CRACR2B

calcium release activated channel regulator 2B, the group of EF-hand domain containing

Basic information

Region (hg38): 11:826144-831991

Previous symbols: [ "EFCAB4A" ]

Links

ENSG00000177685NCBI:283229OMIM:614177HGNC:28703Uniprot:Q8N4Y2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CRACR2B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRACR2B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
32
clinvar
1
clinvar
33
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 32 1 0

Variants in CRACR2B

This is a list of pathogenic ClinVar variants found in the CRACR2B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
11-828635-G-A not specified Uncertain significance (May 07, 2024)3269398
11-828665-G-A not specified Uncertain significance (Oct 26, 2022)2320072
11-828680-G-A not specified Uncertain significance (Apr 26, 2023)2509624
11-828684-C-G not specified Uncertain significance (Dec 20, 2022)2337788
11-828684-C-T not specified Uncertain significance (Jan 24, 2023)2478490
11-828686-C-T not specified Uncertain significance (Oct 13, 2021)2357228
11-828687-G-A not specified Likely benign (Mar 31, 2024)3269396
11-828698-C-G not specified Uncertain significance (Oct 29, 2021)2257936
11-828699-T-C not specified Uncertain significance (Aug 12, 2021)2205507
11-828701-G-A not specified Uncertain significance (Apr 13, 2022)2283644
11-828707-G-C not specified Uncertain significance (Mar 01, 2023)2467448
11-828715-G-C not specified Uncertain significance (Sep 26, 2024)3496863
11-828720-T-C not specified Uncertain significance (Nov 21, 2022)2328757
11-828741-C-T not specified Uncertain significance (Feb 13, 2023)3077208
11-828746-G-A not specified Uncertain significance (Apr 19, 2024)3269397
11-828886-A-T not specified Uncertain significance (Aug 09, 2021)2351085
11-828952-G-C not specified Uncertain significance (Jan 30, 2024)3077209
11-829372-G-A not specified Uncertain significance (Feb 27, 2024)3077210
11-829393-C-A not specified Uncertain significance (Oct 05, 2023)3077211
11-829443-G-A not specified Uncertain significance (Oct 12, 2021)2254141
11-829462-C-G not specified Uncertain significance (Dec 16, 2023)3077212
11-829471-A-C not specified Uncertain significance (Feb 02, 2022)2274944
11-829993-G-A not specified Uncertain significance (Sep 07, 2024)2406183
11-830009-G-T not specified Uncertain significance (Aug 21, 2024)3496865
11-830022-G-C not specified Uncertain significance (May 10, 2022)2288362

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CRACR2Bprotein_codingprotein_codingENST00000450448 85848
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.64e-110.02571245940511246450.000205
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.112011611.250.000008481811
Missense in Polyphen5239.9781.3007485
Synonymous-1.699071.81.250.00000391606
Loss of Function-0.4571513.21.145.64e-7162

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009980.0000993
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.0003400.000336
Middle Eastern0.000.00
South Asian0.0003730.000360
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plays a role in store-operated Ca(2+) entry (SOCE). {ECO:0000269|PubMed:20418871}.;
Pathway
Vitamin D Receptor Pathway (Consensus)

Haploinsufficiency Scores

pHI
0.202
hipred
N
hipred_score
0.180
ghis

Mouse Genome Informatics

Gene name
Cracr2b
Phenotype

Gene ontology

Biological process
store-operated calcium entry;cellular protein localization;regulation of store-operated calcium entry
Cellular component
cytoplasm
Molecular function
calcium ion binding;protein binding