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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HBB Gene

protein-coding GIFtS: 59
GCID: GC11M005257

hemoglobin, beta

Explore 118 diseases affiliated with
HBB via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Hemoglobin, Beta¹ ²		HBD¹
CD113t-C¹ ²		Beta Globin Chain²
Beta-Globin¹		Hemoglobin Subunit Beta²
Hemoglobin Beta Chain² ³		Beta-Globin¹

External Ids:	HGNC: 4827¹	Entrez Gene: 3043²	Ensembl: ENSG00000244734⁷	OMIM: 141900⁵	UniProtKB: P68871³

Export aliases for HBB gene to outside databases

Previous GC identifers: GC11M005995 GC11M005548 GC11M005205 GC11M005211 GC11M005203 GC11M005250 GC11M004905

(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 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, Jul 2008)

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

Gene Wiki entry for HBB

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_009237.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HBB gene promoter:
TBP USF1 C/EBPbeta FOXD1 IRF-1 FOXO3b GATA-1 USF-1 STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HBB promoter sequence

Search SABiosciences Chromatin IP Primers for HBB

Epigenetics:

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

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

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

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M005257: view genomic region (about GC identifiers)

Start:	5,246,694 bp from pter	End:	5,250,625 bp from pter
Size:	3,932 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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-bisphosphoglycerate can bind to two beta chains per hemoglobin tetramer

6/201 PDB 3D structures from and Proteopedia for HBB (see all 201):

1A00 (3D)

1A01 (3D)

1A0U (3D)

1A0Z (3D)

1A3N (3D)

1A3O (3D)

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

Q9BX96 Q9UCD6 Q9UCP8 Q9UCP9

Explore the universe of human proteins at neXtProt for HBB: NX_P68871

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 have resulted from contamination of the sample¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P68871

HBB Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000509.1

ENSEMBL proteins:

ENSP00000333994 ENSP00000369671

Reactome Protein details: P68871
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	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 3 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	TAS	1540659
GO:0031838	haptoglobin-hemoglobin complex	IDA	19740759

HBB for ontologies About GeneDecksing

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

HBB for domains About GeneDecksing

4 InterPro domains/families:

IPR012292 Globin_dom

IPR009050 Globin-like

IPR000971 Globin

IPR002337 Haemoglobin_b

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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBB

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004601	contributes to peroxidase activity	IDA	19740759
GO:0005344	oxygen transporter activity	NAS	11747442
GO:0005506	iron ion binding	IEA	--
GO:0005515	protein binding	IPI	16169070
GO:0019825	oxygen binding	IDA	11747442

HBB for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for HBB: Hbb^tm1Unc Hbb^tm1Tow
     14 MGI mutant phenotypes (inferred from 16 alleles) (MGI details for Hbb):

cardiovascular system	growth/size	hematopoietic system	homeostasis/metabolism	immune system
integument	liver/biliary system	mortality/aging	nervous system	normal
renal/urinary system	reproductive system	respiratory system	skeleton

HBB for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

O2/CO2 exchange in erythrocytes

	O2/CO2 exchange in erythrocytes	1.00			Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes	1.00
	Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes	1.00			Endocytosis of Hemoglobin:Haptoglobin:CD163	0.20

Cleavage of Alpha-1-Microglobulin

Binding and Uptake of Ligands by Scavenger Receptors

0.79

Scavenging of Heme from Plasma

0.79

Expression of globin genes under control of the beta globin control region

Expression of globin genes under control of the beta globin control region

1.00

Factors involved in megakaryocyte development and platelet production

Factors involved in megakaryocyte development and platelet production

1.00

Metabolism

Metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for HBB

	Selenium Pathway
	Folate Metabolism

5/10 Reactome Pathways for HBB (see all 10)

	Hemostasis
	Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes
	Metabolism
	Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes
	Scavenging of Heme from Plasma

2 Kegg Pathways (Kegg details for HBB):

	African trypanosomiasis
	Malaria

HBB for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HBB

STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

5/31 Interacting proteins for HBB (P68871^{1, 2, 3} ENSP00000333994⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 31)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HBA1	P69905¹^,²^,³, ENSP00000322421⁴	EBI-715554,EBI-714680 MINT-24813 I2D: score=10 STRING: ENSP00000322421
HBA2	P69905¹^,²^,³, ENSP00000251595⁴	EBI-715554,EBI-714680 MINT-24813 I2D: score=10 STRING: ENSP00000251595
DMWD	Q09019³, ENSP00000270223⁴	I2D: score=2 STRING: ENSP00000270223
HBZ	P02008³, ENSP00000252951⁴	I2D: score=2 STRING: ENSP00000252951
UPF3B	Q9BZI7³, ENSP00000276201⁴	I2D: score=1 STRING: ENSP00000276201

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007596	blood coagulation	TAS	--
GO:0008217	regulation of blood pressure	IEA	--
GO:0010942	positive regulation of cell death	IDA	19740759
GO:0015671	oxygen transport	TAS	1540659
GO:0015701	bicarbonate transport	TAS	--

HBB for ontologies About GeneDecksing

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

HBB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HBB

3 HMDB Compounds for HBB About this table

Compound	Synonyms	CAS #	PubMed Ids
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Nitric oxide	Mononitrogen monoxide (see all 9)	10102-43-9	--
Oxygen	Oxygen (see all 5)	7782-44-7	--

10 DrugBank Compounds for HBB About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Iron Dextran	Dexferrum (see all 2)	9004-66-4	target	activator	9629498 11752352
1,3,5-BENZENETRICARBOXYLIC ACID	--	--	target	--	10592235
2,6-DICARBOXYNAPHTHALENE	--	--	target	--	10592235
2-[(2-methoxy-5-methylphenoxy)methyl]pyridine	--	--	target	--	10592235
2-[4-({[(3,5-DICHLOROPHENYL)AMINO]CARBONYL}AMINO)PHENOXY]-2-METHYLPROPANOIC ACID	--	--	target	--	10592235
2-{4-[(3,5-DIMETHYLANILINO)-CARBONYL-METHYL]-PHENOXY}-2-METHYLPROPIONIC ACID	--	--	target	--	10592235
4-Carboxycinnamic Acid	--	--	target	--	10592235
4-[(5-methoxy-2-methylphenoxy)methyl]pyridine	--	--	target	--	10592235
SEBACIC ACID	--	--	target	--	10592235
Heme	--	--	target	--	--

10/61 Novoseek chemical compound relationships for HBB gene (see all 61) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hydroxyurea	56.2	7	7646994 (2), 7865126 (1), 18275000 (1), 18181203 (1) (see all 5)
porphobilinogen	54.4	6	14715640 (1), 8932385 (1), 8599974 (1), 2052563 (1) (see all 6)
hmba	45.3	4	12894881 (1), 1557419 (1), 8699328 (1)
de-oxy	44.9	2	12956772 (1), 1390648 (1)
23-diphosphoglycerate	43.2	3
butyrate	40.8	8	7677966 (2), 9763579 (1), 11231050 (1), 7529533 (1) (see all 7)
valine	40	9	8340379 (1), 16295755 (1), 1985702 (1), 8580853 (1) (see all 9)
oligonucleotide	38.5	11	20353358 (1), 11233988 (1), 10036232 (1), 17394396 (1) (see all 11)
oxygen	26.8	14	1427042 (2), 1288540 (1), 11035948 (1), 12621249 (1) (see all 10)
iron	24.2	10	17135308 (3), 8342561 (1), 8643666 (1), 7493680 (1) (see all 6)

Search CenterWatch for drugs/clinical trials and news about HBB

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HBB gene:

NM_000518.4

Unigene Cluster for HBB:

Hemoglobin, beta

Hs.523443 [show with all ESTs]

Unigene Representative Sequence: BM811415

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

ENST00000335295(uc001mae.1) ENST00000475226 ENST00000485743 ENST00000380315

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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 DQ655983.2 DQ655984.2 DQ655985.2 EU694432.1 M11428.1

M14574.1 V00497.1 V00500.1

22 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.100889006 DT.121080183

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

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

CR609101 CR594264 CR603426 CR621681 NM_000518 CR590940 AF181832 AY136510

AF117710 AF181989 V00500 CR536530 V00497 AY509193 M11428 AF349114

CR541913 BC007075 M25113 M14574 BG940488 BG941099 BG940364 BG940380

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

HBB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAAGAAAGT

About this image

HBB expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Cardiac Crescent

Cardiac Crescent Cells

Myocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Matured erythrocyte-like cells (Generation and expan...)

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

SOURCE GeneReport for Unigene cluster: Hs.523443

UniProtKB/Swiss-Prot: HBB_HUMAN, P68871

Tissue specificity: Red blood cells

SABiosciences Expression via Pathway-Focused PCR Array including HBB:

Embryonic Stem Cells in human mouse rat

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In Situ
Assay Products:

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(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 HBB gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	HBRH_CHICK⁶ F1N9X2_CHICK⁶ (see all 3)	Uncharacterized protein (see all 3)	68(a) 67(a) (see all 3)	many ↔ many many ↔ many (see all 3)	1(199433573-199442026) 1(199436878-199438103)
lizard (Anolis carolinensis)	Reptilia	--	--	62(a)	1 → many	GL344018.1(38428-41710)
African clawed frog (Xenopus laevis)	Amphibia	LOC397871²	Xenopus laevis mRNA for larval beta II globin	72.37(n)		X03142.1
zebrafish (Danio rerio)	Actinopterygii	ba1⁶ hbbe3⁶ (see all 7)	hemoglobin beta embryonic-3 (see all 7)	51(a) 50(a) (see all 7)	possible ortholog possible ortholog (see all 7)	3(55950130-55955982) 12(21691906-21693036)

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

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

Paralogs for HBB gene

HBG2² HBE1² CYGB² HBZ² HBD² HBG1² HBA2² HBQ1²

HBA1² HBM²

13 SIMAP similar genes for HBB using alignment to 46 protein entries: HBB_HUMAN (see all proteins):

beta-globin HBD/HBB HBD HBE1 HBG2 HBG1

G-gamma HBA1 HBA2 HBZ HBM HBQ1

CYGB

HBB for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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
				--	--	--		--	--
rs35020585^1,2	C	non-pathogenic	4906010(-)	`CACAAA/C/G/T TATCA`	4	K N	syn¹ mis¹		1		NA	4552
rs1609812^1,2	C,F,O,A,H,	non-pathogenic	4906314(-)	`AATATT/CTCTGC`	1	--	int¹		25		MN NS EA NA WA CSA	2885
rs33985472^1,2	C	pathogenic	4905888(-)	`AATAAA/GAAACA`	1	--	ut3¹		0	--	--	--	--
rs35949130^1,2	C	pathogenic	4905889(-)	`TGCCT-/AATAA AAAAC`	1	--	ut3¹		0	--	--	--	--
rs34502690^1,2	C	pathogenic	4906060(-)	`AGTGC-/AGGCTGCC`	1	P	cds¹		0	--	--	--	--
rs36015961^1,2	C	pathogenic	4906101(-)	`TGTGCT/CGGCCC`	2	/P /L	mis¹		1		NA	2
rs41443947^1,2	C	pathogenic	4906101(-)	`GTGTGCT/GGGCCC`	2	L G	fra¹		0	--	--	--	--
rs35849199^1,2	C	pathogenic	4906108(-)	`TGGTCC/TGTGTG`	2	R C	mis¹		0	--	--	--	--
rs35256489^1,2	C	pathogenic	4906113(-)	`CGTGCT/CGGTCT`	2	/P /L	mis¹		2		NA	4
rs35225141^1,2	C	pathogenic	4906123(-)	`TCCTG-/GGGCAA`	2	LG LGQ	fra¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for HBB (5246694 - 5250625 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HBB: --
Human Gene Mutation Database (HGMD): HBB

Locus Specific Mutation Databases (LSDB): HBB

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HBB

DNA2.0 Custom Variant and Variant Library Synthesis for HBB

(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.)
About This Section

HBB for disorders           About GeneDecksing

OMIM gene information: 141900
OMIM disorders: 603903  604131  140700  603902
UniProtKB/Swiss-Prot: HBB_HUMAN, P68871

Defects in HBB may be a cause of Heinz body anemias (HEIBAN) [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 (B-THAL) [MIM:613985]. A form of thalassemia. Thalassemias

are common monogenic diseases occurring 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 which is

transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic

Defects in HBB are the cause of sickle cell anemia (SKCA) [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 beta-thalassemia dominant inclusion body type (B-THALIB) [MIM:603902]. An

autosomal dominant form of beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and

splenomegaly, marked morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased

numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in

the marrow and in the peripheral blood after splenectomy

20/118 diseases for HBB (see all 118): About MalaCards

thalassemia-beta, dominant inclusion-body thalassemia sickle cell anemia heinz body anemias, beta-

heinz body anemia hemoglobin constant spring anemia erythremias, beta-

beta thalassemia hereditary persistence of fetal hemoglobin hydrops fetalis methemoglobinemias, beta-

congenital dyserythropoietic anemia type i hemoglobin s beta-thalassemia erythremia congenital dyserythropoietic anemia

dyserythropoietic anemia iron overload lymphomatoid papulosis hemoglobinemia

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

Thalassemia Anemia Sickle cell anemia

10/62 Novoseek disease relationships for HBB gene (see all 62) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
beta-thalassemia	92.2	113	18413893 (3), 19205976 (2), 20098328 (2), 19608680 (2) (see all 85)
thalassemia	87.6	53	15946310 (3), 11012251 (2), 10022837 (1), 11559936 (1) (see all 43)
hemoglobinopathies	85.6	14	8443396 (1), 11475037 (1), 20113284 (1), 1366418 (1) (see all 14)
intermedia thalassemia	85.1	6	18932071 (2), 20181291 (1), 16304358 (1), 2001456 (1) (see all 5)
erythroleukemia	83.5	41	8248229 (2), 1993224 (2), 1709381 (2), 9106619 (2) (see all 35)
sickle cell disease	82	41	7531513 (2), 10721715 (1), 10973828 (1), 11080057 (1) (see all 38)
alpha-thalassemia	78.6	10	20181291 (2), 9668554 (1), 15946310 (1), 18181203 (1) (see all 9)
thalassemia major	71.6	6	16304358 (2), 15292064 (1), 16339671 (1), 9668531 (1) (see all 5)
anemia, hypochromic microcytic	68.1	1	8431522 (1)
anemia	60.7	16	18410569 (2), 9074425 (1), 16728274 (1), 8980265 (1) (see all 15)

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

Sickle Cell Disease

Genetic Association Database (GAD): HBB
Human Genome Epidemiology (HuGE) Navigator: HBB (148 documents)

Export disorders for HBB 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 HBB gene, integrated from 9 sources (see all 1163):
(articles sorted by number of sources associating them with HBB)

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

Beta-globin cluster haplotypes in normal individuals and beta(0)39-thalassemia carriers from Sardinia, Italy. (PubMed id 16254903)^{1, 4, 9} 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, 2, 9} 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, 4, 9} 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, 2, 9} Deutsch S.... Beris P. (1999)
[Rapid detection of three common deletional alpha thalassemias in Chinese by single-tube multiplex PCR] (PubMed id 15793780)^{1, 4} Zhou Y....Xu X. (2005)
beta-globin gene cluster haplotypes associated with beta-thalassemia on Corsica island. (PubMed id 15609277)^{1, 4} Falchi A....Varesi L. (2005)
3' haplotypes of the beta-globin gene in beta(S)-chromosomes of Mexican individuals. (PubMed id 15607699)^{1, 4} 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)^{1, 2} Flatz G.... Horst J. (2004)
C677T polymorphism of the MTHFR gene and variant hemoglobins: a study in newborns from Salvador, Bahia, Brazil. (PubMed id 15073633)^{1, 4} Couto F.D....Goncalves M.S. (2004)
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: 3043	HGNC: 4827	AceView: HBB	Ensembl:ENSG00000244734	euGenes: HUgn3043
ECgene: HBB	Kegg: 3043	H-InvDB: HBB

(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)
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Name	Description
PharmGKB entry for HBB	Pharmacogenomics, SNPs, Pathways
HbVar	http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBB
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBB
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBB
Wikipedia	http://en.wikipedia.org/wiki/Hemoglobin

Intellectual Property for HBB gene
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Patent Information for HBB gene:
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GeneCards and IP:
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HERPES
Polycythemia
Down Syndrome
Hemolytic disease
SC Disease
Phenylketonurias
Herpes Simplex
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Erythroleukemia
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Thalassemia
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ANEMIA, HYPOCHROMIC MICROCYTIC
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HBB Gene

hemoglobin, beta

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