HBB (hemoglobin subunit beta)

2007-02-01  

Identity

HGNC
HBB
LOCATION
11p15.4
LOCUSID
3043
ALIAS
CD113t-C,ECYT6,beta-globin
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3043
MIM: 141900
HGNC: 4827
Ensembl: ENSG00000244734

Variants:

dbSNP: 3043
ClinVar: 3043
TCGA: ENSG00000244734
COSMIC: HBB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000244734ENST00000335295P68871
ENSG00000244734ENST00000335295D9YZU5
ENSG00000244734ENST00000380315F8W6P5
ENSG00000244734ENST00000485743A0A2R8Y7R2
ENSG00000244734ENST00000633227A0A0J9YWK4
ENSG00000244734ENST00000647020P68871
ENSG00000244734ENST00000647020D9YZU5

Expression (GTEx)

0
50000
100000
150000
200000
250000
300000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MalariaKEGGko05144
MalariaKEGGhsa05144
African trypanosomiasisKEGGko05143
African trypanosomiasisKEGGhsa05143
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
Vesicle-mediated transportREACTOMER-HSA-5653656
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging of heme from plasmaREACTOMER-HSA-2168880
MetabolismREACTOMER-HSA-1430728
O2/CO2 exchange in erythrocytesREACTOMER-HSA-1480926
Erythrocytes take up carbon dioxide and release oxygenREACTOMER-HSA-1237044
Erythrocytes take up oxygen and release carbon dioxideREACTOMER-HSA-1247673
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166189802voxelotorChemicalLabelAnnotationassociated
PA166190001luspatercept-aamtChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
380096422024Sickle cell allele HBB-rs334(T) is associated with decreased risk of childhood Burkitt lymphoma in East Africa.0
384250972024β(0)-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].0
386797282024HBB as a Novel Biomarker for the Diagnosis and Monitoring of Lung Cancer Regulates Cell Proliferation via ERK1/2 Pathway.0
380096422024Sickle cell allele HBB-rs334(T) is associated with decreased risk of childhood Burkitt lymphoma in East Africa.0
384250972024β(0)-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].0
386797282024HBB as a Novel Biomarker for the Diagnosis and Monitoring of Lung Cancer Regulates Cell Proliferation via ERK1/2 Pathway.0
362141532023Molecular characterization of a novel homozygous deletion in β-globin cluster causing (δβ)(0)-Thalassemia among Tunisian family.0
368113262023β-thalassemia intermedia mimicking β-thalassemia trait: The importance of family studies and HBB genotyping in phenotypically ambiguous cases.0
370923662023Fist Detection of Hb Suqian[β42(CD1) Phe→Leu, HBB:c.129T > A] in Han Chinese.0
373090662023Molecular Basis and Hematologic Phenotype of Hemoglobin H Disease Combined with Two Rare β-Globin Mutations.0
373100502023Clinical, Biochemical, and Hematological Presentation of a ß (+) Thalassemia due to the Poly A (T- > C) Mutation (HBB c.*110T > C (rs33978907)) Discovered in a Senegalese Family.0
373539562023Dominant inherited β-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB.0
375190972023Transfusion requirements and complication rate in β-thalassemia intermedia due to heterozygous β-globin gene mutation and triplicated α-globin genes.0
375298582023Beta Globin Gene Cluster Haplotypes in Beta Thalassemia in the Kurdistan Region of Iraq.0
375481742023The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.0

Citation

Dessen P

HBB (hemoglobin subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45833/teaching-explorer/welcome