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HBG2 (hemoglobin subunit gamma 2)
Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3048
Gene nameGene Name - the full gene name approved by the HGNC.
Hemoglobin subunit gamma 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
HBG2
SynonymsGene synonyms aliases
HBG-T1, TNCY
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.4
SummarySummary 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 some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5`- epsilon -- gamma-G -- gamma-A -- delta -- beta--3`. [provided by RefSeq, Jul 2008]
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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 information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0004601 Function Peroxidase activity IBA 21873635
GO:0005344 Function Oxygen carrier activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol TAS
GO:0005833 Component Hemoglobin complex IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00042 Globin
8 → 112
Globin
 Domain
Sequence
Sequence length 147
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Factors involved in megakaryocyte development and platelet production
Associated diseases
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Methemoglobinemia Methemoglobinemia rs794728010, rs121965006, rs121965007, rs121965008, rs794728011, rs200872504, rs121965010, rs121965011, rs794728012, rs121965012, rs794728013, rs121965013, rs121965014, rs61732609, rs121965015, rs121965016, rs121965017, rs1555691399, rs1555688659, rs1299251737, rs777361441, rs1601943088
Anemia Anemia, Anemia, Sickle Cell rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 23406172
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 19208208
Cyanosis CYANOSIS, TRANSIENT NEONATAL rs34474104, rs35103459, rs-1, rs587776864, rs1278163109 21561349, 2483933, 24502349, 26500940, 2470017, 7741137, 19065339
Unknown
Disease name Disease term dbSNP ID References
Hemoglobinopathy toms river Hemoglobinopathy Toms River
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Kidney failure Kidney Failure, Acute 851170, 562503

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