SIX6 (SIX homeobox 6)

2016-10-01 Affiliation

Identity

HGNC

SIX6

LOCATION

14q23.1

LOCUSID

4990

ALIAS

MCOPCT2,ODRMD,OPTX2,Six9

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000184302	ENST00000327720	O95475

Expression (GTEx)

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 ID	Year	Title	Citations
24875647	2014	Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.	31
24150847	2014	Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.	27
27821176	2016	The expression profile and clinic significance of the SIX family in non-small cell lung cancer.	21
18293925	2008	DNA-binding and regulation mechanisms of the SIX family of retinal determination proteins.	17
26365380	2015	P16INK4a Upregulation Mediated by SIX6 Defines Retinal Ganglion Cell Pathogenesis in Glaucoma.	15
26687066	2015	The Six1 oncoprotein downregulates p53 via concomitant regulation of RPL26 and microRNA-27a-3p.	15
28792678	2017	Modeling Glaucoma: Retinal Ganglion Cells Generated from Induced Pluripotent Stem Cells of Patients with SIX6 Risk Allele Show Developmental Abnormalities.	13
15505031	2004	Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.	12
15505031	2004	Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.	12
25537207	2014	Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study.	12

Citation

Dessen P

SIX6 (SIX homeobox 6)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56130/six6