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

Gene ID: 283229, updated on 25-Nov-2021

Summary

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
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
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

See CRACR2B in Genome Data Viewer
Location:
11p15.5
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (825558..831991)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (827919..831991)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes 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 patatin like phospholipase domain containing 2 Neighboring gene CD151 molecule (Raph blood group) Neighboring gene RNA polymerase II, I and III subunit L

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 cellular protein localization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of store-operated calcium entry IEA
Inferred from Electronic Annotation
more info
 
involved_in store-operated calcium entry IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in store-operated calcium entry IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001286606.2NP_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
    Q8N4Y2
    Related
    ENSP00000435299.1, ENST00000525077.2
    Conserved Domains (2) summary
    pfam13499
    Location:3489
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:3389
    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_173584.4NP_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:3489
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:3389
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    825558..831991
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

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

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

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

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

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

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

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

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

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

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

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

  14. XM_017017599.1XP_016873088.1  EF-hand calcium-binding domain-containing protein 4A isoform X9

    UniProtKB/Swiss-Prot
    Q8N4Y2
    Related
    ENSP00000432334.1, ENST00000528542.6
    Conserved Domains (2) summary
    pfam13499
    Location:3489
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:3389
    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 ...
  15. XM_017017581.1XP_016873070.1  EF-hand calcium-binding domain-containing protein 4A isoform X1

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

  17. XM_011520011.1XP_011518313.1  EF-hand calcium-binding domain-containing protein 4A isoform X6

    See identical proteins and their annotated locations for XP_011518313.1

    Conserved Domains (1) summary
    TIGR04376
    Location:289388
    TIGR04376; TIGR04376 family protein
  18. XM_011520019.1XP_011518321.1  EF-hand calcium-binding domain-containing protein 4A isoform X7

    Conserved Domains (1) summary
    TIGR04376
    Location:289388
    TIGR04376; TIGR04376 family protein
  19. XM_017017598.1XP_016873087.1  EF-hand calcium-binding domain-containing protein 4A isoform X8

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

  21. XM_017017596.1XP_016873085.1  EF-hand calcium-binding domain-containing protein 4A isoform X4

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