ORM2 (orosomucoid 2) - Rat Genome Database

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Gene: ORM2 (orosomucoid 2) Homo sapiens
Analyze
Symbol: ORM2
Name: orosomucoid 2
RGD ID: 737236
HGNC Page HGNC:8499
Description: Involved in positive regulation of interleukin-1 beta production and positive regulation of tumor necrosis factor production. Located in extracellular space.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AGP 2; AGP-B; AGP-B'; AGP2; alpha-1-acid glycoprotein 2; alpha-1-acid glycoprotein, type 2; OMD 2; orosomucoid-2
RGD Orthologs
Mouse
Bonobo
Dog
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
GRCh389114,329,869 - 114,333,251 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9114,329,869 - 114,333,251 (+)EnsemblGRCh38hg38GRCh38
GRCh379117,092,149 - 117,095,531 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369116,131,890 - 116,135,357 (+)NCBINCBI36Build 36hg18NCBI36
Build 349114,171,622 - 114,175,090NCBI
Celera987,739,746 - 87,743,213 (+)NCBICelera
Cytogenetic Map9q32NCBI
HuRef986,697,534 - 86,701,001 (+)NCBIHuRef
CHM1_19117,238,789 - 117,242,256 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
atrazine  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP)
benzoic acid  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP)
buta-1,3-diene  (ISO)
cadmium atom  (EXP)
caffeine  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpromazine  (EXP)
cholic acid  (ISO)
ciprofibrate  (ISO)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cyproconazole  (ISO)
dexamethasone  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
dipyridamole  (EXP)
disopyramide  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP)
fenofibrate  (ISO)
folic acid  (EXP)
graphene oxide  (ISO)
imipramine  (EXP)
inulin  (ISO)
lead(0)  (EXP)
lidocaine  (EXP)
lipopolysaccharide  (ISO)
lithocholic acid  (ISO)
MeIQ  (ISO)
methadone  (EXP)
methidathion  (ISO)
methyl methanesulfonate  (ISO)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
naphthalene  (ISO)
nickel atom  (EXP)
O-methyleugenol  (EXP)
okadaic acid  (ISO)
ozone  (ISO)
palytoxin  (ISO)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP,ISO)
propiconazole  (ISO)
quercetin  (EXP)
ritodrine  (ISO)
rotenone  (ISO)
saccharin  (ISO)
senecionine  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (EXP)
titanium dioxide  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
urethane  (ISO)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP)
zinc atom  (EXP)
zinc dichloride  (ISO)
zinc(0)  (EXP)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1567356   PMID:2822385   PMID:2970990   PMID:3631077   PMID:3679210   PMID:4603214   PMID:4711474   PMID:7795416   PMID:8774350   PMID:9455924   PMID:11336643   PMID:11587070  
PMID:11752456   PMID:12477932   PMID:12480518   PMID:12528117   PMID:14760718   PMID:15084671   PMID:15253437   PMID:15489334   PMID:15863355   PMID:16290938   PMID:16331959   PMID:16335952  
PMID:16502470   PMID:17048007   PMID:17207965   PMID:17987628   PMID:19018521   PMID:19584153   PMID:19958090   PMID:20237496   PMID:20617306   PMID:21638284   PMID:21873635   PMID:21988832  
PMID:22363757   PMID:22516433   PMID:23533145   PMID:23867815   PMID:24359035   PMID:24389491   PMID:25408356   PMID:25965830   PMID:26186194   PMID:27559042   PMID:28193696   PMID:28514442  
PMID:28554261   PMID:28621608   PMID:30600953   PMID:33961781   PMID:34963738   PMID:36198834   PMID:36501194   PMID:36964488  


Genomics

Comparative Map Data
ORM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389114,329,869 - 114,333,251 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9114,329,869 - 114,333,251 (+)EnsemblGRCh38hg38GRCh38
GRCh379117,092,149 - 117,095,531 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369116,131,890 - 116,135,357 (+)NCBINCBI36Build 36hg18NCBI36
Build 349114,171,622 - 114,175,090NCBI
Celera987,739,746 - 87,743,213 (+)NCBICelera
Cytogenetic Map9q32NCBI
HuRef986,697,534 - 86,701,001 (+)NCBIHuRef
CHM1_19117,238,789 - 117,242,256 (+)NCBICHM1_1
Orm2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39463,280,543 - 63,284,114 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl463,280,686 - 63,284,115 (+)EnsemblGRCm39 Ensembl
GRCm38463,362,449 - 63,365,877 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl463,362,449 - 63,365,878 (+)EnsemblGRCm38mm10GRCm38
MGSCv37463,023,483 - 63,026,911 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36462,848,846 - 62,852,238 (+)NCBIMGSCv36mm8
Celera462,021,916 - 62,025,338 (+)NCBICelera
Cytogenetic Map4B3NCBI
cM Map433.96NCBI
ORM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21125,041,314 - 25,049,058 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1925,043,598 - 25,051,389 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0985,428,024 - 85,431,421 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
LOC100685620
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11168,557,340 - 68,560,079 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1166,959,434 - 66,962,159 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01169,680,914 - 69,683,640 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11168,196,336 - 68,199,058 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01168,237,617 - 68,240,335 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01168,966,759 - 68,969,484 (+)NCBIUU_Cfam_GSD_1.0

Variants

.
Variants in ORM2
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q32(chr9:114246876-114637081)x3 copy number gain See cases [RCV000052236] Chr9:114246876..114637081 [GRCh38]
Chr9:117009156..117399361 [GRCh37]
Chr9:116048977..116439182 [NCBI36]
Chr9:9q32
uncertain significance
GRCh38/hg38 9q32(chr9:114270395-114677524)x3 copy number gain See cases [RCV000052237] Chr9:114270395..114677524 [GRCh38]
Chr9:117032675..117439804 [GRCh37]
Chr9:116072496..116479625 [NCBI36]
Chr9:9q32
uncertain significance
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q32(chr9:114246889-114637174)x3 copy number gain See cases [RCV000138841] Chr9:114246889..114637174 [GRCh38]
Chr9:117009169..117399454 [GRCh37]
Chr9:116048990..116439275 [NCBI36]
Chr9:9q32
likely benign
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1 copy number loss See cases [RCV000140794] Chr9:107530314..117965944 [GRCh38]
Chr9:110292595..120728222 [GRCh37]
Chr9:109332416..119768043 [NCBI36]
Chr9:9q31.2-33.1
pathogenic
GRCh38/hg38 9q32(chr9:114193726-114677465)x3 copy number gain See cases [RCV000140795] Chr9:114193726..114677465 [GRCh38]
Chr9:116956006..117439745 [GRCh37]
Chr9:115995827..116479566 [NCBI36]
Chr9:9q32
benign
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q32(chr9:116978042-117187294)x1 copy number loss See cases [RCV000240427] Chr9:116978042..117187294 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1 copy number loss See cases [RCV000449308] Chr9:111348809..118687200 [GRCh37]
Chr9:9q31.3-33.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1 copy number loss See cases [RCV000511049] Chr9:114299780..123267736 [GRCh37]
Chr9:9q31.3-33.2
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3
pathogenic
GRCh37/hg19 9q32(chr9:117054195-117502242)x3 copy number gain not provided [RCV000748633] Chr9:117054195..117502242 [GRCh37]
Chr9:9q32
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000608.4(ORM2):c.480C>T (p.Tyr160=) single nucleotide variant not provided [RCV000902056] Chr9:114331869 [GRCh38]
Chr9:117094149 [GRCh37]
Chr9:9q32
benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q32(chr9:116936770-117450535)x3 copy number gain not provided [RCV000848120] Chr9:116936770..117450535 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1 copy number loss not provided [RCV000847543] Chr9:113982711..117443628 [GRCh37]
Chr9:9q31.3-32
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
GRCh37/hg19 9q32(chr9:116642144-117613527)x1 copy number loss not provided [RCV001006255] Chr9:116642144..117613527 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1
uncertain significance
NC_000009.11:g.(?_116956664)_(117267081_?)dup duplication not provided [RCV001339460] Chr9:116956664..117267081 [GRCh37]
Chr9:9q32
uncertain significance
GRCh37/hg19 9q32-33.1(chr9:116506015-119942279) copy number loss not specified [RCV002052832] Chr9:116506015..119942279 [GRCh37]
Chr9:9q32-33.1
uncertain significance
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q31.2-32(chr9:109265628-117650999) copy number loss not specified [RCV002052828] Chr9:109265628..117650999 [GRCh37]
Chr9:9q31.2-32
likely pathogenic
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2
likely pathogenic
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11
pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11
pathogenic
NM_000608.4(ORM2):c.493T>G (p.Cys165Gly) single nucleotide variant not specified [RCV004142131] Chr9:114331882 [GRCh38]
Chr9:117094162 [GRCh37]
Chr9:9q32
uncertain significance
NM_000608.4(ORM2):c.571G>A (p.Glu191Lys) single nucleotide variant not specified [RCV004090304] Chr9:114333099 [GRCh38]
Chr9:117095379 [GRCh37]
Chr9:9q32
uncertain significance
NM_000608.4(ORM2):c.565C>A (p.Gln189Lys) single nucleotide variant not specified [RCV004150389] Chr9:114333093 [GRCh38]
Chr9:117095373 [GRCh37]
Chr9:9q32
uncertain significance
NM_000608.4(ORM2):c.79G>C (p.Val27Leu) single nucleotide variant not specified [RCV004200740] Chr9:114329983 [GRCh38]
Chr9:117092263 [GRCh37]
Chr9:9q32
uncertain significance
NM_000608.4(ORM2):c.538A>C (p.Lys180Gln) single nucleotide variant not specified [RCV004140840] Chr9:114331927 [GRCh38]
Chr9:117094207 [GRCh37]
Chr9:9q32
uncertain significance
NM_000608.4(ORM2):c.301C>T (p.Arg101Trp) single nucleotide variant not specified [RCV004225801] Chr9:114330835 [GRCh38]
Chr9:117093115 [GRCh37]
Chr9:9q32
uncertain significance
NM_000608.4(ORM2):c.187C>G (p.Gln63Glu) single nucleotide variant not specified [RCV004277167] Chr9:114330506 [GRCh38]
Chr9:117092786 [GRCh37]
Chr9:9q32
uncertain significance
NM_000608.4(ORM2):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004263538] Chr9:114329909 [GRCh38]
Chr9:117092189 [GRCh37]
Chr9:9q32
uncertain significance
NM_000608.4(ORM2):c.596G>A (p.Gly199Glu) single nucleotide variant not specified [RCV004256067] Chr9:114333124 [GRCh38]
Chr9:117095404 [GRCh37]
Chr9:9q32
likely benign
NM_000608.4(ORM2):c.100G>A (p.Ala34Thr) single nucleotide variant not specified [RCV004260615] Chr9:114330004 [GRCh38]
Chr9:117092284 [GRCh37]
Chr9:9q32
uncertain significance
NM_000608.4(ORM2):c.384G>C (p.Leu128Phe) single nucleotide variant not specified [RCV004345968] Chr9:114331622 [GRCh38]
Chr9:117093902 [GRCh37]
Chr9:9q32
likely benign
NM_000608.4(ORM2):c.49G>A (p.Glu17Lys) single nucleotide variant not specified [RCV004341267] Chr9:114329953 [GRCh38]
Chr9:117092233 [GRCh37]
Chr9:9q32
uncertain significance
NM_000608.4(ORM2):c.112C>T (p.Arg38Trp) single nucleotide variant not specified [RCV004339602] Chr9:114330016 [GRCh38]
Chr9:117092296 [GRCh37]
Chr9:9q32
likely benign
NM_000608.4(ORM2):c.19C>T (p.Leu7Phe) single nucleotide variant not provided [RCV003430213] Chr9:114329923 [GRCh38]
Chr9:117092203 [GRCh37]
Chr9:9q32
likely benign
NM_000608.4(ORM2):c.405C>T (p.Asp135=) single nucleotide variant not provided [RCV003430214] Chr9:114331643 [GRCh38]
Chr9:117093923 [GRCh37]
Chr9:9q32
likely benign
GRCh37/hg19 9q32(chr9:117037819-117102046)x1 copy number loss not specified [RCV003986841] Chr9:117037819..117102046 [GRCh37]
Chr9:9q32
uncertain significance
NM_000608.4(ORM2):c.157G>A (p.Glu53Lys) single nucleotide variant not specified [RCV004502359] Chr9:114330476 [GRCh38]
Chr9:117092756 [GRCh37]
Chr9:9q32
uncertain significance
NM_000608.4(ORM2):c.490G>C (p.Asp164His) single nucleotide variant not specified [RCV004502360] Chr9:114331879 [GRCh38]
Chr9:117094159 [GRCh37]
Chr9:9q32
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:471
Count of miRNA genes:385
Interacting mature miRNAs:405
Transcripts:ENST00000412657, ENST00000431067
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
G17343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379117,090,600 - 117,090,768UniSTSGRCh37
GRCh379117,097,379 - 117,097,547UniSTSGRCh37
Build 369116,130,421 - 116,130,589RGDNCBI36
Celera987,745,054 - 87,745,222UniSTS
Celera987,738,277 - 87,738,445RGD
Cytogenetic Map9q32UniSTS
HuRef986,702,657 - 86,702,825UniSTS
HuRef986,696,064 - 86,696,232UniSTS
G62008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379117,092,210 - 117,092,750UniSTSGRCh37
GRCh379117,085,439 - 117,085,979UniSTSGRCh37
Build 369116,125,260 - 116,125,800RGDNCBI36
Celera987,739,887 - 87,740,427UniSTS
Celera987,733,114 - 87,733,654RGD
Cytogenetic Map9q32UniSTS
Cytogenetic Map9q31-q32UniSTS
HuRef986,691,054 - 86,691,594UniSTS
HuRef986,697,675 - 86,698,215UniSTS
STS-X05784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379117,095,350 - 117,095,516UniSTSGRCh37
GRCh379117,088,573 - 117,088,739UniSTSGRCh37
Build 369116,128,394 - 116,128,560RGDNCBI36
Celera987,743,027 - 87,743,193UniSTS
Celera987,736,248 - 87,736,414RGD
Cytogenetic Map9q31-q32UniSTS
Cytogenetic Map9q32UniSTS
HuRef986,700,815 - 86,700,981UniSTS
HuRef986,694,188 - 86,694,354UniSTS
GeneMap99-GB4 RH Map9357.94UniSTS
RH11587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379117,094,190 - 117,095,504UniSTSGRCh37
GRCh379117,087,413 - 117,088,727UniSTSGRCh37
Celera987,735,088 - 87,736,402UniSTS
Celera987,741,867 - 87,743,181UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map9q31-q32UniSTS
HuRef986,699,655 - 86,700,969UniSTS
HuRef986,693,028 - 86,694,342UniSTS
GeneMap99-GB4 RH Map9363.14UniSTS
NCBI RH Map91018.7UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 346 346 1 346 1
Medium 170 212 115 91 241 91 43 6 2 2 109 100 64 5
Low 550 943 472 52 1100 11 962 273 341 25 753 727 42 582 347 2
Below cutoff 1116 1120 567 101 251 8 1889 1098 2153 206 400 494 97 463 1317

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK303760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV661485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M21540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000431067   ⟹   ENSP00000394936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,329,869 - 114,333,251 (+)Ensembl
RefSeq Acc Id: NM_000608   ⟹   NP_000599
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,329,869 - 114,333,251 (+)NCBI
GRCh379117,092,069 - 117,095,536 (+)ENTREZGENE
Build 369116,131,890 - 116,135,357 (+)NCBI Archive
HuRef986,697,534 - 86,701,001 (+)ENTREZGENE
CHM1_19117,238,789 - 117,242,256 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000599   ⟸   NM_000608
- Peptide Label: precursor
- UniProtKB: Q5T538 (UniProtKB/Swiss-Prot),   Q16571 (UniProtKB/Swiss-Prot),   B2R5L2 (UniProtKB/Swiss-Prot),   Q6IB74 (UniProtKB/Swiss-Prot),   P19652 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000394936   ⟸   ENST00000431067

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P19652-F1-model_v2 AlphaFold P19652 1-201 view protein structure

Promoters
RGD ID:7215965
Promoter ID:EPDNEW_H13727
Type:initiation region
Name:ORM2_1
Description:orosomucoid 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,329,869 - 114,329,929EPDNEW
RGD ID:6849622
Promoter ID:EP60006
Type:single initiation site
Name:HS_ORM2
Description:alpha 1-acid glycoprotein 2, Orosomucoid 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 153; Mammalian alpha 1-acid glycoprotein.
Experiment Methods:Nuclease protection; Primer extension; Nuclease protection; transfected or transformed cells; Primer extension; transgenic organisms
Regulation:liver; (induced by or strongly expressed in) acute phase
Position:No map positions available.

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8499 AgrOrtholog
COSMIC ORM2 COSMIC
Ensembl Genes ENSG00000228278 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000431067 ENTREZGENE
  ENST00000431067.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.128.20 UniProtKB/Swiss-Prot
GTEx ENSG00000228278 GTEx
HGNC ID HGNC:8499 ENTREZGENE
Human Proteome Map ORM2 Human Proteome Map
InterPro A1A_glycop UniProtKB/Swiss-Prot
  Calycin UniProtKB/Swiss-Prot
  Lipocln_cytosolic_FA-bd_dom UniProtKB/Swiss-Prot
KEGG Report hsa:5005 UniProtKB/Swiss-Prot
NCBI Gene 5005 ENTREZGENE
OMIM 138610 OMIM
PANTHER ALPHA-1-ACID GLYCOPROTEIN UniProtKB/Swiss-Prot
  ALPHA-1-ACID GLYCOPROTEIN 2 UniProtKB/Swiss-Prot
Pfam Lipocalin UniProtKB/Swiss-Prot
PharmGKB ORM2 RGD, PharmGKB
PIRSF AGP UniProtKB/Swiss-Prot
PRINTS A1AGLPROTEIN UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50814 UniProtKB/Swiss-Prot
UniProt A1AG2_HUMAN UniProtKB/Swiss-Prot
  B2R5L2 ENTREZGENE
  P19652 ENTREZGENE
  Q16571 ENTREZGENE
  Q5T538 ENTREZGENE
  Q6IB74 ENTREZGENE
UniProt Secondary B2R5L2 UniProtKB/Swiss-Prot
  Q16571 UniProtKB/Swiss-Prot
  Q5T538 UniProtKB/Swiss-Prot
  Q6IB74 UniProtKB/Swiss-Prot