Gene | Associated with HEINZ BODY ANEMIAS in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
---|---|---|---|---|---|
HBA1 | OMIM | HGNC link | 16p13.3 | 3 | 604131, 613978, 140700 |
HBA2 | OMIM | HGNC link | 16p13.3 | 3 | 604131, 613978, 140700 |
HBB | OMIM | HGNC link | 11p15.4 | 6 | 140700, 141749, 603902, 603903, 611162, 613985 |
Download the disease annotation in CSV format
Common tandem group | Number of genes in this tandem group associated to this disease | Genes in this tandem group associated to this disease |
---|---|---|
Group 681 | 2 | HBA1, HBA2 |
Shared sub_band | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
16p13.3 | 2 | HBA1, HBA2 |
Shared band | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
16p13 | 2 | HBA1, HBA2 |
Shared region | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
16p1 | 2 | HBA1, HBA2 |
TF | associated to this disease | # regulated genes | Regulated genes | # regulated genes associated with this disease | Regulated genes associated with this disease |
---|---|---|---|---|---|
ATRX | NO | 2 | HBA2, HBA1 | 2 | HBA2, HBA1 |
GATA1 | NO | 52 | PF4, 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, HBA1 | 3 | HBB, HBA2, HBA1 |
regulated gene | associated to this disease | # TFs | TFs | # TFs associated with this disease | TFs associated with this disease |
---|---|---|---|---|---|
HBA1 | YES | 2 | ATRX, GATA1 | 0 | |
HBA2 | YES | 2 | ATRX, GATA1 | 0 | |
HBB | YES | 9 | NFYB, CEBPG, KLF1, NFYA, NFYC, CEBPB, NFE2L2, GATA1, POU2F2 | 0 |
Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|
HBA1 | HBA2 | No | 6 | FN1, UCHL5, VCAM1, OBSL1, CUL7, ITGA4 |
HBA1 | HBB | Yes | 4 | UCHL5, ERBB3, CEP250, PAN2 |
HBA2 | HBB | No | 7 | PGPEP1, MED4, GDPD1, UCHL5, AGA, NDUFAF5, DHRS2 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Direct Interaction | Interaction mode | Number of shared interactors | Shared genes in interaction |
---|---|---|---|---|---|
HBA1 | HBA2 | Yes | binding | 9 | HBD, HBG2, HBB, HBE1, CYB5R3, AHSP, HP, HBQ1, HBZ |
HBA1 | HBB | Yes | binding | 10 | HBA2, HBZ, HBG2, HPR, HBD, HBE1, CYB5R3, AHSP, HP, HBQ1 |
HBA2 | HBB | Yes | binding | 9 | HBA1, HBD, HBG2, HBZ, HBE1, CYB5R3, AHSP, HP, HBQ1 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Interaction | Number of common interactors | Common genes in interaction |
---|---|---|---|---|
HBA1 | HBA2 | Yes | 6 | HBA2, HBB, HP, HBA1; HBA2, HBG2, HBA1 |
HBA1 | HBB | Yes | 5 | HBB, HBA1; HBA2, HP, HBA2, HBA1 |
HBA2 | HBB | Yes | 5 | HBB, HBA1; HBA2, HP, HBA2, HBA1 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Direct interaction | More information |
---|---|---|---|
HBA1 | HBA2 | yes, complex | They form a tetramer. [Uniprot] |
KEGG term | KEGG term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
African trypanosomiasis | hsa05143 | 7.68 | 3 | HBB, HBA2, HBA1 |
Malaria | hsa05144 | 7.15 | 3 | HBB, HBA2, HBA1 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
African trypanosomiasis (hsa05143) | - | 7.68 | 0.001 | HBB, HBA1 |
Infectious diseases: Parasitic | NEW | 4.46 | 0.01 | HBB, HBA1 |
Malaria (hsa05144) | - | 7.15 | 0.0 | HBB, HBA1 |
REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Scavenging of heme from plasma | R-HSA-2168880 | 5.61 | 3 | HBB, HBA2, HBA1 |
O2/CO2 exchange in erythrocytes | R-HSA-1480926 | 9.98 | 3 | HBB, HBA2, HBA1 |
Erythrocytes take up oxygen and release carbon dioxide | R-HSA-1247673 | 9.98 | 3 | HBB, HBA2, HBA1 |
Metabolism | R-HSA-1430728 | 2.34 | 3 | HBB, HBA2, HBA1 |
Binding and Uptake of Ligands by Scavenger Receptors | R-HSA-2173782 | 5.38 | 3 | HBB, HBA2, HBA1 |
Erythrocytes take up carbon dioxide and release oxygen | R-HSA-1237044 | 9.98 | 3 | HBB, HBA2, HBA1 |
Vesicle-mediated transport | R-HSA-5653656 | 4.33 | 3 | HBB, HBA2, HBA1 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Scavenging of heme from plasma (R-HSA-2168880) | - | 5.61 | 0.006 | HBB, HBA1 |
O2/CO2 exchange in erythrocytes (R-HSA-1480926) | - | 9.98 | 0.0 | HBB, HBA1 |
Erythrocytes take up oxygen and release carbon dioxide (R-HSA-1247673) | - | 9.98 | 0.0 | HBB, HBA1 |
Factors involved in megakaryocyte development and platelet production (R-HSA-983231) | NEW | 5.88 | 0.02 | HBB, HBA1 |
Binding and Uptake of Ligands by Scavenger Receptors (R-HSA-2173782) | - | 5.38 | 0.012 | HBB, HBA1 |
Erythrocytes take up carbon dioxide and release oxygen (R-HSA-1237044) | - | 9.98 | 0.0 | HBB, HBA1 |
Vesicle-mediated transport (R-HSA-5653656) | - | 4.33 | 0.025 | HBB, HBA1 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
oxygen transporter activity (GO:0005344) | - | 7.17 | 0.0 | HBB, HBA1 |
oxygen binding (GO:0019825) | - | 5.89 | 0.002 | HBB, HBA1 |
heme binding (GO:0020037) | - | 4.86 | 0.001 | HBB, HBA1 |
tetrapyrrole binding (GO:0046906) | - | 4.8 | 0.001 | HBB, HBA1 |
hemoglobin binding (GO:0030492) | NEW | 8.13 | 0.011 | HBB, HBA1 |
iron ion binding (GO:0005506) | - | 4.65 | 0.002 | HBB, HBA1 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
vesicle lumen (GO:0031983) | - | 5.17 | 0.001 | HBB, HBA1 |
endocytic vesicle lumen (GO:0071682) | - | 7.03 | 0.0 | HBB, HBA1 |
organelle lumen (GO:0043233) | - | 3.05 | 0.037 | HBB, HBA1 |
haptoglobin-hemoglobin complex (GO:0031838) | - | 8.7 | 0.0 | HBB, HBA1 |
blood microparticle (GO:0072562) | - | 4.88 | 0.022 | HBB, HBA1 |
hemoglobin complex (GO:0005833) | - | 7.4 | 0.0 | HBB, HBA1 |
cytoplasmic vesicle part (GO:0044433) | - | 3.41 | 0.03 | HBB, HBA1 |
cytosolic part (GO:0044445) | - | 4.34 | 0.014 | HBB, HBA1 |
membrane-enclosed lumen (GO:0031974) | - | 3.05 | 0.044 | HBB, HBA1 |
cytoplasmic membrane-bounded vesicle lumen (GO:0060205) | - | 5.19 | 0.001 | HBB, HBA1 |
ribosomal subunit (GO:0044391) | NEW | 4.67 | 0.004 | HBB, HBA1 |