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Aliases for CRACR2A Gene

Aliases for CRACR2A Gene

  • Calcium Release Activated Channel Regulator 2A 2 3 5
  • Ca2+ Release-Activated Ca2+ (CRAC) Channel Regulator 2A 2 3
  • Calcium Release-Activated Calcium Channel Regulator 2A 3 4
  • EF-Hand Calcium Binding Domain 4B 2 3
  • CRAC Channel Regulator 2A 3 4
  • CRAC Regulator 2A 2 3
  • EFCAB4B 3 4
  • EF-Hand Calcium-Binding Domain-Containing Protein 4B 3
  • Calcium Release-Activated Channel Regulator 2A 4

External Ids for CRACR2A Gene

Previous HGNC Symbols for CRACR2A Gene

  • EFCAB4B

Previous GeneCards Identifiers for CRACR2A Gene

  • GC12M003609
  • GC12M003641
  • GC12M003734
  • GC12M003795
  • GC12M003819

Summaries for CRACR2A Gene

GeneCards Summary for CRACR2A Gene

CRACR2A (Calcium Release Activated Channel Regulator 2A) is a Protein Coding gene. Among its related pathways are Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding and GTPase activity. An important paralog of this gene is CRACR2B.

UniProtKB/Swiss-Prot for CRACR2A Gene

  • Ca(2+)-binding protein that plays a key role in store-operated Ca(2+) entry (SOCE) in T-cells by regulating CRAC channel activation. Acts as a cytoplasmic calcium-sensor that facilitates the clustering of ORAI1 and STIM1 at the junctional regions between the plasma membrane and the endoplasmic reticulum upon low Ca(2+) concentration. It thereby regulates CRAC channel activation, including translocation and clustering of ORAI1 and STIM1. Upon increase of cytoplasmic Ca(2+) resulting from opening of CRAC channels, dissociates from ORAI1 and STIM1, thereby destabilizing the ORAI1-STIM1 complex.

Additional gene information for CRACR2A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRACR2A Gene

Genomics for CRACR2A Gene

GeneHancer (GH) Regulatory Elements for CRACR2A Gene

Promoters and enhancers for CRACR2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I003751 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 556.2 +11.6 11640 4.1 HDGF PKNOX1 FOXA2 SIN3A ZBTB7B IRF4 GLIS2 ZNF207 ZNF143 RUNX3 CRACR2A ENSG00000283138 TULP3 GC12P005652 PIR55593
GH12I004223 Enhancer 0.9 FANTOM5 Ensembl ENCODE 4.5 -459.2 -459224 1.7 MEIS2 SRF PKNOX1 SPI1 CCND2 ENSG00000255920 CCND2-AS1 CRACR2A PARP11 GC12P005657
GH12I003747 Enhancer 0.6 FANTOM5 ENCODE 4.5 +17.1 17135 0.3 FOXA2 MYC PIR48376 RNU6-174P CRACR2A PARP11
GH12I003732 Enhancer 0.5 ENCODE 5.1 +31.8 31829 0.1 ZNF217 PKNOX1 ESRRA NFIB KLF4 CRACR2A RNU6-174P PIR48376
GH12I004140 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 1.7 -377.6 -377613 3.6 HDGF PKNOX1 FOXA2 ZNF133 BATF IRF4 ZNF143 ZNF207 ATF7 ETV6 HSPA8P5 PARP11 CRACR2A CCND2 C12orf4 GC12P005650 RPL18P9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CRACR2A on UCSC Golden Path with GeneCards custom track

Genomic Locations for CRACR2A Gene

Genomic Locations for CRACR2A Gene
chr12:3,606,633-3,764,819
(GRCh38/hg38)
Size:
158,187 bases
Orientation:
Minus strand
chr12:3,715,799-3,873,985
(GRCh37/hg19)

Genomic View for CRACR2A Gene

Genes around CRACR2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRACR2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRACR2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRACR2A Gene

Proteins for CRACR2A Gene

  • Protein details for CRACR2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSW2-EFC4B_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 4B
    Protein Accession:
    Q9BSW2
    Secondary Accessions:
    • B4E1X0
    • B9EK63

    Protein attributes for CRACR2A Gene

    Size:
    395 amino acids
    Molecular mass:
    45592 Da
    Quaternary structure:
    • Interacts with ORAI1 and STIM1; the interaction is direct and takes place in absence of Ca(2+). Forms a complex with ORAI1 and STIM1 at low concentration of Ca(2+), the complex dissociates at elevated Ca(2+) concentrations. Interacts with ORAI2 and ORAI3.

    Alternative splice isoforms for CRACR2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CRACR2A Gene

Post-translational modifications for CRACR2A Gene

No Post-translational modifications

No data available for DME Specific Peptides for CRACR2A Gene

Domains & Families for CRACR2A Gene

Gene Families for CRACR2A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CRACR2A Gene

Suggested Antigen Peptide Sequences for CRACR2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BSW2

UniProtKB/Swiss-Prot:

EFC4B_HUMAN :
  • Belongs to the EFCAB4 family.
Family:
  • Belongs to the EFCAB4 family.
genes like me logo Genes that share domains with CRACR2A: view

Function for CRACR2A Gene

Molecular function for CRACR2A Gene

UniProtKB/Swiss-Prot Function:
Ca(2+)-binding protein that plays a key role in store-operated Ca(2+) entry (SOCE) in T-cells by regulating CRAC channel activation. Acts as a cytoplasmic calcium-sensor that facilitates the clustering of ORAI1 and STIM1 at the junctional regions between the plasma membrane and the endoplasmic reticulum upon low Ca(2+) concentration. It thereby regulates CRAC channel activation, including translocation and clustering of ORAI1 and STIM1. Upon increase of cytoplasmic Ca(2+) resulting from opening of CRAC channels, dissociates from ORAI1 and STIM1, thereby destabilizing the ORAI1-STIM1 complex.

Phenotypes From GWAS Catalog for CRACR2A Gene

Gene Ontology (GO) - Molecular Function for CRACR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 20418871
GO:0005515 protein binding IPI 20418871
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CRACR2A: view
genes like me logo Genes that share phenotypes with CRACR2A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CRACR2A Gene

Localization for CRACR2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRACR2A Gene

Cytoplasm.

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 CRACR2A gene
Compartment Confidence
extracellular 4
cytosol 4
nucleus 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for CRACR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA,IDA 20418871
GO:0016020 membrane HDA,IDA 19946888
GO:0035580 specific granule lumen TAS --
genes like me logo Genes that share ontologies with CRACR2A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CRACR2A Gene

Pathways & Interactions for CRACR2A Gene

genes like me logo Genes that share pathways with CRACR2A: view

Pathways by source for CRACR2A Gene

3 Reactome pathways for CRACR2A Gene

Gene Ontology (GO) - Biological Process for CRACR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002115 store-operated calcium entry IMP 20418871
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
genes like me logo Genes that share ontologies with CRACR2A: view

No data available for SIGNOR curated interactions for CRACR2A Gene

Drugs & Compounds for CRACR2A Gene

No Compound Related Data Available

Transcripts for CRACR2A Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRACR2A Gene

No ASD Table

Relevant External Links for CRACR2A Gene

GeneLoc Exon Structure for
CRACR2A
ECgene alternative splicing isoforms for
CRACR2A

Expression for CRACR2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CRACR2A Gene

Protein differential expression in normal tissues from HIPED for CRACR2A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.0), Salivary gland (13.0), Monocytes (10.3), and Brain (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CRACR2A Gene



NURSA nuclear receptor signaling pathways regulating expression of CRACR2A Gene:

CRACR2A

Evidence on tissue expression from TISSUES for CRACR2A Gene

  • Muscle(4.1)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with CRACR2A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CRACR2A Gene

Orthologs for CRACR2A Gene

This gene was present in the common ancestor of animals.

Orthologs for CRACR2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFCAB4B 33 34
  • 97.81 (n)
dog
(Canis familiaris)
Mammalia EFCAB4B 33 34
  • 85.59 (n)
cow
(Bos Taurus)
Mammalia EFCAB4B 33 34
  • 84.63 (n)
rat
(Rattus norvegicus)
Mammalia Efcab4b 33
  • 81.29 (n)
mouse
(Mus musculus)
Mammalia Efcab4b 33 34
  • 79.46 (n)
Cracr2a 16
oppossum
(Monodelphis domestica)
Mammalia EFCAB4B 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFCAB4B 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFCAB4B 33 34
  • 58.93 (n)
lizard
(Anolis carolinensis)
Reptilia EFCAB4B 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732297 33
  • 60.32 (n)
Str.19710 33
zebrafish
(Danio rerio)
Actinopterygii efcab4bb 33 34
  • 58.27 (n)
CABZ01062083.1 34
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea 4R79.2 33
  • 48.44 (n)
Species where no ortholog for CRACR2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 squirt (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)

Evolution for CRACR2A Gene

ENSEMBL:
Gene Tree for CRACR2A (if available)
TreeFam:
Gene Tree for CRACR2A (if available)

Paralogs for CRACR2A Gene

Paralogs for CRACR2A Gene

genes like me logo Genes that share paralogs with CRACR2A: view

Variants for CRACR2A Gene

Sequence variations from dbSNP and Humsavar for CRACR2A Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000029054 -- 3,732,915(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000033142 -- 3,743,243(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000070178 -- 3,725,178(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000107562 -- 3,744,429(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000112724 -- 3,614,481(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CRACR2A Gene

Variant ID Type Subtype PubMed ID
nsv832313 CNV loss 17160897
nsv582 CNV insertion 18451855
nsv557116 CNV gain 21841781
nsv483060 CNV loss 15286789
nsv468981 CNV gain 19166990
nsv1036828 CNV gain 25217958
esv3628350 CNV loss 21293372
esv3580077 CNV loss 25503493
esv2745442 CNV deletion 23290073
esv2745439 CNV deletion 23290073
esv24018 CNV loss 19812545
dgv443e212 CNV loss 25503493
dgv162e201 CNV deletion 23290073

Variation tolerance for CRACR2A Gene

Residual Variation Intolerance Score: 73.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.49; 97.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CRACR2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRACR2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRACR2A Gene

Disorders for CRACR2A Gene

Additional Disease Information for CRACR2A

No disorders were found for CRACR2A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CRACR2A Gene

Publications for CRACR2A Gene

  1. A novel EF-hand protein, CRACR2A, is a cytosolic Ca2+ sensor that stabilizes CRAC channels in T cells. (PMID: 20418871) Srikanth S … Gwack Y (Nature cell biology 2010) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. A large Rab GTPase family in a small GTPase world. (PMID: 27221160) Srikanth S … Gwack Y (Small GTPases 2017) 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CRACR2A Gene

Sources for CRACR2A Gene

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