HBG2 (hemoglobin subunit gamma 2)

2014-11-01  

Identity

HGNC
HBG2
LOCATION
11p15.4
LOCUSID
3048
ALIAS
HBG-T1,TNCY
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3048
MIM: 142250
HGNC: 4832
Ensembl: ENSG00000196565

Variants:

dbSNP: 3048
ClinVar: 3048
TCGA: ENSG00000196565
COSMIC: HBG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196565ENST00000336906P69892
ENSG00000196565ENST00000336906D9YZU9
ENSG00000196565ENST00000380252E9PBW4
ENSG00000196565ENST00000444587A0A0J9YYA3

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
186676982008DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.175
184673292008Pathway for heme uptake from human methemoglobin by the iron-regulated surface determinants system of Staphylococcus aureus.56
204394942010Role of the GATA-1/FOG-1/NuRD pathway in the expression of human beta-like globin genes.23
296104782018Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding.23
111322332000Genetic factors affecting clinical severity in beta-thalassemia syndromes.20
157982112005Strong polyadenylation and weak pausing combine to cause efficient termination of transcription in the human Ggamma-globin gene.20
206889552010Fetal globin expression is regulated by Friend of Prmt1.20
232843072012Mi2β is required for γ-globin gene silencing: temporal assembly of a GATA-1-FOG-1-Mi2 repressor complex in β-YAC transgenic mice.20
216099632011The distinctive roles of erythroid specific activator GATA-1 and NF-E2 in transcription of the human fetal γ-globin genes.16
182662082008Variation and heritability of Hb F and F-cells among beta-thalassemia heterozygotes in Hong Kong.15

Citation

Dessen P

HBG2 (hemoglobin subunit gamma 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64186/hbg2