HEG1 (heart development protein with EGF like domains 1)

2018-12-01  

Identity

HGNC
HEG1
LOCATION
3q21.2
LOCUSID
57493
ALIAS
HEG,MST112,MSTP112
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57493
MIM: 614182
HGNC: 29227
Ensembl: ENSG00000173706

Variants:

dbSNP: 57493
ClinVar: 57493
TCGA: ENSG00000173706
COSMIC: HEG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173706ENST00000311127Q9ULI3
ENSG00000173706ENST00000477536A0A2R8Y4Z1
ENSG00000173706ENST00000482699H7C4K2
ENSG00000173706ENST00000487661H7C4M4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

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
146806292003heart of glass regulates the concentric growth of the heart in zebrafish.115
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
238140562013The structure of the ternary complex of Krev interaction trapped 1 (KRIT1) bound to both the Rap1 GTPase and the heart of glass (HEG1) cytoplasmic tail.14
267808292016Heart of glass anchors Rasip1 at endothelial cell-cell junctions to support vascular integrity.11
283619692017HEG1 is a novel mucin-like membrane protein that serves as a diagnostic and therapeutic target for malignant mesothelioma.10
246434102014Cerebral cavernous malformations arise independent of the heart of glass receptor.5
312781312019HEG1 indicates poor prognosis and promotes hepatocellular carcinoma invasion, metastasis, and EMT by activating Wnt/β-catenin signaling.2
302500452018Identification of mesothelioma-specific sialylated epitope recognized with monoclonal antibody SKM9-2 in a mucin-like membrane protein HEG1.1

Citation

Dessen P

HEG1 (heart development protein with EGF like domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-12-01

Online version: http://atlasgeneticsoncology.org/gene/57772/heg1