KANK4 (KN motif and ankyrin repeat domains 4)

2014-11-01  

Identity

HGNC
KANK4
LOCATION
1p31.3
LOCUSID
163782
ALIAS
ANKRD38,dJ1078M7.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 163782
MIM: 614612
HGNC: 27263
Ensembl: ENSG00000132854

Variants:

dbSNP: 163782
ClinVar: 163782
TCGA: ENSG00000132854
COSMIC: KANK4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132854ENST00000317477B1ALP5
ENSG00000132854ENST00000354381Q5T7N3
ENSG00000132854ENST00000371150B1ALP6
ENSG00000132854ENST00000371153Q5T7N3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
N/A

References

Pubmed IDYearTitleCitations
259614572015KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.68
299131992019Genome-wide profiling of adult human papillary and reticular fibroblasts identifies ACAN, Col XI α1, and PSG1 as general biomarkers of dermis ageing, and KANK4 as an exemplary effector of papillary fibroblast ageing, related to contractility.2

Citation

Dessen P

KANK4 (KN motif and ankyrin repeat domains 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64736/kank4