ENSG00000223609


Homo sapiens

Features
Gene ID: ENSG00000223609
  
Biological name :HBD
  
Synonyms : HBD / hemoglobin subunit delta / P02042
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: p15.4
Gene start: 5232678
Gene end: 5243657
  
Corresponding Affymetrix probe sets: 206834_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000292901
Ensembl peptide - ENSP00000494708
Ensembl peptide - ENSP00000414741
Ensembl peptide - ENSP00000393810
Ensembl peptide - ENSP00000369654
NCBI entrez gene - 3045     See in Manteia.
OMIM - 142000
RefSeq - NM_000519
RefSeq Peptide - NP_000510
swissprot - C9JRG0
swissprot - E9PFT6
swissprot - P02042
swissprot - A0N071
swissprot - E9PEW8
Ensembl - ENSG00000223609
  
Related genetic diseases (OMIM): 142000 - Thalassemia due to Hb Lepore
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 AL935210.1ENSDARG00000087390Danio rerio
 hbba1ENSDARG00000097238Danio rerio
 hbba1ENSDARG00000089087Danio rerio
 hbba2ENSDARG00000069734Danio rerio
 hbbe1.1ENSDARG00000113599Danio rerio
 hbbe1.2ENSDARG00000115405Danio rerio
 hbbe2ENSDARG00000045143Danio rerio
 hbbe3ENSDARG00000038147Danio rerio
 HBBAENSGALG00000028273Gallus gallus
 HBBRENSGALG00000017347Gallus gallus
 Hbb-bsENSMUSG00000052305Mus musculus
 Hbb-btENSMUSG00000073940Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HBB / P68871 / hemoglobin subunit betaENSG0000024473493
HBE1 / P02100 / hemoglobin subunit epsilon 1ENSG0000021393173
HBG2 / P69892 / hemoglobin subunit gamma 2ENSG0000019656572
AC104389.5ENSG0000028493171
HBG1 / P69891 / hemoglobin subunit gamma 1ENSG0000021393471
HBA2 / P69905 / hemoglobin subunit alpha 2ENSG0000018853644
HBA1 / P69905 / hemoglobin subunit alpha 1ENSG0000020617244
HBQ1 / P09105 / hemoglobin subunit theta 1ENSG0000008650639
HBZ / P02008 / hemoglobin subunit zetaENSG0000013065638
HBM / Q6B0K9 / hemoglobin subunit muENSG0000020617735


Protein motifs (from Interpro)
Interpro ID Name
 IPR000971  Globin
 IPR002337  Haemoglobin, beta-type
 IPR009050  Globin-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0015671 oxygen transport IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005833 hemoglobin complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0005344 oxygen carrier activity IEA
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019825 oxygen binding IEA
 molecular_functionGO:0020037 heme binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Factors involved in megakaryocyte development and platelet production


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001935 Microcytic anemia 
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 HP:0011902 Abnormal hemoglobin "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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