KAZN (kazrin, periplakin interacting protein)

2014-11-01  

Identity

HGNC
KAZN
LOCATION
1p36.21
LOCUSID
23254
ALIAS
C1orf196,KAZ
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23254
MIM: 618301
HGNC: 29173
Ensembl: ENSG00000189337

Variants:

dbSNP: 23254
ClinVar: 23254
TCGA: ENSG00000189337
COSMIC: KAZN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000189337ENST00000361144Q674X7
ENSG00000189337ENST00000376028B0QYQ6
ENSG00000189337ENST00000376030Q674X7
ENSG00000189337ENST00000400797Q674X7
ENSG00000189337ENST00000400798Q674X7
ENSG00000189337ENST00000503743Q674X7
ENSG00000189337ENST00000636203A0A1B0GWK2
ENSG00000189337ENST00000636564A0A1B0GTU0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567
Formation of the cornified envelopeREACTOMER-HSA-6809371

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
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
153377752004Kazrin, a novel periplakin-interacting protein associated with desmosomes and the keratinocyte plasma membrane.20
188406472008Kazrin regulates keratinocyte cytoskeletal networks, intercellular junctions and differentiation.17
198435852009KazrinE is a desmosome-associated liprin that colocalises with acetylated microtubules.13
197275252009Kazrin F is involved in apoptosis and interacts with BAX and ARC.5
225137792012Exons 5-15 of kazrin are dispensable for murine epidermal morphogenesis and homeostasis.2

Citation

Dessen P

KAZN (kazrin, periplakin interacting protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64747/kazn-(kazrin-periplakin-interacting-protein)