KANK2 (KN motif and ankyrin repeat domains 2)

2016-10-01  

Identity

HGNC
KANK2
LOCATION
19p13.2
LOCUSID
25959
ALIAS
ANKRD25,MXRA3,NPHS16,PPKWH,SIP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25959
MIM: 614610
HGNC: 29300
Ensembl: ENSG00000197256

Variants:

dbSNP: 25959
ClinVar: 25959
TCGA: ENSG00000197256
COSMIC: KANK2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197256ENST00000586659Q63ZY3
ENSG00000197256ENST00000588724K7EL48
ENSG00000197256ENST00000588787K7EIU4
ENSG00000197256ENST00000589359Q63ZY3
ENSG00000197256ENST00000589894Q63ZY3
ENSG00000197256ENST00000590685K7ES05
ENSG00000197256ENST00000592675K7ERU2

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
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
259614572015KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.68
174763052007SIP, a novel ankyrin repeat containing protein, sequesters steroid receptor coactivators in the cytoplasm.18
311140722019A mechano-signalling network linking microtubules, myosin IIA filaments and integrin-based adhesions.14
246710812014Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair.8
267393302016Association of liprin β-1 with kank proteins in melanoma.4

Citation

Dessen P

KANK2 (KN motif and ankyrin repeat domains 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56149/kank2