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CRACR2A calcium release activated channel regulator 2A [ Homo sapiens (human) ]

Gene ID: 84766, updated on 1-Aug-2020

Summary

Official Symbol
CRACR2Aprovided by HGNC
Official Full Name
calcium release activated channel regulator 2Aprovided by HGNC
Primary source
HGNC:HGNC:28657
See related
Ensembl:ENSG00000130038 MIM:614178
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
EFCAB4B
Expression
Broad expression in salivary gland (RPKM 9.7), colon (RPKM 7.2) and 16 other tissues See more
Orthologs

Genomic context

See CRACR2A in Genome Data Viewer
Location:
12p13.32
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (3613366..3753218, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (3722122..3862366, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene protein arginine methyltransferase 8 Neighboring gene ribosomal protein S26 pseudogene 44 Neighboring gene thyroid cancer-associated transcript 155 Neighboring gene RNA, U6 small nuclear 174, pseudogene Neighboring gene uncharacterized LOC107984495 Neighboring gene poly(ADP-ribose) polymerase family member 11 Neighboring gene OTUD4 pseudogene 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response.
NHGRI GWA Catalog
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
NHGRI GWA Catalog
Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4266, FLJ33046, FLJ33805, DKFZp686G13246

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of store-operated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of calcium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
store-operated calcium entry IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
specific granule lumen TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001144958.2NP_001138430.1  EF-hand calcium-binding domain-containing protein 4B isoform a

    See identical proteins and their annotated locations for NP_001138430.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AK304017, DB214079
    Consensus CDS
    CCDS44803.1
    UniProtKB/Swiss-Prot
    Q9BSW2
    Related
    ENSP00000409382.2, ENST00000440314.7
    Conserved Domains (5) summary
    smart00175
    Location:546709
    RAB; Rab subfamily of small GTPases
    cd00154
    Location:546704
    Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
    pfam13499
    Location:55109
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:54114
    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 ...
    cl23720
    Location:226313
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  2. NM_032680.4NP_116069.1  EF-hand calcium-binding domain-containing protein 4B isoform c

    See identical proteins and their annotated locations for NP_116069.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    BC004524, DB214079
    Consensus CDS
    CCDS8522.1
    UniProtKB/Swiss-Prot
    Q9BSW2
    Related
    ENSP00000252322.1, ENST00000252322.1
    Conserved Domains (2) summary
    cl25732
    Location:201370
    SMC_N; RecF/RecN/SMC N terminal domain
    cl28446
    Location:33113
    PRK12309; transaldolase/EF-hand domain-containing protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    3613366..3753218 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521034.3XP_011519336.1  EF-hand calcium-binding domain-containing protein 4B isoform X1

    See identical proteins and their annotated locations for XP_011519336.1

    Conserved Domains (5) summary
    smart00175
    Location:547710
    RAB; Rab subfamily of small GTPases
    cd00154
    Location:547705
    Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
    pfam13499
    Location:55109
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:54114
    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 ...
    cl23720
    Location:226313
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  2. XM_006719021.3XP_006719084.1  EF-hand calcium-binding domain-containing protein 4B isoform X1

    See identical proteins and their annotated locations for XP_006719084.1

    Conserved Domains (5) summary
    smart00175
    Location:547710
    RAB; Rab subfamily of small GTPases
    cd00154
    Location:547705
    Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
    pfam13499
    Location:55109
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:54114
    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 ...
    cl23720
    Location:226313
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  3. XM_011521036.3XP_011519338.1  EF-hand calcium-binding domain-containing protein 4B isoform X1

    See identical proteins and their annotated locations for XP_011519338.1

    Conserved Domains (5) summary
    smart00175
    Location:547710
    RAB; Rab subfamily of small GTPases
    cd00154
    Location:547705
    Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
    pfam13499
    Location:55109
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:54114
    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 ...
    cl23720
    Location:226313
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  4. XM_011521038.2XP_011519340.1  EF-hand calcium-binding domain-containing protein 4B isoform X2

    See identical proteins and their annotated locations for XP_011519340.1

    Conserved Domains (2) summary
    smart00175
    Location:308471
    RAB; Rab subfamily of small GTPases
    cd00154
    Location:308466
    Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)
  5. XM_011521037.2XP_011519339.1  EF-hand calcium-binding domain-containing protein 4B isoform X2

    See identical proteins and their annotated locations for XP_011519339.1

    Conserved Domains (2) summary
    smart00175
    Location:308471
    RAB; Rab subfamily of small GTPases
    cd00154
    Location:308466
    Rab; Ras-related in brain (Rab) family of small guanosine triphosphatases (GTPases)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001144959.1: Suppressed sequence

    Description
    NM_001144959.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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