NCSTN (nicastrin)

2007-04-01 Affiliation

Identity

HGNC

NCSTN

LOCATION

1q23.2

LOCUSID

23385

ALIAS

ATAG1874

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 23385
MIM: 605254
HGNC: 17091
Ensembl: ENSG00000162736

Variants:

dbSNP: 23385
ClinVar: 23385
TCGA: ENSG00000162736
COSMIC: NCSTN

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000162736	ENST00000294785	Q92542
ENSG00000162736	ENST00000368063	A0A2U3TZL9
ENSG00000162736	ENST00000421914	Q5T209
ENSG00000162736	ENST00000424645	H0Y3Z4
ENSG00000162736	ENST00000424754	Q5T205
ENSG00000162736	ENST00000435149	H0Y6T7
ENSG00000162736	ENST00000437169	Q5T211
ENSG00000162736	ENST00000438008	Q5T210
ENSG00000162736	ENST00000459963	A0A2R8YCK1
ENSG00000162736	ENST00000467837	A0A2R8YE20

Expression (GTEx)

100

150

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

Pathway	Source	External ID
Notch signaling pathway	KEGG	ko04330
Alzheimer's disease	KEGG	ko05010
Notch signaling pathway	KEGG	hsa04330
Alzheimer's disease	KEGG	hsa05010
Notch signaling	KEGG	hsa_M00682
Notch signaling	KEGG	M00682
Disease	REACTOME	R-HSA-1643685
Diseases of signal transduction	REACTOME	R-HSA-5663202
Signaling by NOTCH1 in Cancer	REACTOME	R-HSA-2644603
Signaling by NOTCH1 PEST Domain Mutants in Cancer	REACTOME	R-HSA-2644602
Constitutive Signaling by NOTCH1 PEST Domain Mutants	REACTOME	R-HSA-2644606
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	REACTOME	R-HSA-2894858
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	REACTOME	R-HSA-2894862
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Signal Transduction	REACTOME	R-HSA-162582
Signalling by NGF	REACTOME	R-HSA-166520
p75 NTR receptor-mediated signalling	REACTOME	R-HSA-193704
Cell death signalling via NRAGE, NRIF and NADE	REACTOME	R-HSA-204998
NRIF signals cell death from the nucleus	REACTOME	R-HSA-205043
Regulated proteolysis of p75NTR	REACTOME	R-HSA-193692
Signaling by ERBB4	REACTOME	R-HSA-1236394
Nuclear signaling by ERBB4	REACTOME	R-HSA-1251985
Signaling by NOTCH	REACTOME	R-HSA-157118
Signaling by NOTCH1	REACTOME	R-HSA-1980143
Activated NOTCH1 Transmits Signal to the Nucleus	REACTOME	R-HSA-2122948
Signaling by NOTCH2	REACTOME	R-HSA-1980145
NOTCH2 Activation and Transmission of Signal to the Nucleus	REACTOME	R-HSA-2979096
Signaling by NOTCH3	REACTOME	R-HSA-1980148
Signaling by NOTCH4	REACTOME	R-HSA-1980150
Extracellular matrix organization	REACTOME	R-HSA-1474244
Degradation of the extracellular matrix	REACTOME	R-HSA-1474228
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
EPH-Ephrin signaling	REACTOME	R-HSA-2682334
EPH-ephrin mediated repulsion of cells	REACTOME	R-HSA-3928665
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37490873	2024	Discovery and Potential Functional Characterization of Long Noncoding RNAs Associated with Familial Acne Inversa with NCSTN Mutation.	1
37490873	2024	Discovery and Potential Functional Characterization of Long Noncoding RNAs Associated with Familial Acne Inversa with NCSTN Mutation.	1
37665193	2023	A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.	1
37665193	2023	A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.	1
34860362	2022	A novel mutation of the NCSTN gene in a Chinese hidradenitis suppurativa family with familial comedones as the main clinical manifestation.	2
35016821	2022	Evolutionary distinct roles of γ-secretase subunit nicastrin in zebrafish and humans.	1
34860362	2022	A novel mutation of the NCSTN gene in a Chinese hidradenitis suppurativa family with familial comedones as the main clinical manifestation.	2
35016821	2022	Evolutionary distinct roles of γ-secretase subunit nicastrin in zebrafish and humans.	1
33460495	2021	Genetic variations in gamma-secretase and PSTPIP1 in hidradenitis suppurativa in Singaporean Chinese.	0
33460495	2021	Genetic variations in gamma-secretase and PSTPIP1 in hidradenitis suppurativa in Singaporean Chinese.	0
32631394	2020	NCSTN promotes hepatocellular carcinoma cell growth and metastasis via β-catenin activation in a Notch1/AKT dependent manner.	14
32940366	2020	Two novel nicastrin mutations in Chinese families with acne inversa.	2
32631394	2020	NCSTN promotes hepatocellular carcinoma cell growth and metastasis via β-catenin activation in a Notch1/AKT dependent manner.	14
32940366	2020	Two novel nicastrin mutations in Chinese families with acne inversa.	2
30120935	2019	Nicastrin/miR-30a-3p/RAB31 Axis Regulates Keratinocyte Differentiation by Impairing EGFR Signaling in Familial Acne Inversa.	16

Citation

Dessen P

NCSTN (nicastrin)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46883/ncstn-(nicastrin)