CRACR2A (calcium release activated channel regulator 2A)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 84766
Gene name Calcium release activated channel regulator 2A
Gene symbol CRACR2A
Synonyms (NCBI Gene)
EFCAB4BRAB46
Chromosome 12
Chromosome location 12p13.32
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (46)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 27016526
GO:0000139 Component Golgi membrane IEA
GO:0000166 Function Nucleotide binding IEA
GO:0001772 Component Immunological synapse IDA 27016526
GO:0002115 Process Store-operated calcium entry IMP 20418871
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614178 28657 ENSG00000130038
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BSW2
Protein name EF-hand calcium-binding domain-containing protein 4B (Calcium release-activated calcium channel regulator 2A) (CRAC channel regulator 2A) (Calcium release-activated channel regulator 2A) (Ras-related protein Rab-46) (EC 3.6.5.2)
Protein function [Isoform 1]: Ca(2+)-binding protein that plays a key role in store-operated Ca(2+) entry (SOCE) in T-cells by regulating CRAC channel activation. Acts as a cytoplasmic calcium-sensor that facilitates the clustering of ORAI1 and STIM1 at the junc
PDB 6PSD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13499 EF-hand_7 52 → 114 EF-hand domain pair Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expressed in the Jurkat T-cell line. {ECO:0000269|PubMed:27016526}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed in endothelial cells (PubMed:25475730). Expressed in Weibel-Palade bodies (which are P-selectin/SELP negative)
Sequence 
MAAPDGRVVSRPQRLGQGSGQGPKGSGACLHPLDSLEQKETQEQTSGQLVMLRKAQEFFQ
TCDAEGKGFIARKDMQRLHKELPLSLEELEDVFDALDADGNGYLTPQEFTTGFSHFFFSQ
NNPSQEDAGEQVAQRHEEKVYLSRGDEDLGDMGEDEEAQFRMLMDRLGAQKVLEDESDVK
QLWLQLKKEEPHLLSNFEDFLTRIISQLQEAHEEKNELECALKRKIAAYDEEIQHLYEEM
EQQIKSEKEQFLLKDTERFQARSQELEQKLLCKEQELEQLTQKQKRLEGQCTALHHDKHE
TKAENTKLKLTNQELARELERTSWELQDAQQQLESLQQEACKLHQEKEMEVYRVTESLQR
EKAGLLKQLDFLRCVGGHWPVLRAPPRSLGSEGPV
Sequence length 395
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Neutrophil degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs1945393506, rs1944859758 -
Malignant lymphoma, large B-cell, diffuse Benign rs242017 RCV005927758
Show/Hide Text Mining Associations (18)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Telangiectasia Associate 34908525
Breast Neoplasms Associate 33461604
Chest Pain Associate 34908525
Familial Primary Pulmonary Hypertension Associate 30679663
Fatty Liver Alcoholic Associate 26845607
Fibrosis Associate 26845607
Hypospadias Associate 32728162
Inflammation Associate 20708005
Late Onset Disorders Associate 34908525
Lymphopenia Associate 34908525