HBG1 (hemoglobin subunit gamma 1)

2016-10-01  

Identity

HGNC
HBG1
LOCATION
11p15.4
LOCUSID
3047
ALIAS
HBG-T2,HBGA,HBGR,HSGGL1,PRO2979
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3047
MIM: 142200
HGNC: 4831
Ensembl: ENSG00000213934

Variants:

dbSNP: 3047
ClinVar: 3047
TCGA: ENSG00000213934
COSMIC: HBG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213934ENST00000330597P69891
ENSG00000213934ENST00000330597D9YZU8
ENSG00000213934ENST00000632727A0A0J9YYA3

Expression (GTEx)

0
5
10
15
20
25
30
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
206760972010KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching.129
120937442002An embryonic/fetal beta-type globin gene repressor contains a nuclear receptor TR2/TR4 heterodimer.55
197125852009Expression of miR-210 during erythroid differentiation and induction of gamma-globin gene expression.36
183470532008Silencing of Agamma-globin gene expression during adult definitive erythropoiesis mediated by GATA-1-FOG-1-Mi2 complex binding at the -566 GATA site.35
123935832002Short-chain fatty acid derivatives induce fetal globin expression and erythropoiesis in vivo.31
123934992003Induction of fetal hemoglobin expression by the histone deacetylase inhibitor apicidin.27
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
158314512005Adult stage gamma-globin silencing is mediated by a promoter direct repeat element.22
168496482006Short-chain fatty acids induce gamma-globin gene expression by displacement of a HDAC3-NCoR repressor complex.22

Citation

Dessen P

HBG1 (hemoglobin subunit gamma 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56256/hbg1