The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011... See more...

Aliases for ORAI1 Gene

Aliases for ORAI1 Gene

  • ORAI Calcium Release-Activated Calcium Modulator 1 2 3 5
  • Transmembrane Protein 142A 2 3 4
  • CRACM1 2 3 4
  • Calcium Release-Activated Calcium Channel Protein 1 3 4
  • Calcium Release-Activated Calcium Modulator 1 2 3
  • Protein Orai-1 3 4
  • TMEM142A 3 4
  • FLJ14466 2
  • ORAT1 3
  • ORAI1 5
  • IMD9 3
  • TAM2 3

External Ids for ORAI1 Gene

Previous HGNC Symbols for ORAI1 Gene

  • TMEM142A

Previous GeneCards Identifiers for ORAI1 Gene

  • GC12P120550
  • GC12P122064
  • GC12P119077
  • GC12P121665
  • GC12P121668
  • GC12P122336
  • GC12P122415
  • GC12P122440
  • GC12P122635
  • GC12P121672
  • GC12P121679
  • GC12P121683
  • GC12P121997
  • GC12P122020
  • GC12P122103
  • GC12P122178
  • GC12P122258

Summaries for ORAI1 Gene

Entrez Gene Summary for ORAI1 Gene

  • The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011]

GeneCards Summary for ORAI1 Gene

ORAI1 (ORAI Calcium Release-Activated Calcium Modulator 1) is a Protein Coding gene. Diseases associated with ORAI1 include Immunodeficiency 9 and Myopathy, Tubular Aggregate, 2. Among its related pathways are Platelet homeostasis and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include identical protein binding and store-operated calcium channel activity. An important paralog of this gene is ORAI3.

UniProtKB/Swiss-Prot Summary for ORAI1 Gene

  • Ca(2+) release-activated Ca(2+) (CRAC) channel subunit which mediates Ca(2+) influx following depletion of intracellular Ca(2+) stores and channel activation by the Ca(2+) sensor, STIM1 (PubMed:16582901, PubMed:16645049, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:19249086, PubMed:23307288, PubMed:24351972, PubMed:24591628, PubMed:28219928, PubMed:20354224, PubMed:26956484). CRAC channels are the main pathway for Ca(2+) influx in T-cells and promote the immune response to pathogens by activating the transcription factor NFAT (PubMed:16582901).

Tocris Summary for ORAI1 Gene

  • STIM-Orai channels have recently been identified as the underlying molecular mechanism of store-operated calcium entry (SOCE). STIM (stromal interaction molecule) proteins are ER Ca2+ sensors. Orai proteins are STIM binding partners that form the channel pore.

Gene Wiki entry for ORAI1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ORAI1 Gene

Genomics for ORAI1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ORAI1 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 ORAI1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ORAI1

Top Transcription factor binding sites by QIAGEN in the ORAI1 gene promoter:
  • FOXO1
  • FOXO1a
  • HNF-4alpha1
  • HNF-4alpha2
  • p53
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • S8
  • STAT5A

Genomic Locations for ORAI1 Gene

Genomic Locations for ORAI1 Gene
chr12:121,626,550-121,642,677
(GRCh38/hg38)
Size:
16,128 bases
Orientation:
Plus strand
chr12:122,064,455-122,080,583
(GRCh37/hg19)
Size:
16,129 bases
Orientation:
Plus strand

Genomic View for ORAI1 Gene

Genes around ORAI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ORAI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ORAI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ORAI1 Gene

Proteins for ORAI1 Gene

  • Protein details for ORAI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96D31-CRCM1_HUMAN
    Recommended name:
    Calcium release-activated calcium channel protein 1
    Protein Accession:
    Q96D31
    Secondary Accessions:
    • Q3MHV3
    • Q6DHX2
    • Q96BP7
    • Q96K71

    Protein attributes for ORAI1 Gene

    Size:
    301 amino acids
    Molecular mass:
    32668 Da
    Quaternary structure:
    • Interacts with STIM1 and STIM2; this regulates channel activity (PubMed:17905723, PubMed:19249086, PubMed:24351972, PubMed:28219928, PubMed:27185316, PubMed:30481768). Interacts with CALM; this may displace STIM1 and STIM2 and might thereby modulate channel activity (PubMed:23109337). Interacts with CRACR2A/EFCAB4B; the interaction is direct and takes place in absence of Ca(2+) (PubMed:20418871). Forms a complex with CRACR2A/EFCAB4B and STIM1 at low concentration of Ca(2+), the complex dissociates at elevated Ca(2+) concentrations. Interacts with ASPH (isoform 8) (PubMed:22586105). Interacts with SLC35G1 (PubMed:22084111). Interacts with UBQLN1 (PubMed:23307288). Interacts with ADCY8; interaction is calcium store depletion independent; interaction occurs in membrane raft; interaction increases markedly after store depletion; positively regulates SOCE-induced adenylate cyclase activity; contributes to the targeting of ADCY8 to discrete regions of the plasma membrane that are shielded from other calcium events (PubMed:22494970). Interacts with EFHB; the interaction takes place upon Ca(2+)-store depletion (PubMed:30481768).
    SequenceCaution:
    • Sequence=AAH13386.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI04634.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55068.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • In Greek mythology, the 'Orai' are the keepers of the gates of heaven: Eunomia (order or harmony), Dike (justice) and Eirene (peace).

    Three dimensional structures from OCA and Proteopedia for ORAI1 Gene

    Alternative splice isoforms for ORAI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ORAI1 Gene

Post-translational modifications for ORAI1 Gene

  • N-glycosylated (PubMed:19249086, PubMed:26956484). N-glycosylation inhibits channel activity in T cells (PubMed:26956484).
  • Ubiquitinated.
  • Cys-195 is oxidated, leading to inactivation of channel activity.
  • Glycosylation at Asn223
  • Modification sites at PhosphoSitePlus

Other Protein References for ORAI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ORAI1
  • Santa Cruz Biotechnology (SCBT) Antibodies for ORAI1

No data available for DME Specific Peptides for ORAI1 Gene

Domains & Families for ORAI1 Gene

Gene Families for ORAI1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for ORAI1 Gene

InterPro:
Blocks:
  • Protein of unknown function DUF1650
ProtoNet:

Suggested Antigen Peptide Sequences for ORAI1 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 142A (CRCM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96D31

UniProtKB/Swiss-Prot:

CRCM1_HUMAN :
  • Belongs to the Orai family.
Family:
  • Belongs to the Orai family.
genes like me logo Genes that share domains with ORAI1: view

Function for ORAI1 Gene

Molecular function for ORAI1 Gene

UniProtKB/Swiss-Prot Function:
Ca(2+) release-activated Ca(2+) (CRAC) channel subunit which mediates Ca(2+) influx following depletion of intracellular Ca(2+) stores and channel activation by the Ca(2+) sensor, STIM1 (PubMed:16582901, PubMed:16645049, PubMed:16733527, PubMed:16766533, PubMed:16807233, PubMed:19249086, PubMed:23307288, PubMed:24351972, PubMed:24591628, PubMed:28219928, PubMed:20354224, PubMed:26956484). CRAC channels are the main pathway for Ca(2+) influx in T-cells and promote the immune response to pathogens by activating the transcription factor NFAT (PubMed:16582901).
UniProtKB/Swiss-Prot EnzymeRegulation:
Oxidation at Cys-195 leads to inactivation of channel activity.

Phenotypes From GWAS Catalog for ORAI1 Gene

Gene Ontology (GO) - Molecular Function for ORAI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity IEA,IDA 31009446
GO:0005515 protein binding IPI 17360584
GO:0005516 calmodulin binding IEA --
GO:0015279 store-operated calcium channel activity IDA 16645049
GO:0042802 identical protein binding IPI 18757751
genes like me logo Genes that share ontologies with ORAI1: view
genes like me logo Genes that share phenotypes with ORAI1: view

Human Phenotype Ontology for ORAI1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ORAI1 Gene

MGI Knock Outs for ORAI1:
  • Orai1 Orai1<tm1Rao>
  • Orai1 Orai1<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for ORAI1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ORAI1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ORAI1 Gene

Localization for ORAI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ORAI1 Gene

Cell membrane. Multi-pass membrane protein. Note=Isoform beta is more mobile in the plasma membrane (PubMed:23307288). Colocalizes with STIM1 at the cell membrane (PubMed:27185316). {ECO:0000269 PubMed:23307288, ECO:0000269 PubMed:27185316}.

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 ORAI1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
endoplasmic reticulum 3
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ORAI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA,IDA 19171672
GO:0005887 integral component of plasma membrane IDA 16645049
GO:0016020 membrane IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ORAI1: view

Pathways & Interactions for ORAI1 Gene

genes like me logo Genes that share pathways with ORAI1: view

SIGNOR curated interactions for ORAI1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ORAI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002115 store-operated calcium entry IBA,IDA 28219928
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
genes like me logo Genes that share ontologies with ORAI1: view

Drugs & Compounds for ORAI1 Gene

(4) Drugs for ORAI1 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-APB Pharma Channel blocker, Pore Blocker, Antagonist, Gating inhibitor, Activator, Agonist, Potentiation IP3 receptor antagonist. Also TRP channel modulator 0
ML 9 hydrochloride Pharma Myosin light chain kinase inhibitor 0
SKF 96365 hydrochloride Pharma SOCE inhibitor, TRPC channel blocker; also inhibits store-operated Ca2+ entry 0
YM 58483 Pharma Inhibitor of SOCE in non-excitable cells 0

(1) Additional Compounds for ORAI1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5J 4
827001-82-1

(5) Tocris Compounds for ORAI1 Gene

Compound Action Cas Number
2-APB IP3 receptor antagonist. Also TRP channel modulator 524-95-8
5J 4 CRAC channel blocker; anti-inflammatory 827001-82-1
ML 9 hydrochloride Myosin light chain kinase inhibitor 105637-50-1
SKF 96365 hydrochloride TRPC channel blocker; also inhibits store-operated Ca2+ entry 130495-35-1
YM 58483 Inhibitor of SOCE in non-excitable cells 223499-30-7
genes like me logo Genes that share compounds with ORAI1: view

Transcripts for ORAI1 Gene

mRNA/cDNA for ORAI1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 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 ORAI1

Alternative Splicing Database (ASD) splice patterns (SP) for ORAI1 Gene

No ASD Table

Relevant External Links for ORAI1 Gene

GeneLoc Exon Structure for
ORAI1

Expression for ORAI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ORAI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ORAI1 Gene

This gene is overexpressed in Whole Blood (x7.2) and Skin - Sun Exposed (Lower leg) (x4.2).

Protein differential expression in normal tissues from HIPED for ORAI1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (27.9), Breast (19.1), and CD8 Tcells (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ORAI1 Gene



Protein tissue co-expression partners for ORAI1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ORAI1

SOURCE GeneReport for Unigene cluster for ORAI1 Gene:

Hs.55148

mRNA Expression by UniProt/SwissProt for ORAI1 Gene:

Q96D31-CRCM1_HUMAN
Tissue specificity: Expressed in naive CD4 and CD8 T cells (at protein level) (PubMed:26956484). Expressed at similar levels in naive and effector T helper cells (PubMed:20354224).

Evidence on tissue expression from TISSUES for ORAI1 Gene

  • Liver(4.5)
  • Bone marrow(4.4)
  • Muscle(3.8)
  • Blood(2.8)
  • Skin(2.7)
  • Intestine(2.5)
  • Nervous system(2.4)
  • Kidney(2.4)
  • Heart(2.4)
  • Spleen(2.3)
  • Lymph node(2.3)
  • Stomach(2.2)
  • Lung(2.2)
  • Pancreas(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ORAI1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • heart
  • lung
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shin
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ORAI1: view

Orthologs for ORAI1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ORAI1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ORAI1 30
  • 98.34 (n)
Cow
(Bos Taurus)
Mammalia ORAI1 30
  • 93.4 (n)
Dog
(Canis familiaris)
Mammalia ORAI1 30
  • 91.56 (n)
Mouse
(Mus musculus)
Mammalia Orai1 30 17
  • 88.27 (n)
Rat
(Rattus norvegicus)
Mammalia Orai1 30
  • 88.01 (n)
Chicken
(Gallus gallus)
Aves ORAI1 30
  • 77.43 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia orai2 30
  • 75.53 (n)
Str.15128 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.23967 30
Zebrafish
(Danio rerio)
Actinopterygii LOC566671 30
  • 74.19 (n)
Dr.25945 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8801 30
Species where no ortholog for ORAI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ORAI1 Gene

ENSEMBL:
Gene Tree for ORAI1 (if available)
TreeFam:
Gene Tree for ORAI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ORAI1: view image

Paralogs for ORAI1 Gene

Paralogs for ORAI1 Gene

(2) SIMAP similar genes for ORAI1 Gene using alignment to 2 proteins:

  • CRCM1_HUMAN
  • F5GWZ3_HUMAN
genes like me logo Genes that share paralogs with ORAI1: view

Variants for ORAI1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ORAI1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
639606 Likely Pathogenic: Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 121,641,282(+) TC/T FRAMESHIFT_VARIANT
644104 Uncertain Significance: Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 121,626,748(+) T/G MISSENSE_VARIANT
650573 Uncertain Significance: Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 121,626,852(+) GGGAGCCCCC/G INFRAME_DELETION
652118 Uncertain Significance: Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2; not provided 121,626,779(+) A/T MISSENSE_VARIANT
660638 Uncertain Significance: Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 121,626,856(+) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ORAI1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ORAI1 Gene

Variant ID Type Subtype PubMed ID
esv3630950 CNV loss 21293372
esv3630951 CNV gain 21293372
nsv1053272 CNV gain 25217958
nsv1131048 CNV deletion 24896259
nsv560458 CNV loss 21841781

Variation tolerance for ORAI1 Gene

Residual Variation Intolerance Score: 54.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ORAI1 Gene

Human Gene Mutation Database (HGMD)
ORAI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ORAI1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ORAI1 Gene

Disorders for ORAI1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ORAI1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ORAI1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CRCM1_HUMAN
  • Immunodeficiency 9 (IMD9) [MIM:612782]: An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed. {ECO:0000269 PubMed:16147976, ECO:0000269 PubMed:16582901}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883]: A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. TAM2 patients have myopathy and pupillary abnormalities. {ECO:0000269 PubMed:24591628, ECO:0000269 PubMed:28058752}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ORAI1

genes like me logo Genes that share disorders with ORAI1: view

No data available for Genatlas for ORAI1 Gene

Publications for ORAI1 Gene

  1. A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. (PMID: 16582901) Feske S … Rao A (Nature 2006) 2 3 4
  2. EFHB is a Novel Cytosolic Ca2+ Sensor That Modulates STIM1-SARAF Interaction. (PMID: 30481768) Albarran L … Rosado JA (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018) 3 4
  3. Mitochondria control store-operated Ca2+ entry through Na+ and redox signals. (PMID: 28219928) Ben-Kasus Nissim T … Sekler I (The EMBO journal 2017) 3 4
  4. ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. (PMID: 28058752) Böhm J … Laporte J (Human mutation 2017) 3 4
  5. Calsequestrin-1 Regulates Store-Operated Ca2+ Entry by Inhibiting STIM1 Aggregation. (PMID: 27185316) Zhang L … Luo D (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2016) 3 4

Products for ORAI1 Gene

  • Signalway Proteins for ORAI1

Sources for ORAI1 Gene