Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HBB (hemoglobin subunit beta)

Identity

Alias_nameshemoglobin
Alias_symbol (synonym)CD113t-C
HBD
beta-globin
Other alias
HGNC (Hugo) HBB
LocusID (NCBI) 3043
Atlas_Id 45833
Location 11p15.4  [Link to chromosome band 11p15]
Location_base_pair Starts at 5225466 and ends at 5227071 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HBB (11p15.4) / HBB (11p15.4)HBB (11p15.4) / LRRC2 (3p21.31)HBB (11p15.4) / RNH1 (11p15.5)
HBB (11p15.4) / TCEANC2 (1p32.3)HBB (11p15.4) / ZMIZ2 (7p13)MOGS (2p13.1) / HBB (11p15.4)
RPLP2 (11p15.5) / HBB (11p15.4)UGT3A2 (5p13.2) / HBB (11p15.4)ZDHHC20 (13q12.11) / HBB (11p15.4)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HBB   4827
Cards
Entrez_Gene (NCBI)HBB  3043  hemoglobin subunit beta
AliasesCD113t-C; beta-globin
GeneCards (Weizmann)HBB
Ensembl hg19 (Hinxton)ENSG00000244734 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000244734 [Gene_View]  chr11:5225466-5227071 [Contig_View]  HBB [Vega]
ICGC DataPortalENSG00000244734
TCGA cBioPortalHBB
AceView (NCBI)HBB
Genatlas (Paris)HBB
WikiGenes3043
SOURCE (Princeton)HBB
Genetics Home Reference (NIH)HBB
Genomic and cartography
GoldenPath hg38 (UCSC)HBB  -     chr11:5225466-5227071 -  11p15.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HBB  -     11p15.4   [Description]    (hg19-Feb_2009)
EnsemblHBB - 11p15.4 [CytoView hg19]  HBB - 11p15.4 [CytoView hg38]
Mapping of homologs : NCBIHBB [Mapview hg19]  HBB [Mapview hg38]
OMIM140700   141749   141900   603902   603903   604131   611162   613985   
Gene and transcription
Genbank (Entrez)AF117710 AF181832 AF181989 AF349114 AK311825
RefSeq transcript (Entrez)NM_000518
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HBB
Cluster EST : UnigeneHs.523443 [ NCBI ]
CGAP (NCI)Hs.523443
Alternative Splicing GalleryENSG00000244734
Gene ExpressionHBB [ NCBI-GEO ]   HBB [ EBI - ARRAY_EXPRESS ]   HBB [ SEEK ]   HBB [ MEM ]
Gene Expression Viewer (FireBrowse)HBB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3043
GTEX Portal (Tissue expression)HBB
Human Protein AtlasENSG00000244734-HBB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP68871   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP68871  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP68871
Splice isoforms : SwissVarP68871
PhosPhoSitePlusP68871
Domaine pattern : Prosite (Expaxy)GLOBIN (PS01033)   
Domains : Interpro (EBI)Globin    Globin-like    Globin/Proto    Haemoglobin_b   
Domain families : Pfam (Sanger)Globin (PF00042)   
Domain families : Pfam (NCBI)pfam00042   
Conserved Domain (NCBI)HBB
DMDM Disease mutations3043
Blocks (Seattle)HBB
PDB (SRS)###############################################################################################################################################################################################################################################################   
PDB (PDBSum)###############################################################################################################################################################################################################################################################   
PDB (IMB)###############################################################################################################################################################################################################################################################   
PDB (RSDB)###############################################################################################################################################################################################################################################################   
Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
SuperfamilyP68871
Human Protein Atlas [tissue]ENSG00000244734-HBB [tissue]
Peptide AtlasP68871
HPRD00786
IPIIPI00654755   IPI01018020   IPI00815947   IPI00816644   IPI01018810   IPI00796636   
Protein Interaction databases
DIP (DOE-UCLA)P68871
IntAct (EBI)P68871
FunCoupENSG00000244734
BioGRIDHBB
STRING (EMBL)HBB
ZODIACHBB
Ontologies - Pathways
QuickGOP68871
Ontology : AmiGOperoxidase activity  oxygen transporter activity  iron ion binding  protein binding  extracellular region  cytosol  hemoglobin complex  hemoglobin complex  hemoglobin complex  receptor-mediated endocytosis  blood coagulation  regulation of blood pressure  positive regulation of cell death  oxygen transport  oxygen transport  bicarbonate transport  oxygen binding  heme binding  nitric oxide transport  hemoglobin binding  haptoglobin binding  haptoglobin-hemoglobin complex  response to hydrogen peroxide  hydrogen peroxide catabolic process  neutrophil degranulation  positive regulation of nitric oxide biosynthetic process  regulation of blood vessel size  protein heterooligomerization  extracellular exosome  renal absorption  platelet aggregation  endocytic vesicle lumen  blood microparticle  cellular oxidant detoxification  tertiary granule lumen  ficolin-1-rich granule lumen  
Ontology : EGO-EBIperoxidase activity  oxygen transporter activity  iron ion binding  protein binding  extracellular region  cytosol  hemoglobin complex  hemoglobin complex  hemoglobin complex  receptor-mediated endocytosis  blood coagulation  regulation of blood pressure  positive regulation of cell death  oxygen transport  oxygen transport  bicarbonate transport  oxygen binding  heme binding  nitric oxide transport  hemoglobin binding  haptoglobin binding  haptoglobin-hemoglobin complex  response to hydrogen peroxide  hydrogen peroxide catabolic process  neutrophil degranulation  positive regulation of nitric oxide biosynthetic process  regulation of blood vessel size  protein heterooligomerization  extracellular exosome  renal absorption  platelet aggregation  endocytic vesicle lumen  blood microparticle  cellular oxidant detoxification  tertiary granule lumen  ficolin-1-rich granule lumen  
Pathways : BIOCARTAHemoglobin's Chaperone [Genes]   
Pathways : KEGGAfrican trypanosomiasis    Malaria   
NDEx NetworkHBB
Atlas of Cancer Signalling NetworkHBB
Wikipedia pathwaysHBB
Orthology - Evolution
OrthoDB3043
GeneTree (enSembl)ENSG00000244734
Phylogenetic Trees/Animal Genes : TreeFamHBB
HOVERGENP68871
HOGENOMP68871
Homologs : HomoloGeneHBB
Homology/Alignments : Family Browser (UCSC)HBB
Gene fusions - Rearrangements
Fusion: Tumor Portal HBB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHBB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HBB
dbVarHBB
ClinVarHBB
1000_GenomesHBB 
Exome Variant ServerHBB
ExAC (Exome Aggregation Consortium)ENSG00000244734
GNOMAD BrowserENSG00000244734
Genetic variants : HAPMAP3043
Genomic Variants (DGV)HBB [DGVbeta]
DECIPHERHBB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHBB 
Mutations
ICGC Data PortalHBB 
TCGA Data PortalHBB 
Broad Tumor PortalHBB
OASIS PortalHBB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHBB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHBB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)The Globin Gene Server
BioMutasearch HBB
DgiDB (Drug Gene Interaction Database)HBB
DoCM (Curated mutations)HBB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HBB (select a term)
intoGenHBB
Cancer3DHBB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM140700    141749    141900    603902    603903    604131    611162    613985   
Orphanet125    18014    19638    19636    19637    19634    19635    3653    3654    19177    19176    19175    19173    19172    19171    21962    21963    10601    11936   
MedgenHBB
Genetic Testing Registry HBB
NextProtP68871 [Medical]
TSGene3043
GENETestsHBB
Target ValidationHBB
Huge Navigator HBB [HugePedia]
snp3D : Map Gene to Disease3043
BioCentury BCIQHBB
ClinGenHBB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3043
Chemical/Pharm GKB GenePA29202
Clinical trialHBB
Miscellaneous
canSAR (ICR)HBB (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHBB
EVEXHBB
GoPubMedHBB
iHOPHBB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 12:52:25 CET 2017

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