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Aliases for CRACR2B Gene

Aliases for CRACR2B Gene

  • Calcium Release Activated Channel Regulator 2B 2 3 5
  • Ca2+ Release-Activated Ca2+ (CRAC) Channel Regulator 2B 2 3
  • Calcium Release-Activated Calcium Channel Regulator 2B 3 4
  • EF-Hand Calcium Binding Domain 4A 2 3
  • CRAC Channel Regulator 2B 3 4
  • CRAC Regulator 2B 2 3
  • EFCAB4A 3 4
  • EF-Hand Calcium-Binding Domain-Containing Protein 4A 3
  • Calcium Release-Activated Channel Regulator 2B 4

External Ids for CRACR2B Gene

Previous HGNC Symbols for CRACR2B Gene

  • EFCAB4A

Summaries for CRACR2B Gene

GeneCards Summary for CRACR2B Gene

CRACR2B (Calcium Release Activated Channel Regulator 2B) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CRACR2A.

UniProtKB/Swiss-Prot for CRACR2B Gene

  • Plays a role in store-operated Ca(2+) entry (SOCE).

Additional gene information for CRACR2B 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 CRACR2B Gene

Genomics for CRACR2B Gene

Regulatory Elements for CRACR2B Gene

Enhancers for CRACR2B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H000824 1.3 ENCODE dbSUPER 9.5 +1.2 1157 6.4 HDGF PKNOX1 ARID4B SIN3A DMAP1 GLIS2 ZNF143 ZNF207 ATF7 SP3 CD151 ENSG00000255108 RPLP2 CRACR2B LOC171391 CHID1 POLR2L B4GALNT4 PIR51142
GH11H000818 1.3 ENCODE dbSUPER 7.7 -5.6 -5582 4.6 PKNOX1 FOXA2 ATF1 ARID4B SIN3A DMAP1 YY1 ZNF121 GLIS2 ZNF207 RPLP2 ENSG00000255108 LOC171391 TMEM80 RIC8A PIDD1 BET1L SNORA52 ENSG00000255158 PHRF1
GH11H000807 1.4 ENCODE dbSUPER 5.2 -15.2 -15157 6.2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 RPLP2 ENSG00000255108 TMEM80 PIDD1 ENSG00000255158 PHRF1 ENSG00000255142 MOB2 RIC8A BET1L
GH11H000794 1.3 ENCODE dbSUPER 4.9 -29.8 -29820 4.8 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF766 GLIS2 ELK1 ZNF143 MOB2 TMEM80 CD151 EPS8L2 ENSG00000255108 PIDD1 CRACR2B PANO1 GC11P000798
GH11H000788 1.1 Ensembl ENCODE 4.9 -36.3 -36283 3.4 ZSCAN4 ZNF76 RARA ZNF121 GLIS2 ZNF143 KLF7 RCOR1 RUNX3 SP3 ENSG00000255108 LOC171391 TMEM80 PIDD1 CRACR2B CEND1 ENSG00000255142
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRACR2B on UCSC Golden Path with GeneCards custom track

Promoters for CRACR2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000035696 1056 801 HDGF PKNOX1 ZFP64 ARID4B DMAP1 GLIS2 ZNF143 ZNF207 SP5 MXD4

Genomic Locations for CRACR2B Gene

Genomic Locations for CRACR2B Gene
chr11:826,144-831,991
(GRCh38/hg38)
Size:
5,848 bases
Orientation:
Plus strand
chr11:826,144-831,991
(GRCh37/hg19)

Genomic View for CRACR2B Gene

Genes around CRACR2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRACR2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRACR2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRACR2B Gene

Proteins for CRACR2B Gene

  • Protein details for CRACR2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4Y2-EFC4A_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 4A
    Protein Accession:
    Q8N4Y2
    Secondary Accessions:
    • D5LPR2
    • Q8NBW8

    Protein attributes for CRACR2B Gene

    Size:
    399 amino acids
    Molecular mass:
    44956 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CRACR2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CRACR2B Gene

Post-translational modifications for CRACR2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CRACR2B Gene

Domains & Families for CRACR2B Gene

Gene Families for CRACR2B Gene

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

Protein Domains for CRACR2B Gene

Suggested Antigen Peptide Sequences for CRACR2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N4Y2

UniProtKB/Swiss-Prot:

EFC4A_HUMAN :
  • Belongs to the EFCAB4 family.
Family:
  • Belongs to the EFCAB4 family.
genes like me logo Genes that share domains with CRACR2B: view

Function for CRACR2B Gene

Molecular function for CRACR2B Gene

UniProtKB/Swiss-Prot Function:
Plays a role in store-operated Ca(2+) entry (SOCE).

Phenotypes From GWAS Catalog for CRACR2B Gene

Gene Ontology (GO) - Molecular Function for CRACR2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CRACR2B: view
genes like me logo Genes that share phenotypes with CRACR2B: view

Animal Model 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 CRACR2B Gene

Localization for CRACR2B Gene

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 CRACR2B gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for CRACR2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with CRACR2B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for CRACR2B Gene

Pathways & Interactions for CRACR2B Gene

SuperPathways for CRACR2B Gene

No Data Available

Interacting Proteins for CRACR2B Gene

Gene Ontology (GO) - Biological Process for CRACR2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002115 store-operated calcium entry IMP 20418871
GO:0034613 cellular protein localization IEA --
GO:2001256 regulation of store-operated calcium entry IEA --
genes like me logo Genes that share ontologies with CRACR2B: view

No data available for Pathways by source and SIGNOR curated interactions for CRACR2B Gene

Drugs & Compounds for CRACR2B Gene

No Compound Related Data Available

Transcripts for CRACR2B Gene

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRACR2B Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: - - - -
SP2: -
SP3: - - -
SP4: -
SP5:
SP6:
SP7: -
SP8: -
SP9:

Relevant External Links for CRACR2B Gene

GeneLoc Exon Structure for
CRACR2B
ECgene alternative splicing isoforms for
CRACR2B

Expression for CRACR2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CRACR2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CRACR2B Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CRACR2B Gene



Protein tissue co-expression partners for CRACR2B Gene

NURSA nuclear receptor signaling pathways regulating expression of CRACR2B Gene:

CRACR2B

Evidence on tissue expression from TISSUES for CRACR2B Gene

  • Pancreas(4.3)
  • Blood(4)
genes like me logo Genes that share expression patterns with CRACR2B: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CRACR2B Gene

Orthologs for CRACR2B Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRACR2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFCAB4A 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFCAB4A 33 34
  • 82.71 (n)
cow
(Bos Taurus)
Mammalia EFCAB4A 33 34
  • 79.25 (n)
mouse
(Mus musculus)
Mammalia Efcab4a 33 34
  • 78.91 (n)
Cracr2b 16
rat
(Rattus norvegicus)
Mammalia LOC100911692 33
  • 78.52 (n)
oppossum
(Monodelphis domestica)
Mammalia EFCAB4A 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFCAB4A 34
  • 30 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFCAB4A 34
  • 16 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab4a 33
  • 60.57 (n)
zebrafish
(Danio rerio)
Actinopterygii efcab4a 33 34
  • 54.68 (n)
Species where no ortholog for CRACR2B 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CRACR2B Gene

ENSEMBL:
Gene Tree for CRACR2B (if available)
TreeFam:
Gene Tree for CRACR2B (if available)

Paralogs for CRACR2B Gene

Paralogs for CRACR2B Gene

genes like me logo Genes that share paralogs with CRACR2B: view

Variants for CRACR2B Gene

Sequence variations from dbSNP and Humsavar for CRACR2B Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121918260 Pathogenic 823,801(+) ACTCG(C/T)AGCTG upstream-variant-2KB, reference, stop-gained
rs397514625 Pathogenic 823,579(+) TCTGC(A/C)GCGGA upstream-variant-2KB, reference, missense
rs777539013 Pathogenic 823,589(+) AACGG(C/T)GCGCG upstream-variant-2KB, splice-donor-variant
rs796065303 Pathogenic 823,744(+) GCCCC(-/C)ACGGC upstream-variant-2KB, reference, frameshift-variant
rs796065304 Pathogenic 823,783(+) GCGCC(-/C)AAGCG upstream-variant-2KB, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for CRACR2B Gene

Variant ID Type Subtype PubMed ID
nsv951272 CNV deletion 24416366
nsv8759 CNV gain 18304495
nsv832044 CNV loss 17160897
nsv552878 CNV loss 21841781
nsv552877 CNV loss 21841781
nsv552876 CNV gain 21841781
nsv552875 CNV loss 21841781
nsv552874 CNV gain 21841781
nsv552871 CNV loss 21841781
nsv482154 CNV gain 20164927
nsv469923 CNV loss 18288195
nsv1159791 CNV deletion 26073780
nsv1048774 CNV gain 25217958
nsv1040044 CNV gain+loss 25217958
esv2759794 CNV loss 17122850
dgv182e199 CNV deletion 23128226
dgv1526n54 CNV gain 21841781
dgv1013n100 CNV gain 25217958

Variation tolerance for CRACR2B Gene

Residual Variation Intolerance Score: 83.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRACR2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRACR2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRACR2B Gene

Disorders for CRACR2B Gene

Relevant External Links for CRACR2B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRACR2B

No disorders were found for CRACR2B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CRACR2B Gene

Publications for CRACR2B 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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for CRACR2B Gene

Sources for CRACR2B Gene

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