LOXL2 (lysyl oxidase like 2) - Rat Genome Database

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Gene: LOXL2 (lysyl oxidase like 2) Homo sapiens
Analyze
Symbol: LOXL2
Name: lysyl oxidase like 2
RGD ID: 1318201
HGNC Page HGNC:6666
Description: Enables metal ion binding activity; oligosaccharide binding activity; and protein-lysine 6-oxidase activity. Involved in several processes, including collagen fibril organization; heterochromatin organization; and peptidyl-lysine oxidation. Located in several cellular components, including chromatin; endoplasmic reticulum; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: LOR; LOR2; lysyl oxidase homolog 2; lysyl oxidase related 2; lysyl oxidase-like 2 delta e13; lysyl oxidase-like protein 2; lysyl oxidase-related protein 2; lysyl oxidase-related protein WS9-14; WS9-14
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
GRCh38823,296,897 - 23,404,120 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl823,296,897 - 23,425,328 (-)EnsemblGRCh38hg38GRCh38
GRCh37823,154,410 - 23,261,633 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36823,210,355 - 23,317,667 (-)NCBINCBI36Build 36hg18NCBI36
Build 34823,210,640 - 23,317,575NCBI
Celera822,116,981 - 22,224,289 (-)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef821,700,441 - 21,807,111 (-)NCBIHuRef
CHM1_1823,356,541 - 23,463,832 (-)NCBICHM1_1
T2T-CHM13v2.0823,571,770 - 23,679,001 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
beta-lapachone  (EXP)
bexarotene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcipotriol  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
cobalt atom  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (ISO)
D-penicillamine  (EXP)
DDE  (EXP)
dexamethasone  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
disodium selenite  (EXP)
diuron  (ISO)
dopamine  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (EXP,ISO)
fenoldopam  (ISO)
fentanyl  (ISO)
fenvalerate  (ISO)
fipronil  (ISO)
folic acid  (ISO)
glyphosate  (ISO)
graphene oxide  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodimethylamine  (ISO)
nickel dichloride  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
pentane-2,3-dione  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP)
PhIP  (ISO)
progesterone  (EXP)
rotenone  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (EXP,ISO)
topotecan  (EXP)
tributylstannane  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
Tungsten carbide  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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:8125298   PMID:9079631   PMID:9722957   PMID:10212285   PMID:11162352   PMID:11642359   PMID:12477932   PMID:12670920   PMID:12686136   PMID:12820424   PMID:14702039   PMID:15489334  
PMID:16023247   PMID:16096638   PMID:17170699   PMID:17287949   PMID:18559498   PMID:18590575   PMID:19015874   PMID:19383344   PMID:19394199   PMID:19625348   PMID:19724858   PMID:20012301  
PMID:20026874   PMID:20043065   PMID:20306300   PMID:20439985   PMID:20732625   PMID:20802105   PMID:21233336   PMID:21519871   PMID:21732535   PMID:21740577   PMID:21835952   PMID:21873635  
PMID:22204712   PMID:22739041   PMID:23030485   PMID:23319596   PMID:23357697   PMID:23494965   PMID:23640157   PMID:23677379   PMID:23686814   PMID:23933800   PMID:23971878   PMID:23979707  
PMID:24008674   PMID:24014025   PMID:24177001   PMID:24239292   PMID:24414204   PMID:24716982   PMID:24863880   PMID:25048396   PMID:25092917   PMID:25128648   PMID:25146937   PMID:25254241  
PMID:25275797   PMID:25759215   PMID:25959397   PMID:26096783   PMID:26186194   PMID:26206869   PMID:26329904   PMID:26490187   PMID:26612622   PMID:26676674   PMID:26980013   PMID:26983694  
PMID:27063404   PMID:27278788   PMID:27285767   PMID:27339457   PMID:27363654   PMID:27430160   PMID:27488440   PMID:27655685   PMID:27694892   PMID:27735137   PMID:27770022   PMID:27784228  
PMID:28005267   PMID:28246206   PMID:28327460   PMID:28332555   PMID:28449718   PMID:28468951   PMID:28480218   PMID:28514442   PMID:28556501   PMID:28611215   PMID:28677767   PMID:28764769  
PMID:28864775   PMID:28965583   PMID:29052023   PMID:29089463   PMID:29107163   PMID:29117863   PMID:29125826   PMID:29513927   PMID:29581294   PMID:29620290   PMID:29787337   PMID:29845296  
PMID:29845638   PMID:29953488   PMID:29959362   PMID:30052320   PMID:30177819   PMID:30387148   PMID:30499665   PMID:30506621   PMID:30676771   PMID:30804321   PMID:30809541   PMID:30816490  
PMID:30925417   PMID:30976063   PMID:31002285   PMID:31032923   PMID:31061140   PMID:31162697   PMID:31219623   PMID:31273033   PMID:31322171   PMID:31409639   PMID:31462706   PMID:31586073  
PMID:31662451   PMID:31721164   PMID:31759052   PMID:31870772   PMID:31911079   PMID:32409323   PMID:32580015   PMID:32621591   PMID:32686768   PMID:32801097   PMID:32964626   PMID:32976981  
PMID:33214607   PMID:33545068   PMID:33618200   PMID:33627052   PMID:33657581   PMID:33961781   PMID:34011405   PMID:34206143   PMID:34308761   PMID:34393991   PMID:34591612   PMID:34646366  
PMID:34841699   PMID:34944490   PMID:35013218   PMID:35218109   PMID:35246120   PMID:35271888   PMID:35428659   PMID:35483499   PMID:35696571   PMID:35894804   PMID:35899856   PMID:36254230  
PMID:36512309   PMID:36573458   PMID:36894050   PMID:37071682   PMID:37345575   PMID:37433992   PMID:37458436   PMID:37496288   PMID:37511503   PMID:37737908   PMID:37974198   PMID:38451841  
PMID:38520980   PMID:39011679   PMID:39238192  


Genomics

Comparative Map Data
LOXL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38823,296,897 - 23,404,120 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl823,296,897 - 23,425,328 (-)EnsemblGRCh38hg38GRCh38
GRCh37823,154,410 - 23,261,633 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36823,210,355 - 23,317,667 (-)NCBINCBI36Build 36hg18NCBI36
Build 34823,210,640 - 23,317,575NCBI
Celera822,116,981 - 22,224,289 (-)NCBICelera
Cytogenetic Map8p21.3NCBI
HuRef821,700,441 - 21,807,111 (-)NCBIHuRef
CHM1_1823,356,541 - 23,463,832 (-)NCBICHM1_1
T2T-CHM13v2.0823,571,770 - 23,679,001 (-)NCBIT2T-CHM13v2.0
Loxl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391469,846,085 - 69,933,283 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1469,846,517 - 69,933,283 (+)EnsemblGRCm39 Ensembl
GRCm381469,608,692 - 69,695,834 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1469,609,068 - 69,695,834 (+)EnsemblGRCm38mm10GRCm38
MGSCv371470,009,283 - 70,095,641 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361468,344,556 - 68,428,775 (+)NCBIMGSCv36mm8
Celera1467,164,771 - 67,231,456 (+)NCBICelera
Cytogenetic Map14D2NCBI
cM Map1436.06NCBI
Loxl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81551,091,547 - 51,182,843 (+)NCBIGRCr8
mRatBN7.21544,683,449 - 44,773,067 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1544,683,880 - 44,773,067 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1548,801,847 - 48,888,730 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01549,913,342 - 50,000,223 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01546,772,671 - 46,859,556 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01551,276,022 - 51,365,238 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1551,303,909 - 51,365,234 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01555,005,461 - 55,092,980 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41549,982,103 - 50,068,902 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11550,024,097 - 50,084,571 (+)NCBI
Celera1544,366,507 - 44,453,187 (+)NCBICelera
Cytogenetic Map15p11NCBI
Loxl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540346,504,440 - 46,584,016 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540346,503,226 - 46,583,807 (-)NCBIChiLan1.0ChiLan1.0
LOXL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2741,802,508 - 41,909,114 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1817,529,707 - 17,636,058 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0822,547,303 - 22,653,676 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1819,483,331 - 19,589,522 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl819,483,335 - 19,589,522 (-)Ensemblpanpan1.1panPan2
LOXL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12534,095,858 - 34,186,775 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2534,126,335 - 34,185,969 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2534,684,511 - 34,775,173 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02534,303,470 - 34,394,384 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2534,303,481 - 34,394,388 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12534,249,922 - 34,341,273 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02534,104,318 - 34,195,732 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02534,259,681 - 34,351,266 (+)NCBIUU_Cfam_GSD_1.0
Loxl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494311,704,822 - 11,789,837 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365556,781,321 - 6,865,768 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365556,781,563 - 6,865,662 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOXL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl147,435,867 - 7,540,704 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1147,435,861 - 7,540,699 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOXL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1821,416,821 - 21,516,923 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl821,416,787 - 21,516,854 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605220,707,763 - 20,805,731 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Loxl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475818,568,607 - 18,621,785 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475818,567,367 - 18,644,528 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LOXL2
89 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
NM_002318.2(LOXL2):c.6G>A (p.Glu2=) single nucleotide variant Malignant melanoma [RCV000068245] Chr8:23368346 [GRCh38]
Chr8:23225859 [GRCh37]
Chr8:23281804 [NCBI36]
Chr8:8p21.3
not provided
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3 copy number gain See cases [RCV000137878] Chr8:22946697..25125997 [GRCh38]
Chr8:22804210..24983512 [GRCh37]
Chr8:22860155..25039429 [NCBI36]
Chr8:8p21.3-21.2
uncertain significance
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p21.3(chr8:22381361-23226751)x3 copy number gain See cases [RCV000510870] Chr8:22381361..23226751 [GRCh37]
Chr8:8p21.3
likely benign
NM_002318.3(LOXL2):c.1997-11C>A single nucleotide variant not specified [RCV000601898] Chr8:23302174 [GRCh38]
Chr8:23159687 [GRCh37]
Chr8:8p21.3
likely benign
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_002318.3(LOXL2):c.307G>A (p.Val103Met) single nucleotide variant not specified [RCV004331772] Chr8:23368045 [GRCh38]
Chr8:23225558 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1315G>A (p.Gly439Ser) single nucleotide variant not specified [RCV004282590] Chr8:23320040 [GRCh38]
Chr8:23177553 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1673A>C (p.Gln558Pro) single nucleotide variant not specified [RCV004295554] Chr8:23309875 [GRCh38]
Chr8:23167388 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.770G>A (p.Arg257His) single nucleotide variant not specified [RCV004326067] Chr8:23333597 [GRCh38]
Chr8:23191110 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1172A>G (p.Asn391Ser) single nucleotide variant not specified [RCV004305821] Chr8:23322260 [GRCh38]
Chr8:23179773 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:23099163-23515760)x1 copy number loss not provided [RCV000682978] Chr8:23099163..23515760 [GRCh37]
Chr8:8p21.3-21.2
uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_002318.3(LOXL2):c.1805A>G (p.Gln602Arg) single nucleotide variant not specified [RCV004307459] Chr8:23309743 [GRCh38]
Chr8:23167256 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3(chr8:23142067-23195975)x1 copy number loss not provided [RCV000849047] Chr8:23142067..23195975 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1 copy number loss not provided [RCV000849161] Chr8:21662847..24199218 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_002318.3(LOXL2):c.381C>T (p.His127=) single nucleotide variant not provided [RCV000975182] Chr8:23360240 [GRCh38]
Chr8:23217753 [GRCh37]
Chr8:8p21.3
benign
NM_002318.3(LOXL2):c.157G>T (p.Val53Leu) single nucleotide variant not provided [RCV000888341] Chr8:23368195 [GRCh38]
Chr8:23225708 [GRCh37]
Chr8:8p21.3
benign
NM_002318.3(LOXL2):c.411A>C (p.Ala137=) single nucleotide variant not provided [RCV000889196] Chr8:23360210 [GRCh38]
Chr8:23217723 [GRCh37]
Chr8:8p21.3
benign
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_002318.3(LOXL2):c.799G>A (p.Gly267Ser) single nucleotide variant not specified [RCV004936404] Chr8:23333568 [GRCh38]
Chr8:23191081 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1375G>T (p.Val459Leu) single nucleotide variant not specified [RCV004936406] Chr8:23319980 [GRCh38]
Chr8:23177493 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.595A>G (p.Thr199Ala) single nucleotide variant not specified [RCV004936410] Chr8:23341140 [GRCh38]
Chr8:23198653 [GRCh37]
Chr8:8p21.3
uncertain significance
NC_000008.10:g.(?_21900440)_(23564111_?)dup duplication Conotruncal heart malformations [RCV003107885]|not provided [RCV001928022] Chr8:21900440..23564111 [GRCh37]
Chr8:8p21.3-21.2
uncertain significance|no classifications from unflagged records
NM_002318.3(LOXL2):c.865G>A (p.Val289Ile) single nucleotide variant not specified [RCV004936408] Chr8:23333502 [GRCh38]
Chr8:23191015 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 copy number gain not provided [RCV002279745] Chr8:19779604..26531980 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12
pathogenic
NM_002318.3(LOXL2):c.62C>G (p.Pro21Arg) single nucleotide variant not specified [RCV004294282] Chr8:23368290 [GRCh38]
Chr8:23225803 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1156G>A (p.Gly386Arg) single nucleotide variant not specified [RCV004296707] Chr8:23322276 [GRCh38]
Chr8:23179789 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1573G>A (p.Gly525Arg) single nucleotide variant not specified [RCV004195795] Chr8:23317012 [GRCh38]
Chr8:23174525 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1013G>A (p.Arg338His) single nucleotide variant not specified [RCV004081407] Chr8:23328519 [GRCh38]
Chr8:23186032 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.586C>T (p.Arg196Cys) single nucleotide variant not specified [RCV004239395] Chr8:23341149 [GRCh38]
Chr8:23198662 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1421T>C (p.Met474Thr) single nucleotide variant not specified [RCV004233885] Chr8:23319934 [GRCh38]
Chr8:23177447 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.731C>G (p.Thr244Ser) single nucleotide variant not specified [RCV004095087] Chr8:23341004 [GRCh38]
Chr8:23198517 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.715G>C (p.Glu239Gln) single nucleotide variant not specified [RCV004231194] Chr8:23341020 [GRCh38]
Chr8:23198533 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1003G>A (p.Gly335Arg) single nucleotide variant not specified [RCV004139083] Chr8:23328529 [GRCh38]
Chr8:23186042 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2093T>C (p.Val698Ala) single nucleotide variant not specified [RCV004233631] Chr8:23302067 [GRCh38]
Chr8:23159580 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1565G>A (p.Arg522His) single nucleotide variant not specified [RCV004185956] Chr8:23317020 [GRCh38]
Chr8:23174533 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1414G>C (p.Glu472Gln) single nucleotide variant not specified [RCV004174480] Chr8:23319941 [GRCh38]
Chr8:23177454 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.598C>A (p.Pro200Thr) single nucleotide variant not specified [RCV004151210] Chr8:23341137 [GRCh38]
Chr8:23198650 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1453G>T (p.Ala485Ser) single nucleotide variant not specified [RCV004178283] Chr8:23319902 [GRCh38]
Chr8:23177415 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.155A>C (p.Asn52Thr) single nucleotide variant not specified [RCV004235070] Chr8:23368197 [GRCh38]
Chr8:23225710 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1624G>A (p.Ala542Thr) single nucleotide variant not specified [RCV004122345] Chr8:23316961 [GRCh38]
Chr8:23174474 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.460G>A (p.Val154Ile) single nucleotide variant not specified [RCV004213704] Chr8:23360161 [GRCh38]
Chr8:23217674 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.887C>T (p.Pro296Leu) single nucleotide variant not specified [RCV004212406] Chr8:23333480 [GRCh38]
Chr8:23190993 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.512C>T (p.Ser171Leu) single nucleotide variant not specified [RCV004247141] Chr8:23360109 [GRCh38]
Chr8:23217622 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.683G>A (p.Arg228His) single nucleotide variant not specified [RCV004091678] Chr8:23341052 [GRCh38]
Chr8:23198565 [GRCh37]
Chr8:8p21.3
likely benign
NM_002318.3(LOXL2):c.820A>C (p.Ser274Arg) single nucleotide variant not specified [RCV004076164] Chr8:23333547 [GRCh38]
Chr8:23191060 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1249G>A (p.Glu417Lys) single nucleotide variant not specified [RCV004215569] Chr8:23322183 [GRCh38]
Chr8:23179696 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1855G>A (p.Ala619Thr) single nucleotide variant not specified [RCV004191399] Chr8:23309693 [GRCh38]
Chr8:23167206 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1112G>A (p.Ser371Asn) single nucleotide variant not specified [RCV004105898] Chr8:23328420 [GRCh38]
Chr8:23185933 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2159T>C (p.Val720Ala) single nucleotide variant not specified [RCV004224004] Chr8:23298922 [GRCh38]
Chr8:23156435 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1838C>T (p.Pro613Leu) single nucleotide variant not specified [RCV004119917] Chr8:23309710 [GRCh38]
Chr8:23167223 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1753G>A (p.Ala585Thr) single nucleotide variant not specified [RCV004190206] Chr8:23309795 [GRCh38]
Chr8:23167308 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2203C>T (p.Arg735Cys) single nucleotide variant not specified [RCV004211358] Chr8:23298878 [GRCh38]
Chr8:23156391 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.938C>T (p.Ser313Leu) single nucleotide variant not specified [RCV004075495] Chr8:23333429 [GRCh38]
Chr8:23190942 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1517T>C (p.Met506Thr) single nucleotide variant not specified [RCV004087649] Chr8:23317068 [GRCh38]
Chr8:23174581 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2301A>C (p.Leu767Phe) single nucleotide variant not specified [RCV004088746] Chr8:23298067 [GRCh38]
Chr8:23155580 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.202A>C (p.Ser68Arg) single nucleotide variant not specified [RCV004088824] Chr8:23368150 [GRCh38]
Chr8:23225663 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1754C>T (p.Ala585Val) single nucleotide variant not specified [RCV004936407] Chr8:23309794 [GRCh38]
Chr8:23167307 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1660G>C (p.Ala554Pro) single nucleotide variant not specified [RCV004936412] Chr8:23309888 [GRCh38]
Chr8:23167401 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1766C>T (p.Pro589Leu) single nucleotide variant not specified [RCV004936413] Chr8:23309782 [GRCh38]
Chr8:23167295 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1489G>A (p.Gly497Arg) single nucleotide variant not specified [RCV004936403] Chr8:23317096 [GRCh38]
Chr8:23174609 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1856C>A (p.Ala619Glu) single nucleotide variant not specified [RCV004936405] Chr8:23309692 [GRCh38]
Chr8:23167205 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.841G>A (p.Val281Met) single nucleotide variant not specified [RCV004936409] Chr8:23333526 [GRCh38]
Chr8:23191039 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.98A>T (p.Tyr33Phe) single nucleotide variant not specified [RCV004936415] Chr8:23368254 [GRCh38]
Chr8:23225767 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1 copy number loss not provided [RCV003223292] Chr8:21925038..26372195 [GRCh37]
Chr8:8p21.3-21.2
likely pathogenic
NM_002318.3(LOXL2):c.1835G>A (p.Arg612Gln) single nucleotide variant not specified [RCV004250850] Chr8:23309713 [GRCh38]
Chr8:23167226 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1155C>G (p.Ile385Met) single nucleotide variant not specified [RCV004261009] Chr8:23322277 [GRCh38]
Chr8:23179790 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1564C>T (p.Arg522Cys) single nucleotide variant not specified [RCV004253952] Chr8:23317021 [GRCh38]
Chr8:23174534 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.976G>C (p.Val326Leu) single nucleotide variant not specified [RCV004255844] Chr8:23328556 [GRCh38]
Chr8:23186069 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1393G>C (p.Gly465Arg) single nucleotide variant not specified [RCV004277888] Chr8:23319962 [GRCh38]
Chr8:23177475 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.592C>T (p.Arg198Cys) single nucleotide variant not specified [RCV004323252] Chr8:23341143 [GRCh38]
Chr8:23198656 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2
pathogenic
NM_002318.3(LOXL2):c.1757A>T (p.Gln586Leu) single nucleotide variant not specified [RCV004361610] Chr8:23309791 [GRCh38]
Chr8:23167304 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1475C>G (p.Thr492Ser) single nucleotide variant not specified [RCV004361941] Chr8:23317110 [GRCh38]
Chr8:23174623 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2077A>G (p.Ile693Val) single nucleotide variant not specified [RCV004342084] Chr8:23302083 [GRCh38]
Chr8:23159596 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1248C>G (p.His416Gln) single nucleotide variant not specified [RCV004346895] Chr8:23322184 [GRCh38]
Chr8:23179697 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:23149628-23304899)x1 copy number loss not provided [RCV003483022] Chr8:23149628..23304899 [GRCh37]
Chr8:8p21.3-21.2
uncertain significance
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1
pathogenic
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21
pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23
pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1
pathogenic
NM_002318.3(LOXL2):c.1087G>A (p.Val363Ile) single nucleotide variant not specified [RCV004410446] Chr8:23328445 [GRCh38]
Chr8:23185958 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1139G>A (p.Arg380Gln) single nucleotide variant not specified [RCV004410447] Chr8:23328393 [GRCh38]
Chr8:23185906 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.166A>T (p.Ile56Phe) single nucleotide variant not specified [RCV004410449] Chr8:23368186 [GRCh38]
Chr8:23225699 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1781G>A (p.Arg594His) single nucleotide variant not specified [RCV004410450] Chr8:23309767 [GRCh38]
Chr8:23167280 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2186T>A (p.Ile729Asn) single nucleotide variant not specified [RCV004410451] Chr8:23298895 [GRCh38]
Chr8:23156408 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2229G>A (p.Met743Ile) single nucleotide variant not specified [RCV004410452] Chr8:23298852 [GRCh38]
Chr8:23156365 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2235C>G (p.Asn745Lys) single nucleotide variant not specified [RCV004410453] Chr8:23298846 [GRCh38]
Chr8:23156359 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.478G>A (p.Asp160Asn) single nucleotide variant not specified [RCV004410454] Chr8:23360143 [GRCh38]
Chr8:23217656 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.627G>C (p.Lys209Asn) single nucleotide variant not specified [RCV004410455] Chr8:23341108 [GRCh38]
Chr8:23198621 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.64C>G (p.Leu22Val) single nucleotide variant not specified [RCV004410456] Chr8:23368288 [GRCh38]
Chr8:23225801 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.668C>T (p.Thr223Met) single nucleotide variant not specified [RCV004410457] Chr8:23341067 [GRCh38]
Chr8:23198580 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.699G>A (p.Met233Ile) single nucleotide variant not specified [RCV004410458] Chr8:23341036 [GRCh38]
Chr8:23198549 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.934C>A (p.Pro312Thr) single nucleotide variant not specified [RCV004410459] Chr8:23333433 [GRCh38]
Chr8:23190946 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2267C>T (p.Thr756Met) single nucleotide variant not specified [RCV004634070] Chr8:23298101 [GRCh38]
Chr8:23155614 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1543G>A (p.Glu515Lys) single nucleotide variant not specified [RCV004634071] Chr8:23317042 [GRCh38]
Chr8:23174555 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1046C>T (p.Thr349Ile) single nucleotide variant not specified [RCV004637361] Chr8:23328486 [GRCh38]
Chr8:23185999 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2243T>C (p.Ile748Thr) single nucleotide variant not specified [RCV004637367] Chr8:23298838 [GRCh38]
Chr8:23156351 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1571A>T (p.Asp524Val) single nucleotide variant not specified [RCV004637364] Chr8:23317014 [GRCh38]
Chr8:23174527 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2110C>A (p.Pro704Thr) single nucleotide variant not specified [RCV004637368] Chr8:23302050 [GRCh38]
Chr8:23159563 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2257A>G (p.Ser753Gly) single nucleotide variant not specified [RCV004637365] Chr8:23298111 [GRCh38]
Chr8:23155624 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.758G>A (p.Arg253Gln) single nucleotide variant not specified [RCV004634072] Chr8:23333609 [GRCh38]
Chr8:23191122 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2204G>A (p.Arg735His) single nucleotide variant not specified [RCV004637363] Chr8:23298877 [GRCh38]
Chr8:23156390 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.815T>C (p.Ile272Thr) single nucleotide variant not specified [RCV004637370] Chr8:23333552 [GRCh38]
Chr8:23191065 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2218C>T (p.Arg740Cys) single nucleotide variant not specified [RCV004637362] Chr8:23298863 [GRCh38]
Chr8:23156376 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1834C>T (p.Arg612Trp) single nucleotide variant not specified [RCV004637366] Chr8:23309714 [GRCh38]
Chr8:23167227 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.422A>G (p.Asn141Ser) single nucleotide variant not specified [RCV004936411] Chr8:23360199 [GRCh38]
Chr8:23217712 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.916G>A (p.Val306Ile) single nucleotide variant not specified [RCV004936414] Chr8:23333451 [GRCh38]
Chr8:23190964 [GRCh37]
Chr8:8p21.3
uncertain significance
GRCh37/hg19 8p23.3-21.2(chr8:158049-24812752)x1 copy number loss not provided [RCV004819357] Chr8:158049..24812752 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
NM_002318.3(LOXL2):c.2032G>A (p.Asp678Asn) single nucleotide variant not specified [RCV004935081] Chr8:23302128 [GRCh38]
Chr8:23159641 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.560G>A (p.Arg187Gln) single nucleotide variant not specified [RCV004935079] Chr8:23341175 [GRCh38]
Chr8:23198688 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1535C>T (p.Ser512Leu) single nucleotide variant not specified [RCV004935080] Chr8:23317050 [GRCh38]
Chr8:23174563 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.1518G>A (p.Met506Ile) single nucleotide variant not specified [RCV004935082] Chr8:23317067 [GRCh38]
Chr8:23174580 [GRCh37]
Chr8:8p21.3
uncertain significance
NM_002318.3(LOXL2):c.2221A>T (p.Ile741Phe) single nucleotide variant not specified [RCV004935083] Chr8:23298860 [GRCh38]
Chr8:23156373 [GRCh37]
Chr8:8p21.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3743
Count of miRNA genes:1093
Interacting mature miRNAs:1388
Transcripts:ENST00000389131, ENST00000518083, ENST00000518472, ENST00000518878, ENST00000519243, ENST00000519809, ENST00000520349, ENST00000520617, ENST00000520871, ENST00000520925, ENST00000522446, ENST00000523833, ENST00000524075, ENST00000524144, ENST00000524168
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597032341GWAS1128415_Hbody height QTL GWAS1128415 (human)1e-24body height (VT:0001253)body height (CMO:0000106)82331397923313980Human
597355867GWAS1451941_Hbody height QTL GWAS1451941 (human)2e-36body height (VT:0001253)body height (CMO:0000106)82330267423302675Human
597149334GWAS1245408_Hbody height QTL GWAS1245408 (human)2e-08body height (VT:0001253)body height (CMO:0000106)82330390323303904Human
597341339GWAS1437413_Hbreast density QTL GWAS1437413 (human)0.000004breast density82337194123371942Human
597201309GWAS1297383_Hbody height QTL GWAS1297383 (human)9e-20body height (VT:0001253)body height (CMO:0000106)82331194223311943Human
597534616GWAS1630690_Hbody height QTL GWAS1630690 (human)5e-10body height (VT:0001253)body height (CMO:0000106)82336214423362145Human
597355868GWAS1451942_Hbody height QTL GWAS1451942 (human)9e-26body height (VT:0001253)body height (CMO:0000106)82331569423315695Human
597217695GWAS1313769_Hbody height QTL GWAS1313769 (human)4e-22body height (VT:0001253)body height (CMO:0000106)82331194223311943Human
597337629GWAS1433703_Hsexual dimorphism measurement QTL GWAS1433703 (human)2e-08sexual dimorphism measurement82332805323328055Human
597355869GWAS1451943_Hbody height QTL GWAS1451943 (human)9e-19body height (VT:0001253)body height (CMO:0000106)82333579623335797Human
597118874GWAS1214948_Happendicular lean mass QTL GWAS1214948 (human)1e-16body height (VT:0001253)body height (CMO:0000106)82330984023309841Human
597220886GWAS1316960_Hcorneal resistance factor QTL GWAS1316960 (human)1e-12corneal resistance factor82330264223302643Human
597536915GWAS1632989_Hbody height QTL GWAS1632989 (human)8e-84body height (VT:0001253)body height (CMO:0000106)82336214423362145Human
597198551GWAS1294625_Hbody height QTL GWAS1294625 (human)3e-249body height (VT:0001253)body height (CMO:0000106)82331194223311943Human
597041731GWAS1137805_Hnatriuretic peptides B measurement QTL GWAS1137805 (human)1e-08natriuretic peptides B measurement82337338523373386Human
597197966GWAS1294040_Hbody height QTL GWAS1294040 (human)7e-09body height (VT:0001253)body height (CMO:0000106)82335947323359474Human
597266818GWAS1362892_Hbody height QTL GWAS1362892 (human)6e-09body height (VT:0001253)body height (CMO:0000106)82339050123390502Human
597059658GWAS1155732_Hcentral corneal thickness QTL GWAS1155732 (human)2e-08central corneal thickness82330726023307261Human
597035446GWAS1131520_Hbody height QTL GWAS1131520 (human)6e-51body height (VT:0001253)body height (CMO:0000106)82331607823316079Human
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
597351227GWAS1447301_Hbody height QTL GWAS1447301 (human)9e-100body height (VT:0001253)body height (CMO:0000106)82329746923297470Human
597118326GWAS1214400_Hbody height QTL GWAS1214400 (human)4e-09body height (VT:0001253)body height (CMO:0000106)82330966723309668Human
597146421GWAS1242495_HCOVID-19 QTL GWAS1242495 (human)0.000002COVID-1982334726423347265Human
597579322GWAS1636182_Hbody height QTL GWAS1636182 (human)2e-25body height (VT:0001253)body height (CMO:0000106)82330984023309841Human
597351230GWAS1447304_Hbody height QTL GWAS1447304 (human)7e-113body height (VT:0001253)body height (CMO:0000106)82332171323321714Human
597351231GWAS1447305_Hbody height QTL GWAS1447305 (human)2e-16body height (VT:0001253)body height (CMO:0000106)82332475523324756Human
597351228GWAS1447302_Hbody height QTL GWAS1447302 (human)4e-302body height (VT:0001253)body height (CMO:0000106)82330984023309841Human
597351229GWAS1447303_Hbody height QTL GWAS1447303 (human)2e-10body height (VT:0001253)body height (CMO:0000106)82331666423316665Human
597581876GWAS1638736_Hbody height QTL GWAS1638736 (human)3e-25body height (VT:0001253)body height (CMO:0000106)82330984023309841Human
597249138GWAS1345212_Hcentral corneal thickness QTL GWAS1345212 (human)6e-12central corneal thickness82330264223302643Human
597537142GWAS1633216_Hbody height QTL GWAS1633216 (human)9e-28body height (VT:0001253)body height (CMO:0000106)82336214423362145Human
596978873GWAS1098392_Hbody height QTL GWAS1098392 (human)9e-44body height (VT:0001253)body height (CMO:0000106)82331157423311575Human
597299190GWAS1395264_Hbody height QTL GWAS1395264 (human)9e-49body height (VT:0001253)body height (CMO:0000106)82331157423311575Human
597302836GWAS1398910_Hbody height QTL GWAS1398910 (human)9e-44body height (VT:0001253)body height (CMO:0000106)82331157423311575Human
597582830GWAS1639690_Hbody height QTL GWAS1639690 (human)3e-23body height (VT:0001253)body height (CMO:0000106)82330984023309841Human
597233643GWAS1329717_Happendicular lean mass QTL GWAS1329717 (human)1e-12appendicular lean mass82330984023309841Human
597319084GWAS1415158_Hbody surface area QTL GWAS1415158 (human)7e-16body surface area82330914323309144Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human
597263392GWAS1359466_Hbody height QTL GWAS1359466 (human)5e-24body height (VT:0001253)body height (CMO:0000106)82331397923313980Human

Markers in Region
D16S3138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371677,603,767 - 77,603,991UniSTSGRCh37
GRCh37823,187,085 - 23,187,654UniSTSGRCh37
Build 361676,161,268 - 76,161,492RGDNCBI36
Celera822,149,673 - 22,150,242UniSTS
Celera1661,901,415 - 61,901,639RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,733,121 - 21,733,690UniSTS
HuRef1663,360,053 - 63,360,281UniSTS
Marshfield Genetic Map1693.78UniSTS
Marshfield Genetic Map1693.78RGD
Genethon Genetic Map1692.4UniSTS
deCODE Assembly Map1693.44UniSTS
G59207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,181,704 - 23,182,046UniSTSGRCh37
Build 36823,237,649 - 23,237,991RGDNCBI36
Celera822,144,292 - 22,144,634RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,727,737 - 21,728,079UniSTS
TNG Radiation Hybrid Map812371.0UniSTS
RH124140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37274,761,269 - 74,761,505UniSTSGRCh37
GRCh37823,159,582 - 23,160,857UniSTSGRCh37
Build 36274,614,777 - 74,615,013RGDNCBI36
Celera274,592,377 - 74,592,613RGD
Celera822,122,153 - 22,123,428UniSTS
HuRef821,705,613 - 21,706,888UniSTS
HuRef274,497,530 - 74,497,766UniSTS
SHGC-145691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,221,727 - 23,222,065UniSTSGRCh37
Build 36823,277,672 - 23,278,010RGDNCBI36
Celera822,184,313 - 22,184,651RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,767,143 - 21,767,481UniSTS
TNG Radiation Hybrid Map812394.0UniSTS
SHGC-146104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,194,169 - 23,194,268UniSTSGRCh37
Build 36823,250,114 - 23,250,213RGDNCBI36
Celera822,156,757 - 22,156,856RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,739,591 - 21,739,690UniSTS
TNG Radiation Hybrid Map812386.0UniSTS
LOXL2__6410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,154,706 - 23,155,427UniSTSGRCh37
Build 36823,210,651 - 23,211,372RGDNCBI36
Celera822,117,277 - 22,117,998RGD
HuRef821,700,737 - 21,701,458UniSTS
STS-U89942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,155,355 - 23,155,561UniSTSGRCh37
Build 36823,211,300 - 23,211,506RGDNCBI36
Celera822,117,926 - 22,118,132RGD
Cytogenetic Map8p21.3UniSTS
HuRef821,701,386 - 21,701,592UniSTS
GeneMap99-GB4 RH Map899.08UniSTS
NCBI RH Map8302.5UniSTS


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
1204 2434 2788 2246 4944 1723 2345 4 622 1948 464 2268 7284 6454 52 3710 848 1732 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC090197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF117949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF117950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF928961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF975332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U89942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000389131   ⟹   ENSP00000373783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,296,897 - 23,404,120 (-)Ensembl
Ensembl Acc Id: ENST00000518083   ⟹   ENSP00000430519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,360,166 - 23,371,126 (-)Ensembl
Ensembl Acc Id: ENST00000518472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,331,437 - 23,333,553 (-)Ensembl
Ensembl Acc Id: ENST00000518878   ⟹   ENSP00000427826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,319,885 - 23,341,176 (-)Ensembl
Ensembl Acc Id: ENST00000519243   ⟹   ENSP00000428933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,368,065 - 23,404,226 (-)Ensembl
Ensembl Acc Id: ENST00000519809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,319,961 - 23,329,115 (-)Ensembl
Ensembl Acc Id: ENST00000520349   ⟹   ENSP00000427907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,319,885 - 23,333,495 (-)Ensembl
Ensembl Acc Id: ENST00000520617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,316,734 - 23,320,005 (-)Ensembl
Ensembl Acc Id: ENST00000520871   ⟹   ENSP00000429778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,360,090 - 23,425,328 (-)Ensembl
Ensembl Acc Id: ENST00000520925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,321,737 - 23,333,636 (-)Ensembl
Ensembl Acc Id: ENST00000522446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,319,927 - 23,328,768 (-)Ensembl
Ensembl Acc Id: ENST00000523833   ⟹   ENSP00000473322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,316,984 - 23,404,126 (-)Ensembl
Ensembl Acc Id: ENST00000524075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,403,906 - 23,425,301 (-)Ensembl
Ensembl Acc Id: ENST00000524144   ⟹   ENSP00000427883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,360,090 - 23,425,291 (-)Ensembl
Ensembl Acc Id: ENST00000524168   ⟹   ENSP00000428497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl823,360,204 - 23,404,076 (-)Ensembl
RefSeq Acc Id: NM_002318   ⟹   NP_002309
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,296,897 - 23,404,120 (-)NCBI
GRCh37823,154,410 - 23,261,722 (-)ENTREZGENE
Build 36823,210,355 - 23,317,667 (-)NCBI Archive
HuRef821,700,441 - 21,807,111 (-)ENTREZGENE
CHM1_1823,356,541 - 23,463,832 (-)NCBI
T2T-CHM13v2.0823,571,770 - 23,679,001 (-)NCBI
Sequence:
RefSeq Acc Id: NP_002309   ⟸   NM_002318
- Peptide Label: precursor
- UniProtKB: Q9BW70 (UniProtKB/Swiss-Prot),   Q53HV3 (UniProtKB/Swiss-Prot),   B2R5Q0 (UniProtKB/Swiss-Prot),   Q9Y5Y8 (UniProtKB/Swiss-Prot),   Q9Y4K0 (UniProtKB/Swiss-Prot),   W8QRJ0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000427826   ⟸   ENST00000518878
Ensembl Acc Id: ENSP00000430519   ⟸   ENST00000518083
Ensembl Acc Id: ENSP00000428933   ⟸   ENST00000519243
Ensembl Acc Id: ENSP00000373783   ⟸   ENST00000389131
Ensembl Acc Id: ENSP00000427907   ⟸   ENST00000520349
Ensembl Acc Id: ENSP00000429778   ⟸   ENST00000520871
Ensembl Acc Id: ENSP00000473322   ⟸   ENST00000523833
Ensembl Acc Id: ENSP00000427883   ⟸   ENST00000524144
Ensembl Acc Id: ENSP00000428497   ⟸   ENST00000524168
Protein Domains
SRCR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y4K0-F1-model_v2 AlphaFold Q9Y4K0 1-774 view protein structure

Promoters
RGD ID:6806843
Promoter ID:HG_KWN:60927
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_002318
Position:
Human AssemblyChrPosition (strand)Source
Build 36823,317,141 - 23,317,641 (-)MPROMDB
RGD ID:7212873
Promoter ID:EPDNEW_H12182
Type:initiation region
Name:LOXL2_1
Description:lysyl oxidase like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12183  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,404,120 - 23,404,180EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6666 AgrOrtholog
COSMIC LOXL2 COSMIC
Ensembl Genes ENSG00000134013 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000389131 ENTREZGENE
  ENST00000389131.8 UniProtKB/Swiss-Prot
  ENST00000518083.5 UniProtKB/TrEMBL
  ENST00000518878.5 UniProtKB/TrEMBL
  ENST00000519243.1 UniProtKB/TrEMBL
  ENST00000520349.1 UniProtKB/TrEMBL
  ENST00000520871.1 UniProtKB/TrEMBL
  ENST00000523833.2 UniProtKB/TrEMBL
  ENST00000524144.5 UniProtKB/TrEMBL
  ENST00000524168.1 UniProtKB/TrEMBL
Gene3D-CATH 3.10.250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134013 GTEx
HGNC ID HGNC:6666 ENTREZGENE
Human Proteome Map LOXL2 Human Proteome Map
InterPro LOX-like_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lysyl_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lysyl_oxidase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4017 UniProtKB/Swiss-Prot
NCBI Gene 4017 ENTREZGENE
OMIM 606663 OMIM
PANTHER LYSYL OXIDASE HOMOLOG 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LYSYL OXIDASE-LIKE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lysyl_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30429 PharmGKB
PRINTS LYSYLOXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPERACTRCPTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LYSYL_OXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00202 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56487 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R5Q0 ENTREZGENE
  E5RFE2_HUMAN UniProtKB/TrEMBL
  E5RFY0_HUMAN UniProtKB/TrEMBL
  E5RHH3_HUMAN UniProtKB/TrEMBL
  E5RI22_HUMAN UniProtKB/TrEMBL
  E5RJL2_HUMAN UniProtKB/TrEMBL
  H0YAP6_HUMAN UniProtKB/TrEMBL
  H0YAR1_HUMAN UniProtKB/TrEMBL
  LOXL2_HUMAN UniProtKB/Swiss-Prot
  Q53HV3 ENTREZGENE
  Q9BW70 ENTREZGENE
  Q9Y4K0 ENTREZGENE
  Q9Y5Y8 ENTREZGENE
  R4GMS2_HUMAN UniProtKB/TrEMBL
  W6I206_HUMAN UniProtKB/TrEMBL
  W8QRJ0 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R5Q0 UniProtKB/Swiss-Prot
  Q53HV3 UniProtKB/Swiss-Prot
  Q9BW70 UniProtKB/Swiss-Prot
  Q9Y5Y8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 LOXL2  lysyl oxidase like 2  LOXL2  lysyl oxidase-like 2  Symbol and/or name change 5135510 APPROVED