PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2) - Rat Genome Database
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Gene: PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2) Homo sapiens
Analyze
Symbol: PLOD2
Name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
RGD ID: 1606836
HGNC Page HGNC
Description: Exhibits procollagen-lysine 5-dioxygenase activity. Involved in hydroxylysine biosynthetic process; peptidyl-lysine hydroxylation; and response to hypoxia. Localizes to extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BRKS2; LH2; lysine hydroxylase 2; lysyl hydroxlase 2; lysyl hydroxylase 2; procollagen-lysine 5-dioxygenase; procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2; telopeptide lysyl hydroxylase; TLH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3146,069,440 - 146,163,653 (-)EnsemblGRCh38hg38GRCh38
GRCh383146,069,437 - 146,161,184 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373145,787,225 - 145,879,282 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363147,269,917 - 147,361,972 (-)NCBINCBI36hg18NCBI36
Celera3144,204,566 - 144,296,620 (-)NCBI
Cytogenetic Map3q24NCBI
HuRef3143,164,166 - 143,256,088 (-)NCBIHuRef
CHM1_13145,750,160 - 145,842,267 (-)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
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin M1  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bexarotene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
cadmium dichloride  (ISO)
cadmium sulfate  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
choline  (ISO)
ciglitazone  (ISO)
cisplatin  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
dicrotophos  (EXP)
dimethyl sulfoxide  (ISO)
dioxygen  (EXP)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxifluridine  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
folic acid  (EXP,ISO)
fonofos  (EXP)
furan  (ISO)
genistein  (ISO)
glucose  (ISO)
isoniazide  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
medroxyprogesterone acetate  (EXP)
mercury dibromide  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mifepristone  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
parathion  (EXP)
pentane-2,3-dione  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
phosgene  (ISO)
progesterone  (ISO)
protein kinase inhibitor  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
Salinomycin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenate  (EXP,ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
Tanshinone I  (EXP)
terbufos  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
trichostatin A  (EXP)
triclosan  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
Tungsten carbide  (EXP)
valproic acid  (EXP)
vandetanib  (EXP)
vitamin E  (EXP)
vorinostat  (EXP)
Yessotoxin  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8889548   PMID:9054364   PMID:9271685   PMID:9582318   PMID:10372558   PMID:10701773   PMID:10748089   PMID:10934207   PMID:11334715   PMID:11956192   PMID:12477932   PMID:12881513  
PMID:15174142   PMID:15489334   PMID:15523624   PMID:15523625   PMID:15589118   PMID:15694128   PMID:15955452   PMID:16934803   PMID:17353931   PMID:17643375   PMID:18854154   PMID:19110540  
PMID:19199708   PMID:19762917   PMID:19913121   PMID:20131247   PMID:20360068   PMID:20628086   PMID:20628624   PMID:20811636   PMID:21873635   PMID:21942715   PMID:22020285   PMID:22098155  
PMID:22190034   PMID:22268729   PMID:22689593   PMID:22863883   PMID:23097496   PMID:23246001   PMID:23251661   PMID:23423382   PMID:23666869   PMID:23906982   PMID:24192939   PMID:25036637  
PMID:25609649   PMID:25664850   PMID:25796446   PMID:26344197   PMID:26432637   PMID:26496610   PMID:26638075   PMID:26983694   PMID:27298363   PMID:27310702   PMID:27342126   PMID:27555664  
PMID:27803159   PMID:28279775   PMID:28410212   PMID:28415047   PMID:28423580   PMID:28514442   PMID:28986522   PMID:29072684   PMID:29177700   PMID:29178448   PMID:29229926   PMID:29410444  
PMID:29603227   PMID:30021884   PMID:30105440   PMID:30167909   PMID:30563531   PMID:30809309   PMID:30833792   PMID:30942445   PMID:31073040   PMID:31091453   PMID:31391253   PMID:31446433  
PMID:31455288   PMID:31586073   PMID:31872384   PMID:32203420   PMID:32252199   PMID:32353859   PMID:33060197  


Genomics

Comparative Map Data
PLOD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3146,069,440 - 146,163,653 (-)EnsemblGRCh38hg38GRCh38
GRCh383146,069,437 - 146,161,184 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373145,787,225 - 145,879,282 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363147,269,917 - 147,361,972 (-)NCBINCBI36hg18NCBI36
Celera3144,204,566 - 144,296,620 (-)NCBI
Cytogenetic Map3q24NCBI
HuRef3143,164,166 - 143,256,088 (-)NCBIHuRef
CHM1_13145,750,160 - 145,842,267 (-)NCBICHM1_1
Plod2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39992,421,828 - 92,490,481 (+)NCBIGRCm39mm39
GRCm38992,539,636 - 92,608,428 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl992,542,223 - 92,608,428 (+)EnsemblGRCm38mm10GRCm38
MGSCv37992,437,061 - 92,503,266 (+)NCBIGRCm37mm9NCBIm37
MGSCv36992,346,223 - 92,412,195 (+)NCBImm8
Celera992,126,694 - 92,192,758 (+)NCBICelera
Cytogenetic Map9E3.3NCBI
cM Map948.4NCBI
Plod2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0899,977,334 - 100,059,736 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl899,977,334 - 100,059,736 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0899,543,695 - 99,545,578 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0899,462,925 - 99,529,696 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4897,525,279 - 97,623,152 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1897,544,733 - 97,642,604 (+)NCBI
Celera892,602,361 - 92,678,608 (+)NCBICelera
Cytogenetic Map8q31NCBI
Plod2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547411,392,163 - 11,475,508 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547411,392,163 - 11,473,918 (+)NCBIChiLan1.0ChiLan1.0
PLOD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13150,675,423 - 150,764,939 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3150,675,424 - 150,764,939 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03143,091,833 - 143,181,831 (-)NCBIMhudiblu_PPA_v0panPan3
PLOD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2341,290,567 - 41,382,807 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12341,290,183 - 41,382,917 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Plod2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365199,053,192 - 9,139,221 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLOD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1386,401,244 - 86,513,105 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11386,402,673 - 86,513,167 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21394,175,156 - 94,243,446 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLOD2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl1544,490,042 - 44,591,526 (+)Ensembl
ChlSab1.11544,489,804 - 44,590,284 (+)NCBI
Plod2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473022,944,710 - 23,034,200 (-)NCBI

Position Markers
STS-N98463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373145,787,492 - 145,787,750UniSTSGRCh37
Build 363147,270,182 - 147,270,440RGDNCBI36
Celera3144,204,831 - 144,205,089RGD
Cytogenetic Map3q24UniSTS
GeneMap99-GB4 RH Map3525.62UniSTS
NCBI RH Map31228.6UniSTS
G16641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373145,795,874 - 145,796,023UniSTSGRCh37
Build 363147,278,564 - 147,278,713RGDNCBI36
Celera3144,213,223 - 144,213,372RGD
Cytogenetic Map3q24UniSTS
HuRef3143,172,824 - 143,172,973UniSTS
D3S3410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373145,860,927 - 145,861,142UniSTSGRCh37
Build 363147,343,617 - 147,343,832RGDNCBI36
Celera3144,278,278 - 144,278,493RGD
Cytogenetic Map3q24UniSTS
HuRef3143,237,715 - 143,237,930UniSTS
Whitehead-RH Map3661.7UniSTS
NCBI RH Map31233.6UniSTS
G29915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373145,788,358 - 145,788,465UniSTSGRCh37
Build 363147,271,048 - 147,271,155RGDNCBI36
Celera3144,205,697 - 144,205,804RGD
Cytogenetic Map3q24UniSTS
HuRef3143,165,297 - 143,165,404UniSTS
RH78870  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373145,788,446 - 145,788,584UniSTSGRCh37
Build 363147,271,136 - 147,271,274RGDNCBI36
Celera3144,205,785 - 144,205,923RGD
Cytogenetic Map3q24UniSTS
HuRef3143,165,385 - 143,165,523UniSTS
GeneMap99-GB4 RH Map3531.82UniSTS
NCBI RH Map31228.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1773
Count of miRNA genes:521
Interacting mature miRNAs:574
Transcripts:ENST00000282903, ENST00000360060, ENST00000460520, ENST00000461497, ENST00000469350, ENST00000475505, ENST00000478436, ENST00000480704, ENST00000494950, ENST00000495700
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.


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
Medium 2243 1672 1478 455 295 379 2231 991 1473 333 959 1539 89 1197 1249 4
Low 165 686 242 167 797 85 2120 1194 2227 84 481 65 83 7 1536
Below cutoff 19 615 1 721 1 4 7 19 2 11 5 1 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF085277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY026757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM724669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC788822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U84573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000282903   ⟹   ENSP00000282903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3146,069,440 - 146,161,184 (-)Ensembl
RefSeq Acc Id: ENST00000360060   ⟹   ENSP00000353170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3146,069,444 - 146,161,167 (-)Ensembl
RefSeq Acc Id: ENST00000460520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3146,081,791 - 146,088,815 (-)Ensembl
RefSeq Acc Id: ENST00000461497   ⟹   ENSP00000419354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3146,069,440 - 146,085,889 (-)Ensembl
RefSeq Acc Id: ENST00000469350   ⟹   ENSP00000419963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3146,102,760 - 146,163,653 (-)Ensembl
RefSeq Acc Id: ENST00000475505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3146,072,557 - 146,073,657 (-)Ensembl
RefSeq Acc Id: ENST00000478436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3146,075,925 - 146,086,735 (-)Ensembl
RefSeq Acc Id: ENST00000480704   ⟹   ENSP00000419880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3146,110,300 - 146,160,991 (-)Ensembl
RefSeq Acc Id: ENST00000494950   ⟹   ENSP00000420094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3146,070,181 - 146,160,992 (-)Ensembl
RefSeq Acc Id: ENST00000495700
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3146,070,241 - 146,071,170 (-)Ensembl
RefSeq Acc Id: NM_000935   ⟹   NP_000926
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,069,440 - 146,161,184 (-)NCBI
GRCh373145,787,225 - 145,879,282 (-)NCBI
Build 363147,269,917 - 147,361,972 (-)NCBI Archive
HuRef3143,164,166 - 143,256,088 (-)ENTREZGENE
CHM1_13145,750,160 - 145,842,267 (-)NCBI
Sequence:
RefSeq Acc Id: NM_182943   ⟹   NP_891988
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,069,440 - 146,161,184 (-)NCBI
GRCh373145,787,225 - 145,879,282 (-)NCBI
Build 363147,269,917 - 147,361,972 (-)NCBI Archive
HuRef3143,164,166 - 143,256,088 (-)ENTREZGENE
CHM1_13145,750,160 - 145,842,267 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247535   ⟹   XP_005247592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,069,437 - 146,160,991 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006625   ⟹   XP_016862114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,069,437 - 146,124,231 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453599   ⟹   XP_024309367
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,069,437 - 146,160,996 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001740176
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,069,437 - 146,161,184 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000926   ⟸   NM_000935
- Peptide Label: isoform 2 precursor
- UniProtKB: O00469 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_891988   ⟸   NM_182943
- Peptide Label: isoform 1 precursor
- UniProtKB: O00469 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005247592   ⟸   XM_005247535
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016862114   ⟸   XM_017006625
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024309367   ⟸   XM_024453599
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000353170   ⟸   ENST00000360060
RefSeq Acc Id: ENSP00000282903   ⟸   ENST00000282903
RefSeq Acc Id: ENSP00000419963   ⟸   ENST00000469350
RefSeq Acc Id: ENSP00000420094   ⟸   ENST00000494950
RefSeq Acc Id: ENSP00000419880   ⟸   ENST00000480704
RefSeq Acc Id: ENSP00000419354   ⟸   ENST00000461497
Protein Domains
Fe2OG dioxygenase

Promoters
RGD ID:6865910
Promoter ID:EPDNEW_H6119
Type:initiation region
Name:PLOD2_2
Description:procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6120  EPDNEW_H6121  EPDNEW_H6122  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,161,000 - 146,161,060EPDNEW
RGD ID:6865912
Promoter ID:EPDNEW_H6120
Type:initiation region
Name:PLOD2_1
Description:procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6119  EPDNEW_H6121  EPDNEW_H6122  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,161,184 - 146,161,244EPDNEW
RGD ID:6865914
Promoter ID:EPDNEW_H6121
Type:initiation region
Name:PLOD2_3
Description:procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6119  EPDNEW_H6120  EPDNEW_H6122  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383146,163,723 - 146,163,783EPDNEW
RGD ID:6801426
Promoter ID:HG_KWN:46404
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:NM_000935,   NM_182943
Position:
Human AssemblyChrPosition (strand)Source
Build 363147,361,421 - 147,361,921 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_182943.3(PLOD2):c.1559dup (p.Val523fs) duplication Bruck syndrome 2 [RCV000034323] Chr3:146077865..146077866 [GRCh38]
Chr3:145795652..145795653 [GRCh37]
Chr3:3q24
pathogenic
NM_182943.3(PLOD2):c.1886C>T (p.Thr629Ile) single nucleotide variant Bruck syndrome 2 [RCV000008080] Chr3:146071386 [GRCh38]
Chr3:145789173 [GRCh37]
Chr3:3q24
pathogenic
NM_182943.3(PLOD2):c.1865G>T (p.Gly622Val) single nucleotide variant Bruck syndrome 2 [RCV000008081] Chr3:146071407 [GRCh38]
Chr3:145789194 [GRCh37]
Chr3:3q24
pathogenic
NM_182943.3(PLOD2):c.1856G>A (p.Arg619His) single nucleotide variant Bruck syndrome 2 [RCV000008082] Chr3:146071416 [GRCh38]
Chr3:145789203 [GRCh37]
Chr3:3q24
pathogenic
NM_182943.3(PLOD2):c.801C>A (p.Asn267Lys) single nucleotide variant Bruck syndrome 2 [RCV000656731] Chr3:146091878 [GRCh38]
Chr3:145809665 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.351dup (p.Phe118fs) duplication Skeletal disorder [RCV001196592] Chr3:146110435..146110436 [GRCh38]
Chr3:145828222..145828223 [GRCh37]
Chr3:3q24
likely pathogenic
GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1 copy number loss See cases [RCV000051575] Chr3:141751960..148246189 [GRCh38]
Chr3:141470802..147963976 [GRCh37]
Chr3:142953492..149446666 [NCBI36]
Chr3:3q23-24
pathogenic
GRCh38/hg38 3q24(chr3:144319831-146552546)x1 copy number loss See cases [RCV000051576] Chr3:144319831..146552546 [GRCh38]
Chr3:144038673..146270333 [GRCh37]
Chr3:145521363..147753023 [NCBI36]
Chr3:3q24
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_000935.2(PLOD2):c.1129G>A (p.Asp377Asn) single nucleotide variant Malignant melanoma [RCV000065871] Chr3:146085272 [GRCh38]
Chr3:145803059 [GRCh37]
Chr3:147285749 [NCBI36]
Chr3:3q24
not provided
NM_000935.2(PLOD2):c.161G>A (p.Arg54Gln) single nucleotide variant Malignant melanoma [RCV000060730] Chr3:146124178 [GRCh38]
Chr3:145841965 [GRCh37]
Chr3:147324655 [NCBI36]
Chr3:3q24
not provided
NM_182943.3(PLOD2):c.-4G>A single nucleotide variant not specified [RCV000173585] Chr3:146160993 [GRCh38]
Chr3:145878780 [GRCh37]
Chr3:3q24
likely benign
NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His) single nucleotide variant not provided [RCV000174960] Chr3:146076820 [GRCh38]
Chr3:145794607 [GRCh37]
Chr3:3q24
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q23-24(chr3:142780798-146233927)x1 copy number loss See cases [RCV000135827] Chr3:142780798..146233927 [GRCh38]
Chr3:142499640..145951714 [GRCh37]
Chr3:143982330..147434404 [NCBI36]
Chr3:3q23-24
uncertain significance
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1
pathogenic|likely benign
GRCh38/hg38 3q24(chr3:145036887-146346332)x3 copy number gain See cases [RCV000137972] Chr3:145036887..146346332 [GRCh38]
Chr3:144755729..146064119 [GRCh37]
Chr3:146238419..147546809 [NCBI36]
Chr3:3q24
likely benign|uncertain significance
GRCh38/hg38 3q24(chr3:146051251-146159728)x1 copy number loss See cases [RCV000141017] Chr3:146051251..146159728 [GRCh38]
Chr3:145769038..145877515 [GRCh37]
Chr3:147251728..147360205 [NCBI36]
Chr3:3q24
likely benign
NM_182943.3(PLOD2):c.*683C>T single nucleotide variant Bruck syndrome 2 [RCV000261746] Chr3:146070034 [GRCh38]
Chr3:145787821 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.533G>A (p.Arg178His) single nucleotide variant Bruck syndrome 2 [RCV000279708]|not provided [RCV000733926] Chr3:146106614 [GRCh38]
Chr3:145824401 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_000935.2(PLOD2):c.-412C>T single nucleotide variant Bruck syndrome 2 [RCV000271150] Chr3:146161401 [GRCh38]
Chr3:145879188 [GRCh37]
Chr3:3q24
benign|likely benign
NM_182943.3(PLOD2):c.-170C>G single nucleotide variant Bruck syndrome 2 [RCV000269839] Chr3:146161159 [GRCh38]
Chr3:145878946 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.1500+12A>G single nucleotide variant Bruck syndrome 2 [RCV000603704]|not specified [RCV000242592] Chr3:146079104 [GRCh38]
Chr3:145796891 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.338+4G>A single nucleotide variant Bruck syndrome 2 [RCV000608593]|not specified [RCV000247802] Chr3:146121108 [GRCh38]
Chr3:145838895 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.*171T>G single nucleotide variant Bruck syndrome 2 [RCV000277749] Chr3:146070546 [GRCh38]
Chr3:145788333 [GRCh37]
Chr3:3q24
benign|likely benign
NM_182943.3(PLOD2):c.471G>A (p.Val157=) single nucleotide variant Bruck syndrome 2 [RCV000334791] Chr3:146110316 [GRCh38]
Chr3:145828103 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.382A>G (p.Lys128Glu) single nucleotide variant Bruck syndrome 2 [RCV000399155] Chr3:146110405 [GRCh38]
Chr3:145828192 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*764A>G single nucleotide variant Bruck syndrome 2 [RCV000356558] Chr3:146069953 [GRCh38]
Chr3:145787740 [GRCh37]
Chr3:3q24
benign|uncertain significance
NM_182943.3(PLOD2):c.616-13T>A single nucleotide variant Bruck syndrome 2 [RCV000378843] Chr3:146104355 [GRCh38]
Chr3:145822142 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.1457A>G (p.Lys486Arg) single nucleotide variant Bruck syndrome 2 [RCV000339603]|not provided [RCV001091198] Chr3:146079159 [GRCh38]
Chr3:145796946 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*1157T>C single nucleotide variant Bruck syndrome 2 [RCV000359936] Chr3:146069560 [GRCh38]
Chr3:145787347 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*37A>G single nucleotide variant Bruck syndrome 2 [RCV000382633] Chr3:146070680 [GRCh38]
Chr3:145788467 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.2121+14T>C single nucleotide variant Bruck syndrome 2 [RCV000288228] Chr3:146071028 [GRCh38]
Chr3:145788815 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.1658A>G (p.Gln553Arg) single nucleotide variant Bruck syndrome 2 [RCV000383704] Chr3:146076801 [GRCh38]
Chr3:145794588 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.-73C>T single nucleotide variant Bruck syndrome 2 [RCV000408138] Chr3:146161062 [GRCh38]
Chr3:145878849 [GRCh37]
Chr3:3q24
uncertain significance
NM_000935.2(PLOD2):c.-212C>T single nucleotide variant Bruck syndrome 2 [RCV000306339] Chr3:146161201 [GRCh38]
Chr3:145878988 [GRCh37]
Chr3:3q24
benign|likely benign
NM_000935.2(PLOD2):c.-322G>T single nucleotide variant Bruck syndrome 2 [RCV000365649] Chr3:146161311 [GRCh38]
Chr3:145879098 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.1732A>G (p.Ile578Val) single nucleotide variant Bruck syndrome 2 [RCV000329070] Chr3:146073298 [GRCh38]
Chr3:145791085 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.-95G>A single nucleotide variant Bruck syndrome 2 [RCV000369184] Chr3:146161084 [GRCh38]
Chr3:145878871 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*847C>T single nucleotide variant Bruck syndrome 2 [RCV000393117] Chr3:146069870 [GRCh38]
Chr3:145787657 [GRCh37]
Chr3:3q24
benign|likely benign
NM_182943.3(PLOD2):c.*809T>C single nucleotide variant Bruck syndrome 2 [RCV000296919] Chr3:146069908 [GRCh38]
Chr3:145787695 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu) single nucleotide variant Bruck syndrome 2 [RCV000349924] Chr3:146121144 [GRCh38]
Chr3:145838931 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.815C>T (p.Ser272Leu) single nucleotide variant not provided [RCV000380736] Chr3:146091864 [GRCh38]
Chr3:145809651 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.934C>A (p.Pro312Thr) single nucleotide variant not provided [RCV000358101] Chr3:146088657 [GRCh38]
Chr3:145806444 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) single nucleotide variant Bruck syndrome 2 [RCV001148012]|not provided [RCV000960137]|not specified [RCV000359631] Chr3:146104306 [GRCh38]
Chr3:145822093 [GRCh37]
Chr3:3q24
benign|likely benign|conflicting interpretations of pathogenicity
NM_182943.3(PLOD2):c.587C>T (p.Thr196Ile) single nucleotide variant Bruck syndrome 2 [RCV001148013]|not provided [RCV000585226] Chr3:146106560 [GRCh38]
Chr3:145824347 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.-81C>T single nucleotide variant Bruck syndrome 2 [RCV000314914] Chr3:146161070 [GRCh38]
Chr3:145878857 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*587G>A single nucleotide variant Bruck syndrome 2 [RCV000330993] Chr3:146070130 [GRCh38]
Chr3:145787917 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*148T>C single nucleotide variant Bruck syndrome 2 [RCV000332740] Chr3:146070569 [GRCh38]
Chr3:145788356 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*1211C>T single nucleotide variant Bruck syndrome 2 [RCV000305155] Chr3:146069506 [GRCh38]
Chr3:145787293 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*292C>T single nucleotide variant Bruck syndrome 2 [RCV000367010] Chr3:146070425 [GRCh38]
Chr3:145788212 [GRCh37]
Chr3:3q24
uncertain significance
NM_000935.2(PLOD2):c.-455C>T single nucleotide variant Bruck syndrome 2 [RCV000321588] Chr3:146161444 [GRCh38]
Chr3:145879231 [GRCh37]
Chr3:3q24
uncertain significance
NM_000935.2(PLOD2):c.-478G>C single nucleotide variant Bruck syndrome 2 [RCV000376296] Chr3:146161467 [GRCh38]
Chr3:145879254 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.1042G>T (p.Asp348Tyr) single nucleotide variant not provided [RCV000597106] Chr3:146086872 [GRCh38]
Chr3:145804659 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.1644C>T (p.Asn548=) single nucleotide variant not provided [RCV000908918]|not specified [RCV000591278] Chr3:146076815 [GRCh38]
Chr3:145794602 [GRCh37]
Chr3:3q24
benign|likely benign
NM_182943.3(PLOD2):c.6G>C (p.Gly2=) single nucleotide variant not provided [RCV000733765] Chr3:146160984 [GRCh38]
Chr3:145878771 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val) single nucleotide variant Cleft of soft palate [RCV000415031] Chr3:146079255 [GRCh38]
Chr3:145797042 [GRCh37]
Chr3:3q24
likely pathogenic
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter) single nucleotide variant Cleft of soft palate [RCV000415250]|not provided [RCV000627278] Chr3:146071125 [GRCh38]
Chr3:145788912 [GRCh37]
Chr3:3q24
pathogenic|likely pathogenic
NM_182943.3(PLOD2):c.1949T>C (p.Phe650Ser) single nucleotide variant not provided [RCV000427467] Chr3:146071323 [GRCh38]
Chr3:145789110 [GRCh37]
Chr3:3q24
likely pathogenic
NM_182943.3(PLOD2):c.1127+2T>C single nucleotide variant not provided [RCV000438142] Chr3:146086785 [GRCh38]
Chr3:145804572 [GRCh37]
Chr3:3q24
pathogenic
GRCh37/hg19 3q24(chr3:143756186-145809824)x3 copy number gain See cases [RCV000510389] Chr3:143756186..145809824 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_182943.3(PLOD2):c.1108G>A (p.Glu370Lys) single nucleotide variant not provided [RCV000946770]|not specified [RCV000616044] Chr3:146086806 [GRCh38]
Chr3:145804593 [GRCh37]
Chr3:3q24
benign|likely benign
NM_182943.3(PLOD2):c.2022A>T (p.Val674=) single nucleotide variant not specified [RCV000616394] Chr3:146071141 [GRCh38]
Chr3:145788928 [GRCh37]
Chr3:3q24
likely benign
GRCh37/hg19 3q24(chr3:143757050-145815734)x3 copy number gain not provided [RCV000682313] Chr3:143757050..145815734 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3q24(chr3:145738142-145863739)x1 copy number loss not provided [RCV000682314] Chr3:145738142..145863739 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q24(chr3:145767349-145989009)x3 copy number gain not provided [RCV000742858] Chr3:145767349..145989009 [GRCh37]
Chr3:3q24
benign
GRCh37/hg19 3q24(chr3:145767684-145960310)x3 copy number gain not provided [RCV000742859] Chr3:145767684..145960310 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.*1169T>C single nucleotide variant Bruck syndrome 2 [RCV001147016] Chr3:146069548 [GRCh38]
Chr3:145787335 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*1034A>C single nucleotide variant Bruck syndrome 2 [RCV001147018] Chr3:146069683 [GRCh38]
Chr3:145787470 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.2229T>C (p.Pro743=) single nucleotide variant Bruck syndrome 2 [RCV001145154]|not provided [RCV000966888] Chr3:146070765 [GRCh38]
Chr3:145788552 [GRCh37]
Chr3:3q24
benign
GRCh37/hg19 3q22.2-24(chr3:135288025-146874012) copy number gain not provided [RCV000767703] Chr3:135288025..146874012 [GRCh37]
Chr3:3q22.2-24
pathogenic
NM_182943.3(PLOD2):c.1417C>T (p.Arg473Ter) single nucleotide variant Bruck syndrome 2 [RCV000779390]|not provided [RCV001091199] Chr3:146079199 [GRCh38]
Chr3:145796986 [GRCh37]
Chr3:3q24
pathogenic|uncertain significance
NM_182943.3(PLOD2):c.804T>C (p.Tyr268=) single nucleotide variant not provided [RCV000903938] Chr3:146091875 [GRCh38]
Chr3:145809662 [GRCh37]
Chr3:3q24
likely benign
NM_182943.3(PLOD2):c.1647T>C (p.Asn549=) single nucleotide variant Bruck syndrome 2 [RCV001147122]|not provided [RCV000879960] Chr3:146076812 [GRCh38]
Chr3:145794599 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.1171G>C (p.Val391Leu) single nucleotide variant Bruck syndrome 2 [RCV001148009]|not provided [RCV000879961] Chr3:146085230 [GRCh38]
Chr3:145803017 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.861C>T (p.Val287=) single nucleotide variant not provided [RCV000893736] Chr3:146091818 [GRCh38]
Chr3:145809605 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.465T>G (p.Pro155=) single nucleotide variant not provided [RCV000906076] Chr3:146110322 [GRCh38]
Chr3:145828109 [GRCh37]
Chr3:3q24
likely benign
NC_000003.12:g.146076990_146076993del deletion not provided [RCV000834259] Chr3:3q24 benign
NM_182943.3(PLOD2):c.339-22dup duplication not provided [RCV000834251] Chr3:146110469..146110470 [GRCh38]
Chr3:145828256..145828257 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.503-73C>T single nucleotide variant not provided [RCV000834252] Chr3:146106717 [GRCh38]
Chr3:145824504 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.1128-82A>T single nucleotide variant not provided [RCV000834256] Chr3:146085355 [GRCh38]
Chr3:145803142 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.1128-78A>G single nucleotide variant not provided [RCV000834257] Chr3:146085351 [GRCh38]
Chr3:145803138 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.1563+90T>C single nucleotide variant not provided [RCV000834258] Chr3:146077772 [GRCh38]
Chr3:145795559 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.1744-67A>T single nucleotide variant not provided [RCV000834428] Chr3:146072732 [GRCh38]
Chr3:145790519 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.109+47G>C single nucleotide variant not provided [RCV000834690] Chr3:146160834 [GRCh38]
Chr3:145878621 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.615+294A>G single nucleotide variant not provided [RCV000830704] Chr3:146106238 [GRCh38]
Chr3:145824025 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.201+71A>G single nucleotide variant not provided [RCV000834250] Chr3:146124067 [GRCh38]
Chr3:145841854 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.2121+26A>G single nucleotide variant not provided [RCV000834260] Chr3:146071016 [GRCh38]
Chr3:145788803 [GRCh37]
Chr3:3q24
benign
NM_000935.2(PLOD2):c.-286G>T single nucleotide variant Bruck syndrome 2 [RCV001147217] Chr3:146161275 [GRCh38]
Chr3:145879062 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*673A>T single nucleotide variant Bruck syndrome 2 [RCV001147904] Chr3:146070044 [GRCh38]
Chr3:145787831 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*418A>T single nucleotide variant Bruck syndrome 2 [RCV001147906] Chr3:146070299 [GRCh38]
Chr3:145788086 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.1626C>T (p.Tyr542=) single nucleotide variant Bruck syndrome 2 [RCV001147123] Chr3:146076833 [GRCh38]
Chr3:145794620 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*759T>C single nucleotide variant Bruck syndrome 2 [RCV001147902] Chr3:146069958 [GRCh38]
Chr3:145787745 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.836G>A (p.Cys279Tyr) single nucleotide variant Bruck syndrome 2 [RCV001148010] Chr3:146091843 [GRCh38]
Chr3:145809630 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.503-47T>C single nucleotide variant not provided [RCV000834253] Chr3:146106691 [GRCh38]
Chr3:145824478 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.778-62A>G single nucleotide variant not provided [RCV000834254] Chr3:146091963 [GRCh38]
Chr3:145809750 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.1127+50G>T single nucleotide variant not provided [RCV000834255] Chr3:146086737 [GRCh38]
Chr3:145804524 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.339-289C>T single nucleotide variant not provided [RCV000844496] Chr3:146110737 [GRCh38]
Chr3:145828524 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.679+260T>C single nucleotide variant not provided [RCV000844499] Chr3:146104019 [GRCh38]
Chr3:145821806 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.778-323T>G single nucleotide variant not provided [RCV000844500] Chr3:146092224 [GRCh38]
Chr3:145810011 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.879+258A>G single nucleotide variant not provided [RCV000844512] Chr3:146091542 [GRCh38]
Chr3:145809329 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.1563+230C>G single nucleotide variant not provided [RCV000844515] Chr3:146077632 [GRCh38]
Chr3:145795419 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.1677+243_1677+244insTAAATTAGTTTAGC insertion not provided [RCV000844517] Chr3:146076538..146076539 [GRCh38]
Chr3:145794325..145794326 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.*501C>T single nucleotide variant Bruck syndrome 2 [RCV001147905] Chr3:146070216 [GRCh38]
Chr3:145788003 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*1049G>T single nucleotide variant Bruck syndrome 2 [RCV001147017] Chr3:146069668 [GRCh38]
Chr3:145787455 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*930A>C single nucleotide variant Bruck syndrome 2 [RCV001147019] Chr3:146069787 [GRCh38]
Chr3:145787574 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.1617T>C (p.Thr539=) single nucleotide variant not provided [RCV000891675] Chr3:146076842 [GRCh38]
Chr3:145794629 [GRCh37]
Chr3:3q24
likely benign
NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys) single nucleotide variant Bruck syndrome 2 [RCV001145155] Chr3:146071053 [GRCh38]
Chr3:145788840 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.1995G>A (p.Lys665=) single nucleotide variant Bruck syndrome 2 [RCV001145158] Chr3:146071277 [GRCh38]
Chr3:145789064 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.103C>T (p.Pro35Ser) single nucleotide variant Bruck syndrome 2 [RCV001145266] Chr3:146160887 [GRCh38]
Chr3:145878674 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.1280A>G (p.Asn427Ser) single nucleotide variant Bruck syndrome 2 [RCV000995609] Chr3:146081816 [GRCh38]
Chr3:145799603 [GRCh37]
Chr3:3q24
likely pathogenic
NM_182943.3(PLOD2):c.*63T>G single nucleotide variant Bruck syndrome 2 [RCV001149444] Chr3:146070654 [GRCh38]
Chr3:145788441 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.532C>T (p.Arg178Cys) single nucleotide variant Bruck syndrome 2 [RCV001149552] Chr3:146106615 [GRCh38]
Chr3:145824402 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.1500+1G>T single nucleotide variant not provided [RCV001091197] Chr3:146079115 [GRCh38]
Chr3:145796902 [GRCh37]
Chr3:3q24
pathogenic
NM_182943.3(PLOD2):c.805G>A (p.Val269Ile) single nucleotide variant Bruck syndrome 2 [RCV001148011]|not provided [RCV000889098] Chr3:146091874 [GRCh38]
Chr3:145809661 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.1893T>C (p.Asp631=) single nucleotide variant not provided [RCV000922462] Chr3:146071379 [GRCh38]
Chr3:145789166 [GRCh37]
Chr3:3q24
likely benign
NM_182943.3(PLOD2):c.786G>A (p.Leu262=) single nucleotide variant not provided [RCV000980020] Chr3:146091893 [GRCh38]
Chr3:145809680 [GRCh37]
Chr3:3q24
likely benign
NM_182943.3(PLOD2):c.844T>C (p.Cys282Arg) single nucleotide variant not provided [RCV000896632] Chr3:146091835 [GRCh38]
Chr3:145809622 [GRCh37]
Chr3:3q24
likely benign
NM_182943.3(PLOD2):c.1798T>C (p.Leu600=) single nucleotide variant not provided [RCV000909448] Chr3:146072611 [GRCh38]
Chr3:145790398 [GRCh37]
Chr3:3q24
likely benign
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His) single nucleotide variant Bruck syndrome 2 [RCV001147125]|not provided [RCV000930681] Chr3:146079165 [GRCh38]
Chr3:145796952 [GRCh37]
Chr3:3q24
likely benign|uncertain significance
NM_182943.3(PLOD2):c.2106G>C (p.Val702=) single nucleotide variant Bruck syndrome 2 [RCV001145156]|not provided [RCV000884708] Chr3:146071057 [GRCh38]
Chr3:145788844 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.1996-8T>A single nucleotide variant not provided [RCV000920614] Chr3:146071175 [GRCh38]
Chr3:145788962 [GRCh37]
Chr3:3q24
likely benign
NM_182943.3(PLOD2):c.-104G>T single nucleotide variant Bruck syndrome 2 [RCV001145268] Chr3:146161093 [GRCh38]
Chr3:145878880 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.*32T>C single nucleotide variant Bruck syndrome 2 [RCV001149445] Chr3:146070685 [GRCh38]
Chr3:145788472 [GRCh37]
Chr3:3q24
benign
NM_182943.3(PLOD2):c.1126A>C (p.Met376Leu) single nucleotide variant not provided [RCV000913394] Chr3:146086788 [GRCh38]
Chr3:145804575 [GRCh37]
Chr3:3q24
likely benign
NM_182943.3(PLOD2):c.10T>A (p.Cys4Ser) single nucleotide variant Bruck syndrome 2 [RCV001145267]|not provided [RCV000890687] Chr3:146160980 [GRCh38]
Chr3:145878767 [GRCh37]
Chr3:3q24
benign
GRCh37/hg19 3q24(chr3:142909055-147190850)x1 copy number loss not provided [RCV001005475] Chr3:142909055..147190850 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
NM_182943.3(PLOD2):c.1942C>T (p.Arg648Trp) single nucleotide variant Bruck syndrome 2 [RCV001145159] Chr3:146071330 [GRCh38]
Chr3:145789117 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*25A>C single nucleotide variant Bruck syndrome 2 [RCV001149446] Chr3:146070692 [GRCh38]
Chr3:145788479 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.335A>G (p.Glu112Gly) single nucleotide variant Bruck syndrome 2 [RCV001149553] Chr3:146121115 [GRCh38]
Chr3:145838902 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.121G>A (p.Val41Ile) single nucleotide variant Bruck syndrome 2 [RCV001149554] Chr3:146124218 [GRCh38]
Chr3:145842005 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.2103C>T (p.Asn701=) single nucleotide variant Bruck syndrome 2 [RCV001145157] Chr3:146071060 [GRCh38]
Chr3:145788847 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.1744-11A>G single nucleotide variant Bruck syndrome 2 [RCV001145160] Chr3:146072676 [GRCh38]
Chr3:145790463 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.-188C>G single nucleotide variant Bruck syndrome 2 [RCV001145269] Chr3:146161177 [GRCh38]
Chr3:145878964 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.*848G>A single nucleotide variant Bruck syndrome 2 [RCV001147020] Chr3:146069869 [GRCh38]
Chr3:145787656 [GRCh37]
Chr3:3q24
likely benign
NM_182943.3(PLOD2):c.1565G>C (p.Gly522Ala) single nucleotide variant Bruck syndrome 2 [RCV001147124] Chr3:146076894 [GRCh38]
Chr3:145794681 [GRCh37]
Chr3:3q24
uncertain significance
NM_000935.2(PLOD2):c.-417A>G single nucleotide variant Bruck syndrome 2 [RCV001147218] Chr3:146161406 [GRCh38]
Chr3:145879193 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.1244C>T (p.Ala415Val) single nucleotide variant Bruck syndrome 2 [RCV001148008] Chr3:146081852 [GRCh38]
Chr3:145799639 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1 copy number loss not provided [RCV001005476] Chr3:144053029..150272658 [GRCh37]
Chr3:3q24-25.1
likely pathogenic
NM_182943.3(PLOD2):c.*742A>G single nucleotide variant Bruck syndrome 2 [RCV001147903] Chr3:146069975 [GRCh38]
Chr3:145787762 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.778-6T>G single nucleotide variant Bruck syndrome 2 [RCV001261006] Chr3:146091907 [GRCh38]
Chr3:145809694 [GRCh37]
Chr3:3q24
uncertain significance
NM_182943.3(PLOD2):c.2270A>T (p.Asp757Val) single nucleotide variant Bruck syndrome 2 [RCV001261007] Chr3:146070724 [GRCh38]
Chr3:145788511 [GRCh37]
Chr3:3q24
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9082 AgrOrtholog
COSMIC PLOD2 COSMIC
Ensembl Genes ENSG00000152952 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000282903 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000353170 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000419354 UniProtKB/Swiss-Prot
  ENSP00000419880 UniProtKB/TrEMBL
  ENSP00000419963 UniProtKB/TrEMBL
  ENSP00000420094 UniProtKB/TrEMBL
Ensembl Transcript ENST00000282903 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000360060 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000461497 UniProtKB/Swiss-Prot
  ENST00000469350 UniProtKB/TrEMBL
  ENST00000480704 UniProtKB/TrEMBL
  ENST00000494950 UniProtKB/TrEMBL
GTEx ENSG00000152952 GTEx
HGNC ID HGNC:9082 ENTREZGENE
Human Proteome Map PLOD2 Human Proteome Map
InterPro Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Oxoglu/Fe-dep_dioxygenase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pro_4_hyd_alph UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Procol_lys_dOase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5352 UniProtKB/Swiss-Prot
NCBI Gene 5352 ENTREZGENE
OMIM 601865 OMIM
  609220 OMIM
Pfam 2OG-FeII_Oxy UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33412 PharmGKB
PROSITE FE2OG_OXY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LYS_HYDROXYLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART P4Hc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.477866 ENTREZGENE
UniProt C9JXZ0_HUMAN UniProtKB/TrEMBL
  E7ETU9_HUMAN UniProtKB/TrEMBL
  F8WEW3_HUMAN UniProtKB/TrEMBL
  O00469 ENTREZGENE, UniProtKB/Swiss-Prot
  Q96AR9_HUMAN UniProtKB/TrEMBL
  Q96QU5_HUMAN UniProtKB/TrEMBL
UniProt Secondary B3KWS3 UniProtKB/Swiss-Prot
  Q59ED2 UniProtKB/Swiss-Prot
  Q8N170 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 PLOD2  procollagen-lysine,2-oxoglutarate 5-dioxygenase 2    procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2  Symbol and/or name change 5135510 APPROVED
2011-08-17 PLOD2  procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2  PLOD2  procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2  Symbol and/or name change 5135510 APPROVED