HBB Gene (Protein Coding)

Hemoglobin Subunit Beta

GC11M005352
GIFtS:
45
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.... See more...

Aliases for HBB Gene

Aliases for HBB Gene

  • Hemoglobin Subunit Beta 2 3 4 5
  • Beta-Globin 2 3 4
  • Hemoglobin, Beta 2 3
  • CD113t-C 2 3
  • Hemoglobin Beta Subunit 3
  • Hemoglobin Beta Chain 4
  • Beta Globin Chain 3
  • ECYT6 3
  • HBB 5

External Ids for HBB Gene

Previous GeneCards Identifiers for HBB Gene

  • GC11M005995
  • GC11M005548
  • GC11M005205
  • GC11M005211
  • GC11M005203
  • GC11M005250
  • GC11M004905
  • GC11M005257
  • GC11M005264
  • GC11M005231
  • GC11M005238
  • GC11M005240
  • GC11M005334

Summaries for HBB Gene

Entrez Gene Summary for HBB Gene

  • 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]

GeneCards Summary for HBB Gene

HBB (Hemoglobin Subunit Beta) is a Protein Coding gene. Diseases associated with HBB include Beta-Thalassemia and Sickle Cell Anemia. Among its related pathways are Folate Metabolism and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBD.

UniProtKB/Swiss-Prot Summary for HBB Gene

  • Involved in oxygen transport from the lung to the various peripheral tissues.
  • LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.
  • [Spinorphin]: functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation.

Gene Wiki entry for HBB Gene

Additional gene information for HBB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HBB Gene

Genomics for HBB Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for HBB Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J005234 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 600.7 -3.7 -3689 4.2 ZNF512 RFX1 LEF1 IKZF1 JUND PKNOX1 ZNF24 DPF2 HDAC1 SOX6 6FEC_F HBB HBG2 HBD
GH11J005226 Promoter/Enhancer 1 EPDnew Ensembl dbSUPER 600.7 +1.9 1894 3 LEF1 PKNOX1 ZNF24 THRA HMBOX1 ATF4 PRDM10 HBB lnc-HBD-1 HBBP1 HBG2 OR51V1
GH11J005272 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.8 -53.2 -53206 21.6 CTCF ATF7 RFX1 LEF1 IKZF1 BACH1 JUND ETV6 DDX20 MTA2 lnc-OR51B4-3 HBD HBG2 HBG1 HBB HBBP1 ENSG00000224091 ENSG00000221031 OR51V1 OR52A4P
GH11J005249 Promoter/Enhancer 1.2 EPDnew Ensembl dbSUPER 11.5 -21.8 -21805 2.8 IKZF1 MTA2 ZNF24 NKRF POLR2A TAF9B ZSCAN29 TBL1XR1 MYC MBD2 HBG1 HBG2 HBB ENSG00000221031 ENSG00000284931
GH11J005254 Promoter/Enhancer 1.2 EPDnew Ensembl dbSUPER 11.2 -26.4 -26391 2 CREB1 IKZF1 PKNOX1 ZNF24 ATF7 POLR2A TAF9B EHMT2 NFIC ARNT HBG2 ENSG00000284931 HBB ENSG00000221031 HBG1 lnc-OR51B4-3 OR51B4 ENSG00000239920
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HBB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HBB

Top Transcription factor binding sites by QIAGEN in the HBB gene promoter:
  • C/EBPbeta
  • FOXD1
  • FOXO3b
  • GATA-1
  • IRF-1
  • STAT3
  • TBP
  • USF-1
  • USF1

Genomic Locations for HBB Gene

Genomic Locations for HBB Gene
chr11:5,225,464-5,229,395
(GRCh38/hg38)
Size:
3,932 bases
Orientation:
Minus strand
chr11:5,246,694-5,250,625
(GRCh37/hg19)
Size:
3,932 bases
Orientation:
Minus strand

Genomic View for HBB Gene

Genes around HBB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HBB Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HBB Gene

Proteins for HBB Gene

Products:

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  • Protein details for HBB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P68871-HBB_HUMAN
    Recommended name:
    Hemoglobin subunit beta
    Protein Accession:
    P68871
    Secondary Accessions:
    • A4GX73
    • B2ZUE0
    • P02023
    • Q13852
    • Q14481
    • Q14510
    • Q45KT0
    • Q549N7
    • Q6FI08
    • Q6R7N2
    • Q8IZI1
    • Q9BX96
    • Q9UCD6
    • Q9UCP8
    • Q9UCP9

    Protein attributes for HBB Gene

    Size:
    147 amino acids
    Molecular mass:
    15998 Da
    Quaternary structure:
    • Heterotetramer of two alpha chains and two beta chains in adult hemoglobin A (HbA). Heterotetramer of two zeta chains and two beta chains in hemoglobin Portland-2, detected in fetuses and neonates with homozygous alpha-thalassemia.
    Miscellaneous:
    • One molecule of 2,3-bisphosphoglycerate can bind to two beta chains per hemoglobin tetramer.

    Three dimensional structures from OCA and Proteopedia for HBB Gene

neXtProt entry for HBB Gene

Protein Expression for HBB Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HBB Gene

  • 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 mellitus.
  • S-nitrosylated; a nitric oxide group is first bound to Fe(2+) and then transferred to Cys-94 to allow capture of O(2).
  • Acetylated on Lys-60, Lys-83 and Lys-145 upon aspirin exposure.
  • Glycosylation at Val2, Lys9, Lys18, Lys67, Lys121, and Lys145
  • Modification sites at PhosphoSitePlus

Other Protein References for HBB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HBB Gene

Domains & Families for HBB Gene

Gene Families for HBB Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for HBB Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HBB Gene

GenScript: Design optimal peptide antigens:
  • Beta-globin (A1YZ08_HUMAN)
  • Truncated beta-globin (A9YUX2_HUMAN)
  • Hemoglobin beta globin chain (B2M0Y1_HUMAN)
  • Beta-globin Tacoma variant (B2M1S6_HUMAN)
  • Beta-globin Showa Yakushiji variant (B2M1S7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P68871

UniProtKB/Swiss-Prot:

HBB_HUMAN :
  • Belongs to the globin family.
Family:
  • Belongs to the globin family.
genes like me logo Genes that share domains with HBB: view

Function for HBB Gene

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  2. CRISPR
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Molecular function for HBB Gene

UniProtKB/Swiss-Prot Function:
Involved in oxygen transport from the lung to the various peripheral tissues.
UniProtKB/Swiss-Prot Function:
LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.
UniProtKB/Swiss-Prot Function:
[Spinorphin]: functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation.
GENATLAS Biochemistry:
hemoglobin,beta,adult

Phenotypes From GWAS Catalog for HBB Gene

Gene Ontology (GO) - Molecular Function for HBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004601 contributes_to peroxidase activity IDA 19740759
GO:0005344 oxygen carrier activity IEA,NAS 1301199
GO:0005515 protein binding IPI 1552945
GO:0019825 oxygen binding IEA,IDA 11747442
GO:0020037 heme binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with HBB: view
genes like me logo Genes that share phenotypes with HBB: view

Human Phenotype Ontology for HBB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for HBB Gene

miRTarBase miRNAs that target HBB

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBB

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HBB Gene

Localization for HBB Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HBB gene
Compartment Confidence
extracellular 5
cytosol 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 21805676
GO:0005829 cytosol TAS --
GO:0005833 hemoglobin complex IEA,TAS 1540659
GO:0031838 haptoglobin-hemoglobin complex IBA,IDA 19740759
genes like me logo Genes that share ontologies with HBB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for HBB Gene

Pathways & Interactions for HBB Gene

genes like me logo Genes that share pathways with HBB: view

SIGNOR curated interactions for HBB Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis TAS --
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 IEA,TAS 1540659
genes like me logo Genes that share ontologies with HBB: view

Drugs & Compounds for HBB Gene

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(54) Drugs for HBB Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma Carrier, binder 0
Zinc Approved, Investigational Pharma Target 1594
Nitric Oxide Approved Pharma 771
Copper Approved, Investigational Pharma Target 249
Ferric pyrophosphate citrate Approved, Investigational Pharma Target, binder 0

(29) Additional Compounds for HBB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HBB: view

Transcripts for HBB Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for HBB Gene

1 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBB

Alternative Splicing Database (ASD) splice patterns (SP) for HBB Gene

No ASD Table

Relevant External Links for HBB Gene

GeneLoc Exon Structure for
HBB

Expression for HBB Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HBB Gene

mRNA expression in normal human tissues for HBB Gene
mRNA expression by GTEx for HBB GenemRNA expression by BioGPS for HBB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HBB Gene

This gene is overexpressed in Whole Blood (x51.8).

Protein differential expression in normal tissues from HIPED for HBB Gene

This gene is overexpressed in Cerebral cortex (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HBB Gene



Protein tissue co-expression partners for HBB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HBB

SOURCE GeneReport for Unigene cluster for HBB Gene:

Hs.523443

mRNA Expression by UniProt/SwissProt for HBB Gene:

P68871-HBB_HUMAN
Tissue specificity: Red blood cells.

Evidence on tissue expression from TISSUES for HBB Gene

  • Heart(5)
  • Blood(5)
  • Muscle(5)
  • Spleen(4.9)
  • Liver(4.7)
  • Nervous system(4.5)
  • Lung(4.5)
  • Bone marrow(4.4)
  • Pancreas(4.2)
  • Intestine(3.2)
  • Skin(3.1)
  • Kidney(3.1)
  • Gall bladder(3.1)
  • Thyroid gland(3.1)
  • Adrenal gland(3)
  • Bone(2.8)
  • Eye(2.8)
  • Stomach(2.6)
  • Lymph node(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HBB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • pelvis
  • penis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with HBB: view

Orthologs for HBB Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia HBB 30 31
  • 99.77 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LOC609402 30
  • 87.76 (n)
-- 31
  • 86 (a)
 ManyToMany
-- 31
  • 83 (a)
 ManyToMany
Cow
(Bos Taurus)
 Mammalia HBB 31
  • 84 (a)
 ManyToMany
-- 31
  • 79 (a)
 ManyToMany
-- 31
  • 78 (a)
 ManyToMany
-- 31
  • 74 (a)
 ManyToMany
Rat
(Rattus norvegicus)
 Mammalia Hbb 30
  • 82.77 (n)
Mouse
(Mus musculus)
 Mammalia Hbb-bt 30 17 31
  • 82.77 (n)
 ManyToMany
Hbb-bs 17 31
  • 80 (a)
 ManyToMany
Hbb-bh2 31
  • 57 (a)
 ManyToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 77 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 73 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves HBB 31
  • 69 (a)
 ManyToMany
HBE1 31
  • 67 (a)
 ManyToMany
HBE 31
  • 66 (a)
 ManyToMany
HBG1 31
  • 66 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 61 (a)
 OneToMany
African clawed frog
(Xenopus laevis)
 Amphibia LOC397871 30
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia Str.8573 30
Zebrafish
(Danio rerio)
 Actinopterygii hbaa1 31 31
  • 42 (a)
 ManyToMany
si:ch211-5k11.6 31
  • 42 (a)
 ManyToMany
hbz 31
  • 41 (a)
 ManyToMany
hbae3 31
  • 40 (a)
 ManyToMany
si:ch211-5k11.2 31
  • 38 (a)
 ManyToMany
hbae1 31 31
  • 35 (a)
 ManyToMany
Species where no ortholog for HBB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HBB Gene

ENSEMBL:
Gene Tree for HBB (if available)
TreeFam:
Gene Tree for HBB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HBB: view image

Paralogs for HBB Gene

Paralogs for HBB Gene

(12) SIMAP similar genes for HBB Gene using alignment to 46 proteins:

  • HBB_HUMAN
  • A1YZ08_HUMAN
  • A9YUX2_HUMAN
  • B2M0Y1_HUMAN
  • B2M1S6_HUMAN
  • B2M1S7_HUMAN
  • B3VL86_HUMAN
  • B5ANL9_HUMAN
  • C8C504_HUMAN
  • D9YZU5_HUMAN
  • E9M263_HUMAN
  • E9NGZ5_HUMAN
  • F8W6P5_HUMAN
  • J7LKS8_HUMAN
  • O95408_HUMAN
  • O95412_HUMAN
  • Q0Z944_HUMAN
  • Q14477_HUMAN
  • Q14484_HUMAN
  • Q2XP30_HUMAN
  • Q3LR79_HUMAN
  • Q3Y9I8_HUMAN
  • Q4JLR8_HUMAN
  • Q4TWB7_HUMAN
  • Q4TZM4_HUMAN
  • Q52MT0_HUMAN
  • Q5GMQ1_HUMAN
  • Q6J1Z7_HUMAN
  • Q6J1Z8_HUMAN
  • Q6V0K9_HUMAN
  • Q6VFQ5_HUMAN
  • Q6VFQ6_HUMAN
  • Q7Z2K5_HUMAN
  • Q86VF0_HUMAN
  • Q8IUL9_HUMAN
  • Q8IZI0_HUMAN
  • Q9BWU5_HUMAN
  • Q9BWV6_HUMAN
  • Q9GZL9_HUMAN
  • Q9H1I5_HUMAN
  • Q9H1I6_HUMAN
  • Q9HAR8_HUMAN
  • Q9UBV6_HUMAN
  • Q9UK54_HUMAN
  • Q9UP81_HUMAN
  • Q9Y6D8_HUMAN
genes like me logo Genes that share paralogs with HBB: view

Variants for HBB Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for HBB Gene

HBB_HUMAN-P68871
Genetic variations in HBB are involved in resistance to malaria [MIM:611162]. Hemoglobin S (Hb S), which at homozygosity is responsible for sickle cell anemia, is not associated with any clinical abnormality when heterozygous. At heterozygosity, Hb S confers an increase in protection from life-threatening malaria. Additional variants conferring resistance against severe malaria are hemoglobin C (Hb C) and hemoglobin E (Hb E).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HBB Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
15544 Other: HEMOGLOBIN HAKKARI 5,226,797(-) A/C MISSENSE_VARIANT
15616 Pathogenic: Beta-plus-thalassemia 5,225,488(-) A/T THREE_PRIME_UTR_VARIANT
38701 Pathogenic: beta Thalassemia 5,225,388(-) TTCTTTATGTTTTAAA SPLICE_ACCEPTOR_VARIANT
38702 Pathogenic: beta Thalassemia 5,226,162(-) ATTATGTATCAATTAA
660167 Pathogenic: not provided 5,225,465(-) TGCAATGAAAATAAAT SPLICE_ACCEPTOR_VARIANT

Additional dbSNP identifiers (rs#s) for HBB Gene

Structural Variations from Database of Genomic Variants (DGV) for HBB Gene

Variant ID Type Subtype PubMed ID
dgv1041n100 CNV loss 25217958
dgv183e214 CNV loss 21293372
esv3625214 CNV loss 21293372
esv3625215 CNV loss 21293372
esv3891916 CNV loss 25118596
esv3891917 CNV loss 25118596
esv3891918 CNV loss 25118596
nsv1036997 CNV gain 25217958

Variation tolerance for HBB Gene

Residual Variation Intolerance Score: 70.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HBB Gene

Human Gene Mutation Database (HGMD)
HBB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HBB

SNP Genotyping and Copy Number Assay Products

Disorders for HBB Gene

MalaCards: The human disease database

(84) MalaCards diseases for HBB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
beta-thalassemia
  • thalassemia, beta
sickle cell anemia
  • drepanocytosis
beta-thalassemia, dominant inclusion body type
  • dyserythropoietic anemia, congenital, irish or weatherall type
fetal hemoglobin quantitative trait locus 1
  • hbfqtl1
heinz body anemias
  • heinz body anemia
- elite association - COSMIC cancer census association via MalaCards
Search HBB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HBB_HUMAN
  • Heinz body anemias (HEIBAN) [MIM:140700]: 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. {ECO:0000269 PubMed:186485, ECO:0000269 PubMed:2599881, ECO:0000269 PubMed:6259091, ECO:0000269 PubMed:8704193}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:12144064, ECO:0000269 PubMed:12149194, ECO:0000269 PubMed:15481886, ECO:0000269 PubMed:2399911, ECO:0000269 PubMed:6166632, ECO:0000269 PubMed:7693620}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sickle cell anemia (SKCA) [MIM:603903]: 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. {ECO:0000269 PubMed:1195378, ECO:0000269 PubMed:13464827, ECO:0000269 PubMed:16001361, ECO:0000269 PubMed:24100324, ECO:0000269 Ref.10}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:1971109}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HBB Gene

methemoglobinemia,hemoglobinopathic type of Hbm (beta) type,erythremia beta,sickle cell disease,drepanocytosis,Heinz body anemia,beta,thalassemia,beta

Additional Disease Information for HBB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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Publications for HBB Gene

  1. Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations. (PMID: 18694524) Hung CC … Lin WL (BMC biotechnology 2008) 3 23 41
  2. Molecular basis of thalassemia intermedia in Iran. (PMID: 18932071) Akbari MT … Kleanthous M (Hemoglobin 2008) 3 23 41
  3. Heterozygous beta-globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C. (PMID: 17135308) Sartori M … Albano E (Gut 2007) 3 23 41
  4. Molecular analysis of alpha/beta-thalassemia in a southern Chinese population. (PMID: 17394396) Ye BC … Lei Z (Genetic testing 2007) 3 23 41
  5. Rapid screening for glucose-6-phosphate dehydrogenase deficiency and haemoglobin polymorphisms in Africa by a simple high-throughput SSOP-ELISA method. (PMID: 16356170) Enevold A … Alifrangis M (Malaria journal 2005) 3 23 41

ExternalLinks

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Products for HBB Gene

  • Addgene plasmids for HBB

Sources for HBB Gene