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Gene: ORAI3 (ORAI calcium release-activated calcium modulator 3) Homo sapiens

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Symbol:

ORAI3

Name:

ORAI calcium release-activated calcium modulator 3

RGD ID:

1602192

HGNC Page

HGNC:28185

Description:

Enables store-operated calcium channel activity. Involved in store-operated calcium entry. Located in plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

MGC13024; protein orai-3; TMEM142C; transmembrane protein 142C

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	30,949,068 - 30,954,938 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	30,949,068 - 30,956,461 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	30,960,389 - 30,966,259 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	30,867,916 - 30,873,760 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	16	29,331,449 - 29,337,301 (-)	NCBI		Celera
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	28,523,075 - 28,528,912 (+)	NCBI		HuRef
CHM1_1	16	32,277,415 - 32,283,267 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	31,336,531 - 31,342,399 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

branched-chain keto acid dehydrogenase kinase deficiency (IAGP)

dilated cardiomyopathy (IAGP)

generalized epilepsy with febrile seizures plus 9 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(S)-colchicine (EXP)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

acrylamide (EXP,ISO)

adenine (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

atrazine (EXP)

azoxystrobin (ISO)

benzo[a]pyrene (EXP)

beta-lapachone (EXP)

bisphenol A (ISO)

bisphenol F (ISO)

butanal (EXP)

cadmium dichloride (EXP)

chloroacetaldehyde (EXP)

chlorpyrifos (ISO)

cisplatin (EXP)

clodronic acid (EXP)

copper(II) chloride (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

diazinon (EXP)

Dibutyl phosphate (EXP)

dibutyl phthalate (EXP)

dioxygen (EXP)

dorsomorphin (EXP)

endosulfan (ISO)

ethyl methanesulfonate (EXP)

fenofibrate (EXP)

fenthion (ISO)

folic acid (ISO)

formaldehyde (EXP)

glyphosate (ISO)

hydrogen peroxide (EXP)

imidacloprid (ISO)

lead(0) (EXP)

metformin (ISO)

methyl methanesulfonate (EXP)

mitomycin C (EXP)

niclosamide (EXP)

nitrates (ISO)

paracetamol (ISO)

perfluorononanoic acid (EXP)

phenobarbital (EXP)

pirinixic acid (ISO)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

sunitinib (EXP)

thiabendazole (ISO)

thiram (EXP)

titanium dioxide (ISO)

trichostatin A (EXP)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

calcium ion transmembrane transport (IEA)

store-operated calcium entry (IBA,IDA,IEA,ISO)

Cellular Component

membrane (IBA,IEA)

plasma membrane (IDA,IEA)

Molecular Function

calcium channel activity (IEA)

protein binding (IPI)

store-operated calcium channel activity (IBA,IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

calcium transport pathway (TAS)

calcium/calcium-mediated signaling pathway (TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
2.	STIM proteins: dynamic calcium signal transducers.	Soboloff J, etal., Nat Rev Mol Cell Biol. 2012 Sep;13(9):549-65. doi: 10.1038/nrm3414.

Additional References at PubMed

PMID:12477932	PMID:15489334	PMID:16582901	PMID:17442569	PMID:17452328	PMID:17991693	PMID:18403424	PMID:18420579	PMID:18499656	PMID:19182790	PMID:19506081	PMID:19706554
PMID:19887627	PMID:20354224	PMID:20395295	PMID:20418871	PMID:20607548	PMID:20683915	PMID:21724845	PMID:21873635	PMID:22993197	PMID:23266555	PMID:23890118	PMID:24058448
PMID:24321771	PMID:24603752	PMID:24909327	PMID:24954132	PMID:25791427	PMID:26445441	PMID:26718630	PMID:26956485	PMID:27571764	PMID:28179072	PMID:29203863	PMID:29237733
PMID:29237734	PMID:29323264	PMID:30216788	PMID:30943377	PMID:32415068	PMID:32896813	PMID:33798603	PMID:34626722	PMID:34768857	PMID:34943998	PMID:37759448	PMID:39135143

Genomics

Comparative Map Data

ORAI3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	30,949,068 - 30,954,938 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	30,949,068 - 30,956,461 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	30,960,389 - 30,966,259 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	30,867,916 - 30,873,760 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	16	29,331,449 - 29,337,301 (-)	NCBI		Celera
Cytogenetic Map	16	p11.2	NCBI
HuRef	16	28,523,075 - 28,528,912 (+)	NCBI		HuRef
CHM1_1	16	32,277,415 - 32,283,267 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	31,336,531 - 31,342,399 (+)	NCBI		T2T-CHM13v2.0

Orai3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	127,368,987 - 127,374,322 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	127,368,987 - 127,374,322 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	127,769,815 - 127,775,150 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	127,769,815 - 127,775,150 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	134,913,329 - 134,918,664 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	127,560,993 - 127,566,152 (+)	NCBI		MGSCv36	mm8
Celera	7	127,605,006 - 127,610,345 (+)	NCBI		Celera
Cytogenetic Map	7	F3	NCBI
cM Map	7	69.73	NCBI

Orai3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	191,811,671 - 191,816,530 (+)	NCBI		GRCr8
mRatBN7.2	1	182,381,196 - 182,386,055 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	182,344,293 - 182,386,052 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	190,731,737 - 190,736,596 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	197,917,832 - 197,922,691 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	190,588,302 - 190,593,161 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	199,217,504 - 199,222,363 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	199,217,016 - 199,222,851 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	206,239,787 - 206,244,646 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	187,054,514 - 187,059,373 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	187,204,394 - 187,209,253 (+)	NCBI
Celera	1	180,032,317 - 180,037,176 (+)	NCBI		Celera
Cytogenetic Map	1	q37	NCBI

Orai3
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955493	7,799,738 - 7,806,590 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955493	7,799,738 - 7,806,590 (+)	NCBI	ChiLan1.0	ChiLan1.0

ORAI3
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	18	34,154,764 - 34,160,896 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	38,956,223 - 38,962,309 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	24,014,018 - 24,019,889 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	31,314,878 - 31,321,562 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	31,314,922 - 31,323,320 (+)	Ensembl	panpan1.1		panPan2

ORAI3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	17,248,900 - 17,253,935 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	17,248,884 - 17,274,850 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	18,823,980 - 18,829,005 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	17,379,252 - 17,384,277 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	17,379,685 - 17,384,254 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	17,179,607 - 17,184,632 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	17,098,744 - 17,103,769 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	17,411,301 - 17,416,327 (-)	NCBI		UU_Cfam_GSD_1.0

Orai3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024409344	125,234,885 - 125,240,976 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936501	13,332,757 - 13,339,324 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936501	13,332,859 - 13,338,838 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ORAI3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	17,490,528 - 17,497,063 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	17,490,524 - 17,497,391 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	17,807,162 - 17,814,006 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ORAI3
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	5	27,637,919 - 27,644,585 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	27,638,731 - 27,644,829 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666068	1,826,773 - 1,832,820 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Orai3
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624782	14,020,791 - 14,030,867 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624782	14,020,815 - 14,028,055 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ORAI3
23 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	copy number gain	See cases [RCV000133811]	Chr16:30691912..36160463 [GRCh38] Chr16:30703233..35147508 [GRCh37] Chr16:30610734..35005009 [NCBI36] Chr16:16p11.2-11.1	pathogenic
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	copy number gain	See cases [RCV000135339]	Chr16:29909613..31438697 [GRCh38] Chr16:29920934..31450018 [GRCh37] Chr16:29828435..31357519 [NCBI36] Chr16:16p11.2	pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	copy number gain	See cases [RCV000140341]	Chr16:27311746..31193406 [GRCh38] Chr16:27323067..31204727 [GRCh37] Chr16:27230568..31112228 [NCBI36] Chr16:16p12.1-11.2	pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	copy number gain	See cases [RCV000141141]	Chr16:23752047..31943755 [GRCh38] Chr16:23763368..31955076 [GRCh37] Chr16:23670869..31862577 [NCBI36] Chr16:16p12.2-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207028]	Chr16:30391304..31122666 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207053]	Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2	uncertain significance
Single allele	deletion	Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205]	Chr16:30554158..31536880 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:30943854-31171177)x1	copy number loss	See cases [RCV000446201]	Chr16:30943854..31171177 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4	copy number gain	See cases [RCV000447708]	Chr16:30830287..31827011 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	copy number loss	See cases [RCV000448084]	Chr16:28826162..29043901 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1	copy number loss	See cases [RCV000511906]	Chr16:30952806..31177641 [GRCh37] Chr16:16p11.2	likely pathogenic
GRCh37/hg19 16p11.2(chr16:30607048-31117069)x1	copy number loss	See cases [RCV000511454]	Chr16:30607048..31117069 [GRCh37] Chr16:16p11.2	uncertain significance
maternal UPD(16p)	complex	Hemimegalencephaly [RCV000494707]	Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3	copy number gain	not provided [RCV000739123]	Chr16:30738551..34194635 [GRCh37] Chr16:16p11.2	benign
GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1	copy number loss	not provided [RCV000848082]	Chr16:30851860..31156762 [GRCh37] Chr16:16p11.2	pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	copy number gain	Microcephaly [RCV001252948]	Chr16:5805001..34230001 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	copy number gain	not provided [RCV001258619]	Chr16:30350747..31905898 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:30943854-31171177)	copy number loss	not specified [RCV002052525]	Chr16:30943854..31171177 [GRCh37] Chr16:16p11.2	likely pathogenic
NC_000016.9:g.(?_30712146)_(31021717_?)dup	duplication	Generalized epilepsy with febrile seizures plus, type 9 [RCV003122990]	Chr16:30712146..31021717 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.259G>A (p.Asp87Asn)	single nucleotide variant	not specified [RCV004245508]	Chr16:30953215 [GRCh38] Chr16:30964536 [GRCh37] Chr16:16p11.2	likely benign
NM_152288.3(ORAI3):c.674C>G (p.Ala225Gly)	single nucleotide variant	not specified [RCV004223061]	Chr16:30953630 [GRCh38] Chr16:30964951 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.627T>A (p.Asn209Lys)	single nucleotide variant	not specified [RCV004235710]	Chr16:30953583 [GRCh38] Chr16:30964904 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.610C>T (p.Leu204Phe)	single nucleotide variant	not specified [RCV004122543]	Chr16:30953566 [GRCh38] Chr16:30964887 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.656C>T (p.Pro219Leu)	single nucleotide variant	not specified [RCV004103286]	Chr16:30953612 [GRCh38] Chr16:30964933 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.337C>T (p.Leu113Phe)	single nucleotide variant	not specified [RCV004129778]	Chr16:30953293 [GRCh38] Chr16:30964614 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.763G>A (p.Val255Met)	single nucleotide variant	not specified [RCV004075059]	Chr16:30953719 [GRCh38] Chr16:30965040 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.310G>A (p.Val104Met)	single nucleotide variant	not specified [RCV004089282]	Chr16:30953266 [GRCh38] Chr16:30964587 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.187G>A (p.Ala63Thr)	single nucleotide variant	not specified [RCV004217846]	Chr16:30949476 [GRCh38] Chr16:30960797 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.432C>A (p.His144Gln)	single nucleotide variant	not specified [RCV004316508]	Chr16:30953388 [GRCh38] Chr16:30964709 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.59G>T (p.Ser20Ile)	single nucleotide variant	not specified [RCV004343372]	Chr16:30949348 [GRCh38] Chr16:30960669 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.554C>T (p.Thr185Ile)	single nucleotide variant	not specified [RCV004343670]	Chr16:30953510 [GRCh38] Chr16:30964831 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.91G>A (p.Val31Met)	single nucleotide variant	not specified [RCV004335972]	Chr16:30949380 [GRCh38] Chr16:30960701 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.685C>T (p.Arg229Trp)	single nucleotide variant	not specified [RCV004502310]	Chr16:30953641 [GRCh38] Chr16:30964962 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.439G>A (p.Val147Met)	single nucleotide variant	not specified [RCV004502306]	Chr16:30953395 [GRCh38] Chr16:30964716 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.550C>G (p.Pro184Ala)	single nucleotide variant	not specified [RCV004502308]	Chr16:30953506 [GRCh38] Chr16:30964827 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.473G>T (p.Gly158Val)	single nucleotide variant	not specified [RCV004502307]	Chr16:30953429 [GRCh38] Chr16:30964750 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.575G>A (p.Arg192Gln)	single nucleotide variant	not specified [RCV004502309]	Chr16:30953531 [GRCh38] Chr16:30964852 [GRCh37] Chr16:16p11.2	likely benign
NC_000016.9:g.(?_28889993)_(31202759_?)del	deletion	Dilated Cardiomyopathy, Dominant [RCV004582801]	Chr16:28889993..31202759 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.95A>G (p.His32Arg)	single nucleotide variant	not specified [RCV004661846]	Chr16:30949384 [GRCh38] Chr16:30960705 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.113T>C (p.Leu38Pro)	single nucleotide variant	not specified [RCV004661845]	Chr16:30949402 [GRCh38] Chr16:30960723 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.82C>G (p.Arg28Gly)	single nucleotide variant	not specified [RCV004647961]	Chr16:30949371 [GRCh38] Chr16:30960692 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.38C>T (p.Pro13Leu)	single nucleotide variant	not specified [RCV004647962]	Chr16:30949327 [GRCh38] Chr16:30960648 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.611T>G (p.Leu204Arg)	single nucleotide variant	not specified [RCV004827421]	Chr16:30953567 [GRCh38] Chr16:30964888 [GRCh37] Chr16:16p11.2	uncertain significance
GRCh37/hg19 16p11.2(chr16:30907349-31334236)x1	copy number loss	not provided [RCV004819387]	Chr16:30907349..31334236 [GRCh37] Chr16:16p11.2	pathogenic
NM_152288.3(ORAI3):c.116T>C (p.Met39Thr)	single nucleotide variant	not specified [RCV004827422]	Chr16:30949405 [GRCh38] Chr16:30960726 [GRCh37] Chr16:16p11.2	uncertain significance
NM_152288.3(ORAI3):c.867G>C (p.Gln289His)	single nucleotide variant	not specified [RCV004843515]	Chr16:30953823 [GRCh38] Chr16:30965144 [GRCh37] Chr16:16p11.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1256
Count of miRNA genes:	687
Interacting mature miRNAs:	788
Transcripts:	ENST00000318663, ENST00000562699, ENST00000563161, ENST00000566237
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597056941	GWAS1153015_H	basophil percentage of leukocytes QTL GWAS1153015 (human)		6e-09	basophil percentage of leukocytes	blood basophil count to total leukocyte count ratio (CMO:0000368)	16	30949285	30949286	Human

Markers in Region

RH102081

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	30,966,014 - 30,966,153	UniSTS	GRCh37
Build 36	16	30,873,515 - 30,873,654	RGD	NCBI36
Celera	16	29,331,555 - 29,331,694	RGD
Cytogenetic Map	16	p11.2	UniSTS
HuRef	16	28,528,667 - 28,528,806	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1950	465	2270	7305	6471	53	3734	1	852	1744	1617	174	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_152288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC135048	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015555	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC016150	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC022786	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI561433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471192	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000318663 ⟹ ENSP00000322249

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,949,068 - 30,954,938 (+)	Ensembl

Ensembl Acc Id:

ENST00000562699 ⟹ ENSP00000457025

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,949,152 - 30,956,461 (+)	Ensembl

Ensembl Acc Id:

ENST00000563161 ⟹ ENSP00000457221

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,949,081 - 30,953,548 (+)	Ensembl

Ensembl Acc Id:

ENST00000566237 ⟹ ENSP00000457388

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	30,949,123 - 30,954,506 (+)	Ensembl

RefSeq Acc Id:

NM_152288 ⟹ NP_689501

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	30,949,068 - 30,954,938 (+)	NCBI
GRCh37	16	30,960,405 - 30,966,259 (+)	ENTREZGENE
Build 36	16	30,867,916 - 30,873,760 (+)	NCBI Archive
HuRef	16	28,523,075 - 28,528,912 (+)	ENTREZGENE
CHM1_1	16	32,277,415 - 32,283,267 (+)	NCBI
T2T-CHM13v2.0	16	31,336,531 - 31,342,399 (+)	NCBI

Sequence:

show sequence

AGTTCCTGTTTTGGCCTCCGCTGTCCCGCTCCGGCTCCTGGGGCTCCCCGCAGACGCTGCTTTT
CTTGCTCCACTGGGGGTGCCTCTTCCTGGGCGCCCGCCGCCTGCATCCTGCTCGTCCTGTCTGG
GAATGGGGCCGCCCCCGGGCTTGGGCCGGCCCGGCTGGGGCCCCCGAGGCGCTTCCGCCCCGTA
GTGACCGCCTGGTGCCGCCCCCCCCCCAGGATGAAGGGCGGCGAGGGGGACGCGGGCGAGCAGG
CCCCGCTGAACCCTGAGGGCGAGAGCCCTGCAGGCTCGGCCACGTACCGGGAGTTCGTGCACCG
CGGCTACCTGGACCTCATGGGGGCCAGTCAGCACTCGCTGCGGGCGCTCAGCTGGCGCCGCCTC
TACCTCAGCCGGGCCAAGCTCAAAGCTTCCAGCCGCACGTCTGCCTTGCTCTCGGGCTTCGCCA
TGGTGGCCATGGTGGAGGTGCAGCTGGAGAGTGACCACGAGTACCCACCAGGCCTGCTGGTGGC
CTTCAGTGCCTGCACCACCGTGCTGGTGGCTGTGCACCTCTTTGCACTCATGGTCTCCACGTGT
CTGCTGCCCCACATTGAAGCTGTGAGCAACATCCACAACCTCAACTCTGTCCACCAGTCGCCAC
ACCAGAGACTGCACCGCTACGTGGAGCTGGCCTGGGGCTTCTCCACTGCCCTGGGCACCTTTCT
CTTCCTTGCTGAAGTTGTCCTGGTTGGTTGGGTCAAGTTTGTGCCCATTGGGGCTCCCTTGGAC
ACACCGACCCCCATGGTGCCCACATCCCGGGTGCCCGGGACTCTGGCACCAGTGGCTACCTCCC
TTAGTCCAGCTTCCAATCTCCCACGGTCCTCTGCGTCTGCAGCACCGTCCCAAGCTGAGCCAGC
CTGCCCACCCCGGCAAGCCTGTGGTGGTGGTGGGGCCCATGGGCCAGGCTGGCAAGCAGCCATG
GCCTCCACAGCCATCATGGTACCCGTGGGGCTCGTGTTTGTGGCCTTTGCCCTGCATTTCTACC
GCTCCTTGGTGGCACACAAGACAGACCGCTACAAGCAGGAACTAGAGGAACTGAATCGCCTGCA
GGGGGAGCTGCAGGCTGTGTGAGACTGGTGTTAGCCACCGCTCACTGCAAGCACTGCCTCCCTC
CGGGGTCTGTAAGAGGCCGCAGGGGCCTACAGACCTCATCCCCCCATCCCCTGGCTGGAGCCAC
TTCCAGTGGCCACTCTCAGGCAGAGTTCAGATTCCTGCCCGCAGGGTCCTCTGGGCTGGGCCTT
GGGGCAGCTCCCACATTCCCAGGGATTTTCCCCATCAGTCTGTCCCTTGGGTTTTGCAAGCTAC
TCTGCACCTGGGCTGGCCTCAGTTGAAGGATCATGCAGTAGATAGAGGGGAGGCAGGGAGAGCT
TGTGGGACCTTCAGTGCTGACTTTAGCCACCATTTCCATTCCTATACAGGATGTGAAGGTCAGA
AGGCAGCCAATTGTTGGTTTAATTTTTTTTTTTTTTTGAGACAGTCTGTTTCCCAGGCTGGAGT
GTAGTGATACAGTCACAGCTCACTGTAGCCTCGACCTTCCAGGCTCAAAAGATGCTCCCACCAC
AGCCTCCCAGGTAGTGAGTAGCTGGTACTACAGGTGTGTGCTGCCACACCCGACTAATTTTTTT
GTAGAGACGGGGTTTCGCTGTTCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGAACCTCCCG
CCTCGGCCTCCCAAAGTGCTGGGATTCCTTTCTTTATTTCTGTAGAATCTATTTTATGGTTGGC
ATTTTGGGGGAAGATTTCGATGGGTTCCACATTCTTGCTTTAGTTGTTGTAGAGGGATTTGGGT
GTTTCTACCCAAGGCATTGGTCTAGCTTTTCCTACAATGAACCTATCTTTGGAGGTTCAAGCTC
CCCACCTTCCCCCACTGTGGTGACCTGTGGCCACTTGCAGAAGGGATGGTGCCTGACCCACTGC
CCTAGCCCCACGCTATGCACCAAACTTGTTCTCCCCGTCCTGGTCCAGGGCTGGGGTCTTTAGA
GACTGACAGCCTCTGCCCCAGGCCTGAGTCCTTAGCAAGGGTTGGGTAAGGAGGTTTTAAGGGA
GAAGGTCCAGTCCTTAGCCCTTGAAATACAAAGCTCTTCTGACACTGAATTTGGATGCACCTTG
TTTTATATAATAAATCGTGTTTCACAGA

hide sequence

Protein Sequences


Protein RefSeqs	NP_689501	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH06126	(Get FASTA)	NCBI Sequence Viewer
	AAH15555	(Get FASTA)	NCBI Sequence Viewer
	AAH22786	(Get FASTA)	NCBI Sequence Viewer
	BAG60537	(Get FASTA)	NCBI Sequence Viewer
	EAW52185	(Get FASTA)	NCBI Sequence Viewer
	EAW52186	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000322249
	ENSP00000322249.4
	ENSP00000457025.1
	ENSP00000457221.1
	ENSP00000457388.1
GenBank Protein	Q9BRQ5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_689501 ⟸ NM_152288

- UniProtKB:

Q96BI8 (UniProtKB/Swiss-Prot), Q9BRQ5 (UniProtKB/Swiss-Prot), B4DPC5 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MKGGEGDAGEQAPLNPEGESPAGSATYREFVHRGYLDLMGASQHSLRALSWRRLYLSRAKLKAS
SRTSALLSGFAMVAMVEVQLESDHEYPPGLLVAFSACTTVLVAVHLFALMVSTCLLPHIEAVSN
IHNLNSVHQSPHQRLHRYVELAWGFSTALGTFLFLAEVVLVGWVKFVPIGAPLDTPTPMVPTSR
VPGTLAPVATSLSPASNLPRSSASAAPSQAEPACPPRQACGGGGAHGPGWQAAMASTAIMVPVG
LVFVAFALHFYRSLVAHKTDRYKQELEELNRLQGELQAV

hide sequence

Ensembl Acc Id:

ENSP00000457025 ⟸ ENST00000562699

Ensembl Acc Id:

ENSP00000457221 ⟸ ENST00000563161

Ensembl Acc Id:

ENSP00000457388 ⟸ ENST00000566237

Ensembl Acc Id:

ENSP00000322249 ⟸ ENST00000318663

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9BRQ5-F1-model_v2	AlphaFold	Q9BRQ5	1-295	view protein structure

Promoters

RGD ID:

7232039

Promoter ID:

EPDNEW_H21765

Type:

initiation region

Name:

ORAI3_1

Description:

ORAI calcium release-activated calcium modulator 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	30,949,117 - 30,949,177	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:28185	AgrOrtholog
COSMIC	ORAI3	COSMIC
Ensembl Genes	ENSG00000175938	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000318663	ENTREZGENE
	ENST00000318663.5	UniProtKB/Swiss-Prot
	ENST00000562699.1	UniProtKB/TrEMBL
	ENST00000563161.1	UniProtKB/TrEMBL
	ENST00000566237.1	UniProtKB/TrEMBL
Gene3D-CATH	1.20.140.140	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000175938	GTEx
HGNC ID	HGNC:28185	ENTREZGENE
Human Proteome Map	ORAI3	Human Proteome Map
InterPro	CRAC_channel	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Orai_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:93129	UniProtKB/Swiss-Prot
NCBI Gene	93129	ENTREZGENE
OMIM	610930	OMIM
PANTHER	PTHR31501	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR31501:SF6	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Orai-1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162398465	PharmGKB
UniProt	B4DPC5	ENTREZGENE, UniProtKB/TrEMBL
	H3BT51_HUMAN	UniProtKB/TrEMBL
	H3BTK7_HUMAN	UniProtKB/TrEMBL
	H3BTY7_HUMAN	UniProtKB/TrEMBL
	ORAI3_HUMAN	UniProtKB/Swiss-Prot
	Q96BI8	ENTREZGENE
	Q9BRQ5	ENTREZGENE
UniProt Secondary	Q96BI8	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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