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ORAI1 Gene

protein-coding   GIFtS: 60
GCID: GC12P122064

ORAI Calcium Release-Activated Calcium Modulator 1

(Previous name: transmembrane protein 142A)
(Previous symbol: TMEM142A)
  See ORAI1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ORAI Calcium Release-Activated Calcium Modulator 11 2     Protein Orai-12 3
TMEM142A1 2 3 5     IMD92 5
Transmembrane Protein 142A1 2 3     ORAT12
CRACM12 3 5     Calcium Release-Activated Calcium Channel Protein 12
Calcium Release-Activated Calcium Modulator 11 2     

External Ids:    HGNC: 258961   Entrez Gene: 848762   Ensembl: ENSG000001825007   OMIM: 6102775   UniProtKB: Q96D313   

Export aliases for ORAI1 gene to outside databases

Previous GC identifers: GC12P120550 GC12P119077


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include store-operated calcium channel activity. An important paralog of this gene is ORAI2.

UniProtKB/Swiss-Prot: CRCM1_HUMAN, Q96D31
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. 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

summary for ORAI1 Gene:
STIM-Orai channels have recently been identified as the underlying molecular mechanism of store-operated
calcium entry (SOCE). SOCE allows rapid Ca2+ efflux from the endoplasmic reticulum (ER), following the
emptying of intracellular Ca2+ stores. STIM (sensors stromal interaction molecule) proteins, STIM1 and
STIM2, serve as ER Ca2+ sensors. They contain N'-terminal Ca2+-sensing EF-hand domains and are localized to
the tubular ER. Following Ca2+ store depletion, STIMs rapidly cluster and relocalize to the plasma
membrane-adjacent ER regions, where they oligomerize and form 'puncta'. Orai proteins, Orai1, Orai2 and
Orai3, are STIM binding partners that form the pore of the channel. Orai proteins are uniformly distributed
in the plasma membrane and exist as dimers in the resting state. STIM activation induces tetramerization of
Orai proteins and subsequent STIM-Orai colocalization, which forms the active store-operated calcium
channel.

Gene Wiki entry for ORAI1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ORAI1 gene promoter:
         p53   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   STAT5A   HNF-4alpha2   POU3F2   HNF-4alpha1   S8   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidORAI1 promoter sequence
   Search Chromatin IP Primers for ORAI1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ORAI1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

ORAI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ORAI1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P122064:  view genomic region     (about GC identifiers)

Start:
122,064,455 bp from pter      End:
122,080,583 bp from pter
Size:
16,129 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CRCM1_HUMAN, Q96D31 (See protein sequence)
Recommended Name: Calcium release-activated calcium channel protein 1  
Size: 301 amino acids; 32668 Da
Subunit: Interacts with STIM1 and STIM2. Interacts with EFCAB4B/CRACR2A; the interaction is direct and takes place
in absence of Ca(2+). Forms a complex with EFCAB4B/CRACR2A and STIM1 at low concentration of Ca(2+), the complex
dissociates at elevated Ca(2+) concentrations. Interacts with ASPH (isoform 8)
Miscellaneous: In Greek mythology, the 'Orai' are the keepers of the gates of heaven: Eunomia (order or harmony),
Dike (justice) and Eirene (peace)
Sequence caution: Sequence=AAH13386.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI04634.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB55068.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from and Proteopedia for ORAI1:
2MAK (3D)        4EHQ (3D)    
Secondary accessions: Q3MHV3 Q6DHX2 Q96BP7 Q96K71
Alternative initiation: 2 isoforms:  Q96D31-1   Q96D31-2   

Explore the universe of human proteins at neXtProt for ORAI1: NX_Q96D31

Explore proteomics data for ORAI1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn223
  • Modification sites at PhosphoSitePlus

  • See ORAI1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_116179.2  
    ENSEMBL proteins: 
     ENSP00000328216   ENSP00000441198  
    Reactome Protein details: Q96D31

    ORAI1 Human Recombinant Protein Products:

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    Novus Biologicals ORAI1 Proteins
    Novus Biologicals ORAI1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ORAI1 

     
    Search antibodies-online for proteins for ORAI1 

     
    antibodies-online peptides for ORAI1

    ORAI1 Antibody Products:

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    antibodies-online antibodies for ORAI1 (83 products) 

    ORAI1 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for ORAI1 
    antibodies-online kits for ORAI1 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ORAI: ORAI calcium release-activated calcium modulators

    1 InterPro protein domain:
     IPR012446 CRAC_channel

    Graphical View of Domain Structure for InterPro Entry Q96D31

    ProtoNet protein and cluster: Q96D31

    1 Blocks protein domain: IPB012446 Protein of unknown function DUF1650

    UniProtKB/Swiss-Prot: CRCM1_HUMAN, Q96D31
    Similarity: Belongs to the Orai family


    Find genes that share domains with ORAI1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRCM1_HUMAN, Q96D31
    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. 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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17905723
    GO:0015279store-operated calcium channel activity IDA16645049
         
    Find genes that share ontologies with ORAI1           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Orai1):
     cellular  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  nervous system  vision/eye 

    Find genes that share phenotypes with ORAI1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Orai1tm1Rao for ORAI1

       genOway: Develop your customized and physiologically relevant rodent model for ORAI1

    miRNA
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    Block miRNA regulation of human, mouse, rat ORAI1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ORAI1 (see all 17):
    hsa-miR-106a hsa-miR-519a hsa-miR-93 hsa-miR-520g hsa-miR-526b* hsa-miR-17 hsa-miR-20a hsa-miR-519d
    SwitchGear 3'UTR luciferase reporter plasmidORAI1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ORAI1
    Predesigned siRNA for gene silencing in human, mouse, rat ORAI1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for ORAI1 (see all 7)
    OriGene ORF clones in mouse, rat for ORAI1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ORAI1 (NM_032790)
    Sino Biological Human cDNA Clone for ORAI1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ORAI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ORAI1
    Addgene plasmids for ORAI1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORAI1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CRCM1_HUMAN, Q96D31: Cell membrane; Multi-pass membrane protein. Note=Isoform beta is more mobile in the plasma
    membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum3
    cytoskeleton1
    cytosol1
    extracellular1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane IDA16645049
    GO:0043234protein complex IEA--

    Find genes that share ontologies with ORAI1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ORAI1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Platelet homeostasis
    Platelet homeostasis
    Platelet calcium homeostasis0.00
    Elevation of cytosolic Ca2+ levels0.00
    2TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells0.64
    TCR signaling in naive CD4+ T cells0.64
    3Downstream Signaling Events Of B Cell Receptor (BCR)
    Signaling by the B Cell Receptor (BCR)0.79
    4Antigen Activates B Cell Receptor Leading to Generation of Second Messengers
    Antigen Activates B Cell Receptor Leading to Generation of Second Messengers0.47
    5Hemostasis
    Hemostasis0.43


    Find genes that share SuperPaths with ORAI1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ORAI1
        TCR signaling in naive CD4+ T cells
    TCR signaling in naive CD8+ T cells


    2 Reactome Pathways for ORAI1
        Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
    Elevation of cytosolic Ca2+ levels


    2 Kegg Pathways  (Kegg details for ORAI1):
        Calcium signaling pathway
    Primary immunodeficiency

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ORAI1
    Interactions:

        GeneGlobe Interaction Network for ORAI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for ORAI1 (Q96D311, 2, 3 ENSP000003282164) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STIM1Q135861, 2, 3, ENSP000003007374EBI-2291476,EBI-448878 MINT-8186918 I2D: score=2 STRING: ENSP00000300737
    ATP2C2O751851, 3, ENSP000002624294EBI-2291476,EBI-2939806 I2D: score=1 STRING: ENSP00000262429
    TRPC6Q9Y2103, ENSP000003409134I2D: score=1 STRING: ENSP00000340913
    TRPC3Q135073, ENSP000003689664I2D: score=1 STRING: ENSP00000368966
    EFCAB4BQ9BSW21, ENSP000004093824EBI-2291476,EBI-739773 STRING: ENSP00000409382
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002115store-operated calcium entry IEA--
    GO:0002376immune system process IEA--
    GO:0007596blood coagulation TAS--
    GO:0051924regulation of calcium ion transport IMP16921383
    GO:0051928positive regulation of calcium ion transport IDA16645049

    Find genes that share ontologies with ORAI1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ORAI1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SKF 96365 hydrochlorideTRPC channel blocker; also inhibits store-operated Ca2+ entry[130495-35-1]



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ORAI1 gene: 
    NM_032790.3  

    Unigene Cluster for ORAI1:

    ORAI calcium release-activated calcium modulator 1
    Hs.55148  [show with all ESTs]
    Unigene Representative Sequence: BM558579
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330079(uc021rff.1) ENST00000537188
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ORAI1 (see all 17):
    hsa-miR-106a hsa-miR-519a hsa-miR-93 hsa-miR-520g hsa-miR-526b* hsa-miR-17 hsa-miR-20a hsa-miR-519d
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    Addgene plasmids for ORAI1 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ORAI1
      QuantiTect SYBR Green Assays in human, mouse, rat ORAI1
      QuantiFast Probe-based Assays in human, mouse, rat ORAI1

    Additional mRNA sequence: 

    AK027372.1 BC013386.1 BC015369.1 BC075831.1 BC104633.1 

    4 DOTS entries:

    DT.212931  DT.91698308  DT.95373207  DT.92451792 

    Selected AceView cDNA sequences (see all 108):

    BI767201 BM713220 BQ230434 W76549 BI042414 CR616901 AI205571 CR618487 
    AI262451 BQ055778 BG574128 CA423557 CR622003 BQ693967 AI928523 AA778558 
    CA454002 BM558602 AL530596 BQ889865 BM559406 AK027372 AA312083 AI270545 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ORAI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGTGTGAC
    ORAI1 Expression
    About this image


    ORAI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
    ORAI1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ORAI1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.55148
        Custom PCR Arrays for ORAI1
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ORAI1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Orai11 , 5 ORAI calcium release-activated calcium modulator 11, 5 88.27(n)1
    91.7(a)1
      5 (62.72 cM)5
    1093051  NM_175423.31  NP_780632.11 
     1230150745 
    chicken
    (Gallus gallus)
    Aves ORAI11 ORAI calcium release-activated calcium modulator 1 77.43(n)
    91.15(a)
      416845  NM_001030658.1  NP_001025829.1 
    lizard
    (Anolis carolinensis)
    Reptilia ORAI16
    ORAI calcium release-activated calcium modulator 1...
    91(a)
    1 ↔ 1
    GL343550.1(125296-143540)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.239672 Xenopus laevis transcribed sequence with moderate similarity more 79.2(n)    CA981521.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.259452 Danio rerio clone RK055A1G11 hypothetical protein FLJ14466 more 82.41(n)    AY394960.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta olf186-F6
    olf186-F
    25(a)
    1 → many
    2R(13730950-13748075)
    worm
    (Caenorhabditis elegans)
    Secernentea orai-16
    Protein ORAI-1, isoform b (orai-1) mRNA, complete ...
    30(a)
    1 → many
    III(647126-654463) WBGene00015648


    ENSEMBL Gene Tree for ORAI1 (if available)
    TreeFam Gene Tree for ORAI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ORAI1 gene
    ORAI22  ORAI32  
    2 SIMAP similar genes for ORAI1 using alignment to 2 protein entries:     CRCM1_HUMAN (see all proteins):
    ORAI2    ORAI3

    Find genes that share paralogs with ORAI1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ORAI1 (see all 429)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0262264
    Immunodeficiency 9 (IMD9)4--see VAR_0262262 R W mis40--------
    rs1871053591,2
    --121860996(+) ATTAGC/GAGATA 1 -- us2k10--------
    rs1900389581,2
    --121861068(+) TGTAAC/TTAACC 1 -- us2k10--------
    rs1494086691,2
    --121861129(+) TTAAAA/TTTTAA 1 -- us2k10--------
    rs2004492081,2
    --121861129(+) TTAAA-/TTTTAA 1 -- us2k10--------
    rs586144441,2
    C--121861132(+) AATTTA/TAAAAA 1 -- us2k11Minor allele frequency- T:0.00WA 2
    rs359896861,2
    C,F--121861133(+) ATTTTA/TAAAAA 1 -- us2k14Minor allele frequency- T:0.14NA CSA 126
    rs1485416671,2
    C--121861159(+) CTCTGC/TGGGAA 1 -- us2k10--------
    rs1170826321,2
    F--121861176(+) ACTTCT/CTGGGG 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs123209391,2
    C,F,A,H--121861262(+) CAACCT/GGCAAT 1 -- us2k123Minor allele frequency- G:0.43NS EA NA WA CSA 2344

    HapMap Linkage Disequilibrium report for ORAI1 (122064455 - 122080583 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ORAI1: --
    Human Gene Mutation Database (HGMD): ORAI1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ORAI1
    DNA2.0 Custom Variant and Variant Library Synthesis for ORAI1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 610277   
    OMIM disorders: 612782  
    UniProtKB/Swiss-Prot: CRCM1_HUMAN, Q96D31
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 3 diseases for ORAI1:    
    About MalaCards
    immunodeficiency 9    myopathy, tubular aggregate, 2    myopathy, tubular aggregate, 1


    Find genes that share disorders with ORAI1           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: ORAI1 (1 document)

    Export disorders for ORAI1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for ORAI1 gene, integrated from 10 sources (see all 149):
    (articles sorted by number of sources associating them with ORAI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. (PubMed id 16582901)1, 2, 3 Feske S.... Rao A. (Nature 2006)
    2. Junctate is a Ca2+-sensing structural component of Orai1 and stromal interaction molecule 1 (STIM1). (PubMed id 22586105)1, 2 Srikanth S.... Gwack Y. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    3. Alternative translation initiation gives rise to two isoforms of orai1 with distinct plasma membrane mobilities. (PubMed id 22641696)1, 2 Fukushima M.... Putney J.W. (J. Cell Sci. 2012)
    4. STIM2 protein mediates distinct store-dependent and store-independent modes of CRAC channel activation. (PubMed id 17905723)1, 2 Parvez S.... Penner R. (FASEB J. 2008)
    5. Orai1 and STIM reconstitute store-operated calcium channel function. (PubMed id 16766533)1, 2 Soboloff J....Gill D.L. (J. Biol. Chem. 2006)
    6. Amplification of CRAC current by STIM1 and CRACM1 (Orai1). (PubMed id 16733527)1, 2 Peinelt C.... Kinet J.-P. (Nat. Cell Biol. 2006)
    7. CRACM1 is a plasma membrane protein essential for store-operated Ca2+ entry. (PubMed id 16645049)1, 2 Vig M....Kinet J.-P. (Science 2006)
    8. Large store-operated calcium selective currents due to co-expression of Orai1 or Orai2 with the intracellular calcium sensor, Stim1. (PubMed id 16807233)1, 2 Mercer J.C.... Putney J.W. Jr. (J. Biol. Chem. 2006)
    9. A severe defect in CRAC Ca2+ channel activation and altered K+ channel gating in T cells from immunodeficient patients. (PubMed id 16147976)1, 2 Feske S.... Lewis R.S. (J. Exp. Med. 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 84876 HGNC: 25896 AceView: FLJ14466 Ensembl:ENSG00000182500 euGenes: HUgn84876
    ECgene: ORAI1 Kegg: 84876 H-InvDB: ORAI1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ORAI1 Pharmacogenomics, SNPs, Pathways
    ORAI1basehttp://bioinf.uta.fi/ORAI1base/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ORAI1 gene:
    Search GeneIP for patents involving ORAI1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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