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

ENSG00000177685 ∙ NCBI:283229 ∙ OMIM:614177 ∙ HGNC:28703 ∙ Uniprot:Q8N4Y2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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	1		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)
11-828665-G-A		not specified	Uncertain significance (Oct 26, 2022)
11-828680-G-A		not specified	Uncertain significance (Apr 26, 2023)
11-828684-C-G		not specified	Uncertain significance (Dec 20, 2022)
11-828684-C-T		not specified	Uncertain significance (Jan 24, 2023)
11-828686-C-T		not specified	Uncertain significance (Oct 13, 2021)
11-828687-G-A		not specified	Likely benign (Mar 31, 2024)
11-828698-C-G		not specified	Uncertain significance (Oct 29, 2021)
11-828699-T-C		not specified	Uncertain significance (Aug 12, 2021)
11-828701-G-A		not specified	Uncertain significance (Apr 13, 2022)
11-828707-G-C		not specified	Uncertain significance (Mar 01, 2023)
11-828715-G-C		not specified	Uncertain significance (Sep 26, 2024)
11-828720-T-C		not specified	Uncertain significance (Nov 21, 2022)
11-828741-C-T		not specified	Uncertain significance (Feb 13, 2023)
11-828746-G-A		not specified	Uncertain significance (Apr 19, 2024)
11-828886-A-T		not specified	Uncertain significance (Aug 09, 2021)
11-828952-G-C		not specified	Uncertain significance (Jan 30, 2024)
11-829372-G-A		not specified	Uncertain significance (Feb 27, 2024)
11-829393-C-A		not specified	Uncertain significance (Oct 05, 2023)
11-829443-G-A		not specified	Uncertain significance (Oct 12, 2021)
11-829462-C-G		not specified	Uncertain significance (Dec 16, 2023)
11-829471-A-C		not specified	Uncertain significance (Feb 02, 2022)
11-829993-G-A		not specified	Uncertain significance (Sep 07, 2024)
11-830009-G-T		not specified	Uncertain significance (Aug 21, 2024)
11-830022-G-C		not specified	Uncertain significance (May 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CRACR2B	protein_coding	protein_coding	ENST00000450448	8	5848

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.64e-11	0.0257	124594	0	51	124645	0.000205

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.11	201	161	1.25	0.00000848	1811
Missense in Polyphen		52	39.978	1.3007		485
Synonymous	-1.69	90	71.8	1.25	0.00000391	606
Loss of Function	-0.457	15	13.2	1.14	5.64e-7	162

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000998	0.0000993
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000340	0.000336
Middle Eastern	0.00	0.00
South Asian	0.000373	0.000360
Other	0.00	0.00

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

Mouse Genome Informatics

• Gene name: Cracr2b

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