CRACR2A (calcium release activated channel regulator 2A)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84766
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium release activated channel regulator 2A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRACR2A
Synonyms (NCBI Gene) Gene synonyms aliases
EFCAB4B, RAB46
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.32
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0002115 Process Store-operated calcium entry IMP 20418871
GO:0002250 Process Adaptive immune response IEA
GO:0005509 Function Calcium ion binding IDA 20418871
GO:0005515 Function Protein binding IPI 20418871, 23088713, 25416956, 31515488, 32296183, 32814053
GO:0005576 Component Extracellular region TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614178 28657 ENSG00000130038
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Periodontitis Periodontitis rs28937571, rs104894211, rs587777534 30284742
Show/Hide Text Mining Associations (18)
Associations from Text Mining
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