HBG1 (hemoglobin subunit gamma 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3047
Gene name Hemoglobin subunit gamma 1
Gene symbol HBG1
Synonyms (NCBI Gene)
HBG-T2HBGAHBGRHSGGL1PRO2979
Chromosome 11
Chromosome location 11p15.4
Summary The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In s
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs35321913 G>C Pathogenic Upstream transcript variant
rs35378915 C>T Pathogenic Upstream transcript variant
rs35710727 A>G Pathogenic Upstream transcript variant
rs35983258 G>A Pathogenic Upstream transcript variant
rs281860601 G>A,C,T Pathogenic Upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT736102 hsa-miR-3619-5p MicroarrayqRT-PCR 31541070
MIRT2241119 hsa-miR-214 CLIP-seq
MIRT2241120 hsa-miR-4291 CLIP-seq
MIRT2241121 hsa-miR-4695-3p CLIP-seq
MIRT2241122 hsa-miR-761 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
GATA1 Unknown 12609092;16200778;2336386
KLF3 Unknown 12621553
POU2F1 Repression 2336386
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005344 Function Oxygen carrier activity IBA
GO:0005344 Function Oxygen carrier activity IDA 22096240
GO:0005344 Function Oxygen carrier activity IEA
GO:0005829 Component Cytosol TAS
GO:0005833 Component Hemoglobin complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142200 4831 ENSG00000213934
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P69891
Protein name Hemoglobin subunit gamma-1 (Gamma-1-globin) (Hb F Agamma) (Hemoglobin gamma-1 chain) (Hemoglobin gamma-A chain)
Protein function Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.
PDB 1I3D , 1I3E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00042 Globin 8 → 112 Globin Domain
Tissue specificity TISSUE SPECIFICITY: Red blood cells.
Sequence
Sequence length 147
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
British HPFH Pathogenic rs35710727 RCV000016175
Greek HPFH Pathogenic rs35378915 RCV000016173
Hereditary persistence of fetal hemoglobin Pathogenic rs35378915, rs35710727, rs35983258, rs35321913, rs281860601, rs1554921759 RCV001814965
RCV001814966
RCV001814967
RCV001814968
RCV001814969
RCV001814970
Sardinian HPFH Pathogenic rs35378915 RCV000016172
Show/Hide Unknown Diseases (32)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs63749797 -
Fetal hemoglobin quantitative trait locus 1 Likely benign rs33963857 RCV001801846
HBG1 POLYMORPHISM Benign rs1061234 RCV000016145
HBG1-related disorder Benign rs371890964, rs757054403 RCV003979837
RCV003982314
Show/Hide Text Mining Associations (39)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
alpha Thalassemia Associate 17488699
Anemia Associate 20712788, 21390308, 26603726, 29333458, 6584911
Anemia Sickle Cell Associate 10373600, 15287957, 15537646, 15828874, 17662889, 18667698, 19327156, 19346141, 20495075, 20602015, 20932329, 22537182, 24157834, 2462713, 26509275
View all (27 more)
Atrial Fibrillation Associate 35138035
beta Thalassemia Associate 11172039, 11559936, 12176917, 12210807, 15287957, 16304356, 17614826, 17654503, 19327156, 19346141, 20495075, 20712788, 20716049, 20932329, 21390308
View all (39 more)
beta Thalassemia Stimulate 1932755
Delta Beta Thalassemia Associate 11421306, 12176917, 2822174, 3179447, 3828530, 468997, 6162860, 6179097, 6327288, 7515719
Disease Associate 10050705, 15537646, 40665149, 508945
Drug Hypersensitivity Associate 8400240
Encephalitis Herpes Simplex Associate 1688505