SIX6 (SIX homeobox 6)

2016-10-01  

Identity

HGNC
SIX6
LOCATION
14q23.1
LOCUSID
4990
ALIAS
MCOPCT2,ODRMD,OPTX2,Six9

Other Information

Locus ID:

NCBI: 4990
MIM: 606326
HGNC: 10892
Ensembl: ENSG00000184302

Variants:

dbSNP: 4990
ClinVar: 4990
TCGA: ENSG00000184302
COSMIC: SIX6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184302ENST00000327720O95475

Expression (GTEx)

0
10
20
30
40
50
60
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
retina
thyroid gland
parathyroid gland
adrenal gland
pituitary 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
350171592023Association of SIX1-SIX6 polymorphisms with peripapillary retinal nerve fibre layer thickness in children.0
350171592023Association of SIX1-SIX6 polymorphisms with peripapillary retinal nerve fibre layer thickness in children.0
356580882022Association of Polymorphisms at the SIX1/SIX6 Locus With Normal Tension Glaucoma in a Korean Population.2
356934202022Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.1
357907322022Mutually exclusive epigenetic modification on SIX6 with hypermethylation for precancerous stage and metastasis emergence tracing.3
365960202022Lack of association between SIX1/SIX6 locus polymorphisms and pseudoexfoliation syndrome in a population from the Republic of Korea.0
356580882022Association of Polymorphisms at the SIX1/SIX6 Locus With Normal Tension Glaucoma in a Korean Population.2
356934202022Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.1
357907322022Mutually exclusive epigenetic modification on SIX6 with hypermethylation for precancerous stage and metastasis emergence tracing.3
365960202022Lack of association between SIX1/SIX6 locus polymorphisms and pseudoexfoliation syndrome in a population from the Republic of Korea.0
331089332021SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family.1
331089332021SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family.1
327194762020Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism.0
328355482020SIX6 is a TAL1-regulated transcription factor in T-ALL and associated with inferior outcome.4
327194762020Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism.0

Citation

Dessen P

SIX6 (SIX homeobox 6)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56130/six6-(six-homeobox-6)