SIX5 (SIX homeobox 5)

2016-10-01  

Identity

HGNC
SIX5
LOCATION
19q13.32
LOCUSID
147912
ALIAS
BOR2,DMAHP

Other Information

Locus ID:

NCBI: 147912
MIM: 600963
HGNC: 10891
Ensembl: ENSG00000177045

Variants:

dbSNP: 147912
ClinVar: 147912
TCGA: ENSG00000177045
COSMIC: SIX5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177045ENST00000317578Q8N196
ENSG00000177045ENST00000560160H0YLK1
ENSG00000177045ENST00000560168H0YLF6
ENSG00000177045ENST00000622857A0A087WXX3

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
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
173570852007Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.53
212801472011Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.21
278211762016The expression profile and clinic significance of the SIX family in non-small cell lung cancer.21
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
247307012014Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan.8
224472522012Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.5
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.3

Citation

Dessen P

SIX5 (SIX homeobox 5)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56442/six5