OLFM2 (olfactomedin 2) - Rat Genome Database

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Advanced Search (OLGA)
Gene: OLFM2 (olfactomedin 2) Homo sapiens
Analyze
Symbol: OLFM2
Name: olfactomedin 2
RGD ID: 1320243
HGNC Page HGNC:17189
Description: Involved in positive regulation of smooth muscle cell differentiation. Acts upstream of or within protein secretion. Located in cytoplasm; extracellular region; and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: neuronal olfactomedin related ER localized protein 2; NOE2; noelin 2; noelin-2; NOELIN2; NOELIN2_V1; olfactomedin-2; OlfC
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
GRCh38199,853,718 - 9,936,515 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl199,853,718 - 9,936,515 (-)EnsemblGRCh38hg38GRCh38
GRCh37199,964,394 - 10,047,191 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36199,825,394 - 9,908,070 (-)NCBINCBI36Build 36hg18NCBI36
Build 34199,825,394 - 9,908,070NCBI
Celera199,859,823 - 9,942,535 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef199,545,037 - 9,627,331 (-)NCBIHuRef
CHM1_1199,964,109 - 10,046,786 (-)NCBICHM1_1
T2T-CHM13v2.0199,979,884 - 10,062,687 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
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
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:12477932   PMID:12766061   PMID:15057824   PMID:15123989   PMID:15489334   PMID:16169070   PMID:17122126   PMID:19554483   PMID:21102462   PMID:21228389  
PMID:21873635   PMID:21988832   PMID:25231870   PMID:25298399   PMID:25416956   PMID:25910212   PMID:26186194   PMID:27844144   PMID:28514442   PMID:28611215   PMID:29553861   PMID:32296183  
PMID:33961781   PMID:35806447   PMID:36949045   PMID:36982296   PMID:38350902  


Genomics

Comparative Map Data
OLFM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38199,853,718 - 9,936,515 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl199,853,718 - 9,936,515 (-)EnsemblGRCh38hg38GRCh38
GRCh37199,964,394 - 10,047,191 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36199,825,394 - 9,908,070 (-)NCBINCBI36Build 36hg18NCBI36
Build 34199,825,394 - 9,908,070NCBI
Celera199,859,823 - 9,942,535 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef199,545,037 - 9,627,331 (-)NCBIHuRef
CHM1_1199,964,109 - 10,046,786 (-)NCBICHM1_1
T2T-CHM13v2.0199,979,884 - 10,062,687 (-)NCBIT2T-CHM13v2.0
Olfm2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39920,578,986 - 20,657,660 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl920,578,986 - 20,657,645 (-)EnsemblGRCm39 Ensembl
GRCm38920,667,690 - 20,746,333 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl920,667,690 - 20,746,349 (-)EnsemblGRCm38mm10GRCm38
MGSCv37920,472,430 - 20,532,658 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36920,418,102 - 20,478,631 (-)NCBIMGSCv36mm8
Celera917,938,428 - 17,996,310 (-)NCBICelera
Cytogenetic Map9A3NCBI
cM Map97.6NCBI
Olfm2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8827,480,703 - 27,558,416 (-)NCBIGRCr8
mRatBN7.2819,204,472 - 19,282,154 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl819,204,475 - 19,282,117 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx823,224,798 - 23,283,196 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0821,522,638 - 21,581,036 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0819,434,221 - 19,493,166 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0821,684,307 - 21,762,000 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl821,681,266 - 21,743,338 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0821,740,363 - 21,818,045 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4819,685,433 - 19,746,974 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1819,685,433 - 19,746,974 (-)NCBI
Celera820,599,780 - 20,658,825 (-)NCBICelera
Cytogenetic Map8q13NCBI
Olfm2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554951,264,831 - 1,328,877 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554951,264,831 - 1,328,877 (-)NCBIChiLan1.0ChiLan1.0
OLFM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22014,772,348 - 14,855,375 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11913,774,905 - 13,855,608 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0199,408,161 - 9,488,855 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11910,071,375 - 10,151,178 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1910,071,375 - 10,151,183 (-)Ensemblpanpan1.1panPan2
OLFM2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12051,148,013 - 51,153,303 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2051,148,157 - 51,153,314 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2050,955,590 - 51,016,889 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02051,613,108 - 51,674,476 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2051,612,962 - 51,674,473 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12050,820,875 - 50,882,225 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02051,245,805 - 51,307,078 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02051,486,759 - 51,548,349 (+)NCBIUU_Cfam_GSD_1.0
Olfm2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118209,969,055 - 210,029,710 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936659325,436 - 372,225 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936659324,996 - 385,646 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OLFM2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl268,734,081 - 68,807,191 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1268,734,078 - 68,807,207 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2269,063,856 - 69,135,514 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OLFM2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.168,939,966 - 8,947,913 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl68,939,603 - 8,947,678 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607411,068,366 - 11,161,713 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Olfm2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248282,135,245 - 2,200,332 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248282,134,728 - 2,200,354 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OLFM2
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13		 likely pathogenic
NM_058164.3(OLFM2):c.173G>A (p.Arg58Gln) single nucleotide variant Malignant melanoma [RCV000072518] Chr19:9860685 [GRCh38]
Chr19:9971361 [GRCh37]
Chr19:9832361 [NCBI36]
Chr19:19p13.2		 not provided
NM_006221.3(PIN1):c.445C>T (p.Pro149Ser) single nucleotide variant Malignant melanoma [RCV000063683] Chr19:9849152 [GRCh38]
Chr19:9959828 [GRCh37]
Chr19:9820828 [NCBI36]
Chr19:19p13.2		 not provided
NM_001304347.1(OLFM2):c.135+10173G>A single nucleotide variant Lung cancer [RCV000101044] Chr19:9903310 [GRCh38]
Chr19:10013986 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 copy number loss See cases [RCV000135403] Chr19:9735443..11228001 [GRCh38]
Chr19:9846119..11338677 [GRCh37]
Chr19:9707119..11199677 [NCBI36]
Chr19:19p13.2		 pathogenic
GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1 copy number loss Breast ductal adenocarcinoma [RCV000207085] Chr19:8661944..10104083 [GRCh37]
Chr19:19p13.2		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207119] Chr19:9001833..10085054 [GRCh37]
Chr19:19p13.2		 likely pathogenic|uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_058164.4(OLFM2):c.677C>T (p.Ala226Val) single nucleotide variant not specified [RCV004332612] Chr19:9856817 [GRCh38]
Chr19:9967493 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
Single allele duplication Autism [RCV000754212] Chr19:7981357..10019383 [GRCh38]
Chr19:19p13.2		 likely pathogenic
NM_058164.4(OLFM2):c.688-153A>G single nucleotide variant not provided [RCV001709880] Chr19:9855016 [GRCh38]
Chr19:9965692 [GRCh37]
Chr19:19p13.2		 benign
NM_058164.4(OLFM2):c.299T>C (p.Met100Thr) single nucleotide variant not specified [RCV004289127] Chr19:9857776 [GRCh38]
Chr19:9968452 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.688-6C>T single nucleotide variant not provided [RCV000961608] Chr19:9854869 [GRCh38]
Chr19:9965545 [GRCh37]
Chr19:19p13.2		 benign
NM_058164.4(OLFM2):c.213+153dup duplication not provided [RCV001641516] Chr19:9860477..9860478 [GRCh38]
Chr19:9971153..9971154 [GRCh37]
Chr19:19p13.2		 benign
NM_058164.4(OLFM2):c.64-326_64-323del deletion not provided [RCV001644093] Chr19:9861117..9861120 [GRCh38]
Chr19:9971793..9971796 [GRCh37]
Chr19:19p13.2		 benign
NM_058164.4(OLFM2):c.-95CCGG[1] microsatellite not provided [RCV001614059] Chr19:9936454..9936457 [GRCh38]
Chr19:10047130..10047133 [GRCh37]
Chr19:19p13.2		 benign
NM_058164.4(OLFM2):c.317G>A (p.Arg106Gln) single nucleotide variant not provided [RCV001724964] Chr19:9857758 [GRCh38]
Chr19:9968434 [GRCh37]
Chr19:19p13.2		 benign
NM_058164.4(OLFM2):c.64-166A>G single nucleotide variant not provided [RCV001615924] Chr19:9860960 [GRCh38]
Chr19:9971636 [GRCh37]
Chr19:19p13.2		 benign
NM_058164.4(OLFM2):c.*39T>C single nucleotide variant not provided [RCV001649146] Chr19:9854147 [GRCh38]
Chr19:9964823 [GRCh37]
Chr19:19p13.2		 benign
NM_058164.4(OLFM2):c.1281C>T (p.Arg427=) single nucleotide variant not provided [RCV001637555] Chr19:9854270 [GRCh38]
Chr19:9964946 [GRCh37]
Chr19:19p13.2		 benign
NM_058164.4(OLFM2):c.-114G>T single nucleotide variant not provided [RCV001641495] Chr19:9936480 [GRCh38]
Chr19:10047156 [GRCh37]
Chr19:19p13.2		 benign
GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3 copy number gain not provided [RCV001259373] Chr19:8518395..10053298 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.380C>T (p.Thr127Met) single nucleotide variant not provided [RCV001653999] Chr19:9857463 [GRCh38]
Chr19:9968139 [GRCh37]
Chr19:19p13.2		 benign
NM_058164.4(OLFM2):c.687+54G>A single nucleotide variant not provided [RCV001710233] Chr19:9856753 [GRCh38]
Chr19:9967429 [GRCh37]
Chr19:19p13.2		 benign
GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3 copy number gain not provided [RCV001834267] Chr19:9941033..11739567 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.1249A>G (p.Ile417Val) single nucleotide variant not specified [RCV004301761] Chr19:9854302 [GRCh38]
Chr19:9964978 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.187C>T (p.Arg63Trp) single nucleotide variant not specified [RCV004332213] Chr19:9860671 [GRCh38]
Chr19:9971347 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.202C>A (p.Leu68Met) single nucleotide variant not specified [RCV004156380] Chr19:9860656 [GRCh38]
Chr19:9971332 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.685C>T (p.Arg229Trp) single nucleotide variant not specified [RCV004074507] Chr19:9856809 [GRCh38]
Chr19:9967485 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.721C>T (p.Arg241Trp) single nucleotide variant not specified [RCV004088656] Chr19:9854830 [GRCh38]
Chr19:9965506 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.160A>G (p.Ser54Gly) single nucleotide variant not specified [RCV004137873] Chr19:9860698 [GRCh38]
Chr19:9971374 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.4T>A (p.Trp2Arg) single nucleotide variant not specified [RCV004112872] Chr19:9936363 [GRCh38]
Chr19:10047039 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.922G>A (p.Gly308Ser) single nucleotide variant not specified [RCV004098518] Chr19:9854629 [GRCh38]
Chr19:9965305 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.176A>G (p.Asp59Gly) single nucleotide variant not specified [RCV004107233] Chr19:9860682 [GRCh38]
Chr19:9971358 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.697A>G (p.Met233Val) single nucleotide variant not specified [RCV004168556] Chr19:9854854 [GRCh38]
Chr19:9965530 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.598G>A (p.Gly200Arg) single nucleotide variant not specified [RCV004272665] Chr19:9856896 [GRCh38]
Chr19:9967572 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.1347C>A (p.Ser449Arg) single nucleotide variant not specified [RCV004308780] Chr19:9854204 [GRCh38]
Chr19:9964880 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.401C>G (p.Ser134Trp) single nucleotide variant not specified [RCV004361922] Chr19:9857442 [GRCh38]
Chr19:9968118 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.283G>A (p.Gly95Ser) single nucleotide variant not specified [RCV004348239] Chr19:9857792 [GRCh38]
Chr19:9968468 [GRCh37]
Chr19:19p13.2		 likely benign
NM_058164.4(OLFM2):c.886C>T (p.Arg296Cys) single nucleotide variant not specified [RCV004499084] Chr19:9854665 [GRCh38]
Chr19:9965341 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.322C>T (p.Arg108Trp) single nucleotide variant not specified [RCV004499079] Chr19:9857753 [GRCh38]
Chr19:9968429 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.859G>A (p.Val287Met) single nucleotide variant not specified [RCV004499083] Chr19:9854692 [GRCh38]
Chr19:9965368 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.188G>A (p.Arg63Gln) single nucleotide variant not specified [RCV004499078] Chr19:9860670 [GRCh38]
Chr19:9971346 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.619G>A (p.Val207Ile) single nucleotide variant not specified [RCV004499081] Chr19:9856875 [GRCh38]
Chr19:9967551 [GRCh37]
Chr19:19p13.2		 likely benign
NM_058164.4(OLFM2):c.746G>A (p.Gly249Glu) single nucleotide variant not specified [RCV004499082] Chr19:9854805 [GRCh38]
Chr19:9965481 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.1039G>C (p.Val347Leu) single nucleotide variant not specified [RCV004499077] Chr19:9854512 [GRCh38]
Chr19:9965188 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.1031A>G (p.Asn344Ser) single nucleotide variant not specified [RCV004655147] Chr19:9854520 [GRCh38]
Chr19:9965196 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.553C>T (p.Arg185Trp) single nucleotide variant not specified [RCV004655149] Chr19:9857290 [GRCh38]
Chr19:9967966 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.1036G>A (p.Val346Met) single nucleotide variant not specified [RCV004646138] Chr19:9854515 [GRCh38]
Chr19:9965191 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.914C>T (p.Pro305Leu) single nucleotide variant not specified [RCV004646139] Chr19:9854637 [GRCh38]
Chr19:9965313 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_058164.4(OLFM2):c.881G>A (p.Arg294His) single nucleotide variant not specified [RCV004655148] Chr19:9854670 [GRCh38]
Chr19:9965346 [GRCh37]
Chr19:19p13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1346
Count of miRNA genes:628
Interacting mature miRNAs:698
Transcripts:ENST00000264833, ENST00000590410, ENST00000590841, ENST00000592448, ENST00000593091
Prediction methods: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
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
407171945GWAS820921_Happendicular lean mass QTL GWAS820921 (human)3e-16appendicular lean mass1998902499890250Human
406950446GWAS599422_Hage at menarche QTL GWAS599422 (human)2e-13age at menarche1998851919885192Human
407115243GWAS764219_Hbody height QTL GWAS764219 (human)1e-08body height (VT:0001253)body height (CMO:0000106)1999158749915875Human
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
406984946GWAS633922_Hsleep duration QTL GWAS633922 (human)1e-10sleep duration1998577589857759Human
407051731GWAS700707_Hage at menarche QTL GWAS700707 (human)0.0000002age at menarche1998896469889647Human
406953328GWAS602304_Hprotein measurement QTL GWAS602304 (human)8e-17protein measurement1999286959928696Human
407101334GWAS750310_Hage at menarche QTL GWAS750310 (human)4e-31age at menarche1998810599881060Human
407193331GWAS842307_Heducational attainment QTL GWAS842307 (human)2e-08educational attainment1998577589857759Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
406961373GWAS610349_Hage at menarche QTL GWAS610349 (human)0.000001age at menarche1998896469889647Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human

Markers in Region
RH47787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,027,108 - 10,027,285UniSTSGRCh37
Build 36199,888,108 - 9,888,285RGDNCBI36
Celera199,922,574 - 9,922,751RGD
Cytogenetic Map19p13.2UniSTS
HuRef199,607,369 - 9,607,546UniSTS
GeneMap99-GB4 RH Map1965.68UniSTS
RH47931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37199,964,407 - 9,964,562UniSTSGRCh37
Build 36199,825,407 - 9,825,562RGDNCBI36
Celera199,859,836 - 9,859,991RGD
Cytogenetic Map19p13.2UniSTS
HuRef199,545,050 - 9,545,205UniSTS
GeneMap99-GB4 RH Map1965.68UniSTS
D19S1061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,008,219 - 10,008,401UniSTSGRCh37
Build 36199,869,219 - 9,869,401RGDNCBI36
Celera199,903,622 - 9,903,804RGD
Cytogenetic Map19p13.2UniSTS
HuRef199,588,846 - 9,589,028UniSTS
TNG Radiation Hybrid Map193098.0UniSTS
Stanford-G3 RH Map1968.0UniSTS
NCBI RH Map1988.1UniSTS
MARC_7983-7984:996688212:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37199,968,091 - 9,968,513UniSTSGRCh37
Build 36199,829,091 - 9,829,513RGDNCBI36
Celera199,863,519 - 9,863,941RGD
HuRef199,548,733 - 9,549,155UniSTS
OLFM2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37199,965,073 - 9,965,256UniSTSGRCh37
Celera199,860,502 - 9,860,685UniSTS
HuRef199,545,716 - 9,545,899UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2426 2788 2238 4967 1724 2344 5 623 1766 465 2268 7111 6289 52 3731 848 1741 1610 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001304347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_058164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL535795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL538120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE252295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI907480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK001428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ069013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX406452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX437233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264833   ⟹   ENSP00000264833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl199,853,718 - 9,936,515 (-)Ensembl
Ensembl Acc Id: ENST00000590410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl199,857,208 - 9,936,324 (-)Ensembl
Ensembl Acc Id: ENST00000590841   ⟹   ENSP00000464877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl199,853,745 - 9,858,168 (-)Ensembl
Ensembl Acc Id: ENST00000592448   ⟹   ENSP00000466018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl199,854,551 - 9,858,146 (-)Ensembl
Ensembl Acc Id: ENST00000593091   ⟹   ENSP00000465809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl199,853,718 - 9,913,836 (-)Ensembl
RefSeq Acc Id: NM_001304347   ⟹   NP_001291276
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38199,853,718 - 9,913,801 (-)NCBI
CHM1_1199,964,109 - 10,024,103 (-)NCBI
T2T-CHM13v2.0199,979,884 - 10,039,976 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001304348   ⟹   NP_001291277
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38199,853,718 - 9,858,175 (-)NCBI
CHM1_1199,964,109 - 9,968,559 (-)NCBI
T2T-CHM13v2.0199,979,884 - 9,984,341 (-)NCBI
Sequence:
RefSeq Acc Id: NM_058164   ⟹   NP_477512
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38199,853,718 - 9,936,515 (-)NCBI
GRCh37199,964,394 - 10,047,070 (-)RGD
Build 36199,825,394 - 9,908,070 (-)NCBI Archive
Celera199,859,823 - 9,942,535 (-)RGD
HuRef199,545,037 - 9,627,331 (-)ENTREZGENE
CHM1_1199,964,109 - 10,046,964 (-)NCBI
T2T-CHM13v2.0199,979,884 - 10,062,687 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439713   ⟹   XP_047295669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38199,853,718 - 9,863,521 (-)NCBI
RefSeq Acc Id: XM_054322669   ⟹   XP_054178644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0199,979,884 - 9,989,680 (-)NCBI
RefSeq Acc Id: NP_477512   ⟸   NM_058164
- Peptide Label: isoform 2 precursor
- UniProtKB: Q6IMJ3 (UniProtKB/Swiss-Prot),   Q96FC2 (UniProtKB/Swiss-Prot),   O95897 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291276   ⟸   NM_001304347
- Peptide Label: isoform 1
- UniProtKB: K7EKW2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001291277   ⟸   NM_001304348
- Peptide Label: isoform 3
- UniProtKB: K7EIS8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000464877   ⟸   ENST00000590841
Ensembl Acc Id: ENSP00000466018   ⟸   ENST00000592448
Ensembl Acc Id: ENSP00000465809   ⟸   ENST00000593091
Ensembl Acc Id: ENSP00000264833   ⟸   ENST00000264833
RefSeq Acc Id: XP_047295669   ⟸   XM_047439713
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054178644   ⟸   XM_054322669
- Peptide Label: isoform X1
Protein Domains
Noelin   Olfactomedin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95897-F1-model_v2 AlphaFold O95897 1-454 view protein structure

Promoters
RGD ID:6811702
Promoter ID:HG_ACW:39800
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   NB4
Transcripts:OLFM2.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36199,886,161 - 9,886,661 (-)MPROMDB
RGD ID:7238419
Promoter ID:EPDNEW_H24956
Type:initiation region
Name:OLFM2_2
Description:olfactomedin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24957  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38199,936,390 - 9,936,450EPDNEW
RGD ID:7238423
Promoter ID:EPDNEW_H24957
Type:initiation region
Name:OLFM2_1
Description:olfactomedin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24956  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38199,936,510 - 9,936,570EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17189 AgrOrtholog
COSMIC OLFM2 COSMIC
Ensembl Genes ENSG00000105088 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264833 ENTREZGENE
  ENST00000264833.9 UniProtKB/Swiss-Prot
  ENST00000590841 ENTREZGENE
  ENST00000590841.5 UniProtKB/TrEMBL
  ENST00000592448.1 UniProtKB/TrEMBL
  ENST00000593091 ENTREZGENE
  ENST00000593091.2 UniProtKB/TrEMBL
GTEx ENSG00000105088 GTEx
HGNC ID HGNC:17189 ENTREZGENE
Human Proteome Map OLFM2 Human Proteome Map
InterPro Noelin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Olfac-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Olfactomedin-like_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:93145 UniProtKB/Swiss-Prot
NCBI Gene 93145 ENTREZGENE
OMIM 617492 OMIM
PANTHER OLFACTOMEDIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23192:SF27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Noelin-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OLF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31916 PharmGKB
PROSITE OLF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART OLF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt K7EIS8 ENTREZGENE, UniProtKB/TrEMBL
  K7EKW2 ENTREZGENE, UniProtKB/TrEMBL
  K7ELC6_HUMAN UniProtKB/TrEMBL
  L8E9J3_HUMAN UniProtKB/TrEMBL
  NOE2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6IMJ3 ENTREZGENE
  Q96FC2 ENTREZGENE
UniProt Secondary Q6IMJ3 UniProtKB/Swiss-Prot
  Q96FC2 UniProtKB/Swiss-Prot