Disease table of FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 OMIM ID: 141749

Gene-disease associations table

GeneAssociated with FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
HBG2ClinVar, OMIMHGNC link11p15.42141749, 613977
HBG1ClinVar, OMIMHGNC link11p15.41141749
HBBOMIMHGNC link11p15.46140700, 141749, 603902, 603903, 611162, 613985

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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 4983HBG1, HBG2, HBB
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
11p15.43HBG1, HBG2, HBB
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
11p153HBG1, HBG2, HBB
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
11p13HBG1, HBG2, HBB
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
11p3HBG1, HBG2, HBB
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
113HBG1, HBG2, HBB
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
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, HBA12HBB, HBG1
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
HBG1YES3GATA1, KLF3, POU2F10
HBBYES9NFYB, CEBPG, KLF1, NFYA, NFYC, CEBPB, NFE2L2, GATA1, POU2F20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
HBG2HBG1No5VCAM1, MCM2, ERBB3, ITGA4, APP
HBG2HBBNo2MCM2, ERBB3
HBG1HBBNo2MCM2, ERBB3

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
HBG2HBBYesbinding10HBA2, HBA1, HBD, NFE2, MAFK, HBZ, CYB5R3, MAFG, MAFF, HBE1

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
HBG2HBBNo3HBA2, HBA1; HBA2, HBA1

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

Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
HBBHBG1yes, maybe indirectThey interacts with the alpha chain of hemoglobin
HBBHBG2yes, maybe indirectThey interacts with the alpha chain of hemoglobin
HBG1HBG2yes, maybe indirectThey interacts with the alpha chain of hemoglobin
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Factors involved in megakaryocyte development and platelet productionR-HSA-9832315.883HBB, HBG2, HBG1
HemostasisR-HSA-1095823.983HBB, HBG2, HBG1

NET-GE enrichment

Term New enriched termICP valueGenes
Factors involved in megakaryocyte development and platelet production (R-HSA-983231) -5.880.014HBB, HBG2
Hemostasis (R-HSA-109582) -3.980.04HBB, HBG2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.43HBB, HBG2, HBG1
oxygen transporter activity (GO:0005344) 7.173HBB, HBG2, HBG1
substrate-specific transporter activity (GO:0022892) 2.723HBB, HBG2, HBG1
heme binding (GO:0020037) 4.863HBB, HBG2, HBG1
transition metal ion binding (GO:0046914) 2.483HBB, HBG2, HBG1
tetrapyrrole binding (GO:0046906) 4.83HBB, HBG2, HBG1
transporter activity (GO:0005215) 2.573HBB, HBG2, HBG1
ion binding (GO:0043167) 1.363HBB, HBG2, HBG1
oxygen binding (GO:0019825) 5.893HBB, HBG2, HBG1
binding (GO:0005488) 0.183HBB, HBG2, HBG1
organic cyclic compound binding (GO:0097159) 1.053HBB, HBG2, HBG1
iron ion binding (GO:0005506) 4.653HBB, HBG2, HBG1
metal ion binding (GO:0046872) 1.413HBB, HBG2, HBG1
heterocyclic compound binding (GO:1901363) 1.063HBB, HBG2, HBG1
protein binding (GO:0005515) 0.462HBB, HBG2

NET-GE enrichment

Term New enriched termICP valueGenes
oxygen transporter activity (GO:0005344) -7.170.0HBB, HBG2
oxygen binding (GO:0019825) -5.890.001HBB, HBG2
heme binding (GO:0020037) -4.860.001HBB, HBG2
tetrapyrrole binding (GO:0046906) -4.80.001HBB, HBG2
iron ion binding (GO:0005506) -4.650.002HBB, HBG2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
establishment of localization (GO:0051234) 1.483HBB, HBG2, HBG1
blood coagulation (GO:0007596) 4.523HBB, HBG2, HBG1
hemostasis (GO:0007599) 4.53HBB, HBG2, HBG1
regulation of body fluid levels (GO:0050878) 3.763HBB, HBG2, HBG1
single-multicellular organism process (GO:0044707) 1.783HBB, HBG2, HBG1
multicellular organismal process (GO:0032501) 1.453HBB, HBG2, HBG1
transport (GO:0006810) 1.513HBB, HBG2, HBG1
gas transport (GO:0015669) 6.783HBB, HBG2, HBG1
single-organism transport (GO:0044765) 2.183HBB, HBG2, HBG1
coagulation (GO:0050817) 4.513HBB, HBG2, HBG1
biological regulation (GO:0065007) 0.393HBB, HBG2, HBG1
oxygen transport (GO:0015671) 7.093HBB, HBG2, HBG1
single-organism localization (GO:1902578) 2.093HBB, HBG2, HBG1
regulation of biological quality (GO:0065008) 1.683HBB, HBG2, HBG1
localization (GO:0051179) 1.43HBB, HBG2, HBG1
single-organism process (GO:0044699) 0.483HBB, HBG2, HBG1

NET-GE enrichment

Term New enriched termICP valueGenes
gas transport (GO:0015669) -6.780.0HBB, HBG2
hemopoiesis (GO:0030097) NEW5.070.028HBB, HBG2
oxygen transport (GO:0015671) -7.090.0HBB, HBG2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.513HBB, HBG2, HBG1
macromolecular complex (GO:0032991) 1.353HBB, HBG2, HBG1
cytosol (GO:0005829) 1.683HBB, HBG2, HBG1
cell part (GO:0044464) 0.113HBB, HBG2, HBG1
hemoglobin complex (GO:0005833) 7.43HBB, HBG2, HBG1
cytoplasmic part (GO:0044444) 0.823HBB, HBG2, HBG1
cytosolic part (GO:0044445) 4.343HBB, HBG2, HBG1
intracellular part (GO:0044424) 0.283HBB, HBG2, HBG1
extracellular region part (GO:0044421) 1.572HBB, HBG2
blood microparticle (GO:0072562) 4.882HBB, HBG2

NET-GE enrichment

Term New enriched termICP valueGenes
cytosolic part (GO:0044445) -4.340.003HBB, HBG2
blood microparticle (GO:0072562) -4.880.016HBB, HBG2
hemoglobin complex (GO:0005833) -7.40.0HBB, HBG2