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HBB Gene

protein-coding GIFtS: 63

GC11M005203

hemoglobin, beta
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
Beta-globin ^³
CD113t-C ^¹, ²
HBD ^¹
beta-globin ^¹, ²

Descriptions
Hemoglobin beta chain ^², ³
beta globin ^²
beta globin chain ^²
hemoglobin, beta ^²

External Ids
HGNC: 4827¹
Entrez Gene: 3043²
UniProtKB: P68871³
Ensembl: ENSG00000221842⁷

Search outside databases for aliases for HBB gene

Previous GC identifers: GC11M005995 GC11M005548 GC11M005205 GC11M005211

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

EntrezGene summary for HBB:

The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in

adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two

beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes

beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The

order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta --

beta--3'. [provided by RefSeq]

UniProtKB/Swiss-Prot: HBB_HUMAN, P68871

Function: LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood

pressure

Gene Wiki entry for HBB

(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 HBB gene

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

HBB 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 11 GeneLoc Exon Structure

GeneLoc location for GC11M005203: (about GC identifiers)

Start:	5,203,272 bp from pter
End:	5,207,201 bp from pter
Size:	3,930 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000011.8 NT_009237.17

(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: HBB_HUMAN, P68871 (See protein sequence)

Recommended Name: Hemoglobin subunit beta

Size: 147 amino acids; 15998 Da

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

Mass spectrometry: Mass=1310; Method=FAB; Range=33-42; Source=PubMed:1575724;

Miscellaneous: One molecule of 2,3-bisphospoglycerate can bind to two beta chains per hemoglobin

tetramer

PDB structures from and Proteopedia :

1A00 (3D)

1A01 (3D)

1A0U (3D)

1A0Z (3D)

1A3N (3D)

1A3O (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)

1CBL (3D)

1CBM (3D)

1CH4 (3D)

1CLS (3D)

1CMY (3D)

1COH (3D)

1DKE (3D)

1DXT (3D)

1DXU (3D)

1DXV (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)

1THB (3D)

1UIW (3D)

1VWT (3D)

1XXT (3D)

1XY0 (3D)

1XYE (3D)

1XZ2 (3D)

1XZ4 (3D)

1XZ5 (3D)

1XZ7 (3D)

1XZU (3D)

1XZV (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)

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: A4GX73 B2ZUE0 P02023 Q13852 Q14481 Q14510 Q45KT0 Q549N7 Q6FI08 Q6R7N2 Q8IZI1

Q9BX96 Q9UCD6 Q9UCP8 Q9UCP9

Post-translational modifications:

Glucose reacts non-enzymatically with the N-terminus of the beta chain to form a stable ketoamine

linkage. This takes place slowly and continuously throughout the 120-day life span of the red

blood cell. The rate of glycation is increased in patients with diabetes mellitus¹

S-nitrosylated; a nitric oxide group is first bound to Fe(2+) and then transferred to Cys-94 to

allow capture of O(2)¹

Acetylated on Lys-60, Lys-83 and Lys-145 upon aspirin exposure. PubMed:16916647 reports the

identification of HBB acetylated on Lys-145 in the cytosolic fraction of HeLa cells. This may

results from a contamination of the sample¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000509.1

ENSEMBL proteins:

ENSP00000369671 ENSP00000333994

Human Recombinant Proteins

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

OriGene Purified Recombinant Human Protein: HBB

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005833	hemoglobin complex	TAS	1540659

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Antibodies for HBB:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for HBB
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Hemoglobin), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (HBB)
	Novus Biologicals Antibodies for HBB

Assays for HBB:

	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 P68871

ProtoNet protein and cluster: P68871

UniProtKB/Swiss-Prot: HBB_HUMAN, P68871

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 (HBB)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HBB)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000518

Applied Biosystems Silencer® siRNAs for HBB

Sigma-Aldrich siRNA for HBB

Sigma-Aldrich shRNA for HBB

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_000518
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000518
untagged cDNA clone in CMV expression vector: NM_000518

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_000518

UniProtKB/Swiss-Prot: HBB_HUMAN, P68871

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

Function: LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood

pressure

Genatlas biochemistry entry for HBB:

hemoglobin,beta,adult

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005344	oxygen transporter activity	NAS	11747442
GO:0019825	oxygen binding	IDA	11747442
GO:0020037	heme binding	IEA	--
GO:0030492	hemoglobin binding	IDA	1512262
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 HBB

3 Interacting proteins for HBB (P68871^{1, 2}) via UniProtKB, MINT, and/or STRING
Interactant Interaction Details
GeneCard External ID(s)
HBA2 P69905¹^,² EBI-715554, EBI-714680 MINT-24813
HBA1 P69905¹^,² EBI-715554, EBI-714680 MINT-24813 EBI-715554, EBI-714680 MINT-24813
HBA1 P69905¹^,² EBI-715554, EBI-714680 MINT-24813 EBI-715554, EBI-714680 MINT-24813
-- Q1HVH9² MINT-6769736
About this table
5 Gene Ontology (GO) biological process terms (links to tree view):
GO ID Qualified GO term Evidence PubMed IDs
GO:0008217 regulation of blood pressure IEA --
GO:0015671 oxygen transport TAS 1540659
GO:0030185 nitric oxide transport NAS 8292032
GO:0045429 positive regulation of nitric oxide biosynthetic process NAS 7965120
GO:0050880 regulation of blood vessel size IEA --
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 HBB:

Antagonist

Browse Tocris compounds for HBB
10/34 Novoseek chemical compound relationships for HBB gene (see all 34 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
porphobilinogen	55.31	6	14715640 (1), 8932385 (1), 8599974 (1), 2052563 (1) (see all 6)
de-oxy	46.03	2	12956772 (1), 1390648 (1)
23-diphosphoglycerate	44.02	3
oligonucleotide	38.26	10	11233988 (1), 10036232 (1), 17394396 (1), 12012783 (1) (see all 10)
oxygen	24.18	14	1427042 (2), 1288540 (1), 11035948 (1), 12621249 (1) (see all 10)
hind iii	23.55	3	9987927 (1), 19002816 (1), 15018035 (1)
benzidine	23.27	2	10914555 (1), 9406997 (1)
iron	20.31	10	17135308 (3), 8342561 (1), 8643666 (1), 7493680 (1) (see all 6)
leucine	13.03	2	2005117 (1), 7937919 (1)
bgl ii	11.80	1	9987927 (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 (HBB)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HBB)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000518

Sigma-Aldrich siRNA for HBB

Sigma-Aldrich shRNA for HBB

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000518

REFSEQ mRNAs for HBB gene:

NM_000518.4

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000518

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000518
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000518
                                 untagged cDNA clone in CMV expression vector: NM_000518

Additional cDNA sequence:

AF117710.1 AF181832.1 AF181989.1 AF349114.1 AK311825.1 AY034472.1 AY136510.1 AY509193.1

BC007075.1 CR536530.1 CR541913.1 CR590940.1 CR594264.1 CR603426.1 CR609101.1 CR621681.1

DQ655983.2 DQ655984.2 DQ655985.2 EU694432.1 M11428.1 M14574.1 V00497.1 V00500.1

23 DOTS entries:

DT.92476019 DT.92475803 DT.92001318 DT.95088570 DT.100019029 DT.121643030 DT.95259027 DT.95088550

DT.100783565 DT.100828006 DT.91767822 DT.92475944 DT.95088583 DT.100749347 DT.100888996 DT.100889006

DT.121080183 DT.121431039 DT.444756 DT.70104049 DT.95184593 DT.95354546 DT.97855335

24/28 AceView cDNA sequences (see all 28 ):

NM_000518 CR594264 CR603426 CR621681 CR590940 CR609101 AF181989 AY136510

V00500 CR536530 V00497 M11428 CR541913 AY509193 AF181832 AF117710

AF349114 BC007075 M25113 M14574 BG941099 BG940488 BG940364 BG940545

3 RNAdb entries of non coding RNAs:

LIT2037 LIT2038 LIT2039

highest scoring ESTs for HBB:

AF117710 AF181989 AF349114 AU139015 AV708752 AV710000 AV722370 AV734706 AW950603 AY509193

Unigene Cluster for HBB:

Hemoglobin, beta

Hs.523443 [show with all ESTs]

Unigene Representative Sequence: BM811415

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000380315 ENST00000335295

(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

HBB expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for HBB

¹ / ² / ³

9 probe-sets matching HBB 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
32052_at²^{, 3}	U95-A	1	1.00	1.00	0.99	1.02	L48215	0.20	1.00	0.72	1
31687_f_at²^{, 3}	U95-A	5	1.00	0.56	0.98	0.98	M25079	0.40	0.50	0.45	1
211696_x_at²^{, 3}	U133-A	6	1.00	0.79	--	--	AF349114	0.80	0.88	0.84	1
209116_x_at²^{, 3}	U133-A	5	1.00	0.74	--	--	M25079	0.40	0.50	0.45	1
217232_x_at²	U133-A	6	0.91	0.64	--	--	--	--	--	--	--
211696_x_at²	U133Plus2	6	1.00	0.79	--	--	--	--	--	--	--
209116_x_at²	U133Plus2	5	1.00	0.74	--	--	--	--	--	--	--
217232_x_at²	U133Plus2	6	0.91	0.64	--	--	--	--	--	--	--
1562981_at*²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks HBB for binary patterns associated with the probe-sets selected above

About GeneDecksing

About this table

Data from

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

CGAP SAGE TAG: GCAAGAAAGT

SOURCE GeneReport for Unigene cluster: Hs.523443
Expression variation in blood from EXPOLDB for HBB
UniProtKB/Swiss-Prot: HBB_HUMAN, P68871
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 HBB gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	LOC480784¹	--	similar to beta globin	87.76(n) 89.8(a)	480784 XM_537902.2 XP_537902.1
chimpanzee (Pan troglodytes)	HBB¹	--	hemoglobin, beta	99.77(n) 100(a)	450978 XM_508242.2 XP_508242.1
cow (Bos taurus)	HBB¹	--	hemoglobin, beta	86.81(n) 84.72(a)	280813 NM_173917.1 NP_776342.1
rat (Rattus norvegicus)	Hbb¹	--	hemoglobin, beta	82.77(n) 81.63(a)	24440 NM_033234.1 NP_150237.1
mouse (Mus musculus)	Hbb-b1¹	--	hemoglobin, beta adult major chain	82.77(n) 80.27(a)	15129 NM_008220.2 NP_032246.2

About this table Species with no ortholog for HBB

ENSEMBL Gene Tree for HBB

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

Paralogs for HBB gene

HBE1² HBG2² CYGB² HBG1² HBD²

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

10/473 NCBI SNPs in HBB are shown (see all 473 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 73)

AB	SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs12788013^1,2	A,C,F,H	5203171(+)	`TTTCCC/GAAGGT`	1	--	ng5¹		11	NA EU EA WA	982
--	rs7110263^1,2	A,C,F,H	5203088(+)	`GCATAG/TGCATC`	1	--	ng5¹		4	EU EA WA	384
	rs10742583^1,2	A,C,F,H	5205217(+)	`AAGAAA/GTTGAT`	1	--	ng3¹		7	NA EU EA WA	536
	rs10742584^1,2	A,C,F,H	5205346(+)	`ACCTCA/GGTTCT`	1	--	ng3¹		11	EU EA WA NA	974
	rs1003586^1,2	A,C,F,H	5205946(-)	`GTTGGG/AAAGCT`	1	--	ng3¹		12	EU EA WA NA	1200
	rs10837631^1,2	A,C,F,H	5202932(+)	`TGGAGT/ACAAGG`	1	--	ng5¹		5	EA NA WA	318
	rs11036364^1,2	A,C,F,H	5205580(+)	`AAGAGA/GTAAAA`	1	--	ng3¹		14	EA NA MN EU WA	1408
	rs7936823^1,2	A,C,F,H	5206744(+)	`AACATA/GCAGAT`	1	--	ng3¹		4	EU EA WA	418
--	rs713040^1,2	A,C,F	5204819(+)	`GTCAGA/C/G/T TGCAC`	3	H/Q H/H	mis¹ syn¹		4	MN EA NA	614
	rs16911905^1,2	C,F,H	5205866(+)	`TCCTTG/CATTCA`	1	--	ng3¹		11	NA EU EA WA	980

About this table

HapMap Linkage Disequilibrium images for HBB (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: 141900

UniProtKB/Swiss-Prot: HBB_HUMAN, P68871

Defects in HBB 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 HBB are the cause of beta-thalassemia [MIM:141900, 604131]. The thalassemias

are the most common monogenic diseases and occur mostly in Mediterranean and Southeast Asian

populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the

adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of

detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta-thalassemia, the

excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their

deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective

erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided

into thalassemia major (transfusion dependent), thalassemia intermedia (of intermediate severity),

and thalassemia minor (asymptomatic)

Defects in HBB are the cause of sickle cell anemia [MIM:603903]; also known as sickle cell

disease. Sickle cell anemia is characterized by abnormally shaped red cells resulting in chronic

anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red

blood cells are round and flexible and flow easily through blood vessels, but in sickle cell

anemia, the abnormal hemoglobin (called Hb S) causes red blood cells to become stiff. They are

C-shaped and resembles a sickle. These stiffer red blood cells can led to microvascular occlusion

thus cutting off the blood supply to nearby tissues

Defects in HBB are the cause of dominant beta-thalassemia inclusion body type

[MIM:603902]. This form of beta-thalassemia is transmitted in an autosomal dominant fashion and is

characterized by anemia, enlargement of the spleen, and gross abnormalities of the erythrocytes

and their precursors

10/60 Novoseek disease relationships for HBB gene (see all 60 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
beta-thalassemia	92.09	96	18413893 (3), 19205976 (2), 10645766 (2), 17041717 (2) (see all 76)
thalassemia	87.30	50	15946310 (3), 11012251 (2), 10022837 (1), 11559936 (1) (see all 41)
hemoglobinopathies	85.14	13	8443396 (1), 11475037 (1), 1366418 (1), 2276738 (1) (see all 13)
intermedia thalassemia	84.41	5	18932071 (2), 16304358 (1), 2001456 (1), 8952151 (1)
erythroleukemia	83.80	41	8248229 (2), 1993224 (2), 1709381 (2), 9106619 (2) (see all 35)
sickle cell disease	81.38	36	7531513 (2), 10721715 (1), 10973828 (1), 11080057 (1) (see all 33)
alpha-thalassemia	77.38	8	9668554 (1), 15946310 (1), 18181203 (1), 9640605 (1) (see all 8)
thalassemia major	68.10	6	16304358 (2), 15292064 (1), 16339671 (1), 9668531 (1) (see all 5)
anemia, hypochromic microcytic	67.34	1	8431522 (1)
anemia	60.11	14	18410569 (2), 9074425 (1), 16728274 (1), 8980265 (1) (see all 13)

About this table

1 PharmGKB disease relationship for HBB gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Thalassemia	GN	14628290

About this table

Genatlas disease: HBB

methemoglobinemia,hemoglobinopathic type of Hbm (beta) type,erythremia beta,sickle cell

disease,drepanocytosis,Heinz body anemia,beta,thalassemia,beta

GeneTests: HBB

Beta-Thalassemia

Human Gene Mutation Database: HBB
Genetic Association Database: HBB
Human Genome Epidemiology Navigator: HBB (117 documents)

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

Network Model Predicts Risk of Death in Sickle Cell Disease

(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

10/972 PubMed articles for HBB gene (see all 972 ):

Beta-globin cluster haplotypes in normal individuals and beta(0)39-thalassemia carriers from Sardinia, Italy. (PubMed id 16254903)^{1, 3, 6} Piras I....Calo C.M. (2005)
The beta-globin recombinational hotspot reduces the effects of strong selection around HbC, a recently arisen mutation providing resistance to malaria. (PubMed id 16175509)^{1, 3, 4} Wood E.T.... Hammer M.F. (2005)
Beta-globin gene cluster haplotypes and HbF levels are not the only modulators of sickle cell disease in Lebanon. (PubMed id 12581188)^{1, 3, 6} Inati A....Zalloua P.A. (2003)
Hb Iraq-Halabja beta10 (A7) Ala-->Val (GCC-->GTC): a new beta-chain silent variant in a family with multiple Hb disorders. (PubMed id 10398311)^{1, 3, 4} Deutsch S.... Beris P. (1999)
Substrate and functional diversity of lysine acetylation revealed by a proteomics survey. (PubMed id 16916647)^{3, 4} Kim S.C.... Zhao Y. (2006)
[Rapid detection of three common deletional alpha thalassemias in Chinese by single-tube multiplex PCR] (PubMed id 15793780)^{3, 6} Zhou Y....Xu X. (2005)
beta-globin gene cluster haplotypes associated with beta-thalassemia on Corsica island. (PubMed id 15609277)^{3, 6} Falchi A....Varesi L. (2005)
3' haplotypes of the beta-globin gene in beta(S)-chromosomes of Mexican individuals. (PubMed id 15607699)^{3, 6} Magana M.T....Ibarra B. (2005)
The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta- globin anomalies in the Lao Theung population of southern Laos. (PubMed id 15481886)^{3, 4} Flatz G.... Horst J. (2004)
[Clinical phenotype genotype correlation in children with hemoglobin H disease in Zhuhai area of China] (PubMed id 15482674)^{3, 6} Zhou Y.Q....Zhang Y.M. (2004)

(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: 3043	HGNC: 4827	AceView: HBB	Ensembl:ENSG00000221842	euGenes: HUgn3043
ECgene: HBB	H-InvDB: HBB

(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=HBB
GeneReviews	http://www.genetests.org/query?gene=HBB
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBB
Wikipedia	http://en.wikipedia.org/wiki/Hemoglobin

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

About This Section

(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 HBB:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for HBB-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for HBB		Antibodies for HBB
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	"Your Favorite Gene" Pathways		feedback

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HBB Gene

protein-coding GIFtS: 63

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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

HBB Gene

protein-coding GIFtS: 63

Aliases & Descriptionsfor HBB

Summariesfor HBB

Genomic Locationfor HBB

Proteinsfor HBB

Protein Domains/Familiesfor HBB

Gene Functionfor HBB

Pathways & Interactionsfor HBB

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Medical Newsfor HBB

Publicationsfor HBB

Search for HBB

Genome Databases showing HBB

Other Databases showing HBB

Specialized Databases showing HBB

Licensable Technologiesfor HBB

Servicesfor HBB

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 HBB

Summaries
for HBB

Genomic Location
for HBB

Proteins
for HBB

Protein Domains/
Families
for HBB

Gene Function
for HBB

Pathways & Interactions
for HBB

Drugs & Compounds
for HBB

Transcripts
for HBB

Expression
for HBB

Orthologs
for HBB

Paralogs
for HBB

SNPs/Variants
for HBB

Disorders & Mutations
for HBB

Medical News
for HBB

Publications
for HBB

Licensable Technologies
for HBB

Services
for HBB