Gene | Associated with FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
---|---|---|---|---|---|
HBG2 | ClinVar, OMIM | HGNC link | 11p15.4 | 2 | 141749, 613977 |
HBG1 | ClinVar, OMIM | HGNC link | 11p15.4 | 1 | 141749 |
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 498 | 3 | HBG1, HBG2, HBB |
Shared sub_band | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
11p15.4 | 3 | HBG1, HBG2, HBB |
Shared band | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
11p15 | 3 | HBG1, HBG2, HBB |
Shared region | Number of genes associated with the disease | Genes associated with the disease |
---|---|---|
11p1 | 3 | HBG1, HBG2, HBB |
TF | associated to this disease | # regulated genes | Regulated genes | # regulated genes associated with this disease | Regulated genes associated with this disease |
---|---|---|---|---|---|
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 | 2 | HBB, HBG1 |
regulated gene | associated to this disease | # TFs | TFs | # TFs associated with this disease | TFs associated with this disease |
---|---|---|---|---|---|
HBG1 | YES | 3 | GATA1, KLF3, POU2F1 | 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 |
---|---|---|---|---|
HBG2 | HBG1 | No | 5 | VCAM1, MCM2, ERBB3, ITGA4, APP |
HBG2 | HBB | No | 2 | MCM2, ERBB3 |
HBG1 | HBB | No | 2 | MCM2, ERBB3 |
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 |
---|---|---|---|---|---|
HBG2 | HBB | Yes | binding | 10 | HBA2, HBA1, HBD, NFE2, MAFK, HBZ, CYB5R3, MAFG, MAFF, HBE1 |
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 |
---|---|---|---|---|
HBG2 | HBB | No | 3 | HBA2, HBA1; HBA2, HBA1 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Gene1 | Gene2 | Direct interaction | More information |
---|---|---|---|
HBB | HBG1 | yes, maybe indirect | They interacts with the alpha chain of hemoglobin |
HBB | HBG2 | yes, maybe indirect | They interacts with the alpha chain of hemoglobin |
HBG1 | HBG2 | yes, maybe indirect | They interacts with the alpha chain of hemoglobin |
REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
---|---|---|---|---|
Factors involved in megakaryocyte development and platelet production | R-HSA-983231 | 5.88 | 3 | HBB, HBG2, HBG1 |
Hemostasis | R-HSA-109582 | 3.98 | 3 | HBB, HBG2, HBG1 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
Factors involved in megakaryocyte development and platelet production (R-HSA-983231) | - | 5.88 | 0.014 | HBB, HBG2 |
Hemostasis (R-HSA-109582) | - | 3.98 | 0.04 | HBB, HBG2 |
GO | IC | Number of genes with the same GO | Genes |
---|---|---|---|
cation binding (GO:0043169) | 1.4 | 3 | HBB, HBG2, HBG1 |
oxygen transporter activity (GO:0005344) | 7.17 | 3 | HBB, HBG2, HBG1 |
substrate-specific transporter activity (GO:0022892) | 2.72 | 3 | HBB, HBG2, HBG1 |
heme binding (GO:0020037) | 4.86 | 3 | HBB, HBG2, HBG1 |
transition metal ion binding (GO:0046914) | 2.48 | 3 | HBB, HBG2, HBG1 |
tetrapyrrole binding (GO:0046906) | 4.8 | 3 | HBB, HBG2, HBG1 |
transporter activity (GO:0005215) | 2.57 | 3 | HBB, HBG2, HBG1 |
ion binding (GO:0043167) | 1.36 | 3 | HBB, HBG2, HBG1 |
oxygen binding (GO:0019825) | 5.89 | 3 | HBB, HBG2, HBG1 |
binding (GO:0005488) | 0.18 | 3 | HBB, HBG2, HBG1 |
organic cyclic compound binding (GO:0097159) | 1.05 | 3 | HBB, HBG2, HBG1 |
iron ion binding (GO:0005506) | 4.65 | 3 | HBB, HBG2, HBG1 |
metal ion binding (GO:0046872) | 1.41 | 3 | HBB, HBG2, HBG1 |
heterocyclic compound binding (GO:1901363) | 1.06 | 3 | HBB, HBG2, HBG1 |
protein binding (GO:0005515) | 0.46 | 2 | HBB, HBG2 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
oxygen transporter activity (GO:0005344) | - | 7.17 | 0.0 | HBB, HBG2 |
oxygen binding (GO:0019825) | - | 5.89 | 0.001 | HBB, HBG2 |
heme binding (GO:0020037) | - | 4.86 | 0.001 | HBB, HBG2 |
tetrapyrrole binding (GO:0046906) | - | 4.8 | 0.001 | HBB, HBG2 |
iron ion binding (GO:0005506) | - | 4.65 | 0.002 | HBB, HBG2 |
GO | IC | Number of genes with the same GO | Genes |
---|---|---|---|
establishment of localization (GO:0051234) | 1.48 | 3 | HBB, HBG2, HBG1 |
blood coagulation (GO:0007596) | 4.52 | 3 | HBB, HBG2, HBG1 |
hemostasis (GO:0007599) | 4.5 | 3 | HBB, HBG2, HBG1 |
regulation of body fluid levels (GO:0050878) | 3.76 | 3 | HBB, HBG2, HBG1 |
single-multicellular organism process (GO:0044707) | 1.78 | 3 | HBB, HBG2, HBG1 |
multicellular organismal process (GO:0032501) | 1.45 | 3 | HBB, HBG2, HBG1 |
transport (GO:0006810) | 1.51 | 3 | HBB, HBG2, HBG1 |
gas transport (GO:0015669) | 6.78 | 3 | HBB, HBG2, HBG1 |
single-organism transport (GO:0044765) | 2.18 | 3 | HBB, HBG2, HBG1 |
coagulation (GO:0050817) | 4.51 | 3 | HBB, HBG2, HBG1 |
biological regulation (GO:0065007) | 0.39 | 3 | HBB, HBG2, HBG1 |
oxygen transport (GO:0015671) | 7.09 | 3 | HBB, HBG2, HBG1 |
single-organism localization (GO:1902578) | 2.09 | 3 | HBB, HBG2, HBG1 |
regulation of biological quality (GO:0065008) | 1.68 | 3 | HBB, HBG2, HBG1 |
localization (GO:0051179) | 1.4 | 3 | HBB, HBG2, HBG1 |
single-organism process (GO:0044699) | 0.48 | 3 | HBB, HBG2, HBG1 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
gas transport (GO:0015669) | - | 6.78 | 0.0 | HBB, HBG2 |
hemopoiesis (GO:0030097) | NEW | 5.07 | 0.028 | HBB, HBG2 |
oxygen transport (GO:0015671) | - | 7.09 | 0.0 | HBB, HBG2 |
GO | IC | Number of genes with the same GO | Genes |
---|---|---|---|
protein complex (GO:0043234) | 1.51 | 3 | HBB, HBG2, HBG1 |
macromolecular complex (GO:0032991) | 1.35 | 3 | HBB, HBG2, HBG1 |
cytosol (GO:0005829) | 1.68 | 3 | HBB, HBG2, HBG1 |
cell part (GO:0044464) | 0.11 | 3 | HBB, HBG2, HBG1 |
hemoglobin complex (GO:0005833) | 7.4 | 3 | HBB, HBG2, HBG1 |
cytoplasmic part (GO:0044444) | 0.82 | 3 | HBB, HBG2, HBG1 |
cytosolic part (GO:0044445) | 4.34 | 3 | HBB, HBG2, HBG1 |
intracellular part (GO:0044424) | 0.28 | 3 | HBB, HBG2, HBG1 |
extracellular region part (GO:0044421) | 1.57 | 2 | HBB, HBG2 |
blood microparticle (GO:0072562) | 4.88 | 2 | HBB, HBG2 |
Term | New enriched term | IC | P value | Genes |
---|---|---|---|---|
cytosolic part (GO:0044445) | - | 4.34 | 0.003 | HBB, HBG2 |
blood microparticle (GO:0072562) | - | 4.88 | 0.016 | HBB, HBG2 |
hemoglobin complex (GO:0005833) | - | 7.4 | 0.0 | HBB, HBG2 |