HBG2 Gene

Aliases
for HBG2 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC11M006018 GC11M005572 GC11M005229 GC11M005216 GC11M005235 GC11M005230 GC11M004934

Summaries
for HBG2 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for HBG2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000011.9  NC_018922.2  NT_009237.19  

SwitchGear Promoter luciferase reporter plasmids (see all 2): HBG2 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HBG2

HBG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M005274:  view genomic region     (about GC identifiers)

Proteins
for HBG2 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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3 PDB 3D structures from and Proteopedia for HBG2:

1FDH (3D)        4MQJ (3D)        4MQK (3D)    

Explore the universe of human proteins at neXtProt for HBG2: NX_P69892

Explore proteomics data for HBG2 at MOPED

Post-translational modifications: 

HBG2 Human Recombinant Protein Products:

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	GeneTex Proteins for HBG2:                       Hemoglobin gamma G Protein (GTX109601-pro)
	antibodies-online proteins for HBG2 (2 products)
	antibodies-online peptides for HBG2

HBG2 Antibody Products:

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	antibodies-online antibodies for HBG2 (6 products)

HBG2 Assay Products:

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	antibodies-online kits for HBG2

Domains /
Families
for HBG2 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P69892

Find genes that share domains with HBG2           About GenesLikeMe

Function
for HBG2 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 4 molecular function terms:    About this table

genOway: Develop your customized and physiologically relevant rodent model for HBG2

miRNA Products:		Block miRNA regulation of human, mouse, rat HBG2 using miScript Target Protectors
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		Predesigned siRNA for gene silencing in human, mouse, rat HBG2

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for HBG2

Clone Products:		OriGene clones in human, mouse for HBG2 (see all 5) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HBG2
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HBG2
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBG2

Flow Cytometry Products:

eBioscience FlowRNA Probe Sets ( VA1-10053) for HBG2

Localization
for HBG2 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
cytosol	4
nucleus	2
plasma membrane	2
extracellular	1

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Gene Ontology (GO): 3 cellular component terms:    About this table

Pathways & Interactions
for HBG2 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for HBG2 About     See pathways by source

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	SuperPath	Contained pathways About
1	p70S6K Signaling	p70S6K Signaling 0.60
2	Hemostasis	Hemostasis 0.43
3	IL-2 Pathway	IL-4 Pathway 0.34
4	Factors involved in megakaryocyte development and platelet production	Factors involved in megakaryocyte development and platelet production

2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HBG2

	p70S6K Signaling
	IL-4 Pathway

1 Reactome Pathway for HBG2

Factors involved in megakaryocyte development and platelet production

Gene Ontology (GO): 1 biological process term:    About this table

Drugs & Compounds
for HBG2 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for HBG2 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for HBG2 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HBG2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

Primer Products:		OriGene qPCR primer pairs and template standards for HBG2 OriGene qSTAR qPCR primer pairs in human, mouse for HBG2
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		QuantiFast Probe-based Assays in human, mouse, rat HBG2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBG2

Orthologs
for HBG2 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for HBG2 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for HBG2 gene

HBE1²  HBZ²  HBG1²  HBD²  HBA2²  HBB²  HBQ1²  HBA1²  

HBM²  

13 SIMAP similar genes for HBG2 using alignment to 9 protein entries:     HBG2_HUMAN (see all proteins):

HBG1    G-gamma    HBD/HBB    HBE1    HBD    HBB

HBA2    HBA1    HBZ    HBM    HBQ1    CYGB

MB

Find genes that share paralogs with HBG2           About GenesLikeMe


1 Pseudogenes.org Pseudogene for HBG2
PGOHUM00000242142

Genomic Variants
for HBG2 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HBG2 (see all 252)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs351034591,2,,4	C	Cyanosis transient neonatal (TNCY)4 pathogenic1	5189814(-)	AACTGC/TACTGT	2	H Y	mis1		0	--	--	--	--
VAR_0031544		Cyanosis transient neonatal (TNCY)4	--	see VAR_003154	2	H Y	mis4		0	--	--	--	--
VAR_0659504		Cyanosis transient neonatal (TNCY)4	--	see VAR_065950	2	V M	mis4		0	--	--	--	--
VAR_0253364		Cyanosis transient neonatal (TNCY)4	--	see VAR_025336	2	H L	mis4		0	--	--	--	--
VAR_0031464		Cyanosis transient neonatal (TNCY)4	--	see VAR_003146	2	F S	mis4		0	--	--	--	--
rs344741041,2	C	pathogenic1	5189901(-)	AGGCAC/TATGGC	2	H Y	mis1		0	--	--	--	--
rs348789131,2	C	pathogenic1	5189966(-)	GAGGTC/TCTTTG	2	S F	mis1		0	--	--	--	--
rs637506541,2	C	pathogenic1	5190440(-)	GCAAAC/TATCTG	1	--	us2k1		0	--	--	--	--
rs356179111,2	C	pathogenic1	5190467(-)	GGGGCC/GCCTTC	1	--	us2k1		0	--	--	--	--
rs2818645751,2	C	untested1	5188765(-)	ATACCA/GCTGAG	2	H R	mis1		0	--	--	--	--

HapMap Linkage Disequilibrium report for HBG2 (5274420 - 5524420 bp, first 250kb of HBG2)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for HBG2:    About this table    

Variant ID	Type	Subtype	PubMed ID
esv2648523	CNV	Deletion	19546169
esv2744059	CNV	Deletion	23290073
esv2671356	CNV	Deletion	23128226
esv5471	CNV	Loss	19470904
nsv896930	CNV	Gain	21882294
dgv194n67	CNV	Gain	20364138

Human Gene Mutation Database (HGMD): HBG2
Locus Specific Mutation Databases (LSDB): HBG2

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing HBG2

DNA2.0 Custom Variant and Variant Library Synthesis for HBG2

Disorders / Diseases
for HBG2 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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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. Note=The disease is caused by mutations affecting the gene represented

in this entry

19 diseases for HBG2:    
About MalaCards

Selected Novoseek inferred disease relationships for HBG2 gene (see all 61)    About this table

Publications
for HBG2 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. (PubMed id 18667698)^{1, 4, 9} Lettre G....Orkin S.H. (Proc. Natl. Acad. Sci. U.S.A. 2008)
2. A hemoglobin variant associated with neonatal cyanosis and anemia. (PubMed id 21561349)^{1, 2} Crowley M.A.... Weiss M.J. (N. Engl. J. Med. 2011)
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. (PubMed id 20472475)^{1, 4} Nguyen T.K....Francina A. (amp 2010)
4. Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand. (PubMed id 18951049)^{1, 4} Nuntakarn L....Wiangnon S. (amp 2009)
5. Variation and heritability of Hb F and F-cells among beta-thalassemia heterozygotes in Hong Kong. (PubMed id 18266208)^{1, 4} Gibney G.T....Chui D.H. (Am. J. Hematol. 2008)
6. Molecular basis of thalassemia intermedia in Iran. (PubMed id 18932071)^{1, 4} Akbari M.T....Kleanthous M. (Hemoglobin 2008)
7. Influence of Ggamma-158C --&gt; and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects. (PubMed id 16956833)^{1, 4} Guida V....Dallapiccola B. (Haematologica 2006)
8. A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)Val-->Ala]. (PubMed id 16370494)^{1, 2} Lacan P.... Francina A. (Hemoglobin 2005)
9. Severe hereditary haemolytic anaemia in a Caucasian newborn: a new fetal haemoglobin variant Hb F-Bonheiden ((G)gamma 38(C4) Thr-->Pro). (PubMed id 15645283)^{1, 2} Van den Driessche M.... Philippe M. (Eur. J. Pediatr. 2005)
10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)

External Searches for HBG2 gene

Genome Databases showing HBG2 gene

Other Databases showing HBG2 gene

Specialized Databases showing HBG2 gene

Products
for HBG2 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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