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-Containing Protein 4A 3 4
  • EF-Hand Calcium Binding Domain 4A 2 3
  • CRAC Channel Regulator 2B 3 4
  • CRAC Regulator 2B 2 3
  • EFCAB4A 3 4
  • Calcium Release-Activated Channel Regulator 2B 4
  • MGC45840 2
  • CRACR2B 5

External Ids for CRACR2B Gene

Previous HGNC Symbols for CRACR2B Gene

  • EFCAB4A

Previous GeneCards Identifiers for CRACR2B Gene

  • GC11P000827
  • GC11P000852
  • GC11P000859
  • GC11P000866
  • GC11P000880
  • GC11P000830
  • GC11P000844
  • GC11P000893

Summaries for CRACR2B Gene

GeneCards Summary for CRACR2B Gene

CRACR2B (Calcium Release Activated Channel Regulator 2B) is a Protein Coding gene. Diseases associated with CRACR2B include Cardiomyopathy, Dilated, 1Ee and Cardiomyopathy, Familial Hypertrophic, 13. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CRACR2A.

UniProtKB/Swiss-Prot Summary for CRACR2B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CRACR2B Gene

Genomics for CRACR2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CRACR2B 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 CRACR2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CRACR2B

Genomic Locations for CRACR2B Gene

Latest Assembly
chr11:825,558-831,991
(GRCh38/hg38)
Size:
6,434 bases
Orientation:
Plus strand

Previous Assembly
chr11:827,919-831,991
(GRCh37/hg19 by Entrez Gene)
Size:
4,073 bases
Orientation:
Plus strand

chr11:826,144-831,991
(GRCh37/hg19 by Ensembl)
Size:
5,848 bases
Orientation:
Plus strand

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CRACR2B Gene

GenScript: Design optimal peptide antigens:
  • Calcium release-activated calcium channel regulator 2B (EFC4A_HUMAN)

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRACR2B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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
plasma membrane 1
extracellular 1
endoplasmic reticulum 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

PathCards logo

SuperPathways for CRACR2B Gene

No Data Available

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

mRNA/cDNA for CRACR2B Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRACR2B

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

Expression for CRACR2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for CRACR2B Gene



Protein tissue co-expression partners for CRACR2B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CRACR2B

Evidence on tissue expression from TISSUES for CRACR2B Gene

  • Pancreas(4.3)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with CRACR2B: view

Primer products for research

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 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia EFCAB4A 30 31
  • 82.71 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EFCAB4A 30 31
  • 79.25 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Efcab4a 30 31
  • 78.91 (n)
OneToOne
Cracr2b 17
Rat
(Rattus norvegicus)
Mammalia Efcab4a 30
  • 78.52 (n)
Oppossum
(Monodelphis domestica)
Mammalia EFCAB4A 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EFCAB4A 31
  • 30 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EFCAB4A 31
  • 16 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia efcab4a 30
  • 60.57 (n)
Zebrafish
(Danio rerio)
Actinopterygii efcab4a 30 31
  • 54.68 (n)
OneToOne
Species where no ortholog for CRACR2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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 CRACR2B Gene

ENSEMBL:
Gene Tree for CRACR2B (if available)
TreeFam:
Gene Tree for CRACR2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CRACR2B: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CRACR2B Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs28558789 - p.Lys153Glu
rs35567200 - p.Gly173Ser
rs4075289 - p.Ser248Ile
rs7126805 - p.Arg77Gln

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CRACR2B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for CRACR2B Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CRACR2B Gene

MalaCards: The human disease database

(3) MalaCards diseases for CRACR2B Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CRACR2B

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

No data available for 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. (PMID: 31753913) Kim JJ … Miller KM (Genes & development 2019) 3

Products for CRACR2B Gene

Sources for CRACR2B Gene