HESX1 (HESX homeobox 1)

2007-04-01  

Identity

HGNC
HESX1
LOCATION
3p14.3
LOCUSID
8820
ALIAS
ANF,CPHD5,RPX
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8820
MIM: 601802
HGNC: 4877
Ensembl: ENSG00000163666

Variants:

dbSNP: 8820
ClinVar: 8820
TCGA: ENSG00000163666
COSMIC: HESX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163666ENST00000295934Q9UBX0
ENSG00000163666ENST00000295934A0A024R364
ENSG00000163666ENST00000473921C9J0A9
ENSG00000163666ENST00000495160J3KR67
ENSG00000163666ENST00000647958Q9UBX0
ENSG00000163666ENST00000647958A0A024R364

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550

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
171485602007HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.24
171485602007HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.24
187281602008A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.23
125198272003Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.21
175871792007Genetics of septo-optic dysplasia.21
212701122011Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.18
145574622003Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia.16
169404532006Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.16
201817232010Corepressors TLE1 and TLE3 interact with HESX1 and PROP1.13
205347632010Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.12

Citation

Dessen P

HESX1 (HESX homeobox 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47304/hesx1