Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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 name Gene Name - the full gene name approved by the HGNC.	Hemoglobin subunit gamma 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HBG2
Synonyms (NCBI Gene) Gene synonyms aliases	HBG-T1, TNCY
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

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
rs63750654	A>G	Pathogenic	Upstream transcript variant
rs587776864	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1278163109	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs1554922455	->CAGAGG	Likely-pathogenic	Coding sequence variant, inframe insertion

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
GO:0005833	Component	Hemoglobin complex	IBA
GO:0005833	Component	Hemoglobin complex	IEA
GO:0005833	Component	Hemoglobin complex	IPI	881729, 6683087
GO:0015670	Process	Carbon dioxide transport	NAS	881729, 7543751
GO:0015671	Process	Oxygen transport	IBA
GO:0015671	Process	Oxygen transport	IDA	7543751, 19065339
GO:0015671	Process	Oxygen transport	IEA
GO:0015671	Process	Oxygen transport	NAS	881729
GO:0019825	Function	Oxygen binding	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IEA
GO:0031721	Function	Hemoglobin alpha binding	IBA
GO:0031838	Component	Haptoglobin-hemoglobin complex	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048821	Process	Erythrocyte development	IBA
GO:0072562	Component	Blood microparticle	HDA	22516433

MIM	HGNC	e!Ensembl
142250	4832	ENSG00000196565

Protein

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 , 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

MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPK
VKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFG
KEFTPEVQASWQKMVTGVASALSSRYH

Sequence length

147

Interactions

View interactions

	Reactome
			Factors involved in megakaryocyte development and platelet production

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cyanosis	cyanosis, transient neonatal	rs34474104, rs35103459, rs587776864, rs1278163109	N/A

Disease merge term	Disease name	Evidence	References	Source
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.
Cutaneous mastocytosis	Cutaneous mastocytosis	N/A	N/A	GWAS
Hemoglobinopathy Toms River	hemoglobinopathy Toms River	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
Mastocytosis	Mastocytosis	N/A	N/A	GWAS

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Glycogen Storage Disease 0 Muscle	Associate	26771086
Hemoglobin C Disease	Associate	33091040
Hemoglobinopathies	Associate	32576837
Immunologic Deficiency Syndromes	Associate	35269949
NADH cytochrome B5 reductase deficiency	Associate	7350931
Pre Eclampsia	Stimulate	24296084
Scurvy	Associate	22885163
Seizures	Associate	40140352
Spinocerebellar Ataxia 11	Associate	25084696
Thalassemia	Associate	34690349, 40140352

HBG2 (hemoglobin subunit gamma 2)