STIM2 (stromal interaction molecule 2) - Rat Genome Database

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Gene: STIM2 (stromal interaction molecule 2) Homo sapiens
Analyze
Symbol: STIM2
Name: stromal interaction molecule 2
RGD ID: 1312198
HGNC Page HGNC:19205
Description: Enables calcium channel regulator activity; calcium ion binding activity; and store-operated calcium channel activity. Involved in activation of store-operated calcium channel activity and intracellular calcium ion homeostasis. Located in endoplasmic reticulum and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ39527; KIAA1482
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38426,860,841 - 27,025,381 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl426,857,601 - 27,025,381 (+)EnsemblGRCh38hg38GRCh38
GRCh37426,862,463 - 27,027,003 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36426,471,462 - 26,634,907 (+)NCBINCBI36Build 36hg18NCBI36
Build 34426,538,581 - 26,703,272NCBI
Celera427,312,306 - 27,476,220 (+)NCBICelera
Cytogenetic Map4p15.2NCBI
HuRef426,200,122 - 26,364,764 (+)NCBIHuRef
CHM1_1426,863,824 - 27,028,520 (+)NCBICHM1_1
T2T-CHM13v2.0426,845,953 - 27,010,482 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Weight Gain  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. 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:198439   PMID:1146333   PMID:8889548   PMID:10819331   PMID:11230166   PMID:11463338   PMID:12477932   PMID:14702039   PMID:15231748   PMID:15489334   PMID:15840729   PMID:16005298  
PMID:16860747   PMID:17905723   PMID:18160041   PMID:18166150   PMID:18484746   PMID:19019825   PMID:19111578   PMID:19433064   PMID:19487696   PMID:19843959   PMID:20172609   PMID:20379614  
PMID:20436167   PMID:20562859   PMID:21217057   PMID:21321120   PMID:21383014   PMID:21829377   PMID:21873635   PMID:21906591   PMID:22125164   PMID:22477146   PMID:22592407   PMID:23251661  
PMID:23359669   PMID:24044355   PMID:24472175   PMID:24492416   PMID:24603752   PMID:25143380   PMID:25310821   PMID:25335168   PMID:25367360   PMID:25533457   PMID:25587190   PMID:25896806  
PMID:26033257   PMID:26344197   PMID:26638075   PMID:26911279   PMID:26972000   PMID:28087881   PMID:28479254   PMID:28514442   PMID:28692057   PMID:29395067   PMID:29568061   PMID:29581306  
PMID:29642009   PMID:29783744   PMID:30317585   PMID:30444880   PMID:30475382   PMID:30639242   PMID:30824535   PMID:30967511   PMID:31056421   PMID:31177093   PMID:31464639   PMID:31586073  
PMID:31871319   PMID:31980649   PMID:32012922   PMID:32186932   PMID:32393512   PMID:32576932   PMID:32601188   PMID:32641503   PMID:32788342   PMID:32794568   PMID:32850835   PMID:32877691  
PMID:33027906   PMID:33086068   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34432599   PMID:34597346   PMID:34702444   PMID:35022238   PMID:35198878   PMID:35271311   PMID:35384245  
PMID:35575683   PMID:35696571   PMID:35818214   PMID:35844135   PMID:36736316   PMID:36931259   PMID:36976175   PMID:37774976   PMID:37931956   PMID:38117590   PMID:38234211   PMID:38569033  
PMID:39231216  


Genomics

Comparative Map Data
STIM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38426,860,841 - 27,025,381 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl426,857,601 - 27,025,381 (+)EnsemblGRCh38hg38GRCh38
GRCh37426,862,463 - 27,027,003 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36426,471,462 - 26,634,907 (+)NCBINCBI36Build 36hg18NCBI36
Build 34426,538,581 - 26,703,272NCBI
Celera427,312,306 - 27,476,220 (+)NCBICelera
Cytogenetic Map4p15.2NCBI
HuRef426,200,122 - 26,364,764 (+)NCBIHuRef
CHM1_1426,863,824 - 27,028,520 (+)NCBICHM1_1
T2T-CHM13v2.0426,845,953 - 27,010,482 (+)NCBIT2T-CHM13v2.0
Stim2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39554,155,865 - 54,278,399 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl554,155,841 - 54,278,399 (+)EnsemblGRCm39 Ensembl
GRCm38553,998,523 - 54,121,057 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl553,998,499 - 54,121,057 (+)EnsemblGRCm38mm10GRCm38
MGSCv37554,389,762 - 54,512,296 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36554,286,771 - 54,408,451 (+)NCBIMGSCv36mm8
Celera551,381,922 - 51,504,557 (+)NCBICelera
Cytogenetic Map5C1NCBI
cM Map529.69NCBI
Stim2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81461,091,550 - 61,217,281 (-)NCBIGRCr8
mRatBN7.21456,878,428 - 57,004,405 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1456,878,645 - 57,004,179 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1461,285,454 - 61,411,071 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01462,587,988 - 62,713,625 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01458,984,779 - 59,110,410 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01459,198,180 - 59,323,947 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1459,198,401 - 59,323,947 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01459,325,608 - 59,451,210 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41461,630,737 - 61,759,846 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11461,634,362 - 61,762,383 (-)NCBI
Celera1455,989,151 - 56,113,547 (-)NCBICelera
Cytogenetic Map14q11NCBI
Stim2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544318,278,464 - 18,366,522 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544318,281,245 - 18,424,750 (-)NCBIChiLan1.0ChiLan1.0
STIM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2327,116,068 - 27,277,399 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1427,308,509 - 27,469,818 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0421,262,272 - 21,424,944 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1426,523,195 - 26,695,611 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl426,537,703 - 26,694,416 (+)Ensemblpanpan1.1panPan2
STIM2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1383,560,690 - 83,703,978 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl383,564,108 - 83,724,520 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha386,073,946 - 86,216,661 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0384,529,366 - 84,672,425 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl384,531,617 - 84,692,965 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1383,653,235 - 83,796,214 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0383,773,498 - 83,915,775 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0384,154,006 - 84,297,027 (-)NCBIUU_Cfam_GSD_1.0
Stim2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528549,121,755 - 49,291,501 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364772,825,676 - 2,928,269 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364772,824,720 - 2,950,069 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STIM2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl820,517,587 - 20,604,319 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1820,456,343 - 20,609,283 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2821,074,680 - 21,104,211 (+)NCBISscrofa10.2Sscrofa10.2susScr3
STIM2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12723,330,382 - 23,498,965 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2723,332,789 - 23,498,829 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604769,841,556 - 70,006,138 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Stim2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247555,601,364 - 5,762,516 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247555,600,929 - 5,765,675 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in STIM2
75 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
NM_001169117.1(STIM2):c.537G>A (p.Met179Ile) single nucleotide variant Malignant melanoma [RCV000060977] Chr4:26999259 [GRCh38]
Chr4:27000881 [GRCh37]
Chr4:26609979 [NCBI36]
Chr4:4p15.2		 not provided
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1 copy number loss See cases [RCV000135404] Chr4:23862000..27685546 [GRCh38]
Chr4:23863623..27687168 [GRCh37]
Chr4:23472721..27296266 [NCBI36]
Chr4:4p15.2		 pathogenic
GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1 copy number loss See cases [RCV000135806] Chr4:16925022..32113076 [GRCh38]
Chr4:16926645..32114698 [GRCh37]
Chr4:16535743..31758596 [NCBI36]
Chr4:4p15.32-15.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1 copy number loss See cases [RCV000240221] Chr4:23458442..29252060 [GRCh37]
Chr4:4p15.2-15.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)x1 copy number loss See cases [RCV000445756] Chr4:23790131..32302608 [GRCh37]
Chr4:4p15.2-15.1		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p15.2(chr4:26900670-27025497)x3 copy number gain not provided [RCV000743457] Chr4:26900670..27025497 [GRCh37]
Chr4:4p15.2		 benign
GRCh37/hg19 4p15.2(chr4:26945149-26957436)x0 copy number loss not provided [RCV000743458] Chr4:26945149..26957436 [GRCh37]
Chr4:4p15.2		 benign
GRCh37/hg19 4p15.2(chr4:26950265-26957489)x0 copy number loss not provided [RCV000743459] Chr4:26950265..26957489 [GRCh37]
Chr4:4p15.2		 benign
GRCh37/hg19 4p15.2(chr4:26956005-26970376)x0 copy number loss not provided [RCV000743460] Chr4:26956005..26970376 [GRCh37]
Chr4:4p15.2		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1		 pathogenic
NM_020860.4(STIM2):c.2209A>G (p.Ile737Val) single nucleotide variant not specified [RCV004292061] Chr4:27022964 [GRCh38]
Chr4:27024586 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1481A>G (p.Gln494Arg) single nucleotide variant not specified [RCV004298440] Chr4:27008994 [GRCh38]
Chr4:27010616 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1 copy number loss not provided [RCV001005527] Chr4:20406475..29134345 [GRCh37]
Chr4:4p15.31-15.1		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p15.2(chr4:26326650-27059065)x3 copy number gain not provided [RCV001259841] Chr4:26326650..27059065 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p15.31-14(chr4:19892850-37325128) copy number loss not specified [RCV002053409] Chr4:19892850..37325128 [GRCh37]
Chr4:4p15.31-14		 pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608) copy number loss not specified [RCV002053411] Chr4:23790131..32302608 [GRCh37]
Chr4:4p15.2-15.1		 likely pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_020860.4(STIM2):c.2147G>A (p.Arg716Lys) single nucleotide variant not specified [RCV004304782] Chr4:27022902 [GRCh38]
Chr4:27024524 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.142C>T (p.Leu48Phe) single nucleotide variant not specified [RCV004132786] Chr4:26861360 [GRCh38]
Chr4:26862982 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.211G>A (p.Ala71Thr) single nucleotide variant not specified [RCV004125342] Chr4:26919563 [GRCh38]
Chr4:26921185 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.884A>G (p.Asn295Ser) single nucleotide variant not specified [RCV004217932] Chr4:27003007 [GRCh38]
Chr4:27004629 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.497C>T (p.Thr166Met) single nucleotide variant not specified [RCV004160618] Chr4:26995478 [GRCh38]
Chr4:26997100 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1031G>A (p.Ser344Asn) single nucleotide variant not specified [RCV004099135] Chr4:27007582 [GRCh38]
Chr4:27009204 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1603G>T (p.Ala535Ser) single nucleotide variant not specified [RCV004102488] Chr4:27017824 [GRCh38]
Chr4:27019446 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.68G>A (p.Arg23His) single nucleotide variant not specified [RCV004210936] Chr4:26861286 [GRCh38]
Chr4:26862908 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.905G>A (p.Cys302Tyr) single nucleotide variant not specified [RCV004104769] Chr4:27003028 [GRCh38]
Chr4:27004650 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.542C>A (p.Ser181Tyr) single nucleotide variant not specified [RCV004181516] Chr4:26999264 [GRCh38]
Chr4:27000886 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1796C>T (p.Ser599Phe) single nucleotide variant not specified [RCV004191017] Chr4:27022551 [GRCh38]
Chr4:27024173 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.640T>A (p.Trp214Arg) single nucleotide variant not specified [RCV004103978] Chr4:27002231 [GRCh38]
Chr4:27003853 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.2234C>G (p.Ser745Cys) single nucleotide variant not specified [RCV004115037] Chr4:27022989 [GRCh38]
Chr4:27024611 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.61C>A (p.His21Asn) single nucleotide variant not specified [RCV004122362] Chr4:26861279 [GRCh38]
Chr4:26862901 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1540C>T (p.Arg514Cys) single nucleotide variant not specified [RCV004085496] Chr4:27017761 [GRCh38]
Chr4:27019383 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.95C>T (p.Ala32Val) single nucleotide variant not specified [RCV004155628] Chr4:26861313 [GRCh38]
Chr4:26862935 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.863G>A (p.Arg288His) single nucleotide variant not specified [RCV004176720] Chr4:27002986 [GRCh38]
Chr4:27004608 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.2080C>T (p.Arg694Cys) single nucleotide variant not specified [RCV004228371] Chr4:27022835 [GRCh38]
Chr4:27024457 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.43T>C (p.Cys15Arg) single nucleotide variant not specified [RCV004106449] Chr4:26861261 [GRCh38]
Chr4:26862883 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.145A>G (p.Met49Val) single nucleotide variant not specified [RCV004167253] Chr4:26861363 [GRCh38]
Chr4:26862985 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1970C>T (p.Thr657Ile) single nucleotide variant not specified [RCV004207398] Chr4:27022725 [GRCh38]
Chr4:27024347 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.707C>T (p.Thr236Met) single nucleotide variant not specified [RCV004202194] Chr4:27002298 [GRCh38]
Chr4:27003920 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.346G>A (p.Asp116Asn) single nucleotide variant not specified [RCV004105169] Chr4:26957675 [GRCh38]
Chr4:26959297 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.64C>T (p.Leu22Phe) single nucleotide variant not specified [RCV004174236] Chr4:26861282 [GRCh38]
Chr4:26862904 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1625G>A (p.Arg542Gln) single nucleotide variant not specified [RCV004095980] Chr4:27017846 [GRCh38]
Chr4:27019468 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1547G>A (p.Arg516His) single nucleotide variant not specified [RCV004181107] Chr4:27017768 [GRCh38]
Chr4:27019390 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1628A>C (p.His543Pro) single nucleotide variant not specified [RCV004089782] Chr4:27017849 [GRCh38]
Chr4:27019471 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1613C>T (p.Pro538Leu) single nucleotide variant not specified [RCV004223130] Chr4:27017834 [GRCh38]
Chr4:27019456 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1667C>T (p.Ser556Phe) single nucleotide variant not specified [RCV004216669] Chr4:27017888 [GRCh38]
Chr4:27019510 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) copy number loss 4p partial monosomy syndrome [RCV003155905] Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14		 pathogenic
NM_020860.4(STIM2):c.2081G>T (p.Arg694Leu) single nucleotide variant not specified [RCV004270702] Chr4:27022836 [GRCh38]
Chr4:27024458 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1561C>T (p.Pro521Ser) single nucleotide variant not specified [RCV004270073] Chr4:27017782 [GRCh38]
Chr4:27019404 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1298G>A (p.Arg433His) single nucleotide variant not specified [RCV004327346] Chr4:27008811 [GRCh38]
Chr4:27010433 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.892A>G (p.Lys298Glu) single nucleotide variant not specified [RCV004250563] Chr4:27003015 [GRCh38]
Chr4:27004637 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.146T>A (p.Met49Lys) single nucleotide variant not specified [RCV004322512] Chr4:26861364 [GRCh38]
Chr4:26862986 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.56C>G (p.Pro19Arg) single nucleotide variant not specified [RCV004326035] Chr4:26861274 [GRCh38]
Chr4:26862896 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.454C>G (p.Pro152Ala) single nucleotide variant not specified [RCV004331492] Chr4:26995435 [GRCh38]
Chr4:26997057 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
NM_020860.4(STIM2):c.233A>G (p.Gln78Arg) single nucleotide variant not specified [RCV004357046] Chr4:26919585 [GRCh38]
Chr4:26921207 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1100A>G (p.Asn367Ser) single nucleotide variant not specified [RCV004339514] Chr4:27007651 [GRCh38]
Chr4:27009273 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1362G>T (p.Leu454=) single nucleotide variant not provided [RCV003434994] Chr4:27008875 [GRCh38]
Chr4:27010497 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1919C>T (p.Ser640Leu) single nucleotide variant not specified [RCV004465599] Chr4:27022674 [GRCh38]
Chr4:27024296 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.907C>T (p.Arg303Trp) single nucleotide variant not specified [RCV004465602] Chr4:27003030 [GRCh38]
Chr4:27004652 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1712A>T (p.Tyr571Phe) single nucleotide variant not specified [RCV004465597] Chr4:27017933 [GRCh38]
Chr4:27019555 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.56C>T (p.Pro19Leu) single nucleotide variant not specified [RCV004465600] Chr4:26861274 [GRCh38]
Chr4:26862896 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1813G>A (p.Gly605Arg) single nucleotide variant not specified [RCV004465598] Chr4:27022568 [GRCh38]
Chr4:27024190 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1367C>T (p.Ser456Phe) single nucleotide variant not specified [RCV004668068] Chr4:27008880 [GRCh38]
Chr4:27010502 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1251G>C (p.Lys417Asn) single nucleotide variant not specified [RCV004681654] Chr4:27008764 [GRCh38]
Chr4:27010386 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1333A>G (p.Ile445Val) single nucleotide variant not specified [RCV004681653] Chr4:27008846 [GRCh38]
Chr4:27010468 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.1736C>A (p.Ala579Asp) single nucleotide variant not specified [RCV004668066] Chr4:27017957 [GRCh38]
Chr4:27019579 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.107C>T (p.Ser36Phe) single nucleotide variant not specified [RCV004668067] Chr4:26861325 [GRCh38]
Chr4:26862947 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.353A>G (p.His118Arg) single nucleotide variant not specified [RCV004668069] Chr4:26957682 [GRCh38]
Chr4:26959304 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_020860.4(STIM2):c.485A>G (p.Asn162Ser) single nucleotide variant not specified [RCV004357874] Chr4:26995466 [GRCh38]
Chr4:26997088 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4963
Count of miRNA genes:941
Interacting mature miRNAs:1135
Transcripts:ENST00000237364, ENST00000382009, ENST00000412829, ENST00000463501, ENST00000465503, ENST00000467011, ENST00000467087, ENST00000473519, ENST00000477474, ENST00000478049, ENST00000478425, ENST00000494628, ENST00000504511
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.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407044579GWAS693555_Henergy intake QTL GWAS693555 (human)0.000008energy intake42699937326999374Human
406902500GWAS551476_Hdocosapentaenoic acid measurement QTL GWAS551476 (human)0.0000006docosapentaenoic acid measurementblood free fatty acids level (CMO:0000117)42694269226942693Human
407386989GWAS1035965_Hacute myeloid leukemia QTL GWAS1035965 (human)1e-08leukocyte integrity trait (VT:0010898)42686508926865090Human
407388207GWAS1037183_Hacute myeloid leukemia QTL GWAS1037183 (human)3e-22leukocyte integrity trait (VT:0010898)42686508926865090Human

Markers in Region
D4S2857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37427,003,768 - 27,003,957UniSTSGRCh37
Build 36426,612,866 - 26,613,055RGDNCBI36
Celera427,452,984 - 27,453,173RGD
Cytogenetic Map4p15.2UniSTS
HuRef426,341,528 - 26,341,717UniSTS
TNG Radiation Hybrid Map417487.0UniSTS
Stanford-G3 RH Map41621.0UniSTS
Whitehead-RH Map4139.1UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map4282.6UniSTS
RH119523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37426,965,780 - 26,966,051UniSTSGRCh37
Build 36426,574,878 - 26,575,149RGDNCBI36
Celera427,415,021 - 27,415,292RGD
Cytogenetic Map4p15.2UniSTS
HuRef426,303,566 - 26,303,837UniSTS
TNG Radiation Hybrid Map41899.0UniSTS
SHGC-112388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37426,956,312 - 26,956,595UniSTSGRCh37
Build 36426,565,410 - 26,565,693RGDNCBI36
Celera427,405,561 - 27,405,844RGD
Cytogenetic Map4p15.2UniSTS
HuRef426,294,104 - 26,294,387UniSTS
TNG Radiation Hybrid Map41899.0UniSTS
SHGC-59200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37427,024,943 - 27,025,075UniSTSGRCh37
Build 36426,634,041 - 26,634,173RGDNCBI36
Celera427,474,160 - 27,474,292RGD
Cytogenetic Map4p15.2UniSTS
HuRef426,362,705 - 26,362,837UniSTS
GeneMap99-GB4 RH Map4110.63UniSTS
Whitehead-RH Map4139.1UniSTS
STIM2__5338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37427,024,245 - 27,025,128UniSTSGRCh37
Build 36426,633,343 - 26,634,226RGDNCBI36
Celera427,473,462 - 27,474,345RGD
HuRef426,362,007 - 26,362,889UniSTS
STS-T97323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37427,024,887 - 27,025,079UniSTSGRCh37
Build 36426,633,985 - 26,634,177RGDNCBI36
Celera427,474,104 - 27,474,296RGD
Cytogenetic Map4p15.2UniSTS
HuRef426,362,649 - 26,362,841UniSTS
GeneMap99-GB4 RH Map4111.69UniSTS
SHGC-36198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37427,026,854 - 27,026,986UniSTSGRCh37
Build 36426,635,952 - 26,636,084RGDNCBI36
Celera427,476,071 - 27,476,203RGD
Cytogenetic Map4p15.2UniSTS
HuRef426,364,615 - 26,364,747UniSTS
GeneMap99-G3 RH Map41607.0UniSTS
SHGC-60033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37427,026,766 - 27,026,918UniSTSGRCh37
Build 36426,635,864 - 26,636,016RGDNCBI36
Celera427,475,983 - 27,476,135RGD
Cytogenetic Map4p15.2UniSTS
HuRef426,364,527 - 26,364,679UniSTS
SHGC-59758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37427,024,851 - 27,025,044UniSTSGRCh37
Build 36426,633,949 - 26,634,142RGDNCBI36
Celera427,474,068 - 27,474,261RGD
Cytogenetic Map4p15.2UniSTS
HuRef426,362,613 - 26,362,806UniSTS
GeneMap99-GB4 RH Map4113.17UniSTS
NCBI RH Map4299.1UniSTS


Expression

RNA-SEQ Expression

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 4973 1726 2351 5 624 1951 465 2269 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001169117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001169118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB040915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC106047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF328905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC171766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU741823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX343313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000463501   ⟹   ENSP00000473283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl426,857,928 - 27,002,394 (+)Ensembl
Ensembl Acc Id: ENST00000465503   ⟹   ENSP00000417569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl426,860,841 - 27,023,966 (+)Ensembl
Ensembl Acc Id: ENST00000467011   ⟹   ENSP00000419383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl426,860,794 - 27,024,187 (+)Ensembl
Ensembl Acc Id: ENST00000467087   ⟹   ENSP00000419073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl426,860,841 - 27,025,381 (+)Ensembl
Ensembl Acc Id: ENST00000473519   ⟹   ENSP00000420113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl427,003,000 - 27,022,840 (+)Ensembl
Ensembl Acc Id: ENST00000477474   ⟹   ENSP00000419536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl426,857,601 - 27,023,947 (+)Ensembl
Ensembl Acc Id: ENST00000478049   ⟹   ENSP00000473581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl426,861,459 - 26,995,402 (+)Ensembl
Ensembl Acc Id: ENST00000478425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl426,858,248 - 26,858,919 (+)Ensembl
Ensembl Acc Id: ENST00000494628   ⟹   ENSP00000473527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl426,857,678 - 27,002,228 (+)Ensembl
Ensembl Acc Id: ENST00000504511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl427,021,282 - 27,022,661 (+)Ensembl
Ensembl Acc Id: ENST00000698882   ⟹   ENSP00000514004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl426,860,841 - 27,025,381 (+)Ensembl
RefSeq Acc Id: NM_001169117   ⟹   NP_001162588
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,860,841 - 27,025,381 (+)NCBI
GRCh37426,859,329 - 27,027,003 (+)NCBI
HuRef426,200,122 - 26,364,764 (+)ENTREZGENE
CHM1_1426,863,824 - 27,028,520 (+)NCBI
T2T-CHM13v2.0426,845,953 - 27,010,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001169118   ⟹   NP_001162589
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,860,841 - 27,025,381 (+)NCBI
GRCh37426,859,329 - 27,027,003 (+)NCBI
HuRef426,200,122 - 26,364,764 (+)ENTREZGENE
CHM1_1426,863,824 - 27,028,520 (+)NCBI
T2T-CHM13v2.0426,845,953 - 27,010,482 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020860   ⟹   NP_065911
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,860,841 - 27,025,381 (+)NCBI
GRCh37426,859,329 - 27,027,003 (+)NCBI
Build 36426,471,462 - 26,634,907 (+)NCBI Archive
HuRef426,200,122 - 26,364,764 (+)ENTREZGENE
CHM1_1426,863,824 - 27,028,520 (+)NCBI
T2T-CHM13v2.0426,845,953 - 27,010,482 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001162589   ⟸   NM_001169118
- Peptide Label: isoform 1 precursor
- UniProtKB: H0Y860 (UniProtKB/TrEMBL),   A0A1X7SBY3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001162588   ⟸   NM_001169117
- Peptide Label: isoform 3 precursor
- UniProtKB: H7C5A5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_065911   ⟸   NM_020860
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9BQH2 (UniProtKB/Swiss-Prot),   Q96BF1 (UniProtKB/Swiss-Prot),   B7ZVY0 (UniProtKB/Swiss-Prot),   A6H8L7 (UniProtKB/Swiss-Prot),   Q9H8R1 (UniProtKB/Swiss-Prot),   Q9P246 (UniProtKB/Swiss-Prot),   A0A1X7SBY3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000473283   ⟸   ENST00000463501
Ensembl Acc Id: ENSP00000419536   ⟸   ENST00000477474
Ensembl Acc Id: ENSP00000473581   ⟸   ENST00000478049
Ensembl Acc Id: ENSP00000417569   ⟸   ENST00000465503
Ensembl Acc Id: ENSP00000419073   ⟸   ENST00000467087
Ensembl Acc Id: ENSP00000419383   ⟸   ENST00000467011
Ensembl Acc Id: ENSP00000473527   ⟸   ENST00000494628
Ensembl Acc Id: ENSP00000420113   ⟸   ENST00000473519
Ensembl Acc Id: ENSP00000514004   ⟸   ENST00000698882
Protein Domains
EF-hand   SAM   Stromal interaction molecule Orai1-activating

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P246-F1-model_v2 AlphaFold Q9P246 1-746 view protein structure

Promoters
RGD ID:6812624
Promoter ID:HG_ACW:58726
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:STIM2.EAPR07,   STIM2.GAPR07-UNSPLICED,   STIM2.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36426,468,296 - 26,469,292 (+)MPROMDB
RGD ID:6802638
Promoter ID:HG_KWN:48009
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001169117,   NM_001169118,   NM_020860
Position:
Human AssemblyChrPosition (strand)Source
Build 36426,471,016 - 26,472,062 (+)MPROMDB
RGD ID:6867188
Promoter ID:EPDNEW_H6759
Type:multiple initiation site
Name:STIM2_3
Description:stromal interaction molecule 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6760  EPDNEW_H6761  EPDNEW_H6762  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,857,520 - 26,857,580EPDNEW
RGD ID:6867190
Promoter ID:EPDNEW_H6760
Type:initiation region
Name:STIM2_1
Description:stromal interaction molecule 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6759  EPDNEW_H6761  EPDNEW_H6762  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,860,651 - 26,860,711EPDNEW
RGD ID:6867192
Promoter ID:EPDNEW_H6761
Type:initiation region
Name:STIM2_2
Description:stromal interaction molecule 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6759  EPDNEW_H6760  EPDNEW_H6762  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,860,841 - 26,860,901EPDNEW
RGD ID:6867194
Promoter ID:EPDNEW_H6762
Type:initiation region
Name:STIM2_4
Description:stromal interaction molecule 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6759  EPDNEW_H6760  EPDNEW_H6761  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,861,296 - 26,861,356EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19205 AgrOrtholog
COSMIC STIM2 COSMIC
Ensembl Genes ENSG00000109689 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000463501.5 UniProtKB/TrEMBL
  ENST00000465503 ENTREZGENE
  ENST00000465503.6 UniProtKB/TrEMBL
  ENST00000467011 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000467011.6 UniProtKB/Swiss-Prot
  ENST00000467087 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000467087.7 UniProtKB/Swiss-Prot
  ENST00000473519.5 UniProtKB/TrEMBL
  ENST00000477474.3 UniProtKB/TrEMBL
  ENST00000478049.1 UniProtKB/TrEMBL
  ENST00000494628.6 UniProtKB/TrEMBL
  ENST00000698882.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.238.180 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.287.3550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.5.340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000109689 GTEx
HGNC ID HGNC:19205 ENTREZGENE
Human Proteome Map STIM2 Human Proteome Map
InterPro SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STIM2_SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57620 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 57620 ENTREZGENE
OMIM 610841 OMIM
PANTHER PTHR15136 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STROMAL INTERACTION MOLECULE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SAM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134926985 PharmGKB
PROSITE SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1X7SBY3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TMC8_HUMAN UniProtKB/TrEMBL
  A6H8L7 ENTREZGENE
  B3KUB5_HUMAN UniProtKB/TrEMBL
  B7ZVY0 ENTREZGENE
  H0Y860 ENTREZGENE, UniProtKB/TrEMBL
  H7C5A5 ENTREZGENE, UniProtKB/TrEMBL
  H7C5C6_HUMAN UniProtKB/TrEMBL
  H7C5K2_HUMAN UniProtKB/TrEMBL
  Q05BJ5_HUMAN UniProtKB/TrEMBL
  Q96BF1 ENTREZGENE
  Q9BQH2 ENTREZGENE
  Q9H8R1 ENTREZGENE
  Q9P246 ENTREZGENE
  R4GMP0_HUMAN UniProtKB/TrEMBL
  R4GN82_HUMAN UniProtKB/TrEMBL
  R4GNC5_HUMAN UniProtKB/TrEMBL
  STIM2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6H8L7 UniProtKB/Swiss-Prot
  B7ZVY0 UniProtKB/Swiss-Prot
  Q96BF1 UniProtKB/Swiss-Prot
  Q9BQH2 UniProtKB/Swiss-Prot
  Q9H8R1 UniProtKB/Swiss-Prot