ORAI2

protein-coding

ORAI calcium release-activated calcium modulator 2, the group of ORAI calcium release-activated calcium modulators

Gene summary

Enables store-operated calcium channel activity. Involved in store-operated calcium entry. Located in several cellular components, including cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C7orf19
TMEM142B

MANE transcript

NM_001126340.3

Inheritance

—

ClinVar variants

U:37B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.29

Max pathogenic AF

—

Genomic locus

chr7:102,433,106-102,456,825

External References & Databases

Ensembl (ENSG00000160991)

Transcript & Mutation Effects

hg38 • Region Span ~23.7 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ORAI2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 36

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001126340.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			36 clinvar	1 clinvar		37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	37	1	1	39

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001126340.3	RefSeq	NP_001119812.1	2	MANE Select
ENST00000495936.7	Ensembl	ENSP00000420178.2	2	MANE Select
NM_001271818.2	RefSeq	NP_001258747.1	2	Standard
NM_001271819.2	RefSeq	NP_001258748.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Calcium signaling pathway - Homo sapiens (human)
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
Signaling by the B Cell Receptor (BCR)
Immune System
Adaptive Immune System

Biological Process

store-operated calcium entry
calcium ion transmembrane transport

Molecular Function

protein binding
store-operated calcium channel activity

Cellular Component

membrane
integral component of membrane
growth cone

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000356387
Coding exons: 2
Length: 23716
Individuals with no LoFs: 125717
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 125721
p: 0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.45	114	167	0.683	0.0000112	1635
Missense (PolyPhen)		49	87.368	0.56085		914
Synonymous	-0.220	81	78.5	1.03	0.00000574	550
Loss of Function	1.72	2	6.87	0.291	2.98e-7	70

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000038	0.000035	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Ca(2+) release-activated Ca(2+)-like (CRAC-like) channel subunit which mediates Ca(2+) influx and increase in Ca(2+)- selective current by synergy with the Ca(2+) sensor, STIM1. {ECO:0000269|PubMed:16807233, ECO:0000269|PubMed:17452328}.;

Recessive Scores

pRec: 0.112

Intolerance Scores

LoFtool: 0.110
RVIS EVS: -0.29
RVIS percentile EVS: 32.94

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.956

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium