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CRACR2B calcium release activated channel regulator 2B [ Homo sapiens (human) ]

Gene ID: 283229, updated on 11-Apr-2024

Summary

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Official Symbol
CRACR2Bprovided by HGNC
Official Full Name
calcium release activated channel regulator 2Bprovided by HGNC
Primary source
HGNC:HGNC:28703
See related
Ensembl:ENSG00000177685 MIM:614177; AllianceGenome:HGNC:28703
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EFCAB4A
Summary
Predicted to enable calcium ion binding activity. Involved in store-operated calcium entry. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in salivary gland (RPKM 19.1), stomach (RPKM 14.0) and 12 other tissues See more
Orthologs
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Genomic context

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Location:
11p15.5
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (826157..831991)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (877475..883426)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (827919..831991)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:811306-812046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:812047-812787 Neighboring gene ribosomal protein lateral stalk subunit P2 Neighboring gene small nucleolar RNA, H/ACA box 52 Neighboring gene Sharpr-MPRA regulatory region 11801 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4287 Neighboring gene patatin like phospholipase domain containing 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:827342-827880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:828421-828958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:828959-829498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:829499-830036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:831115-831654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:831655-832192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:834349-834888 Neighboring gene CD151 molecule (Raph blood group) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:837986-838960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:840788-841532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:841533-842278 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:842279-843022 Neighboring gene RNA polymerase II, I and III subunit L

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A novel EF-hand protein, CRACR2A, is a cytosolic Ca2+ sensor that stabilizes CRAC channels in T cells. Srikanth S, et al. Nat Cell Biol, 2010 May. PMID 20418871, Free PMC Article
  2. Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. Lee JH, et al. Respir Res, 2014 Sep 21. PMID 25241909, Free PMC Article
  3. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article
  4. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. Chen Y, et al. Mol Cell Proteomics, 2013 Oct. PMID 23824909, Free PMC Article
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Yang X, et al. Cell, 2016 Feb 11. PMID 26871637, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ46033, MGC45840, MGC88858

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in regulation of store-operated calcium entry IEA
Inferred from Electronic Annotation
more info
  
involved_in store-operated calcium entry IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
EF-hand calcium-binding domain-containing protein 4A
Names
CRAC channel regulator 2B
CRAC regulator 2B
Ca2+ release-activated Ca2+ (CRAC) channel regulator 2B
EF-hand calcium binding domain 4A
calcium release-activated calcium channel regulator 2B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001286606.2 → NP_001273535.1  EF-hand calcium-binding domain-containing protein 4A isoform 1

    See identical proteins and their annotated locations for NP_001273535.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK097334, AP006621, BC073821, BU621015, GU952799
    Consensus CDS
    CCDS65995.1
    UniProtKB/Swiss-Prot
    D5LPR2, Q8N4Y2, Q8NBW8
    Related
    ENSP00000435299.1, ENST00000525077.2
    Conserved Domains (2) summary
    pfam13499
    Location:34 → 89
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:33 → 89
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

  2. NM_173584.4 → NP_775855.3  EF-hand calcium-binding domain-containing protein 4A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    BC033196, BC073821, BG674461, BU621015, BX104079, GU952799
    Consensus CDS
    CCDS41588.1
    UniProtKB/Swiss-Prot
    Q8N4Y2
    Related
    ENSP00000409256.1, ENST00000450448.5
    Conserved Domains (2) summary
    pfam13499
    Location:34 → 89
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:33 → 89
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    826157..831991
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017582.2 → XP_016873071.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

  2. XM_047426806.1 → XP_047282762.1  EF-hand calcium-binding domain-containing protein 4A isoform X6

  3. XM_017017590.2 → XP_016873079.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

    UniProtKB/TrEMBL
    Q6ZRW4

  4. XM_047426814.1 → XP_047282770.1  EF-hand calcium-binding domain-containing protein 4A isoform X11

  5. XM_017017583.2 → XP_016873072.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

  6. XM_017017591.2 → XP_016873080.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

    UniProtKB/TrEMBL
    Q6ZRW4

  7. XM_017017587.2 → XP_016873076.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

  8. XM_017017594.2 → XP_016873083.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

    UniProtKB/TrEMBL
    Q6ZRW4

  9. XM_047426818.1 → XP_047282774.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

  10. XM_017017586.2 → XP_016873075.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

  11. XM_017017593.2 → XP_016873082.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

    UniProtKB/TrEMBL
    Q6ZRW4

  12. XM_047426809.1 → XP_047282765.1  EF-hand calcium-binding domain-containing protein 4A isoform X8

  13. XM_047426812.1 → XP_047282768.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

  14. XM_017017584.2 → XP_016873073.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

  15. XM_047426807.1 → XP_047282763.1  EF-hand calcium-binding domain-containing protein 4A isoform X6

  16. XM_047426808.1 → XP_047282764.1  EF-hand calcium-binding domain-containing protein 4A isoform X8

  17. XM_047426810.1 → XP_047282766.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

  18. XM_047426804.1 → XP_047282760.1  EF-hand calcium-binding domain-containing protein 4A isoform X4

  19. XM_047426816.1 → XP_047282772.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

  20. XM_047426820.1 → XP_047282776.1  EF-hand calcium-binding domain-containing protein 4A isoform X14

  21. XM_047426823.1 → XP_047282779.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

    UniProtKB/Swiss-Prot
    D5LPR2, Q8N4Y2, Q8NBW8

  22. XM_047426826.1 → XP_047282782.1  EF-hand calcium-binding domain-containing protein 4A isoform X17

  23. XM_017017585.2 → XP_016873074.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

  24. XM_047426811.1 → XP_047282767.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

  25. XM_017017592.2 → XP_016873081.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

    UniProtKB/TrEMBL
    Q6ZRW4

  26. XM_047426815.1 → XP_047282771.1  EF-hand calcium-binding domain-containing protein 4A isoform X11

  27. XM_047426805.1 → XP_047282761.1  EF-hand calcium-binding domain-containing protein 4A isoform X4

  28. XM_047426817.1 → XP_047282773.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

  29. XM_047426821.1 → XP_047282777.1  EF-hand calcium-binding domain-containing protein 4A isoform X14

  30. XM_047426824.1 → XP_047282780.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

    UniProtKB/Swiss-Prot
    D5LPR2, Q8N4Y2, Q8NBW8

  31. XM_017017588.2 → XP_016873077.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

  32. XM_017017595.2 → XP_016873084.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

    UniProtKB/TrEMBL
    Q6ZRW4

  33. XM_047426825.1 → XP_047282781.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

    UniProtKB/Swiss-Prot
    D5LPR2, Q8N4Y2, Q8NBW8

  34. XM_017017599.2 → XP_016873088.1  EF-hand calcium-binding domain-containing protein 4A isoform X17

    UniProtKB/Swiss-Prot
    Q8N4Y2
    Related
    ENSP00000432334.1, ENST00000528542.6
    Conserved Domains (2) summary
    pfam13499
    Location:34 → 89
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:33 → 89
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

  35. XM_017017597.2 → XP_016873086.1  EF-hand calcium-binding domain-containing protein 4A isoform X5

  36. XM_047426813.1 → XP_047282769.1  EF-hand calcium-binding domain-containing protein 4A isoform X18

  37. XM_011520011.2 → XP_011518313.1  EF-hand calcium-binding domain-containing protein 4A isoform X7

    See identical proteins and their annotated locations for XP_011518313.1

    Conserved Domains (1) summary
    TIGR04376
    Location:289 → 388
    TIGR04376; TIGR04376 family protein

  38. XM_011520019.2 → XP_011518321.1  EF-hand calcium-binding domain-containing protein 4A isoform X9

    Conserved Domains (1) summary
    TIGR04376
    Location:289 → 388
    TIGR04376; TIGR04376 family protein

  39. XM_017017598.2 → XP_016873087.1  EF-hand calcium-binding domain-containing protein 4A isoform X19

  40. XM_017017589.2 → XP_016873078.1  EF-hand calcium-binding domain-containing protein 4A isoform X2

  41. XM_047426819.1 → XP_047282775.1  EF-hand calcium-binding domain-containing protein 4A isoform X13

  42. XM_047426822.1 → XP_047282778.1  EF-hand calcium-binding domain-containing protein 4A isoform X15

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    877475..883426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368491.1 → XP_054224466.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

  2. XM_054368487.1 → XP_054224462.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

  3. XM_054368488.1 → XP_054224463.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

  4. XM_054368497.1 → XP_054224472.1  EF-hand calcium-binding domain-containing protein 4A isoform X6

  5. XM_054368511.1 → XP_054224486.1  EF-hand calcium-binding domain-containing protein 4A isoform X11

  6. XM_054368517.1 → XP_054224492.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

  7. XM_054368525.1 → XP_054224500.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

    UniProtKB/Swiss-Prot
    D5LPR2, Q8N4Y2, Q8NBW8

  8. XM_054368527.1 → XP_054224502.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

    UniProtKB/Swiss-Prot
    D5LPR2, Q8N4Y2, Q8NBW8

  9. XM_054368492.1 → XP_054224467.1  EF-hand calcium-binding domain-containing protein 4A isoform X4

  10. XM_054368486.1 → XP_054224461.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

  11. XM_054368521.1 → XP_054224496.1  EF-hand calcium-binding domain-containing protein 4A isoform X14

  12. XM_054368526.1 → XP_054224501.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

    UniProtKB/Swiss-Prot
    D5LPR2, Q8N4Y2, Q8NBW8

  13. XM_054368528.1 → XP_054224503.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

    UniProtKB/Swiss-Prot
    D5LPR2, Q8N4Y2, Q8NBW8

  14. XM_054368509.1 → XP_054224484.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

  15. XM_054368512.1 → XP_054224487.1  EF-hand calcium-binding domain-containing protein 4A isoform X11

  16. XM_054368494.1 → XP_054224469.1  EF-hand calcium-binding domain-containing protein 4A isoform X4

  17. XM_054368515.1 → XP_054224490.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

  18. XM_054368504.1 → XP_054224479.1  EF-hand calcium-binding domain-containing protein 4A isoform X8

  19. XM_054368516.1 → XP_054224491.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

  20. XM_054368524.1 → XP_054224499.1  EF-hand calcium-binding domain-containing protein 4A isoform X16

    UniProtKB/Swiss-Prot
    D5LPR2, Q8N4Y2, Q8NBW8

  21. XM_054368510.1 → XP_054224485.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

  22. XM_054368502.1 → XP_054224477.1  EF-hand calcium-binding domain-containing protein 4A isoform X8

  23. XM_054368513.1 → XP_054224488.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

  24. XM_054368507.1 → XP_054224482.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

  25. XM_054368519.1 → XP_054224494.1  EF-hand calcium-binding domain-containing protein 4A isoform X14

  26. XM_054368498.1 → XP_054224473.1  EF-hand calcium-binding domain-containing protein 4A isoform X6

  27. XM_054368514.1 → XP_054224489.1  EF-hand calcium-binding domain-containing protein 4A isoform X12

  28. XM_054368520.1 → XP_054224495.1  EF-hand calcium-binding domain-containing protein 4A isoform X14

  29. XM_054368522.1 → XP_054224497.1  EF-hand calcium-binding domain-containing protein 4A isoform X14

  30. XM_054368530.1 → XP_054224505.1  EF-hand calcium-binding domain-containing protein 4A isoform X17

  31. XM_054368493.1 → XP_054224468.1  EF-hand calcium-binding domain-containing protein 4A isoform X4

  32. XM_054368485.1 → XP_054224460.1  EF-hand calcium-binding domain-containing protein 4A isoform X2

  33. XM_054368489.1 → XP_054224464.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

  34. XM_054368503.1 → XP_054224478.1  EF-hand calcium-binding domain-containing protein 4A isoform X8

  35. XM_054368490.1 → XP_054224465.1  EF-hand calcium-binding domain-containing protein 4A isoform X3

  36. XM_054368499.1 → XP_054224474.1  EF-hand calcium-binding domain-containing protein 4A isoform X6

  37. XM_054368495.1 → XP_054224470.1  EF-hand calcium-binding domain-containing protein 4A isoform X4

  38. XM_054368508.1 → XP_054224483.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

  39. XM_054368529.1 → XP_054224504.1  EF-hand calcium-binding domain-containing protein 4A isoform X20

  40. XM_054368531.1 → XP_054224506.1  EF-hand calcium-binding domain-containing protein 4A isoform X17

  41. XM_054368532.1 → XP_054224507.1  EF-hand calcium-binding domain-containing protein 4A isoform X17

  42. XM_054368496.1 → XP_054224471.1  EF-hand calcium-binding domain-containing protein 4A isoform X5

  43. XM_054368500.1 → XP_054224475.1  EF-hand calcium-binding domain-containing protein 4A isoform X7

  44. XM_054368505.1 → XP_054224480.1  EF-hand calcium-binding domain-containing protein 4A isoform X9

  45. XM_054368501.1 → XP_054224476.1  EF-hand calcium-binding domain-containing protein 4A isoform X8

  46. XM_054368506.1 → XP_054224481.1  EF-hand calcium-binding domain-containing protein 4A isoform X10

  47. XM_054368518.1 → XP_054224493.1  EF-hand calcium-binding domain-containing protein 4A isoform X13

  48. XM_054368523.1 → XP_054224498.1  EF-hand calcium-binding domain-containing protein 4A isoform X15

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N4Y2.3 GenPept UniProtKB/Swiss-Prot:Q8N4Y2

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