Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	IMP	27016526
GO:0003925	Function	G protein activity	IMP	27016526
GO:0005509	Function	Calcium ion binding	IDA	20418871
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	20418871, 23088713, 25416956, 28514442, 31092558, 31515488, 32296183, 32814053, 33961781
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IDA	20418871, 30814157, 31092558
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005815	Component	Microtubule organizing center	IDA	30814157, 31092558
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	30814157
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0008104	Process	Intracellular protein localization	IMP	20418871
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0016197	Process	Endosomal transport	IDA	30814157
GO:0016787	Function	Hydrolase activity	IEA
GO:0031982	Component	Vesicle	IDA	27016526
GO:0031982	Component	Vesicle	IEA
GO:0032237	Process	Activation of store-operated calcium channel activity	IMP	20418871, 27016526
GO:0032588	Component	Trans-Golgi network membrane	IDA	27016526
GO:0033093	Component	Weibel-Palade body	IDA	31092558
GO:0034776	Process	Response to histamine	IDA	31092558
GO:0035580	Component	Specific granule lumen	TAS
GO:0042581	Component	Specific granule	IEA
GO:0045063	Process	T-helper 1 cell differentiation	IMP	29987160
GO:0046330	Process	Positive regulation of JNK cascade	IMP	27016526
GO:0046872	Function	Metal ion binding	IEA
GO:0051928	Process	Positive regulation of calcium ion transport	IEA
GO:0051928	Process	Positive regulation of calcium ion transport	IMP	20418871

MIM	HGNC	e!Ensembl
614178	28657	ENSG00000130038

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

	Reactome
			Neutrophil degranulation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CIRRHOSIS OF LIVER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIALOLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	34908525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33461604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	30679663	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	26845607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	32728162	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	GWASCAT_DG	20708005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	GWASCAT_DG	20708005		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontal Diseases	Periodontal Diseases	BEFREE	30284742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	30284742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	GWASCAT_DG	30284742		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	Pubtator	30284742	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontosis	Periodontosis	GWASCAT_DG	30284742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30464020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	30679663	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CRACR2A (calcium release activated channel regulator 2A)