ANKS6 (ankyrin repeat and sterile alpha motif domain containing 6)

2014-11-01  

Identity

HGNC
ANKS6
LOCATION
9q22.33
LOCUSID
203286
ALIAS
ANKRD14,NPHP16,PKDR1,SAMD6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 203286
MIM: 615370
HGNC: 26724
Ensembl: ENSG00000165138

Variants:

dbSNP: 203286
ClinVar: 203286
TCGA: ENSG00000165138
COSMIC: ANKS6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165138ENST00000353234Q68DC2
ENSG00000165138ENST00000375019A0A0A0MRS7
ENSG00000165138ENST00000444472H7C163

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
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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
237930292013ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.71
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.21
249982592014Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3.13
246109272014Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.11
184342732008Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat.1

Citation

Dessen P

ANKS6 (ankyrin repeat and sterile alpha motif domain containing 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60372/anks6-(ankyrin-repeat-and-sterile-alpha-motif-domain-containing-6)