This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate... See more...

Aliases for NISCH Gene

Aliases for NISCH Gene

  • Nischarin 2 3 4 5
  • I-1 Receptor Candidate Protein 2 3 4
  • IRAS 2 3 4
  • I-1 2 3 4
  • Imidazoline Receptor Antisera Selected 2 3
  • Imidazoline Receptor 1 3 4
  • I1R Candidate Protein 3 4
  • KIAA0975 2 4
  • HIRAS 3 4
  • IR1 3 4
  • Imidazoline Receptor Antisera-Selected Protein 4
  • Imidazoline-1 Receptor Candidate Protein 4
  • Imidazoline Receptor Candidate 2
  • Imidazoline-1 Receptor 4
  • NISCH 5
  • I1R 4

External Ids for NISCH Gene

Previous GeneCards Identifiers for NISCH Gene

  • GC03P051581
  • GC03P051741
  • GC03P052345
  • GC03P052447
  • GC03P052464
  • GC03P052489

Summaries for NISCH Gene

Entrez Gene Summary for NISCH Gene

  • This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor. [provided by RefSeq, Jan 2013]

GeneCards Summary for NISCH Gene

NISCH (Nischarin) is a Protein Coding gene. Diseases associated with NISCH include Aplasia Of Lacrimal And Salivary Glands and Cholestasis, Progressive Familial Intrahepatic, 4. Among its related pathways are Cytoskeletal Signaling and EPH-Ephrin signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and phosphatidylinositol binding. An important paralog of this gene is STK11IP.

UniProtKB/Swiss-Prot Summary for NISCH Gene

  • Acts either as the functional imidazoline-1 receptor (I1R) candidate or as a membrane-associated mediator of the I1R signaling. Binds numerous imidazoline ligands that induces initiation of cell-signaling cascades triggering to cell survival, growth and migration. Its activation by the agonist rilmenidine induces an increase in phosphorylation of mitogen-activated protein kinases MAPK1 and MAPK3 in rostral ventrolateral medulla (RVLM) neurons that exhibited rilmenidine-evoked hypotension (By similarity). Blocking its activation with efaroxan abolished rilmenidine-induced mitogen-activated protein kinase phosphorylation in RVLM neurons (By similarity). Acts as a modulator of Rac-regulated signal transduction pathways (By similarity). Suppresses Rac1-stimulated cell migration by interacting with PAK1 and inhibiting its kinase activity (By similarity). Also blocks Pak-independent Rac signaling by interacting with RAC1 and inhibiting Rac1-stimulated NF-kB response element and cyclin D1 promoter activation (By similarity). Inhibits also LIMK1 kinase activity by reducing LIMK1 'Tyr-508' phosphorylation (By similarity). Inhibits Rac-induced cell migration and invasion in breast and colon epithelial cells (By similarity). Inhibits lamellipodia formation, when overexpressed (By similarity). Plays a role in protection against apoptosis. Involved in association with IRS4 in the enhancement of insulin activation of MAPK1 and MAPK3. When overexpressed, induces a redistribution of cell surface ITGA5 integrin to intracellular endosomal structures.

Gene Wiki entry for NISCH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NISCH Gene

Genomics for NISCH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NISCH 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 NISCH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NISCH

Top Transcription factor binding sites by QIAGEN in the NISCH gene promoter:
  • ATF
  • c-Myc
  • COUP
  • COUP-TF
  • Max1
  • Olf-1
  • Pax-4a
  • Sp1

Genomic Locations for NISCH Gene

Genomic Locations for NISCH Gene
chr3:52,455,118-52,493,068
(GRCh38/hg38)
Size:
37,951 bases
Orientation:
Plus strand
chr3:52,489,134-52,527,088
(GRCh37/hg19)
Size:
37,955 bases
Orientation:
Plus strand

Genomic View for NISCH Gene

Genes around NISCH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NISCH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NISCH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NISCH Gene

Proteins for NISCH Gene

  • Protein details for NISCH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2I1-NISCH_HUMAN
    Recommended name:
    Nischarin
    Protein Accession:
    Q9Y2I1
    Secondary Accessions:
    • C9J245
    • Q6PGP3
    • Q6PIB4
    • Q7L8M3
    • Q7Z2X6
    • Q9UES6
    • Q9UEU4
    • Q9UFW3

    Protein attributes for NISCH Gene

    Size:
    1504 amino acids
    Molecular mass:
    166629 Da
    Quaternary structure:
    • Homooligomer. Interacts with GRB2. Interacts with PIK3R1; probably associates with the PI3-kinase complex. Interacts with IRS4. Found in a complex with ITGA5 and PAK1. Found in a complex with LIMK1 and PAK1. Interacts with ITGA5 (via cytoplasmic domain); this interaction is direct. Interacts with PAK1 (via kinase domain); this interaction is direct and is increased upon activation of PAK1 (By similarity). Interacts with LIMK1 (via PDZ and kinase domain); this interaction is direct (By similarity). Interacts with LIMK2; this interaction depends on LIMK2 activity (By similarity). Interacts with RAC1 (activated state) (By similarity). Interacts with STK11; this interaction may increase STK11 activity.
    SequenceCaution:
    • Sequence=BAA76819.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NISCH Gene

    Alternative splice isoforms for NISCH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NISCH Gene

Post-translational modifications for NISCH Gene

  • Ubiquitination at Lys865, Lys942, Lys1009, Lys1290, Lys1299, and Lys1303
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NISCH Gene

Domains & Families for NISCH Gene

Gene Families for NISCH Gene

Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for NISCH Gene

InterPro:
Blocks:
  • Phox-like
ProtoNet:

Suggested Antigen Peptide Sequences for NISCH Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58268, highly similar to Homo sapiens nischarin (NISCH), mRNA (B4DMW1_HUMAN)
  • Imidazoline-1 receptor candidate protein (NISCH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2I1

UniProtKB/Swiss-Prot:

NISCH_HUMAN :
  • Both the presence of the PX domain and the coiled coil region are necessary for its endosomal targeting.
Domain:
  • Both the presence of the PX domain and the coiled coil region are necessary for its endosomal targeting.
genes like me logo Genes that share domains with NISCH: view

Function for NISCH Gene

Molecular function for NISCH Gene

UniProtKB/Swiss-Prot Function:
Acts either as the functional imidazoline-1 receptor (I1R) candidate or as a membrane-associated mediator of the I1R signaling. Binds numerous imidazoline ligands that induces initiation of cell-signaling cascades triggering to cell survival, growth and migration. Its activation by the agonist rilmenidine induces an increase in phosphorylation of mitogen-activated protein kinases MAPK1 and MAPK3 in rostral ventrolateral medulla (RVLM) neurons that exhibited rilmenidine-evoked hypotension (By similarity). Blocking its activation with efaroxan abolished rilmenidine-induced mitogen-activated protein kinase phosphorylation in RVLM neurons (By similarity). Acts as a modulator of Rac-regulated signal transduction pathways (By similarity). Suppresses Rac1-stimulated cell migration by interacting with PAK1 and inhibiting its kinase activity (By similarity). Also blocks Pak-independent Rac signaling by interacting with RAC1 and inhibiting Rac1-stimulated NF-kB response element and cyclin D1 promoter activation (By similarity). Inhibits also LIMK1 kinase activity by reducing LIMK1 'Tyr-508' phosphorylation (By similarity). Inhibits Rac-induced cell migration and invasion in breast and colon epithelial cells (By similarity). Inhibits lamellipodia formation, when overexpressed (By similarity). Plays a role in protection against apoptosis. Involved in association with IRS4 in the enhancement of insulin activation of MAPK1 and MAPK3. When overexpressed, induces a redistribution of cell surface ITGA5 integrin to intracellular endosomal structures.

Phenotypes From GWAS Catalog for NISCH Gene

Gene Ontology (GO) - Molecular Function for NISCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IEA --
GO:0005515 protein binding IPI 23386062
GO:0019901 protein kinase binding IBA 21873635
GO:0035091 phosphatidylinositol binding IEA --
GO:0042802 identical protein binding IPI 23386062
genes like me logo Genes that share ontologies with NISCH: view
genes like me logo Genes that share phenotypes with NISCH: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NISCH

CRISPR Products

miRNA for NISCH Gene

miRTarBase miRNAs that target NISCH

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NISCH

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NISCH Gene

Localization for NISCH Gene

Subcellular locations from UniProtKB/Swiss-Prot for NISCH Gene

Cell membrane. Cytoplasm. Early endosome. Recycling endosome. Note=Enriched in the early/sorting and recycling endosomes. Colocalized in early/sorting endosomes with EEA1 and SNX2 and in recycling endosomes with transferrin receptor. Detected in the perinuclear region partially associated with punctate structures (By similarity). Colocalizes with PAK1 in cytoplasm, vesicular structures in the perinuclear area and membrane ruffles (By similarity). Colocalizes with RAC1 in the cytoplasm and vesicles structures (By similarity). Colocalized with MAPK1 and MAPK3 in RVLM neurons (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NISCH gene
Compartment Confidence
plasma membrane 5
endosome 5
cytosol 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NISCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005829 cytosol IDA 15028622
GO:0005886 plasma membrane IDA 15028622
genes like me logo Genes that share ontologies with NISCH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NISCH Gene

Pathways & Interactions for NISCH Gene

PathCards logo

SuperPathways for NISCH Gene

SuperPathway Contained pathways
1 Cytoskeletal Signaling
2 EPH-Ephrin signaling
.35
genes like me logo Genes that share pathways with NISCH: view

Pathways by source for NISCH Gene

1 GeneGo (Thomson Reuters) pathway for NISCH Gene
  • Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
1 Cell Signaling Technology pathway for NISCH Gene

Gene Ontology (GO) - Biological Process for NISCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006006 glucose metabolic process IEA --
GO:0006915 apoptotic process IEA --
GO:0008217 regulation of blood pressure IEA --
GO:0016601 Rac protein signal transduction IEA --
GO:0030036 actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with NISCH: view

No data available for SIGNOR curated interactions for NISCH Gene

Drugs & Compounds for NISCH Gene

(30) Drugs for NISCH Gene - From: DrugBank, ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Moxonidine Approved, Investigational Pharma Target, agonist I1R/α2AR agonist 17
Tizanidine Approved, Investigational Pharma Target, agonist 23
agmatine Experimental Pharma Activator, Target, agonist 0
AGN 192403 hydrochloride Pharma I1 imidazoline receptor, I1 selective ligand 0
Moxonidine hydrochloride Pharma α2AR/I1R agonist, I1 receptor and alpha2-adrenoceptor agonist (I1 > alpha2) 0

(8) Additional Compounds for NISCH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) Tocris Compounds for NISCH Gene

Compound Action Cas Number
AGN 192403 hydrochloride I1 selective ligand 1021868-90-5
Moxonidine hydrochloride I1 receptor and alpha2-adrenoceptor agonist (I1 > alpha2) 75536-04-8

(5) ApexBio Compounds for NISCH Gene

Compound Action Cas Number
AGN 192403 hydrochloride I1 imidazoline receptor 1021868-90-5
KU14R I(3)-R antagonist 189224-48-4
Moxonidine I1R/α2AR agonist 75438-57-2
Moxonidine hydrochloride α2AR/I1R agonist 75536-04-8
Rilmenidine Phosphate antihypertensive drug targets the imidazoline receptor 85409-38-7
genes like me logo Genes that share compounds with NISCH: view

Drug Products

Transcripts for NISCH Gene

mRNA/cDNA for NISCH Gene

3 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NISCH

Alternative Splicing Database (ASD) splice patterns (SP) for NISCH Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b · 16c · 16d ^
SP1: - - - - - -
SP2: - - -
SP3:
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 17a · 17b · 17c ^ 18 ^ 19a · 19b · 19c · 19d ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c ^ 25 ^ 26 ^ 27 ^ 28a · 28b · 28c · 28d ·
SP1:
SP2: - - - - - -
SP3: - - - -
SP4:
SP5: - -
SP6:
SP7:
SP8:
SP9: - - - - - -
SP10: - - - -
SP11: - -
SP12:
SP13:
SP14:
SP15: - -
SP16:
SP17:
SP18:

ExUns: 28e ^ 29
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for NISCH Gene

GeneLoc Exon Structure for
NISCH

Expression for NISCH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NISCH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NISCH Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NISCH

SOURCE GeneReport for Unigene cluster for NISCH Gene:

Hs.435290

mRNA Expression by UniProt/SwissProt for NISCH Gene:

Q9Y2I1-NISCH_HUMAN
Tissue specificity: Isoform 1, isoform 3 and isoform 4 are expressed in brain. Isoform 1 is expressed in endocrine tissues.

Evidence on tissue expression from TISSUES for NISCH Gene

  • Nervous system(5)
  • Eye(4.5)
  • Skin(3.3)
  • Lung(3.2)
  • Heart(2.7)
  • Liver(2.7)
  • Intestine(2.7)
  • Blood(2.7)
  • Muscle(2.7)
  • Adrenal gland(2.6)
  • Kidney(2.6)
  • Gall bladder(2.4)
  • Thyroid gland(2.4)
  • Pancreas(2.4)
  • Spleen(2.3)
  • Lymph node(2.3)
  • Bone marrow(2.1)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with NISCH: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NISCH Gene

Orthologs for NISCH Gene

This gene was present in the common ancestor of animals.

Orthologs for NISCH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NISCH 30 31
  • 99.07 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NISCH 30 31
  • 88.11 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NISCH 30 31
  • 87.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nisch 30
  • 85.24 (n)
Mouse
(Mus musculus)
Mammalia Nisch 31
  • 84 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NISCH 31
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NISCH 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NISCH 31
  • 60 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NISCH 31
  • 56 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii nisch 31
  • 48 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG11807 30 31
  • 47.95 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011394 30
  • 45.95 (n)
Worm
(Caenorhabditis elegans)
Secernentea F13E9.1 31 32
  • 34 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToOne
Species where no ortholog for NISCH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for NISCH Gene

ENSEMBL:
Gene Tree for NISCH (if available)
TreeFam:
Gene Tree for NISCH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NISCH: view image

Paralogs for NISCH Gene

Paralogs for NISCH Gene

(1) SIMAP similar genes for NISCH Gene using alignment to 2 proteins:

  • NISCH_HUMAN
  • C9J715_HUMAN
genes like me logo Genes that share paralogs with NISCH: view

Variants for NISCH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NISCH Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
710198 Benign: not provided 52,487,364(+) T/C SYNONYMOUS_VARIANT
716630 Benign: not provided 52,480,255(+) C/T SYNONYMOUS_VARIANT
733315 Likely Benign: not provided 52,471,848(+) C/T SYNONYMOUS_VARIANT
770528 Benign: not provided 52,488,281(+) G/A MISSENSE_VARIANT
774298 Benign: not provided 52,476,576(+) G/. NO_SEQUENCE_ALTERATION

Additional dbSNP identifiers (rs#s) for NISCH Gene

Structural Variations from Database of Genomic Variants (DGV) for NISCH Gene

Variant ID Type Subtype PubMed ID
nsv3819 CNV insertion 18451855
nsv472838 CNV novel sequence insertion 20440878
nsv590304 CNV loss 21841781
nsv834697 CNV loss 17160897
nsv954860 CNV deletion 24416366
nsv954862 CNV deletion 24416366

Variation tolerance for NISCH Gene

Residual Variation Intolerance Score: 1.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.64; 56.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NISCH Gene

Human Gene Mutation Database (HGMD)
NISCH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NISCH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NISCH Gene

Disorders for NISCH Gene

MalaCards: The human disease database

(9) MalaCards diseases for NISCH Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aplasia of lacrimal and salivary glands
  • alsg
cholestasis, progressive familial intrahepatic, 4
  • bile acid synthesis defect, congenital, 1
congestive heart failure
  • cardiac failure congestive
nasal cavity lymphoma
  • lymphoma of nasal cavity
cholestasis, benign recurrent intrahepatic, 1
  • bric1
- elite association - COSMIC cancer census association via MalaCards
Search NISCH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NISCH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NISCH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NISCH Gene

Publications for NISCH Gene

  1. Imidazoline receptor antisera-selected (IRAS) cDNA: cloning and characterization. (PMID: 10882231) Piletz JE … Reis DJ (DNA and cell biology 2000) 2 3 4 23
  2. Human Nischarin/imidazoline receptor antisera-selected protein is targeted to the endosomes by a combined action of a PX domain and a coiled-coil region. (PMID: 15475348) Lim KP … Hong W (The Journal of biological chemistry 2004) 3 4 23
  3. IRAS splice variants. (PMID: 15028621) Piletz JE … Ziegler D (Annals of the New York Academy of Sciences 2003) 3 4 23
  4. IRAS, the human homologue of Nischarin, prolongs survival of transfected PC12 cells. (PMID: 12868002) Dontenwill M … Bousquet P (Cell death and differentiation 2003) 3 4 23
  5. Insulin receptor substrate 4 associates with the protein IRAS. (PMID: 11912194) Sano H … Lienhard GE (The Journal of biological chemistry 2002) 2 3 4

Products for NISCH Gene

  • Signalway ELISA kits for NISCH

Sources for NISCH Gene