ANKS3 (ankyrin repeat and sterile alpha motif domain containing 3)

2014-11-01  

Identity

HGNC
ANKS3
LOCATION
16p13.3
LOCUSID
124401
ALIAS
-

Other Information

Locus ID:

NCBI: 124401
MIM: 617310
HGNC: 29422
Ensembl: ENSG00000168096

Variants:

dbSNP: 124401
ClinVar: 124401
TCGA: ENSG00000168096
COSMIC: ANKS3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168096ENST00000304283Q6ZW76
ENSG00000168096ENST00000446014D3DUE4
ENSG00000168096ENST00000450067F6WF08
ENSG00000168096ENST00000585773Q6ZW76
ENSG00000168096ENST00000586159K7EPP4
ENSG00000168096ENST00000586166K7EJY2
ENSG00000168096ENST00000586605K7ERF3
ENSG00000168096ENST00000587005K7EJX3
ENSG00000168096ENST00000588513K7EPL7
ENSG00000168096ENST00000589065K7EM53
ENSG00000168096ENST00000590147K7ERR7
ENSG00000168096ENST00000590193K7EPY5
ENSG00000168096ENST00000590730K7ELP3
ENSG00000168096ENST00000591281K7EPP4
ENSG00000168096ENST00000592068K7EJS9
ENSG00000168096ENST00000592077K7EPP4
ENSG00000168096ENST00000592190K7EKD2
ENSG00000168096ENST00000592421K7ELU8
ENSG00000168096ENST00000592698K7EQE0
ENSG00000168096ENST00000592711K7ERY3
ENSG00000168096ENST00000614075Q6ZW76

Expression (GTEx)

0
5
10
15
20
25
30
35
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
249982592014Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3.13
274174362016ANKS3 is mutated in a family with autosomal recessive laterality defect.5

Citation

Dessen P

ANKS3 (ankyrin repeat and sterile alpha motif domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60370/anks3