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HBA2 Gene

protein-coding GIFtS: 62

GC16P000162

hemoglobin, alpha 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
Alpha-globin ^³

Descriptions
Hemoglobin alpha chain ^³
alpha 2 globin ^²
alpha globin ^²
alpha-2 globin ^²
hemoglobin, alpha 2 ^²

External Ids
HGNC: 4824¹
Entrez Gene: 3040²
UniProtKB: P69905³
Ensembl: ENSG00000188536⁷

Search outside databases for aliases for HBA2 gene

Previous GC identifers: GC16P000242 GC16P000157 GC16P000160

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

EntrezGene summary for HBA2:

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven

loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The

alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over

the 5' untranslated regions and the introns, but they differ significantly over the 3'

untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult

life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to

constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin.

Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both

HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq]

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905

Function: Involved in oxygen transport from the lung to the various peripheral tissues

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the HBA2 gene

Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3

HBA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P000162: (about GC identifiers)

Start:	162,875 bp from pter
End:	163,709 bp from pter
Size:	835 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000016.8 NT_037887.4

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905 (See protein sequence)

Recommended Name: Hemoglobin subunit alpha

Size: 142 amino acids; 15258 Da

Subunit: Heterotetramer of two alpha chains and two beta chains in adult hemoglobin A (HbA); two

alpha chains and two delta chains in adult hemoglobin A2 (HbA2); two alpha chains and two epsilon

chains in early embryonic hemoglobin Gower-2; two alpha chains and two gamma chains in fetal

hemoglobin F (HbF)

Miscellaneous: Gives blood its red color

PDB structures from and Proteopedia :

1A00 (3D)

1A01 (3D)

1A0U (3D)

1A0Z (3D)

1A3N (3D)

1A3O (3D)

1A9W (3D)

1ABW (3D)

1ABY (3D)

1AJ9 (3D)

1B86 (3D)

1BAB (3D)

1BBB (3D)

1BIJ (3D)

1BUW (3D)

1BZ0 (3D)

1BZ1 (3D)

1BZZ (3D)

1C7B (3D)

1C7C (3D)

1C7D (3D)

1CLS (3D)

1CMY (3D)

1COH (3D)

1DKE (3D)

1DXT (3D)

1DXU (3D)

1DXV (3D)

1FDH (3D)

1FN3 (3D)

1G9V (3D)

1GBU (3D)

1GBV (3D)

1GLI (3D)

1GZX (3D)

1HAB (3D)

1HAC (3D)

1HBA (3D)

1HBB (3D)

1HBS (3D)

1HCO (3D)

1HDB (3D)

1HGA (3D)

1HGB (3D)

1HGC (3D)

1HHO (3D)

1IRD (3D)

1J3Y (3D)

1J3Z (3D)

1J40 (3D)

1J41 (3D)

1J7S (3D)

1J7W (3D)

1J7Y (3D)

1JY7 (3D)

1K0Y (3D)

1K1K (3D)

1KD2 (3D)

1LFL (3D)

1LFQ (3D)

1LFT (3D)

1LFV (3D)

1LFY (3D)

1LFZ (3D)

1LJW (3D)

1M9P (3D)

1MKO (3D)

1NEJ (3D)

1NIH (3D)

1NQP (3D)

1O1I (3D)

1O1J (3D)

1O1K (3D)

1O1L (3D)

1O1M (3D)

1O1N (3D)

1O1O (3D)

1O1P (3D)

1QI8 (3D)

1QSH (3D)

1QSI (3D)

1QXD (3D)

1QXE (3D)

1R1X (3D)

1R1Y (3D)

1RPS (3D)

1RQ3 (3D)

1RQ4 (3D)

1RQA (3D)

1RVW (3D)

1SDK (3D)

1SDL (3D)

1SHR (3D)

1SI4 (3D)

1THB (3D)

1UIW (3D)

1VWT (3D)

1XXT (3D)

1XY0 (3D)

1XYE (3D)

1XZ2 (3D)

1XZ4 (3D)

1XZ5 (3D)

1XZ7 (3D)

1XZU (3D)

1XZV (3D)

1Y01 (3D)

1Y09 (3D)

1Y0A (3D)

1Y0C (3D)

1Y0D (3D)

1Y0T (3D)

1Y0W (3D)

1Y22 (3D)

1Y2Z (3D)

1Y31 (3D)

1Y35 (3D)

1Y45 (3D)

1Y46 (3D)

1Y4B (3D)

1Y4F (3D)

1Y4G (3D)

1Y4P (3D)

1Y4Q (3D)

1Y4R (3D)

1Y4V (3D)

1Y5F (3D)

1Y5J (3D)

1Y5K (3D)

1Y7C (3D)

1Y7D (3D)

1Y7G (3D)

1Y7Z (3D)

1Y83 (3D)

1Y85 (3D)

1Y8W (3D)

1YDZ (3D)

1YE0 (3D)

1YE1 (3D)

1YE2 (3D)

1YEN (3D)

1YEO (3D)

1YEQ (3D)

1YEU (3D)

1YEV (3D)

1YFF (3D)

1YG5 (3D)

1YGD (3D)

1YGF (3D)

1YH9 (3D)

1YHE (3D)

1YHR (3D)

1YIE (3D)

1YIH (3D)

1YVQ (3D)

1YVT (3D)

1YZI (3D)

1Z8U (3D)

2D5Z (3D)

2D60 (3D)

2DN1 (3D)

2DN2 (3D)

2DN3 (3D)

2DXM (3D)

2H35 (3D)

2HBC (3D)

2HBD (3D)

2HBE (3D)

2HBF (3D)

2HBS (3D)

2HCO (3D)

2HHB (3D)

2HHD (3D)

2HHE (3D)

2W6V (3D)

2W72 (3D)

2YRS (3D)

3B75 (3D)

3D17 (3D)

3D7O (3D)

3HHB (3D)

4HHB (3D)

6HBW (3D)

Secondary accessions: P01922 Q1HDT5 Q3MIF5 Q53F97 Q96KF1 Q9NYR7 Q9UCM0

Post-translational modifications:

The initiator Met is not cleaved in variant Thionville and is acetylated¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000508.1

ENSEMBL proteins:

ENSP00000380908 ENSP00000251595

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for HBA2
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Hemoglobin A1c)
	Human Recombinant Proteins from Abnova (HBA2)

OriGene Purified Recombinant Human Protein: HBA2

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005833	hemoglobin complex	TAS	7555018
GO:0022627	cytosolic small ribosomal subunit	IDA	8706699

About this table

Antibodies for HBA2:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of HBA2
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Hemoglobin A1c), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for HBA2

Assays for HBA2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry P69905

ProtoNet protein and cluster: P69905

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905

Similarity: Belongs to the globin family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HBA2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000517

Applied Biosystems Silencer® siRNAs for HBA2

Sigma-Aldrich siRNA for HBA2

Sigma-Aldrich shRNA for HBA2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000517
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000517
untagged cDNA clone in CMV expression vector: NM_000517

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000517

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905

Function: Involved in oxygen transport from the lung to the various peripheral tissues

Genatlas biochemistry entry for HBA2:

hemoglobin,alpha 2,adult

4 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Hba-a1):

behavior/neurological

hematopoietic system

homeostasis/metabolism

muscle

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005344	oxygen transporter activity	IEA	--
GO:0005515	protein binding	TAS	7518430
GO:0019825	oxygen binding	IEA	--
GO:0020037	heme binding	IEA	--
GO:0046872	metal ion binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for HBA2

5/11 Interacting proteins for HBA2 (ENSP00000251595³ P69905^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 11 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HBB	P68871¹^,²	EBI-714680, EBI-715554 MINT-24813 EBI-714680, EBI-715554 MINT-24813
AHSP	Q9NZD4¹	EBI-714680, EBI-720250
HBB	P68871¹^,²	EBI-714680, EBI-715554 MINT-24813 EBI-714680, EBI-715554 MINT-24813
CTSD	P07339²	MINT-3974347
HBG2	P69892²	MINT-24785

About this table

2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	IEA	--
GO:0015671	oxygen transport	TAS	7518430

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for HBA2:

Antagonist Allosteric Modulator

Browse Tocris compounds for HBA2
10/13 Novoseek chemical compound relationships for HBA2 gene (see all 13 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
23-diphosphoglycerate	46.01	3
iron	42.17	10	12358889 (3), 18676996 (1), 1985702 (1), 1737090 (1) (see all 8)
poly c	26.06	1	10606523 (1)
isoleucine	19.13	1	2023247 (1)
methionine	18.48	2	8580853 (2)
oxygen	15.77	7	2023247 (2), 1427042 (1), 11035948 (1), 19205974 (1) (see all 5)
tyrosine	2.40	1	10606523 (1)
atp	0.00	8	17954975 (2), 8071345 (2), 8718881 (1)
oligonucleotide	0.00	2	7937139 (1), 15607220 (1)
threonine	0.00	1	16840225 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HBA2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000517

Sigma-Aldrich siRNA for HBA2

Sigma-Aldrich shRNA for HBA2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000517

REFSEQ mRNAs for HBA2 gene:

NM_000517.4

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000517

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000517
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000517
                                 untagged cDNA clone in CMV expression vector: NM_000517

Additional cDNA sequence:

AF097635.1 AF147332.1 BC005931.1 BC008572.1 BC032122.2 BC050661.1 CR590384.1 CR590419.1

CR590719.1 CR591330.1 CR592289.1 CR592332.1 CR592452.1 CR592662.1 CR593261.1 CR593790.1

CR594781.1 CR595530.1 CR595536.1 CR597255.1 CR597819.1 CR599410.1 CR600653.1 CR601289.1

CR601323.1 CR603287.1 CR603647.1 CR606337.1 CR606457.1 CR606669.1 CR607347.1 CR608113.1

CR608818.1 CR610186.1 CR610372.1 CR612540.1 CR612601.1 CR613529.1 CR613936.1 CR614093.1

CR616339.1 CR616628.1 CR617808.1 CR618113.1 CR618898.1 CR624459.1 CR624742.1 CR624781.1

CR624782.1 DQ655926.2 DQ655927.2 V00493.1

24/53 DOTS entries (see all 53 ):

DT.100763115 DT.87006562 DT.100860413 DT.95073457 DT.92474555 DT.87007649 DT.454828 DT.95275573

DT.87005366 DT.95275550 DT.92474442 DT.100854998 DT.86992853 DT.95235785 DT.95275514 DT.95275579

DT.100863766 DT.100833672 DT.100831289 DT.40314843 DT.100758729 DT.100758728 DT.120689527 DT.120689423

24/2898 AceView cDNA sequences (see all 2898 ):

CR604936 R96602 CR616078 CR595290 N71541 CR602364 AA343399 AA341705

CR607972 CR625613 AA339876 AA358935 N58759 N66017 AA300349 T56116

CD608967 R29700 BU071139 R77923 CR620969 AA343098 CR610372 AA339774

highest scoring ESTs for HBA2:

AA333914 BX337678 BX396313 AA610332 AF097635 BC008572 BE703075 BX436185 V00493 T48422

Unigene Cluster for HBA2:

Hemoglobin, alpha 2

Hs.654744 [show with all ESTs]

Unigene Representative Sequence: BI771544

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for HBA2

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b
SP1:
SP2:					-

About this scheme

ECgene alternative splicing isoforms for HBA2

2 Ensembl transcripts including schematic representations:

ENST00000397806 ENST00000251595

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

HBA2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for HBA2

¹ / ² / ³

13 probe-sets matching HBA2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
31525_s_at²^{, 3}	U95-A	2	1.00	0.50	1.00	1.00	J00153	0.20	0.33	0.27	1
214414_x_at²^{, 3}	U133-A	2	1.00	0.59	--	--	T50399	0.20	0.25	0.23	2
217414_x_at²	U133-A	2	1.00	0.55	--	--	--	--	--	--	--
209458_x_at²^{, 3}	U133-A	2	1.00	0.50	--	--	AF105974	0.40	0.38	0.39	2
204018_x_at²^{, 3}	U133-A	2	1.00	0.50	--	--	NM_000558	0.40	0.50	0.45	1
211745_x_at²^{, 3}	U133-A	2	1.00	0.50	--	--	BC005931	0.40	0.38	0.39	2
211699_x_at²^{, 3}	U133-A	2	1.00	0.50	--	--	AF349571	0.40	0.38	0.39	2
214414_x_at²	U133Plus2	2	1.00	0.59	--	--	--	--	--	--	--
217414_x_at²	U133Plus2	2	1.00	0.55	--	--	--	--	--	--	--
209458_x_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--
204018_x_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--
211745_x_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--
211699_x_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CCCAACGCGC

SOURCE GeneReport for Unigene cluster: Hs.654744
UniProtKB/Swiss-Prot: HBA_HUMAN, P69905
Tissue specificity: Red blood cells

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for HBA2 gene from 5 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
rat (Rattus norvegicus)	LOC360504¹	--	hemoglobin alpha 2 chain	79.81(n) 78.87(a)	360504 NM_001007722.1 NP_001007723.1
mouse (Mus musculus)	Hba-a1^{1, 5}	11 (16.00 cM)⁵	hemoglobin alpha, adult chain 1^{1, 5}	80.75(n)¹ 85.92(a)¹	15122¹ NM_008218.1¹ NP_032244.1¹ AK003077⁵ AK010923⁵ (see all 71)
chicken (Gallus gallus)	HBA1¹	--	hemoglobin, alpha 1	73.94(n) 70.42(a)	416652 NM_001004376.2 NP_001004376.1
African clawed frog (Xenopus laevis)	X02798.1²	--	--	74.06(n)	X02798.1
rainbow trout (Oncorhynchus mykiss)	D88113.1²	--	--	74.31(n)	D88113.1

About this table Species with no ortholog for HBA2

ENSEMBL Gene Tree for HBA2

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

Paralogs for HBA2 gene

HBA1¹ ² HBQ1² HBZ² HBM² HBZP²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/317 NCBI SNPs in HBA2 are shown (see all 317 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 24)

AB	SNP ID	Valid	Chr 16 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2974771^1,2	C,F,H	161057(+)	`ATACCC/TGTGTA`	1	--	ng5¹		12		EU EA WA	1258
--	rs3209623^1,2	C,F	163618(+)	`TAGCCG/ATTCCT`	1	--	ut3¹ ese³		1		MN	184
--	rs33966883^1,2	C	163181(+)	`AGCCAA/C/GGGCTC`	2	H/Q	mis¹		0	--	--	--	--
--	rs33926206^1,2	C	163281(+)	`CCCTGA/C/GGCGAC`	2	S/R S/G	mis¹		0	--	--	--	--
--	rs33960522^1,2	C	163182(+)	`GCCACA/C/GGCTCT`	2	G/S G/R	mis¹		0	--	--	--	--
--	rs33976776^1,2	C	163291(+)	`CCTGCA/C/GCGCGC`	2	H/P H/R	mis¹		0	--	--	--	--
--	rs33985574^1,2	C	163214(+)	`AAGAAC/G/TGTGGC`	2	K/N	mis¹		0	--	--	--	--
--	rs34019158^1,2	C	163261(+)	`CATGCA/C/GCAACG`	2	P/H P/R	mis¹		0	--	--	--	--
--	rs33939620^1,2	C	162981(+)	`CTGGCA/C/G/T AGTAT`	3	E/K E/Q E/X	mis¹ non¹		0	--	--	--	--
--	rs33949106^1,2	C	163198(+)	`GGTTAA/C/GGGGCC`	2	K/T K/R	mis¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for HBA2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 141850

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905

Defects in HBA1/HBA2 may be a cause of Heinz body anemias [MIM:140700]. This is a form of

non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit,

basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before

splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably

instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are

observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with

glutathione peroxidase deficiency

Defects in HBA1/HBA2 are the cause of alpha-thalassemia [MIM:141800, 604131]. The

thalassemias are the most common monogenic diseases and occur mostly in Mediterranean and

Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain

production in the adult HbA molecule. The level of alpha chain production can range from none to

very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes

alpha(0)-thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of

alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin)

that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal

tissues leading to prenatal lethality or early neonatal death. The loss of three alpha genes

results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and

life-threatening anemia known as hemoglobin H disease. Untreated, most patients die in childhood

or early adolescence. The loss of two alpha genes results in mild alpha-thalassemia, also known as

heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia

(microcytosis). If three of the four alpha-globin genes are functional, individuals are completely

asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non-deletional

alpha-thalassemia). The thalassemic phenotype is due to unstable globin alpha chains that are

rapidly catabolized prior to formation of the alpha-beta heterotetramers

Alpha(0)-thalassemia is associated with nonimmune hydrops fetalis [MIM:236750]. Hydrops

fetalis is a generalized edema of the fetus with fluid accumulation in the body cavities

10/29 Novoseek disease relationships for HBA2 gene (see all 29 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
alpha-thalassemia	94.73	28	10569721 (2), 9544971 (1), 11960579 (1), 12730694 (1) (see all 22)
beta-thalassemia	87.25	36	18768527 (2), 15931385 (2), 10872480 (1), 10975440 (1) (see all 27)
thalassemia	86.53	20	15025281 (2), 2339704 (1), 17607349 (1), 16696397 (1) (see all 15)
hemoglobinopathies	83.40	6	11042028 (2), 14757425 (1), 1586745 (1), 8811313 (1) (see all 5)
intermedia thalassemia	81.17	4	1634369 (1), 11042028 (1), 14757425 (1), 18932071 (1)
h disease	81.09	5	11551109 (1), 9372271 (1), 9255612 (1), 11122156 (1) (see all 5)
beta thalassemia heterozygous	74.79	1	15025281 (1)
erythroleukemia	65.86	4	1741249 (1), 10223722 (1), 8699328 (1)
sickle cell disease	62.15	3	12673836 (2), 11080057 (1)
hydrops fetalis	62.04	3	9544971 (1), 7550311 (1), 16787871 (1)

About this table

1 PharmGKB disease relationship for HBA2 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
alpha-Thalassemia	GN	2537793

About this table

GeneTests: HBA2

Alpha-Thalassemia

Human Gene Mutation Database: HBA2
Genetic Association Database: HBA2
Human Genome Epidemiology Navigator: HBA2 (2 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/442 PubMed articles for HBA2 gene (see all 442 ):

Cloning and complete nucleotide sequence of human 5'-alpha-globin gene. (PubMed id 6452630)^{2, 3, 4} Liebhaber S.A.... Kan Y.W. (1980)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)^{3, 4} Gevaert K.... Vandekerckhove J. (2003)
Influence of alpha-thalassemia trait on the prevalence and severity of anemia in pregnancy among women in Kuwait. (PubMed id 11154980)^{3, 6} Diejomaoh F.M....Adekile A.D. (2000)
Two new alpha chain variants: Hb Boghe [alpha58(E7)His-->Gln, alpha2], a variant on the distal histidine, and Hb CHarolles [alpha103(G10)His-Tyr, alpha1]. (PubMed id 10569723)^{3, 4} Lacan P.... Becchi M. (1999)
Crystal structure of a human embryonic haemoglobin: the carbonmonoxy form of Gower II (alpha2 epsilon2) haemoglobin at 2.9-A resolution. (PubMed id 9665850)^{3, 4} Sutherland-Smith A.J....Baker E.N. (1998)
Hb Kurdistan [alpha 47(CE5)Asp-->Tyr], a new alpha chain variant in combination with beta (0)-thalassemia. (PubMed id 8195005)^{3, 4} Giordano P.C.... Bernini L.F. (1994)
Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin variant. (PubMed id 8294199)^{3, 4} Wacjman H.... Galacteros F. (1993)
A third quaternary structure of human hemoglobin A at 1.7-A resolution. (PubMed id 1512262)^{3, 4} Silva M.M.... Arnone A. (1992)
A new alpha chain variant, Hb Hanamaki or alpha 2(139)(HC1)Lys-->Glu beta 2, found in a Japanese family. (PubMed id 1634363)^{3, 4} Orisaka M.... Imai K. (1992)
Hb Davenport or alpha 2(78)(EF7)Asn-->His beta 2. (PubMed id 2101836)^{3, 4} Wilson J.B....Huisman T.H.J. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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, and/or H-InvDB)
About This Section

Entrez Gene: 3040	HGNC: 4824	AceView: HB_	Ensembl:ENSG00000188536	euGenes: HUgn3040
ECgene: HBA2	H-InvDB: HBA2

(According to HUGE)
About This Section

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

Name	Description
HbVar	http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA1
HbVar	http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA2
GeneReviews	http://www.genetests.org/query?gene=HBA1
GeneReviews	http://www.genetests.org/query?gene=HBA2
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBA1
Wikipedia	http://en.wikipedia.org/wiki/Hemoglobin

Licensable Technologies for HBA2
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for HBA2:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

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Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
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HBA2 Gene

protein-coding GIFtS: 62

Aliases &
Descriptions
for HBA2

Summaries
for HBA2

Genomic Location
for HBA2

Proteins
for HBA2

Protein Domains/
Families
for HBA2

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for HBA2

Pathways & Interactions
for HBA2

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

HBA2 Gene

protein-coding GIFtS: 62

Aliases & Descriptionsfor HBA2

Summariesfor HBA2

Genomic Locationfor HBA2

Proteinsfor HBA2

Protein Domains/Familiesfor HBA2

Gene Functionfor HBA2

Pathways & Interactionsfor HBA2

Drugs & Compoundsfor HBA2

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Expression for HBA2

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Disorders & Mutationsfor HBA2

Medical Newsfor HBA2

Publicationsfor HBA2

Search for HBA2

Genome Databases showing HBA2

Other Databases showing HBA2

Specialized Databases showing HBA2

Licensable Technologiesfor HBA2

Servicesfor HBA2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for HBA2

Summaries
for HBA2

Genomic Location
for HBA2

Proteins
for HBA2

Protein Domains/
Families
for HBA2

Gene Function
for HBA2

Pathways & Interactions
for HBA2

Drugs & Compounds
for HBA2

Transcripts
for HBA2

Expression
for HBA2

Orthologs
for HBA2

Paralogs
for HBA2

SNPs/Variants
for HBA2

Disorders & Mutations
for HBA2

Medical News
for HBA2

Publications
for HBA2

Licensable Technologies
for HBA2

Services
for HBA2