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.

• not_specified (46 variants)

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. These statistics are base on transcript: NM_001286606.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1			1
missense			44	1		45
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	45	1	0

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