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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ORAI1 Gene

protein-coding   GIFtS: 59
GCID: GC12P122064

ORAI calcium release-activated calcium modulator 1

(Previous name: transmembrane protein 142A )
(Previous symbol: TMEM142A)
 Explore 20 diseases affiliated with
ORAI1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ORAI1    

Aliases
for ORAI1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ORAI Calcium Release-Activated Calcium Modulator 11 2     FLJ144661
CRACM11 2 3 5     ORAT12
TMEM142A1 2 3 5     Calcium Release-Activated Calcium Channel Protein 12
Transmembrane Protein 142A1 2 3     Calcium Release-Activated Calcium Modulator 12
Protein Orai-12 3     

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


Summaries
for ORAI1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ORAI1:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009775.17  
Regulatory elements:
   SABiosciences 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 plasmid: ORAI1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ORAI1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ORAI1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Cell membrane; Multi-pass membrane protein. Note=Isoform beta is more mobile in the plasma
membrane
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;
1 PDB 3D structure from and Proteopedia for ORAI1:
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96D31

    • ORAI1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_116179.2  
    ENSEMBL proteins: 
     ENSP00000328216   ENSP00000441198  
    Reactome Protein details: Q96D31
    Human Recombinant Protein Products: 
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    Novus Biologicals ORAI1 Proteins
    Novus Biologicals ORAI1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ORAI1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    ORAI1 for ontologies           About GeneDecksing



    ORAI1 Antibody Products: 
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    Uscn ELISAs and CLIAs for ORAI1

    Protein Domains /
    Families
    for ORAI1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ORAI1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR012446 CRAC_channel

    Graphical View of Domain Structure for InterPro Entry Q96D31

    ProtoNet protein and cluster: Q96D31

    1 Blocks protein family: IPB012446 Protein of unknown function DUF1650

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


    Function
    for ORAI1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ORAI1
    8/17 QIAGEN miScript miRNA 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 plasmid: ORAI1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ORAI1 (see all 4)
    OriGene shRNA RFP: ORAI1
    OriGene siRNA: ORAI1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ORAI1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ORAI1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ORAI1 (see all 3)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ORAI1 

    Cell Line
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    Search LifeMap BioReagents cell lines for ORAI1

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORAI1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0015279store-operated calcium channel activity IDA16645049


    ORAI1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Orai1tm1Rao for ORAI1
         9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Orai1):
     cellular  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  nervous system  vision/eye 

    ORAI1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ORAI1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Platelet calcium homeostasis
    		Platelet calcium homeostasis1.00
    		Elevation of cytosolic Ca2+ levels0.47
    2TCR signaling in naive CD4+ T cells
    		TCR signaling in naive CD4+ T cells1.00
    		TCR signaling in naive CD8+ T cells0.64
    3Immune System
    		Immune System1.00
    		Adaptive Immune System0.59
    4Signaling by the B Cell Receptor (BCR)
    		Signaling by the B Cell Receptor (BCR)1.00
    5Assembly of Signalosomes at the Activated BCR
    		Antigen Activates B Cell Receptor Leading to Generation of Second Messengers0.78

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/8        Reactome Pathways for ORAI1 (see all 8)
        Hemostasis
    Platelet homeostasis
    Adaptive Immune System
    Elevation of cytosolic Ca2+ levels
    Signaling by the B Cell Receptor (BCR)



    ORAI1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ORAI1

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

    5/9 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): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002115store-operated calcium entry IEA--
    GO:0007596blood coagulation TAS--
    GO:0051924regulation of calcium ion transport IMP16921383
    GO:0051928positive regulation of calcium ion transport IDA16807233


    ORAI1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ORAI1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ORAI1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    2-APBIP3 receptor antagonist. Also TRP channel modulator[524-95-8]
    SKF 96365 hydrochlorideSTIM1-mediated Ca2+ influx inhibitor[130495-35-1]
    ML 9 hydrochlorideMyosin light chain kinase inhibitor[105637-50-1]
    Search CenterWatch for drugs/clinical trials and news about ORAI1 / CRCM1 

    Transcripts
    for ORAI1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    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 plasmid: ORAI1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ORAI1 (see all 4)
    OriGene shRNA RFP: ORAI1
    OriGene siRNA: ORAI1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ORAI1
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ORAI1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ORAI1

    Additional cDNA sequence: 

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

    4 DOTS entries:

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

    24/108 AceView cDNA sequences (see all 108):

    CR618487 CA423557 W76549 BG574128 BQ055778 BI042414 AI262451 BM713220 
    CR616901 BQ230434 BI767201 CR622003 AI205571 BC075831 BM762473 BM847154 
    AL530596 BC013386 BQ061590 BC015369 BQ889865 BM559867 BM558602 BG324823 

    GeneLoc Exon Structure


    Expression
    for ORAI1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ORAI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTGTGTGAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ORAI1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryPrimary FolliclePrimary OocyteFemale Gametocytes, Germ Cells
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ORAI1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ORAI1

    SOURCE GeneReport for Unigene cluster: Hs.55148
        SABiosciences Custom PCR Arrays for ORAI1
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ORAI1

    Orthologs
    for ORAI1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ORAI1 gene from 7/23 species (see all 23)    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 88.48(n)1
    91.03(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
    		 --
    		 92(a)
    		 1 ↔ 1
    		 GL343550.1(125613-143540)
    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-F1 CG11430-PA 61.03(n)
    53.85(a)    		   37040  NM_170626.1  NP_725727.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea orai-16
    		 Protein orai
    		 30(a)
    		 1 → many
    		 III(647123-654460)


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

    Paralogs
    for ORAI1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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

    ORAI1 for paralogs           About GeneDecksing



    Genomic Variants
    for ORAI1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/316 NCBI SNPs in ORAI1 are shown (see all 316)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1871053591,2
    		--122062456(+) ATTAGC/GAGATA 1 -- us2k10--------
    rs1900389581,2
    		--122062528(+) TGTAAC/TTAACC 1 -- us2k10--------
    rs1494086691,2
    		--122062589(+) TTAAAA/TTTTAA 1 -- us2k10--------
    rs2004492081,2
    		--122062589(+) TTAAA-/TTTTAA 1 -- us2k10--------
    rs586144441,2
    		C,--122062592(+) AATTTA/TAAAAA 1 -- us2k11Minor allele frequency- T:0.00WA 2
    rs359896861,2
    		C,F,--122062593(+) ATTTTA/TAAAAA 1 -- us2k14Minor allele frequency- T:0.14NA CSA 126
    rs1485416671,2
    		--122062619(+) CTCTGC/TGGGAA 1 -- us2k10--------
    rs1170826321,2
    		F,--122062636(+) ACTTCT/CTGGGG 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs123209391,2
    		C,F,A,H,--122062722(+) CAACCT/GGCAAT 1 -- us2k123Minor allele frequency- G:0.43NS EA NA WA CSA 2344
    rs1823337791,2
    		--122062734(+) TCACAG/TGCTCG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ORAI1 (122064455 - 122080583 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ORAI1: --
    Human Gene Mutation Database (HGMD): ORAI1

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    Disorders / Diseases
    for ORAI1 gene

    (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
    ORAI1 for disorders           About GeneDecksing

    OMIM gene information: 610277   
    OMIM disorders: 612782  
    UniProtKB/Swiss-Prot: CRCM1_HUMAN, Q96D31
  • Defects in ORAI1 are the cause of immune dysfunction with T-cell inactivation due to calcium entry defect type
    • 1 (IDTICED1) [MIM:612782]. IDTICED1 is an immune disorder characterized by recurrent infections, impaired T-cell
    activation and proliferative response, decreased T-cell production of cytokines, and normal lymphocytes counts and
    serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhydrosis and non-progressive myopathy
    may be observed

    20 diseases for ORAI1:    About MalaCards
    immune dysfunction with t-cell inactivation due to calcium entry defect 1    estrogen-receptor negative breast cancer    type 2 diabetes mellitus    severe combined immunodeficiency
    combined immunodeficiency    ankylosing spondylitis    ectodermal dysplasia    diabetes mellitus
    spondylitis    nephrolithiasis    kawasaki disease    breast cancer
    immunodeficiency    myopathy    lung cancer    prostate cancer
    glioblastoma    hypoxia    retinitis    prostatitis

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

    Export disorders for ORAI1 gene to outside databases

    Publications
    for ORAI1 gene

    (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

    PubMed articles for ORAI1 gene, integrated from 9 sources (see all 125):
    (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. (2006)
    2. Junctate is a Ca2+-sensing structural component of Ora i1 and stromal interaction molecule 1 (STIM1). (PubMed id 22586105)1, 2 Srikanth S....Gwack Y. (2012)
    3. STIM2 protein mediates distinct store-dependent and store-independent modes of CRAC channel activation. (PubMed id 17905723)1, 2 Parvez S.... Penner R. (2008)
    4. Orai1 and STIM reconstitute store-operated calcium channel function. (PubMed id 16766533)1, 2 Soboloff J....Gill D.L. (2006)
    5. Amplification of CRAC current by STIM1 and CRACM1 (Orai1). (PubMed id 16733527)1, 2 Peinelt C.... Kinet J.-P. (2006)
    6. CRACM1 is a plasma membrane protein essential for store-operated Ca2+ entry. (PubMed id 16645049)1, 2 Vig M....Kinet J.-P. (2006)
    7. 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. (2006)
    8. 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. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    External Searches for ORAI1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ORAI1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84876 HGNC: 25896 AceView: FLJ14466 Ensembl:ENSG00000182500 euGenes: HUgn84876
    ECgene: ORAI1 H-InvDB: ORAI1

    Other Databases showing ORAI1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ORAI1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ORAI1 Pharmacogenomics, SNPs, Pathways
    ORAI1basehttp://bioinf.uta.fi/ORAI1base/

    Intellectual Property
    for ORAI1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ORAI1 gene:
    Search GeneIP for patents involving ORAI1

    GeneCards and IP:
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