HBG2 (hemoglobin subunit gamma 2)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3048
Gene name Hemoglobin subunit gamma 2
Gene symbol HBG2
Synonyms (NCBI Gene)
HBG-T1TNCY
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.
9
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
SNP ID Visualize variation Clinical significance Consequence
rs34474104 G>A Pathogenic Coding sequence variant, missense variant
rs34809449 G>A,C,T Pathogenic Upstream transcript variant
rs34878913 A>G Pathogenic Coding sequence variant, missense variant
rs35103459 G>A Pathogenic Coding sequence variant, missense variant
rs35617911 G>A,C,T Pathogenic Upstream transcript variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0005344 Function Oxygen carrier activity IBA
GO:0005344 Function Oxygen carrier activity IDA 19065339
GO:0005344 Function Oxygen carrier activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142250 4832 ENSG00000196565
Protein Protein information from UniProt database.
Gene SNPs 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.
P69892
Protein name Hemoglobin subunit gamma-2 (Gamma-2-globin) (Hb F Ggamma) (Hemoglobin gamma-2 chain) (Hemoglobin gamma-G chain)
Protein function Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.
PDB 1FDH , 4MQJ , 4MQK , 7QU4
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 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 Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cyanosis, transient neonatal Likely pathogenic; Pathogenic rs34474104, rs35103459, rs1438114920, rs2494334628, rs587776864, rs1278163109 RCV000016121
RCV000016129
RCV004017187
RCV000022614
RCV000022615
RCV000984481
Hereditary persistence of fetal hemoglobin Pathogenic rs35617911, rs63750654, rs34809449, rs866138115 RCV001814960
RCV001814961
RCV001814963
RCV001814964
RCV001814972
Show/Hide Unknown Diseases (39)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HEMOGLOBIN F (ALBAICIN) other rs35521813 RCV000016097
HEMOGLOBIN F (AUCKLAND) other rs34501593 RCV000016098
HEMOGLOBIN F (AUSTELL) Likely benign rs281864892 RCV000016126
HEMOGLOBIN F (BROOKLYN) Likely benign rs34264694 RCV000016127
Show/Hide Text Mining Associations (20)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 17157413
Anemia Associate 21561349, 22885163
Anemia Hemolytic Associate 23713742
Anemia Sickle Cell Associate 18667698, 20602015, 22885163, 25084696, 25263325, 27525524, 27838552, 28280727, 30911135
Ascorbic Acid Deficiency Stimulate 22885163
beta Thalassemia Associate 19050890, 22271886, 25480500, 25842369, 27525524, 28280727, 30777047, 30911135, 34091621, 35269949
Congenital Bone Marrow Failure Syndromes Associate 23713742
Cyanosis Associate 21561349, 36837579
Diabetes Mellitus Type 2 Associate 36339449
Dyskeratosis Congenita Associate 23713742