Aliases for NCSTN Gene
External Ids for NCSTN Gene
- HGNC: 17091
- Entrez Gene: 23385
- Ensembl: ENSG00000162736
- OMIM: 605254
- UniProtKB: Q92542
Previous GeneCards Identifiers for NCSTN Gene
- GC01P158105
- GC01P156045
- GC01P157090
- GC01P157529
- GC01P157126
- GC01P158579
- GC01P160313
- GC01P131669
Summaries for NCSTN Gene
-
This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014]
GeneCards Summary for NCSTN Gene
NCSTN (Nicastrin) is a Protein Coding gene. Diseases associated with NCSTN include Acne Inversa, Familial, 1 and Hidradenitis Suppurativa. Among its related pathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Notch signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include peptidase activity and endopeptidase activity.
UniProtKB/Swiss-Prot for NCSTN Gene
-
Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:10993067, PubMed:12679784, PubMed:25043039, PubMed:26280335). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels.
Additional gene information for NCSTN Gene
- Monarch Initiative
- Search for NCSTN at DataMed
- Search for NCSTN at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NCSTN Gene
Genomics for NCSTN Gene
GeneHancer (GH) Regulatory Elements for NCSTN Gene
Promoters and enhancers for NCSTN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around NCSTN on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the NCSTN gene promoter:
-
- Evi-1
- Pax-4a
- Brachyury
- POU2F1a
- POU2F1
- LCR-F1
- RSRFC4
- TGIF
Regulatory Element Products
Genomic Locations for NCSTN Gene
Genomic Locations for NCSTN Gene
- chr1:160,343,272-160,358,952
- (GRCh38/hg38)
- Size:
- 15,681 bases
- Orientation:
- Plus strand
- chr1:160,313,062-160,328,742
- (GRCh37/hg19)
- Size:
- 15,681 bases
- Orientation:
- Plus strand
Genomic View for NCSTN Gene
Genes around NCSTN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q23.2 by Entrez Gene
- 1q23.2 by HGNC
- 1q23.2 by Ensembl
NCSTN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NCSTN Gene
Proteins for NCSTN Gene
-
Protein details for NCSTN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q92542-NICA_HUMAN
- Recommended name:
- Nicastrin
- Protein Accession:
- Q92542
- Q5T207
- Q5T208
- Q86VV5
Protein attributes for NCSTN Gene
- Size:
- 709 amino acids
- Molecular mass:
- 78411 Da
- Quaternary structure:
-
- Component of the gamma-secretase complex (PubMed:10993067). The functional gamma-secretase complex is composed of at least four polypeptides: a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2 (PubMed:12740439, PubMed:25043039, PubMed:26623517, PubMed:26280335, PubMed:25918421). Binds to proteolytic processed C-terminal fragments C83 and C99 of the amyloid precursor protein (APP) (PubMed:10993067). Interacts with PSEN1 and PSEN2 (PubMed:10993067).
Three dimensional structures from OCA and Proteopedia for NCSTN Gene
Protein Expression for NCSTN Gene
Post-translational modifications for NCSTN Gene
- N-glycosylated.
- Ubiquitination at Lys403 and Lys351
- Modification sites at PhosphoSitePlus
Other Protein References for NCSTN Gene
Antibody Products
- R&D Systems Antibodies for NCSTN (Nicastrin)
-
Custom Antibody ServicesOriGene Antibodies for NCSTN
- Novus Biologicals Antibodies for NCSTN
-
Abcam antibodies for NCSTN
- Invitrogen Antibodies for NCSTN (AFLGC-NCSTN)
- antibodies-online: Search results for 125 available Nicastrin Antibodies ranked by validation data
- Compare Top Nicastrin Antibodies
-
Recommended
- 93 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 FACS Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 53 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 39 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- GeneTex NCSTN Antibody for NCSTN
-
Boster Bio Antibodies for NCSTN
-
Custom Antibody ServicesProSci Antibodies for NCSTN
-
Santa Cruz Biotechnology (SCBT) Antibodies for NCSTN
- Sino Biological Antibodies for NCSTN
Protein Products
-
OriGene Purified Proteins for NCSTN
- Search Origene for MassSpec and Protein Over-expression Lysates for NCSTN
- Origene Custom Protein Services for NCSTN
- Sino Biological Recombinant Proteins for NCSTN
- Sino Biological Cell Lysates for NCSTN
- Search GeneTex for Proteins for NCSTN
-
Abcam proteins for NCSTN
Assay Products
No data available for DME Specific Peptides for NCSTN Gene
Domains & Families for NCSTN Gene
Gene Families for NCSTN Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
- Predicted secreted proteins
Suggested Antigen Peptide Sequences for NCSTN Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q92542- Family:
-
- Belongs to the nicastrin family.
Function for NCSTN Gene
Molecular function for NCSTN Gene
- UniProtKB/Swiss-Prot Function:
- Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:10993067, PubMed:12679784, PubMed:25043039, PubMed:26280335). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels.
- UniProtKB/Swiss-Prot Induction:
- Constitutively expressed in neural cells.
Phenotypes From GWAS Catalog for NCSTN Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004175 | endopeptidase activity | IBA | -- |
| GO:0005515 | protein binding | IPI | 12297508 |
| GO:0008233 | peptidase activity | IEA | -- |
Phenotypes for NCSTN Gene
- MGI mutant phenotypes for NCSTN:
-
inferred from 7 alleles
- cardiovascular system phenotype
- vision/eye phenotype
- nervous system phenotype
- behavior/neurological phenotype
- neoplasm
- integument phenotype
- mortality/aging
- cellular phenotype
- craniofacial phenotype
- embryo phenotype
- normal phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for NCSTN:
-
- Increased G1 DNA content
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased viability with paclitaxel
- Decreased NF-kappaB reporter expression
- Increased cell number in S
- Increased viability
- Increased transferrin (TF) endocytosis
Animal Models for NCSTN Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for NCSTN
- Cyagen custom Knockout/knockin (KOKI) mouse models for NCSTN
-
CRISPR Products
-
OriGene CRISPR knockouts for NCSTN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NCSTN
- genomics-online: gRNA clones - Search results for 135 available Nicastrin gene related products
- Overview of 135 available Nicastrin gene related products
- Applied Biological Materials CRISPR for NCSTN
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NCSTN
- GenScript: Design CRISPR guide RNA sequences for NCSTN
miRNA for NCSTN Gene
- miRTarBase miRNAs that target NCSTN
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NCSTN
- Browse OriGene Inhibitory RNA Products For NCSTN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCSTN
- genomics-online: shRNA clones - Search results for 135 available Nicastrin gene related products
- Overview of 135 available Nicastrin gene related products
Clone Products
- Sino Biological Human cDNA Clone for NCSTN
- Addgene plasmids for NCSTN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NCSTN
- Applied Biological Materials Clones for NCSTN
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for NCSTN
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NCSTN Gene
Localization for NCSTN Gene
Subcellular locations from UniProtKB/Swiss-Prot for NCSTN Gene
- Membrane; Single-pass type I membrane protein. Cytoplasmic vesicle membrane; Single-pass type I membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| lysosome | 5 |
| golgi apparatus | 5 |
| cytoskeleton | 3 |
| mitochondrion | 1 |
| peroxisome | 1 |
| cytosol | 1 |
| endosome | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005765 | lysosomal membrane | HDA | 17897319 |
| GO:0005783 | endoplasmic reticulum | IDA,ISS | -- |
| GO:0005794 | Golgi apparatus | IDA,ISS | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | ISS,IDA | -- |
Pathways & Interactions for NCSTN Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by NOTCH1 | ||
| 2 | Notch signaling pathway (KEGG) |
.30
|
|
| 3 | p75 NTR receptor-mediated signalling | ||
| 4 | NOTCH2 Activation and Transmission of Signal to the Nucleus | ||
| 5 | Innate Immune System |
.61
|
|
Pathways by source for NCSTN Gene
7 BioSystems pathways for NCSTN Gene
31 Reactome pathways for NCSTN Gene
2 KEGG pathways for NCSTN Gene
3 GeneGo (Thomson Reuters) pathways for NCSTN Gene
3 R&D Systems pathways for NCSTN Gene
4 Qiagen pathways for NCSTN Gene
2 Cell Signaling Technology pathways for NCSTN Gene
Interacting Proteins for NCSTN Gene
Selected Interacting proteins:
Q92542-NICA_HUMAN
ENSP00000294785
for NCSTN Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for NCSTN
SIGNOR curated interactions for NCSTN Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002262 | myeloid cell homeostasis | IEA | -- |
| GO:0006508 | proteolysis | NAS | 10993067 |
| GO:0006509 | membrane protein ectodomain proteolysis | ISS,IDA | -- |
| GO:0007219 | Notch signaling pathway | TAS | -- |
| GO:0007220 | Notch receptor processing | TAS | 15274632 |
Drugs & Compounds for NCSTN Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for NCSTN Gene
mRNA/cDNA for NCSTN Gene
- (5) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (514) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000294785 2936 bps (uc001fvx.4)
- ENST00000368063 3031 bps (uc001fvy.4)
- ENST00000437169 448 bps (uc057mki.1)
- ENST00000421914 776 bps (uc057mkj.1)
- ENST00000465223 545 bps (uc057mkk.1)
Unigene Clusters for NCSTN Gene
- Nicastrin:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for NCSTN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NCSTN
- genomics-online: gRNA clones - Search results for 135 available Nicastrin gene related products
- Overview of 135 available Nicastrin gene related products
- Applied Biological Materials CRISPR for NCSTN
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NCSTN
- GenScript: Design CRISPR guide RNA sequences for NCSTN
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NCSTN
- Browse OriGene Inhibitory RNA Products For NCSTN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCSTN
- genomics-online: shRNA clones - Search results for 135 available Nicastrin gene related products
- Overview of 135 available Nicastrin gene related products
Clone Products
- Sino Biological Human cDNA Clone for NCSTN
- Addgene plasmids for NCSTN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NCSTN
- Applied Biological Materials Clones for NCSTN
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: |
| ExUns: | 17a | · | 17b | · | 17c | ^ | 18a | · | 18b | ^ | 19 | ^ | 20a | · | 20b | · | 20c | ^ | 21a | · | 21b | · | 21c | ^ | 22a | · | 22b | · | 22c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | ||||||||||||||||||||||||
| SP10: | - | - | |||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||
| SP14: | - | ||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||
| SP16: |
Expression for NCSTN Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Gonad (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Testis (Reproductive System)
- Testis Somatic Cells Primitive Gonad
- Intestine (Gastrointestinal Tract)
-
Colon (Gastrointestinal Tract)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Ovary (Reproductive System)
This gene is overexpressed in Nasal epithelium (40.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NCSTN Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of NCSTN Gene:
NCSTNSOURCE GeneReport for Unigene cluster for NCSTN Gene:
Hs.517249mRNA Expression by UniProt/SwissProt for NCSTN Gene:
Q92542-NICA_HUMAN
Tissue specificity:
Detected in brain (at protein level) (PubMed:10993067). Widely expressed (PubMed:11396676).
Evidence on tissue expression from TISSUES for NCSTN Gene
- Nervous system(4.6)
- Bone marrow(4.3)
- Liver(4.3)
- Lung(3.4)
- Skin(2.2)
- Kidney(2)
- Pancreas(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NCSTN Gene
Germ Layers:
- ectoderm
Systems:
- integumentary
Regions:
General:
- skin
Primer Products
-
OriGene qPCR primer pairs for NCSTN
-
OriGene qPCR primer pairs and template standards for NCSTN
- genomics-online: primer clones - Search results for 135 available Nicastrin gene related products
- Overview of 135 available Nicastrin gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for NCSTN Gene
Orthologs for NCSTN Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NCSTN 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | NCSTN 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ncstn 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ncstn 33 |
|
||
| dog (Canis familiaris) |
Mammalia | NCSTN 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | NCSTN 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | NCSTN 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NCSTN 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | NCSTN 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ncstn 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.19808 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ncstn 33 |
|
||
| CABZ01052486.1 34 |
|
OneToOne | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001734 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | nct 34 35 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | aph-2 34 33 |
|
OneToOne | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT3G52640 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0736500 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for NCSTN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for NCSTN Gene
- ENSEMBL:
- Gene Tree for NCSTN (if available)
- TreeFam:
- Gene Tree for NCSTN (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NCSTN: view image
Paralogs for NCSTN Gene
No data available for Paralogs for NCSTN Gene
Variants for NCSTN Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1085307081 | pathogenic, Familial acne inversa 1 | 160,354,238(+) | C/T | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, stop_gained | |
| rs387906896 | pathogenic, Familial acne inversa 1 | 160,349,583(+) | C/T | coding_sequence_variant, stop_gained | |
| VAR_067756 | Acne inversa, familial, 1 (ACNINV1) [MIM:142690] | p.Pro211Arg | |||
| rs12239747 | benign, not specified | 160,351,275(+) | A/G/T | coding_sequence_variant, intron_variant, synonymous_variant | |
| rs1000113597 | -- | 160,348,757(+) | T/A | intron_variant |
Residual Variation Intolerance Score:
6.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.57;
44.71% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NCSTN Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NCSTN Gene
Disorders for NCSTN Gene
(7) MalaCards diseases for NCSTN Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| acne inversa, familial, 1 |
|
|
| hidradenitis suppurativa |
|
|
| hidradenitis |
|
|
| sweat gland disease |
|
|
| anal canal squamous cell carcinoma |
|
|
Search NCSTN in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NICA_HUMAN- Acne inversa, familial, 1 (ACNINV1) [MIM:142690]: A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. {ECO:0000269 PubMed:20929727, ECO:0000269 PubMed:21430701, ECO:0000269 PubMed:21495993}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for NCSTN
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for NCSTN Gene
Publications for NCSTN Gene
- Association between promoter polymorphisms of the nicastrin gene and sporadic Alzheimer's disease in North Chinese Han population. (PMID: 19394408) Ma Z … Jia J (Neuroscience letters 2009) 3 22 44 58
- Analysis of the nicastrin promoter rs10752637 polymorphism and its association with Alzheimer's disease. (PMID: 19840113) Zhong L … Qing-feng L (The European journal of neuroscience 2009) 3 22 44 58
- Genetic study of Sardinian patients with Alzheimer's disease. (PMID: 16423463) Piscopo P … Confaloni A (Neuroscience letters 2006) 3 22 44 58
- Nicastrin gene polymorphisms, cognitive ability level and cognitive ageing. (PMID: 15567563) Deary IJ … Lovestone S (Neuroscience letters 2005) 3 22 44 58
- Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene. (PMID: 15157994) Orlacchio A … Bernardi G (Neuroscience letters 2004) 3 22 44 58
Products for NCSTN Gene
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- antibodies-online: Search results for 4 available Nicastrin Elisa Kits ranked by validation data
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