 34 34
  • 42 (a)
 ManyToMany
hbae3 34
  • 41 (a)
 ManyToMany
hbz 34
  • 41 (a)
 ManyToMany
si:ch211-5k11.6 34
  • 40 (a)
 ManyToMany
hbae1 34 34
  • 38 (a)
 ManyToMany
si:ch211-5k11.2 34
  • 38 (a)
 ManyToMany
Species where no ortholog for HBG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HBG2 Gene

ENSEMBL:
Gene Tree for HBG2 (if available)
TreeFam:
Gene Tree for HBG2 (if available)

Paralogs for HBG2 Gene

Paralogs for HBG2 Gene

(13) SIMAP similar genes for HBG2 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for HBG2 Gene

genes like me logo Genes that share paralogs with HBG2: view

Variants for HBG2 Gene

Sequence variations from dbSNP and Humsavar for HBG2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs104894225 other, HEMOGLOBIN F (WAYNESBORO), HEMOGLOBIN F (LESVOS) 5,254,380(-) A/G coding_sequence_variant, missense_variant
rs281860594 other, HEMOGLOBIN F (MINOO) 5,254,390(-) C/G coding_sequence_variant, missense_variant
rs281864890 other, HEMOGLOBIN F (HEATHER) 5,254,691(-) G/C/T coding_sequence_variant, missense_variant
rs281864891 other, HEMOGLOBIN F (GRANADA), HEMOGLOBIN F (URUMQI) 5,254,661(-) T/A/C coding_sequence_variant, missense_variant
rs281864892 other, HEMOGLOBIN F (AUSTELL) 5,254,485(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for HBG2 Gene

Variant ID Type Subtype PubMed ID
dgv1597n54 CNV loss 21841781
dgv194n67 CNV gain 20364138
esv2648523 CNV deletion 19546169
esv2671356 CNV deletion 23128226
esv2744059 CNV deletion 23290073
esv3547249 CNV deletion 23714750
esv3625218 CNV loss 21293372
esv3625219 CNV loss 21293372
esv3625220 CNV gain 21293372
esv5471 CNV loss 19470904
nsv1036997 CNV gain 25217958
nsv553229 CNV gain 21841781
nsv982977 CNV duplication 23825009
nsv983203 CNV duplication 23825009

Variation tolerance for HBG2 Gene

Residual Variation Intolerance Score: 62.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HBG2 Gene

Human Gene Mutation Database (HGMD)
HBG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HBG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HBG2 Gene

Disorders for HBG2 Gene

MalaCards: The human disease database

(23) MalaCards diseases for HBG2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cyanosis, transient neonatal
  • tncy
hemoglobinopathy toms river
  • transient neonatal cyanosis and anemia due to toms river hemoglobin
fetal hemoglobin quantitative trait locus 1
  • hbfqtl1
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
  • hpfh-beta-thalassemia syndrome
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
  • hpfh-sickle cell disease syndrome
- elite association - COSMIC cancer census association via MalaCards
Search HBG2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HBG2_HUMAN
  • Cyanosis transient neonatal (TNCY) [MIM:613977]: A 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. {ECO:0000269 PubMed:19065339, ECO:0000269 PubMed:21561349, ECO:0000269 PubMed:24502349, ECO:0000269 PubMed:2470017, ECO:0000269 PubMed:2483933, ECO:0000269 PubMed:7741137}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HBG2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HBG2: view

No data available for Genatlas for HBG2 Gene

Publications for HBG2 Gene

  1. A new (G)γ-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)γ105(G7)Leu→His; HBG2: c.317T>A]. (PMID: 24502349) Saller E … Frischknecht H (Hemoglobin 2014) 3 4 58
  2. A hemoglobin variant associated with neonatal cyanosis and anemia. (PMID: 21561349) Crowley MA … Weiss MJ (The New England journal of medicine 2011) 3 4 58
  3. The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients. (PMID: 20472475) Nguyen TK … Francina A (Blood cells, molecules & diseases 2010) 3 44 58
  4. The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter. (PMID: 19050890) Chassanidis C … Kollia P (Annals of hematology 2009) 3 22 58
  5. Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand. (PMID: 18951049) Nuntakarn L … Wiangnon S (Blood cells, molecules & diseases 2009) 3 44 58

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