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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84876
Gene name	ORAI calcium release-activated calcium modulator 1
Gene symbol	ORAI1
Synonyms (NCBI Gene)	CRACM1IMD9ORAT1TAM2TMEM142A
Chromosome	12
Chromosome location	12q24.31
Summary	The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a caus

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs118203993	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777528	C>T	Pathogenic	Coding sequence variant, missense variant
rs782753385	T>C	Pathogenic	Missense variant, coding sequence variant
rs786204796	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs786204797	C>T	Pathogenic	Missense variant, coding sequence variant
rs786205890	C>A	Pathogenic	Missense variant, coding sequence variant
rs878853261	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555322558	->CCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC	Pathogenic	Frameshift variant, coding sequence variant
rs1555322610	C>G	Pathogenic	Missense variant, coding sequence variant
rs1594212582	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant

272

Show/Hide all (272)

miRTarBase ID	miRNA	Experiments	Reference
MIRT616661	hsa-miR-3133	HITS-CLIP	23824327
MIRT616660	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT616659	hsa-miR-548u	HITS-CLIP	23824327
MIRT616658	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT616657	hsa-miR-8087	HITS-CLIP	23824327
MIRT616656	hsa-miR-4744	HITS-CLIP	23824327
MIRT616655	hsa-miR-4509	HITS-CLIP	23824327
MIRT616654	hsa-miR-6505-3p	HITS-CLIP	23824327
MIRT616653	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT616652	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT133316	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT133313	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT133316	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT133312	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT133317	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT133314	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT133321	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT133313	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT133321	hsa-miR-519d-3p	qRT-PCR	26792278
MIRT616661	hsa-miR-3133	HITS-CLIP	23824327
MIRT616660	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT616659	hsa-miR-548u	HITS-CLIP	23824327
MIRT616658	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT616657	hsa-miR-8087	HITS-CLIP	23824327
MIRT616656	hsa-miR-4744	HITS-CLIP	23824327
MIRT616655	hsa-miR-4509	HITS-CLIP	23824327
MIRT616654	hsa-miR-6505-3p	HITS-CLIP	23824327
MIRT616653	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT616652	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1204852	hsa-miR-106a	CLIP-seq
MIRT1204853	hsa-miR-106b	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204856	hsa-miR-1287	CLIP-seq
MIRT1204857	hsa-miR-1321	CLIP-seq
MIRT1204858	hsa-miR-139-3p	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204861	hsa-miR-17	CLIP-seq
MIRT1204862	hsa-miR-184	CLIP-seq
MIRT1204863	hsa-miR-20a	CLIP-seq
MIRT1204864	hsa-miR-20b	CLIP-seq
MIRT1204865	hsa-miR-298	CLIP-seq
MIRT1204866	hsa-miR-3125	CLIP-seq
MIRT1204867	hsa-miR-3135b	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204869	hsa-miR-3163	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204871	hsa-miR-329	CLIP-seq
MIRT1204872	hsa-miR-340	CLIP-seq
MIRT1204873	hsa-miR-3612	CLIP-seq
MIRT1204874	hsa-miR-362-3p	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204876	hsa-miR-3672	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204878	hsa-miR-377	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204880	hsa-miR-3916	CLIP-seq
MIRT1204881	hsa-miR-3941	CLIP-seq
MIRT1204882	hsa-miR-3973	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204885	hsa-miR-4419a	CLIP-seq
MIRT1204886	hsa-miR-4436a	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204889	hsa-miR-4510	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204892	hsa-miR-4643	CLIP-seq
MIRT1204893	hsa-miR-4668-3p	CLIP-seq
MIRT1204894	hsa-miR-4695-5p	CLIP-seq
MIRT1204895	hsa-miR-4700-3p	CLIP-seq
MIRT1204896	hsa-miR-4726-3p	CLIP-seq
MIRT1204897	hsa-miR-4728-5p	CLIP-seq
MIRT1204898	hsa-miR-4739	CLIP-seq
MIRT1204899	hsa-miR-4753-3p	CLIP-seq
MIRT1204900	hsa-miR-4756-5p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204902	hsa-miR-4768-5p	CLIP-seq
MIRT1204903	hsa-miR-4773	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204906	hsa-miR-4804-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204908	hsa-miR-513a-3p	CLIP-seq
MIRT1204909	hsa-miR-519a	CLIP-seq
MIRT1204910	hsa-miR-519b-3p	CLIP-seq
MIRT1204911	hsa-miR-519c-3p	CLIP-seq
MIRT1204912	hsa-miR-519d	CLIP-seq
MIRT1204913	hsa-miR-520g	CLIP-seq
MIRT1204914	hsa-miR-520h	CLIP-seq
MIRT1204915	hsa-miR-548c-3p	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204917	hsa-miR-592	CLIP-seq
MIRT1204918	hsa-miR-597	CLIP-seq
MIRT1204919	hsa-miR-603	CLIP-seq
MIRT1204920	hsa-miR-607	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204924	hsa-miR-650	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204928	hsa-miR-877	CLIP-seq
MIRT1204929	hsa-miR-93	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204866	hsa-miR-3125	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204880	hsa-miR-3916	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204886	hsa-miR-4436a	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204899	hsa-miR-4753-3p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204903	hsa-miR-4773	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204928	hsa-miR-877	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204856	hsa-miR-1287	CLIP-seq
MIRT1204857	hsa-miR-1321	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204862	hsa-miR-184	CLIP-seq
MIRT1204866	hsa-miR-3125	CLIP-seq
MIRT1204867	hsa-miR-3135b	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204869	hsa-miR-3163	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204871	hsa-miR-329	CLIP-seq
MIRT1204872	hsa-miR-340	CLIP-seq
MIRT1204873	hsa-miR-3612	CLIP-seq
MIRT1204874	hsa-miR-362-3p	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204876	hsa-miR-3672	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204880	hsa-miR-3916	CLIP-seq
MIRT1204881	hsa-miR-3941	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204885	hsa-miR-4419a	CLIP-seq
MIRT1204886	hsa-miR-4436a	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204889	hsa-miR-4510	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204894	hsa-miR-4695-5p	CLIP-seq
MIRT1204895	hsa-miR-4700-3p	CLIP-seq
MIRT1204896	hsa-miR-4726-3p	CLIP-seq
MIRT1204897	hsa-miR-4728-5p	CLIP-seq
MIRT1204898	hsa-miR-4739	CLIP-seq
MIRT1204899	hsa-miR-4753-3p	CLIP-seq
MIRT1204900	hsa-miR-4756-5p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204903	hsa-miR-4773	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204906	hsa-miR-4804-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204919	hsa-miR-603	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204924	hsa-miR-650	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204928	hsa-miR-877	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204866	hsa-miR-3125	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT2391917	hsa-miR-3202	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204880	hsa-miR-3916	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204899	hsa-miR-4753-3p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204928	hsa-miR-877	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq
MIRT1204854	hsa-miR-1280	CLIP-seq
MIRT1204855	hsa-miR-1281	CLIP-seq
MIRT1204859	hsa-miR-147	CLIP-seq
MIRT1204860	hsa-miR-150	CLIP-seq
MIRT1204868	hsa-miR-3150b-3p	CLIP-seq
MIRT1204870	hsa-miR-328	CLIP-seq
MIRT1204875	hsa-miR-3661	CLIP-seq
MIRT1204877	hsa-miR-3689d	CLIP-seq
MIRT1204879	hsa-miR-3911	CLIP-seq
MIRT1204883	hsa-miR-4254	CLIP-seq
MIRT1204884	hsa-miR-4286	CLIP-seq
MIRT1204887	hsa-miR-4459	CLIP-seq
MIRT1204888	hsa-miR-4487	CLIP-seq
MIRT1204890	hsa-miR-4535	CLIP-seq
MIRT1204891	hsa-miR-4633-3p	CLIP-seq
MIRT1204901	hsa-miR-4758-3p	CLIP-seq
MIRT1204903	hsa-miR-4773	CLIP-seq
MIRT1204904	hsa-miR-4784	CLIP-seq
MIRT1204905	hsa-miR-4800-5p	CLIP-seq
MIRT1204907	hsa-miR-492	CLIP-seq
MIRT1204916	hsa-miR-574-5p	CLIP-seq
MIRT1204921	hsa-miR-619	CLIP-seq
MIRT1204922	hsa-miR-631	CLIP-seq
MIRT1204923	hsa-miR-644	CLIP-seq
MIRT1204925	hsa-miR-663b	CLIP-seq
MIRT1204926	hsa-miR-7	CLIP-seq
MIRT1204927	hsa-miR-765	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002115	Process	Store-operated calcium entry	IBA
GO:0002115	Process	Store-operated calcium entry	IDA	16921383, 19182790, 26221052, 28219928, 32415068
GO:0002115	Process	Store-operated calcium entry	IEA
GO:0002115	Process	Store-operated calcium entry	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005262	Function	Calcium channel activity	IDA	31009446
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	17360584, 17442569, 17905723, 19182790, 19249086, 19706554, 19887627, 20418871, 20887894, 21408196, 21427704, 21876174, 22451904, 22464749, 22494970, 22586105, 23307288, 24954132, 24996186, 27185316, 28219928, 30481768, 30573509, 32415068, 33941685
GO:0005516	Function	Calmodulin binding	IEA
GO:0005886	Component	Plasma membrane	IDA	16645049, 16921383, 19171672, 19182790, 27185316, 28219928, 32415068
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0015279	Function	Store-operated calcium channel activity	IBA
GO:0015279	Function	Store-operated calcium channel activity	IDA	16645049, 16733527, 16766533, 16807233, 16921383, 17442569, 19182790, 23307288, 26221052, 28219928, 32415068, 33941685
GO:0015279	Function	Store-operated calcium channel activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IMP	33941685
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034704	Component	Calcium channel complex	ISS	31009446
GO:0042802	Function	Identical protein binding	IPI	18757751, 19249086, 20018736, 20194792, 24996186
GO:0044853	Component	Plasma membrane raft	IDA	19171672
GO:0045121	Component	Membrane raft	IDA	22494970
GO:0045762	Process	Positive regulation of adenylate cyclase activity	IDA	19171672
GO:0051924	Process	Regulation of calcium ion transport	IMP	16921383
GO:0051928	Process	Positive regulation of calcium ion transport	IDA	16645049, 16733527, 16766533, 16807233
GO:0061180	Process	Mammary gland epithelium development	IEA
GO:0070509	Process	Calcium ion import	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IDA	31009446
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:1990806	Process	Ligand-gated ion channel signaling pathway	IEA

MIM	HGNC	e!Ensembl
610277	25896	ENSG00000276045

Q96D31

Protein name

Calcium release-activated calcium channel protein 1 (Protein orai-1) (Transmembrane protein 142A)

Protein function

Pore-forming subunit of two major inward rectifying Ca(2+) channels at the plasma membrane: Ca(2+) release-activated Ca(2+) (CRAC) channels and arachidonate-regulated Ca(2+)-selective (ARC) channels (Probable) (PubMed:16645049, PubMed:16733527,

PDB

2MAK , 4EHQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07856	Orai-1	71 → 267	Mediator of CRAC channel activity	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in naive CD4 and CD8 T cells (at protein level) (PubMed:26956484). Expressed at similar levels in naive and effector T helper cells (PubMed:20354224). {ECO:0000269|PubMed:20354224, ECO:0000269|PubMed:26956484}.

Sequence

MHPEPAPPPSRSSPELPPSGGSTTSGSRRSRRRSGDGEPPGAPPPPPSAVTYPDWIGQSY
SEVMSLNEHSMQALSWRKLYLSRAKLKASSRTSALLSGFAMVAMVEVQLDADHDYPPGLL
IAFSACTTVLVAVHLFALMISTCILPNIEAVSNVHNLNSVKESPHERMHRHIELAWAFST
VIGTLLFLAEVVLLCWVKFLPLKKQPGQPRPTSKPPASGAAANVSTSGITPGQAAAIAST
TIMVPFGLIFIVFAVHFYRSLVSHKTDRQFQELNELAEFARLQDQLDHRGDHPLTPGSHY
A

Sequence length

301

Interactions

View interactions

	KEGG
	Calcium signaling pathway cAMP signaling pathway Platelet activation Renin secretion Aldosterone synthesis and secretion Cortisol synthesis and secretion Cushing syndrome Primary immunodeficiency

696

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined immunodeficiency due to ORAI1 deficiency	Pathogenic; Likely pathogenic	rs2136852410, rs2136853046, rs1265366427, rs118203993, rs878853261, rs786205890, rs782753385, rs1555324160, rs1892793686, rs2503543510, rs782163275, rs1555322558, rs1594212582	RCV001381703 RCV002020275 RCV001979184 RCV000001346 RCV000172858 RCV000172859 RCV000172860 RCV003088778 RCV003787608 RCV003808197 RCV004555819 RCV000544520 RCV000792445
Myopathy with tubular aggregates	Pathogenic	rs786204796	RCV004586590
Myopathy, tubular aggregate, 2	Pathogenic; Likely pathogenic	rs2136852410, rs2136853046, rs587777528, rs1265366427, rs786204796, rs782753385, rs1555324160, rs1892793686, rs2503543510, rs1555322610, rs1594212582	RCV001381703 RCV002020275 RCV000128581 RCV001979184 RCV000169690 RCV002517660 RCV003088778 RCV003787608 RCV003808197 RCV000509049 RCV000792445

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Myopathy, tubular aggregate, 1	Likely benign; Uncertain significance	rs376286032, rs1290572755	RCV001535505 RCV005429036
ORAI1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs782293603, rs1224734343, rs2503522277, rs568054544, rs782650611, rs782013212	RCV003394464 RCV003894051 RCV003909538 RCV003980274 RCV003905911 RCV003405429

Show/Hide Text Mining Associations (90)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	22253717
Anemia	Associate	33907089
Arthritis Rheumatoid	Associate	24808640
Autoimmune Diseases	Associate	35636153
Blood Platelet Disorders	Associate	29242293, 35636153
Breast Neoplasms	Associate	20395295, 22778704, 26380267, 26690689, 30718673, 31647602, 35682546, 37399784
Carcinoma Ductal	Associate	35081662
Carcinoma Hepatocellular	Associate	31366337
Carcinoma Non Small Cell Lung	Associate	26191202
Carcinoma Renal Cell	Stimulate	24603752
Carcinoma Renal Cell	Associate	27247496
Chronic Disease	Associate	24808640
Colonic Neoplasms	Associate	25143380
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	35636153
Coronavirus Infections	Associate	35113933
COVID 19	Associate	34819389, 35113933, 35636153
Cystic Fibrosis	Associate	21873556
Cytomegalovirus Infections	Associate	37661687
Death	Associate	24745010
Dermatitis Atopic	Associate	22253717, 31600783
Developmental Defects of Enamel	Associate	29155098
Diabetes Mellitus Type 1	Associate	30543678
Diabetic Nephropathies	Associate	29551286
Disease	Associate	36806330
Disease Resistance	Associate	33907089
Ectodermal Dysplasia	Associate	20004786, 29155098, 33650027
Esophageal Neoplasms	Associate	26191202, 28928244
Esophageal Squamous Cell Carcinoma	Associate	28928244
Fibrosis	Associate	29551286, 36128650
Gastrointestinal Stromal Tumors	Associate	28231736
Glioblastoma	Associate	23515871
Glioma	Associate	25433371
Glycosuria Renal	Associate	29551286
HIV Infections	Associate	26414663
Hypohidrosis	Associate	29155098
Hypoxia	Associate	29307746
Hypoxia	Stimulate	29351410
Hypoxia Brain	Associate	29307746
Immune System Diseases	Associate	24808640, 25577287, 30778805
Immunologic Deficiency Syndromes	Associate	19075015, 20004786, 29242293
Inflammation	Associate	21873556, 32275470, 35113933
Kidney Failure Chronic	Associate	24745010
Leukemia Lymphocytic Chronic B Cell	Associate	31014395
Leukemia Myeloid Acute	Associate	27865925, 35628366
Lung Neoplasms	Associate	26191202
Malformations of Cortical Development Group I	Associate	22144678, 28743945
Melanoma	Associate	26055321, 30814332
Mucocutaneous Lymph Node Syndrome	Associate	26789410
Multiple Myeloma	Associate	30114708
Muscle Cramp	Associate	35636153
Muscle Hypotonia	Associate	31600783, 33650027, 37661687
Muscle Weakness	Associate	35636153
Muscular Diseases	Associate	20004786, 25577287, 29155098
Muscular dystrophy congenital with central nervous system involvement	Associate	37661687
Myocardial Stunning	Associate	31842580
Myopathies Structural Congenital	Associate	28231751, 35636153, 35792400, 36806330
Myotonia Congenita	Associate	20004786
Neoplasm Metastasis	Associate	22778704, 26380267, 31796725
Neoplasms	Stimulate	25143380
Neoplasms	Associate	26690689, 27247496, 27960157, 28743945, 28803243, 28928244, 29307746, 33798603, 35636153, 35682546, 37399784, 39366533
Nephrolithiasis Calcium Oxalate	Associate	24800221
Neuralgia	Associate	37606998
Neuroacanthocytosis	Associate	28743945
Neuroacanthocytosis	Inhibit	30453283
Neuroendocrine Tumors	Associate	23049826
Osteoarthritis	Associate	29587570
Osteosarcoma	Associate	31796725
Ovarian Neoplasms	Associate	25015419, 26584285
Pancreatic Neoplasms	Associate	24583265
Pancreatitis	Associate	35081662, 35636153
Pancreatitis Chronic	Associate	37227782
Personality Disorders	Stimulate	29307746
Pneumonia	Associate	35113933
Polycystic Ovary Syndrome	Stimulate	35669690
Positive Pressure Respiration Intrinsic	Associate	31600783
Precancerous Conditions	Associate	26191202
Primary Myelofibrosis	Associate	24603752
Prostatic Neoplasms	Associate	21364678, 24240085, 26445441
Prostatic Neoplasms	Inhibit	23049826
Renal Insufficiency	Associate	33907089
Renal Insufficiency Chronic	Associate	24745010
Rhabdomyosarcoma	Associate	27960157
Severe Combined Immunodeficiency	Associate	19075015, 19366689, 20037597, 21987804, 25918394, 28231751, 29155098, 31600783, 31816637, 37661687
Spondylitis Ankylosing	Associate	21674042
Squamous Cell Carcinoma of Head and Neck	Associate	29063902
Stormorken Syndrome	Associate	35636153
Tertiary Lymphoid Structures	Associate	22778704
Thrombosis	Associate	29242293
Triple Negative Breast Neoplasms	Associate	29307746
X Linked Combined Immunodeficiency Diseases	Associate	26070885, 33650027

ORAI1 (ORAI calcium release-activated calcium modulator 1)