Disease table of HEMOGLOBIN H DISEASE OMIM ID: 613978

Gene-disease associations table

GeneAssociated with HEMOGLOBIN H DISEASE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
HBA1OMIMHGNC link16p13.33604131, 613978, 140700
HBA2OMIMHGNC link16p13.33604131, 613978, 140700

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 6812HBA1, HBA2
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
16p13.32HBA1, HBA2
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
16p132HBA1, HBA2
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
16p12HBA1, HBA2
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
16p2HBA1, HBA2
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
162HBA1, HBA2
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
ATRXNO2HBA2, HBA12HBA2, HBA1
GATA1NO52PF4, PBXIP1, CBFB, GP1BA, GP9, KLF1, FCER1A, ITGA2B, EPO, SEMG1, TBXA2R, BACE1, DACH1, PTGFR, GP6, HBA2, DPYSL2, GYPB, TAL1, CYBB, COPS5, DICER1, CDA, FURIN, GNAS, WT1, ZNF268, BDKRB1, SPI1, GP1BB, NFE2, F13A1, GFI1B, MPL, AGGF1, CCR3, GATA1, IFNG, HEMGN, HBE1, BACH1, PPOX, CEBPA, CDC6, HBB, PRG2, FLI1, EPOR, IL1RL1, SMAD1, HBG1, HBA12HBA2, HBA1
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
HBA1YES2ATRX, GATA10
HBA2YES2ATRX, GATA10
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
HBA1HBA2No6FN1, UCHL5, VCAM1, OBSL1, CUL7, ITGA4

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
HBA1HBA2Yesbinding9HBD, HBG2, HBB, HBE1, CYB5R3, AHSP, HP, HBQ1, HBZ

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
HBA1HBA2Yes6HBA2, HBB, HP, HBA1; HBA2, HBG2, HBA1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
HBA1HBA2yes, complexThey form a tetramer. [Uniprot]
KEGG pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
African trypanosomiasishsa051437.682HBA2, HBA1
Malariahsa051447.152HBA2, HBA1
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Scavenging of heme from plasmaR-HSA-21688805.612HBA2, HBA1
O2/CO2 exchange in erythrocytesR-HSA-14809269.982HBA2, HBA1
Erythrocytes take up oxygen and release carbon dioxideR-HSA-12476739.982HBA2, HBA1
MetabolismR-HSA-14307282.342HBA2, HBA1
Binding and Uptake of Ligands by Scavenger ReceptorsR-HSA-21737825.382HBA2, HBA1
Erythrocytes take up carbon dioxide and release oxygenR-HSA-12370449.982HBA2, HBA1
Vesicle-mediated transportR-HSA-56536564.332HBA2, HBA1
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.42HBA2, HBA1
oxygen transporter activity (GO:0005344) 7.172HBA2, HBA1
oxygen binding (GO:0019825) 5.892HBA2, HBA1
transition metal ion binding (GO:0046914) 2.482HBA2, HBA1
heme binding (GO:0020037) 4.862HBA2, HBA1
tetrapyrrole binding (GO:0046906) 4.82HBA2, HBA1
transporter activity (GO:0005215) 2.572HBA2, HBA1
ion binding (GO:0043167) 1.362HBA2, HBA1
substrate-specific transporter activity (GO:0022892) 2.722HBA2, HBA1
binding (GO:0005488) 0.182HBA2, HBA1
organic cyclic compound binding (GO:0097159) 1.052HBA2, HBA1
iron ion binding (GO:0005506) 4.652HBA2, HBA1
metal ion binding (GO:0046872) 1.412HBA2, HBA1
heterocyclic compound binding (GO:1901363) 1.062HBA2, HBA1
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
single-organism process (GO:0044699) 0.482HBA2, HBA1
transport (GO:0006810) 1.512HBA2, HBA1
gas transport (GO:0015669) 6.782HBA2, HBA1
single-organism transport (GO:0044765) 2.182HBA2, HBA1
oxygen transport (GO:0015671) 7.092HBA2, HBA1
establishment of localization (GO:0051234) 1.482HBA2, HBA1
localization (GO:0051179) 1.42HBA2, HBA1
single-organism localization (GO:1902578) 2.092HBA2, HBA1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512HBA2, HBA1
macromolecular complex (GO:0032991) 1.352HBA2, HBA1
cell part (GO:0044464) 0.112HBA2, HBA1
hemoglobin complex (GO:0005833) 7.42HBA2, HBA1
cytoplasmic part (GO:0044444) 0.822HBA2, HBA1
cytosolic part (GO:0044445) 4.342HBA2, HBA1
intracellular part (GO:0044424) 0.282HBA2, HBA1