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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HBG2 Gene

protein-coding GIFtS: 61
GCID: GC11M005274

Hemoglobin, Gamma G

Microbiology & Infectious Diseases Congress

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Hemoglobin, Gamma G¹ ²		G-Gamma Globin Paulinia²
Hb F Ggamma² ³		gamma-2-globin²
Hemoglobin Gamma-2 Chain² ³		Hemoglobin Subunit Gamma-2²
Hemoglobin Gamma-G Chain² ³		methemoglobin²
TNCY²		Gamma-2-globin³
Abnormal Hemoglobin²

External Ids:	HGNC: 4832¹	Entrez Gene: 3048²	Ensembl: ENSG00000196565⁷	OMIM: 142250⁵	UniProtKB: P69892³

Export aliases for HBG2 gene to outside databases

Previous GC identifers: GC11M006018 GC11M005572 GC11M005229 GC11M005216 GC11M005235 GC11M005230 GC11M004934

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, gamma G) is a protein-coding gene. Diseases associated with HBG2 include sulfhemoglobinemia, and cavernous hemangioma, and among its related super-pathways are Renin-Angiotensin Pathway and Platelet activation, signaling and aggregation. GO annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBE1.

UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892

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

Gene Wiki entry 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.2 NT_009237.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HBG2 gene promoter:
TBP TFIID c-Myb HNF-4alpha1 GATA-1
Other transcription factors

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

Search SABiosciences Chromatin IP Primers for HBG2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HBG2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5 Ensembl cytogenetic band: 11p15.4 HGNC cytogenetic band: 11p15.5

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

GeneLoc information about chromosome 11 GeneLoc Exon Structure

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

Start:	5,274,420 bp from pter	End:	5,667,019 bp from pter
Size:	392,600 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892 (See protein sequence)

Recommended Name: Hemoglobin subunit gamma-2

Size: 147 amino acids; 16126 Da

Subunit: Heterotetramer of two alpha chains and two gamma chains in fetal hemoglobin (Hb F)

Developmental stage: Expressed until four or five weeks after birth

Sequence caution: Sequence=AAB50159.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

1 PDB 3D structure from and Proteopedia for HBG2:

1FDH (3D)

Secondary accessions: A8MZE0 P02096 P62027 Q14491 Q68NH9 Q96FH6 Q96FH7

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

Explore proteomics data for HBG2 at MOPED

Post-translational modifications:

UniProtKB: Acetylation of Gly-2 converts Hb F to the minor Hb F1

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P69892

HBG2 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_000175.1

ENSEMBL proteins:

ENSP00000369602 ENSP00000369609 ENSP00000390765 ENSP00000338082

Reactome Protein details: P69892
Human Recombinant Protein Products for HBG2:

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	ProSpec Recombinant Protein for HBG2
	Browse Proteins at Cloud-Clone Corp.

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0005833	hemoglobin complex	IEA	--

HBG2 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

4 InterPro protein domains:

IPR012292 Globin_dom

IPR009050 Globin-like

IPR000971 Globin

IPR002337 Haemoglobin_b

Graphical View of Domain Structure for InterPro Entry P69892

ProtoNet protein and cluster: P69892

2 Blocks protein domains:

IPB001032 Leghaemoglobin

IPB002337 Beta haemoglobin signature

UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892

Similarity: Belongs to the globin family

HBG2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: HBG2_HUMAN, P69892

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

Genatlas biochemistry entry for HBG2:

globin,gamma G,fetal (G 136)

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005344	oxygen transporter activity	IEA	--
GO:0005506	iron ion binding	IEA	--
GO:0019825	oxygen binding	IEA	--
GO:0020037	heme binding	IEA	--

HBG2 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for HBG2:

Increased G2M DNA content, inc

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for HBG2

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HBG2

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HBG2

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. 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

(Pathways according to EMD Millipore, 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 GeneDecks, Interaction Networks according to SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for HBG2 About

See pathways by source

SuperPath

Contained pathways About

p70S6K Signaling

p70S6K Signaling

0.60

Platelet activation, signaling and aggregation

Hemostasis

0.43

ErbB4 Pathway

IL-4 Pathway

0.34

Factors involved in megakaryocyte development and platelet production

Factors involved in megakaryocyte development and platelet production

Pathways by source See SuperPaths
Show all pathways

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HBG2

	p70S6K Signaling
	IL-4 Pathway

2 Reactome Pathways for HBG2

	Hemostasis
	Factors involved in megakaryocyte development and platelet production

HBG2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for HBG2

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/14 Interacting proteins for HBG2 (P69892^{2, 3} ENSP00000338082⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 14)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HBA1	P69905²^,³, ENSP00000322421⁴	MINT-24785 I2D: score=2 STRING: ENSP00000322421
HBA2	P69905²^,³, ENSP00000251595⁴	MINT-24785 I2D: score=2 STRING: ENSP00000251595
CYB5R3	P00387³, ENSP00000338461⁴	I2D: score=1 STRING: ENSP00000338461
HBB	P68871³, ENSP00000333994⁴	I2D: score=1 STRING: ENSP00000333994
SMAD5	Q99717³	I2D: score=3

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007596	blood coagulation	TAS	--

HBG2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HBG2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HBG2

2 HMDB Compounds for HBG2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Oxygen	Oxygen (see all 5)	7782-44-7	--

10/104 Novoseek inferred chemical compound relationships for HBG2 gene (see all 104) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
benzocaine	86.9	18	8644973 (2), 16382850 (2), 8092589 (2), 1601230 (1) (see all 13)
methylene	77.3	49	10397228 (5), 15753496 (2), 14647658 (2), 9776968 (2) (see all 32)
sodium nitrite	75.3	19	8956097 (2), 2093192 (1), 17065881 (1), 2254586 (1) (see all 17)
oxygen	71.5	141	10956082 (3), 14632342 (2), 15753496 (2), 16517943 (2) (see all 99)
n,n-dimethylhydroxylamine	71.5	1	2156749 (1)
sulofenur	70.3	5	1433369 (2), 1676639 (1), 14654534 (1)
no-dimethylhydroxylamine	69.3	1	11042038 (1)
phenazopyridine	67.4	1	12901999 (1)
nitric oxide	66.7	149	12536266 (6), 10809266 (5), 2093192 (4), 9681784 (4) (see all 76)
dapsone	66.7	12	19998329 (3), 14647658 (2), 7931458 (2), 16794511 (1) (see all 8)

Search CenterWatch for drugs/clinical trials and news about HBG2

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HBG2 gene:

NM_000184.2

Unigene Cluster for HBG2:

Hemoglobin, gamma G

Hs.302145 [show with all ESTs]

Unigene Representative Sequence: DQ656066

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000380252 ENST00000380259(uc001mai.1 uc001maj.1 uc001mak.1)

ENST00000444587 ENST00000336906

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HBG2
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Clone Products:		OriGene clones in human, mouse for HBG2 (see all 6) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HBG2

Additional mRNA sequence:

AF110493.1 AK290492.1 BC029387.1 BC130457.1 BC130459.1 DQ656066.1 DQ656067.1 M11427.1

M15386.1 X55656.1 X55657.1

24/40 DOTS entries (see all 40):

DT.95186195 DT.95221675 DT.98083189 DT.91786228 DT.100890392 DT.95371917 DT.95298167 DT.75131589

DT.95230852 DT.100044348 DT.95180915 DT.100806001 DT.120723250 DT.100774732 DT.91866943 DT.91790886

DT.95092533 DT.87014143 DT.95323075 DT.95124981 DT.101983809 DT.120723406 DT.95102656 DT.99999120

24/50 AceView cDNA sequences (see all 50):

CR595029 CR604223 CR615907 CR614139 CR602897 CR593826 CR594576 CR619706

CR593357 CR626466 CR610392 CR622267 NM_000559 NM_000184 CR607395 CR593470

AF110493 CR609361 CR626417 CR625875 CR595535 CR593022 CR603041 CR599317

GeneLoc Exon Structure

(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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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

See HBG2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HBG2

SOURCE GeneReport for Unigene cluster: Hs.302145

UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892

Tissue specificity: Red blood cells

SABiosciences Custom PCR Arrays for HBG2

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HBG2

(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for HBG2 gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Hbb-y¹	hemoglobin Y, beta-like embryonic chain	80.73(n) 76.19(a)		15135 NM_008221.4 NP_032247.1
chicken (Gallus gallus)	Aves	HBB⁶ GGA.4981⁶ (see all 5)	epsilon globin (see all 5)	70(a) 69(a) (see all 5)	many ↔ many many ↔ many (see all 5)	1(193723743-193726040) 1(193720895-193722856)
lizard (Anolis carolinensis)	Reptilia	-- --	Uncharacterized protein	62(a) 22(a)	1 ↔ many possible ortholog	GL344018.1(38428-41710) AAWZ02037681(694-2432)
zebrafish (Danio rerio)	Actinopterygii	zgc:92880⁶ hbbe2⁶ (see all 7)	hemoglobin beta embryonic-2 (see all 7)	56(a) 52(a) (see all 7)	many ↔ many many ↔ many (see all 7)	3(55942977-55943592) 12(21702358-21703122)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

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

HBG2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for HBG2
PGOHUM00000242142

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
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	--	--	--	--
rs35103459^1,2,4	C	Cyanosis transient neonatal (TNCY)⁴ pathogenic¹	5189814(-)	`AACTGC/TACTGT`	2	H Y	mis¹		0	--	--	--	--
rs34474104^1,2	C	pathogenic¹	5189901(-)	`AGGCAC/TATGGC`	2	H Y	mis¹		0	--	--	--	--
rs34878913^1,2	C	pathogenic¹	5189966(-)	`GAGGTC/TCTTTG`	2	S F	mis¹		0	--	--	--	--
rs63750654^1,2	C	pathogenic¹	5190440(-)	`GCAAAC/TATCTG`	1	--	us2k¹		0	--	--	--	--
rs35617911^1,2	C	pathogenic¹	5190467(-)	`GGGGCC/GCCTTC`	1	--	us2k¹		0	--	--	--	--
rs281864575^1,2	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

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 142250
OMIM disorders: 141749
UniProtKB/Swiss-Prot: HBG2_HUMAN, P69892

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

20/79 diseases for HBG2 (see all 79): About MalaCards

sulfhemoglobinemia cavernous hemangioma congenital methemoglobinemia methemoglobinemia

subependymoma fetal hemoglobin quantitative trait locus 1 beta thalassemia congenital hemolytic anemia

hemoglobin s beta-thalassemia status asthmaticus thalassemia hereditary persistence of fetal hemoglobin

iron deficiency anemia reye syndrome sickle cell disease alpha thalassemia

hemangioma cerebral hemorrhage respiratory failure hemoglobinopathy

3 diseases from the University of Copenhagen DISEASES database for HBG2:

Thalassemia Sickle cell anemia Anemia

HBG2 for disorders About GeneDecksing

10/61 Novoseek inferred disease relationships for HBG2 gene (see all 61) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
methemoglobinemia	96.3	48	14647658 (2), 9298047 (2), 7931458 (2), 8363684 (1) (see all 38)
methemoglobinemia acquired	92.4	2	15342970 (1), 10870338 (1)
sulfhemoglobinemia	81.9	1	15886294 (1)
methemoglobinemia hereditary	80.6	1	8657061 (1)
hemolysis	70.7	28	19135990 (2), 18702879 (2), 7679879 (1), 8090078 (1) (see all 20)
g6pd deficiency	67.6	5	9523930 (2), 19726375 (1), 1523481 (1)
hypertension pulmonary	52.7	4	12161242 (1), 11969358 (1), 8771498 (1), 9233741 (1)
poisoning	51.1	17	8353957 (1), 15208879 (1), 17145698 (1), 2067134 (1) (see all 14)
sickle cell disease	50.7	3	2393709 (1), 9545536 (1), 18667698 (1)
anemia hemolytic	48.1	3	12006477 (1), 16132702 (1), 14654534 (1)

Genetic Association Database (GAD): HBG2
Human Genome Epidemiology (HuGE) Navigator: HBG2 (7 documents)

Export disorders for HBG2 gene to outside databases

(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)
About This Section

PubMed articles for HBG2 gene, integrated from 9 sources (see all 756):
(articles sorted by number of sources associating them with HBG2)

Utopia: connect your pdf to the dynamic
world of online information

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. (2008)
A hemoglobin variant associated with neonatal cyanosi s and anemia. (PubMed id 21561349)^{1, 2} Crowley M.A....Weiss M.J. (2011)
The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalas semia intermedia patients. (PubMed id 20472475)^{1, 4} Nguyen T.K....Francina A. (2010)
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. (2009)
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. (2008)
Molecular basis of thalassemia intermedia in Iran. (PubMed id 18932071)^{1, 4} Akbari M.T....Kleanthous M. (2008)
Influence of Ggamma-158C --> 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. (2006)
A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)Val-->Ala]. (PubMed id 16370494)^{1, 2} Lacan P.... Francina A. (2005)
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. (2005)
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. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3048	HGNC: 4832	AceView: HBG2andHBG1	Ensembl:ENSG00000196565	euGenes: HUgn3048
ECgene: HBG2	H-InvDB: HBG2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HBG2	Pharmacogenomics, SNPs, Pathways
HbVar	http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBG2

Intellectual Property for HBG2 gene
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Patent Information for HBG2 gene:
Search GeneIP for patents involving HBG2

GeneCards and IP:
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Hemoglobin, Gamma G

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Shock Septic
G6PD DEFICIENCY
Telangiectasia
Cirrhosis
Hemangioma
Critically Ill
sepsis
Venous Thrombosis
Anemia Hemolytic
Sulfhemoglobinemia
Leukocytosis
Bradycardia
TOXICITY RENAL
INFARCT
Vasospasm
Oxygen Deficiency
Intoxication
Respiratory Distress Syndrome
Iron deficiency anemia
Methemoglobinemia
beta-Thalassemia
Asthma
CONGENITAL HEART DISEASE
Calcification
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Hypertension Pulmonary
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Respiratory Depression
intracranial hematoma
Granulomatous Disease Chronic
Shock
Heart Diseases
Bleeding
HEMATOLOGIC DISORDERS
Inflammation
Cerebral Vasospasm
Lung diseases
SICKLE CELL DISEASE
Arrhythmia
metabolic acidosis
Methemoglobinemia acquired
SKIN LESION
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Acute respiratory distress
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prostate cancer
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HBG2 Gene

Hemoglobin, Gamma G

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