HBG1 (hemoglobin subunit gamma 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3047
Gene name Gene Name - the full gene name approved by the HGNC.
Hemoglobin subunit gamma 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HBG1
Synonyms (NCBI Gene) Gene synonyms aliases
HBG-T2, HBGA, HBGR, HSGGL1, PRO2979
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.4
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT736102 hsa-miR-3619-5p Microarray, qRT-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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
GATA1 Unknown 12609092;16200778;2336386
KLF3 Unknown 12621553
POU2F1 Repression 2336386
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142200 4831 ENSG00000213934
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Delta-Beta Thalassemia delta-beta-thalassemia N/A N/A GenCC
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome N/A N/A GenCC
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome hereditary persistence of fetal hemoglobin-sickle cell disease syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (39)
Associations from Text Mining Disease 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