LRTM2 (leucine rich repeats and transmembrane domains 2) - Rat Genome Database

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Gene: LRTM2 (leucine rich repeats and transmembrane domains 2) Homo sapiens
Analyze
Symbol: LRTM2
Name: leucine rich repeats and transmembrane domains 2
RGD ID: 1605448
HGNC Page HGNC:32443
Description: Predicted to enable Roundabout binding activity and heparin binding activity. Predicted to be involved in axon guidance and negative chemotaxis. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ42697; leucine-rich repeat and transmembrane domain-containing protein 2; leucine-rich repeats and transmembrane domains 2
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
GRCh38121,820,565 - 1,836,753 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl121,820,267 - 1,836,753 (+)EnsemblGRCh38hg38GRCh38
GRCh37121,929,731 - 1,945,919 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36121,799,956 - 1,816,179 (+)NCBINCBI36Build 36hg18NCBI36
Celera123,537,149 - 3,553,636 (+)NCBICelera
Cytogenetic Map12p13.33NCBI
HuRef121,783,986 - 1,800,486 (+)NCBIHuRef
CHM1_1121,928,563 - 1,945,065 (+)NCBICHM1_1
T2T-CHM13v2.0121,816,705 - 1,832,896 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:21873635   PMID:23942779   PMID:33961781   PMID:36724073  


Genomics

Comparative Map Data
LRTM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38121,820,565 - 1,836,753 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl121,820,267 - 1,836,753 (+)EnsemblGRCh38hg38GRCh38
GRCh37121,929,731 - 1,945,919 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36121,799,956 - 1,816,179 (+)NCBINCBI36Build 36hg18NCBI36
Celera123,537,149 - 3,553,636 (+)NCBICelera
Cytogenetic Map12p13.33NCBI
HuRef121,783,986 - 1,800,486 (+)NCBIHuRef
CHM1_1121,928,563 - 1,945,065 (+)NCBICHM1_1
T2T-CHM13v2.0121,816,705 - 1,832,896 (+)NCBIT2T-CHM13v2.0
Lrtm2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396119,292,094 - 119,315,009 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6119,292,094 - 119,307,727 (-)EnsemblGRCm39 Ensembl
GRCm386119,315,133 - 119,332,270 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6119,315,133 - 119,330,766 (-)EnsemblGRCm38mm10GRCm38
MGSCv376119,265,151 - 119,280,784 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366119,280,752 - 119,296,352 (-)NCBIMGSCv36mm8
Celera6121,147,730 - 121,163,399 (-)NCBICelera
Cytogenetic Map6F1NCBI
cM Map656.73NCBI
Lrtm2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84154,158,165 - 154,180,389 (-)NCBIGRCr8
mRatBN7.24152,485,863 - 152,508,248 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4152,485,866 - 152,500,377 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4158,752,102 - 158,766,645 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04154,535,796 - 154,550,343 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04153,159,133 - 153,173,676 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04151,375,568 - 151,397,485 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4151,375,572 - 151,390,263 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04217,290,880 - 217,306,404 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44155,624,127 - 155,638,784 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4141,350,062 - 141,364,759 (-)NCBICelera
Cytogenetic Map4q42NCBI
Lrtm2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554544,355,695 - 4,373,207 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554544,355,698 - 4,372,041 (+)NCBIChiLan1.0ChiLan1.0
LRTM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2107,342,264 - 7,377,148 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1127,339,023 - 7,373,909 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0121,932,851 - 1,949,485 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1121,882,930 - 1,899,407 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl121,882,930 - 1,899,407 (+)Ensemblpanpan1.1panPan2
LRTM2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12743,870,799 - 43,887,584 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2743,877,684 - 43,887,595 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha272,797,581 - 2,814,474 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02744,240,902 - 44,257,802 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2744,241,162 - 44,257,803 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12744,168,928 - 44,185,811 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02744,141,593 - 44,158,471 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0272,155,295 - 2,172,195 (-)NCBIUU_Cfam_GSD_1.0
Lrtm2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945107,131,669 - 107,148,423 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366062,042,844 - 2,055,028 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366062,035,359 - 2,052,188 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRTM2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl568,822,539 - 68,836,514 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1568,821,815 - 68,836,518 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2570,968,145 - 70,992,730 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LRTM2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1111,867,081 - 1,884,255 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660636,442,908 - 6,452,268 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lrtm2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473511,055,971 - 11,066,338 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473511,056,080 - 11,073,939 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LRTM2
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1 copy number loss See cases [RCV000050637] Chr12:121255..3968447 [GRCh38]
Chr12:282465..4077613 [GRCh37]
Chr12:100682..3947874 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33(chr12:1453550-2575642)x3 copy number gain See cases [RCV000051953] Chr12:1453550..2575642 [GRCh38]
Chr12:1562716..2684808 [GRCh37]
Chr12:1432977..2555069 [NCBI36]
Chr12:12p13.33		 uncertain significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3 copy number gain See cases [RCV000053665] Chr12:199896..3284963 [GRCh38]
Chr12:309062..3394129 [GRCh37]
Chr12:179323..3264390 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:1764264-4231744)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]|See cases [RCV000053669] Chr12:1764264..4231744 [GRCh38]
Chr12:1873430..4340910 [GRCh37]
Chr12:1743691..4211171 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
NM_001039029.2(LRTM2):c.1108G>A (p.Ala370Thr) single nucleotide variant Malignant melanoma [RCV000069917] Chr12:1834716 [GRCh38]
Chr12:1943882 [GRCh37]
Chr12:1814143 [NCBI36]
Chr12:12p13.33		 not provided
NM_172364.4(CACNA2D4):c.2552-10951G>A single nucleotide variant Lung cancer [RCV000110849] Chr12:1822674 [GRCh38]
Chr12:1931840 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33(chr12:1678885-2546760)x3 copy number gain See cases [RCV000135390] Chr12:1678885..2546760 [GRCh38]
Chr12:1788051..2655926 [GRCh37]
Chr12:1658312..2526187 [NCBI36]
Chr12:12p13.33		 uncertain significance
GRCh38/hg38 12p13.33(chr12:54452-2558097)x1 copy number loss See cases [RCV000136313] Chr12:54452..2558097 [GRCh38]
Chr12:282465..2667263 [GRCh37]
Chr12:33879..2537524 [NCBI36]
Chr12:12p13.33		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1 copy number loss See cases [RCV000136848] Chr12:199896..5807366 [GRCh38]
Chr12:309062..5916532 [GRCh37]
Chr12:179323..5786793 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33(chr12:80412-2850599)x1 copy number loss See cases [RCV000137693] Chr12:80412..2850599 [GRCh38]
Chr12:282465..2959765 [GRCh37]
Chr12:59839..2830026 [NCBI36]
Chr12:12p13.33		 pathogenic|uncertain significance
GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1 copy number loss See cases [RCV000138558] Chr12:80412..4420585 [GRCh38]
Chr12:282465..4529751 [GRCh37]
Chr12:59839..4400012 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1 copy number loss See cases [RCV000141250] Chr12:54427..3639603 [GRCh38]
Chr12:282465..3748769 [GRCh37]
Chr12:33854..3619030 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1 copy number loss See cases [RCV000140991] Chr12:54427..4004912 [GRCh38]
Chr12:282465..4114078 [GRCh37]
Chr12:33854..3984339 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33(chr12:121255-3003320)x1 copy number loss See cases [RCV000142595] Chr12:121255..3003320 [GRCh38]
Chr12:282465..3112486 [GRCh37]
Chr12:100682..2982747 [NCBI36]
Chr12:12p13.33		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3 copy number gain See cases [RCV000143357] Chr12:418421..6235914 [GRCh38]
Chr12:527587..6345080 [GRCh37]
Chr12:397848..6215341 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33(chr12:1555573-2655985)x3 copy number gain See cases [RCV000240005] Chr12:1555573..2655985 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1 copy number loss See cases [RCV000239873] Chr12:222888..3931052 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6378954)x1 copy number loss See cases [RCV000447106] Chr12:173786..6378954 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5737510)x1 copy number loss See cases [RCV000446628] Chr12:173786..5737510 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33(chr12:173786-2865649)x1 copy number loss See cases [RCV000447876] Chr12:173786..2865649 [GRCh37]
Chr12:12p13.33		 pathogenic
GRCh37/hg19 12p13.33(chr12:1944712-1985274)x1 copy number loss See cases [RCV000447983] Chr12:1944712..1985274 [GRCh37]
Chr12:12p13.33		 likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33(chr12:173786-2108237)x3 copy number gain See cases [RCV000510561] Chr12:173786..2108237 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
NM_001039029.3(LRTM2):c.542G>A (p.Arg181Gln) single nucleotide variant not specified [RCV004331091] Chr12:1831409 [GRCh38]
Chr12:1940575 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.196G>A (p.Val66Met) single nucleotide variant not specified [RCV004287901] Chr12:1831063 [GRCh38]
Chr12:1940229 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33(chr12:173786-2793493)x1 copy number loss not provided [RCV000683468] Chr12:173786..2793493 [GRCh37]
Chr12:12p13.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1 copy number loss not provided [RCV000683471] Chr12:173786..4105910 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1 copy number loss not provided [RCV000683474] Chr12:173786..5952112 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1 copy number loss not provided [RCV000683476] Chr12:173786..6201932 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1 copy number loss not provided [RCV000683475] Chr12:173786..6039841 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31		 pathogenic|not provided
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_001039029.3(LRTM2):c.242G>C (p.Ser81Thr) single nucleotide variant not specified [RCV004320553] Chr12:1831109 [GRCh38]
Chr12:1940275 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1 copy number loss not provided [RCV000847821] Chr12:173786..6346092 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33(chr12:1436977-2156672)x3 copy number gain not provided [RCV000849160] Chr12:1436977..2156672 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:1944712-1986237)x1 copy number loss not provided [RCV000848005] Chr12:1944712..1986237 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:1944805-1986237)x1 copy number loss not provided [RCV000848256] Chr12:1944805..1986237 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:1944712-1986237)x1 copy number loss not provided [RCV000848276] Chr12:1944712..1986237 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:1944712-1986237)x1 copy number loss not provided [RCV000848277] Chr12:1944712..1986237 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33(chr12:1944712-1985274)x1 copy number loss not provided [RCV000847855] Chr12:1944712..1985274 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:1944712-1985274)x1 copy number loss not provided [RCV000846196] Chr12:1944712..1985274 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1 copy number loss not provided [RCV001259134] Chr12:191242..4683495 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
NC_000012.11:g.(?_862732)_(2800365_?)dup duplication not provided [RCV003113825] Chr12:862732..2800365 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.898C>T (p.Arg300Trp) single nucleotide variant not specified [RCV004312619] Chr12:1834506 [GRCh38]
Chr12:1943672 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_001039029.3(LRTM2):c.1081G>C (p.Glu361Gln) single nucleotide variant not specified [RCV004208574] Chr12:1834689 [GRCh38]
Chr12:1943855 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33(chr12:817514-2205439)x1 copy number loss not provided [RCV002475589] Chr12:817514..2205439 [GRCh37]
Chr12:12p13.33		 pathogenic
NM_001039029.3(LRTM2):c.166G>A (p.Gly56Ser) single nucleotide variant not specified [RCV004233726] Chr12:1831033 [GRCh38]
Chr12:1940199 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.445A>C (p.Ile149Leu) single nucleotide variant not specified [RCV004146756] Chr12:1831312 [GRCh38]
Chr12:1940478 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.491T>C (p.Leu164Pro) single nucleotide variant not specified [RCV004226389] Chr12:1831358 [GRCh38]
Chr12:1940524 [GRCh37]
Chr12:12p13.33		 likely benign
NM_001039029.3(LRTM2):c.52T>C (p.Trp18Arg) single nucleotide variant not specified [RCV004128139] Chr12:1828200 [GRCh38]
Chr12:1937366 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.26G>A (p.Gly9Glu) single nucleotide variant not specified [RCV004209324] Chr12:1828174 [GRCh38]
Chr12:1937340 [GRCh37]
Chr12:12p13.33		 likely benign
NM_001039029.3(LRTM2):c.44C>T (p.Ala15Val) single nucleotide variant not specified [RCV004199680] Chr12:1828192 [GRCh38]
Chr12:1937358 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.106C>T (p.Leu36Phe) single nucleotide variant not specified [RCV004074904] Chr12:1830973 [GRCh38]
Chr12:1940139 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.484G>A (p.Gly162Arg) single nucleotide variant not specified [RCV004126328] Chr12:1831351 [GRCh38]
Chr12:1940517 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.396C>A (p.Asp132Glu) single nucleotide variant not specified [RCV004178889] Chr12:1831263 [GRCh38]
Chr12:1940429 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.349A>G (p.Asn117Asp) single nucleotide variant not specified [RCV004228431] Chr12:1831216 [GRCh38]
Chr12:1940382 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_001039029.3(LRTM2):c.905C>A (p.Ala302Glu) single nucleotide variant not specified [RCV004331490] Chr12:1834513 [GRCh38]
Chr12:1943679 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.844G>A (p.Gly282Arg) single nucleotide variant not specified [RCV004339975] Chr12:1834452 [GRCh38]
Chr12:1943618 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.269A>C (p.Asn90Thr) single nucleotide variant not specified [RCV004364126] Chr12:1831136 [GRCh38]
Chr12:1940302 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1 copy number loss not provided [RCV003483146] Chr12:191243..5332596 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33(chr12:173787-2431561)x1 copy number loss not provided [RCV003483145] Chr12:173787..2431561 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.903G>A (p.Pro301=) single nucleotide variant not provided [RCV003390147] Chr12:1834511 [GRCh38]
Chr12:1943677 [GRCh37]
Chr12:12p13.33		 likely benign
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33(chr12:922808-2129821)x1 copy number loss not provided [RCV003885454] Chr12:922808..2129821 [GRCh37]
Chr12:12p13.33		 likely pathogenic
NM_001039029.3(LRTM2):c.409C>T (p.Arg137Trp) single nucleotide variant not specified [RCV004408105] Chr12:1831276 [GRCh38]
Chr12:1940442 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.265G>A (p.Ala89Thr) single nucleotide variant not specified [RCV004408101] Chr12:1831132 [GRCh38]
Chr12:1940298 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.287G>A (p.Arg96Gln) single nucleotide variant not specified [RCV004408103] Chr12:1831154 [GRCh38]
Chr12:1940320 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.402C>A (p.Asp134Glu) single nucleotide variant not specified [RCV004408104] Chr12:1831269 [GRCh38]
Chr12:1940435 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.451G>A (p.Gly151Ser) single nucleotide variant not specified [RCV004408106] Chr12:1831318 [GRCh38]
Chr12:1940484 [GRCh37]
Chr12:12p13.33		 uncertain significance
NM_001039029.3(LRTM2):c.509C>G (p.Ser170Trp) single nucleotide variant not specified [RCV004408107] Chr12:1831376 [GRCh38]
Chr12:1940542 [GRCh37]
Chr12:12p13.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6569
Count of miRNA genes:992
Interacting mature miRNAs:1246
Transcripts:ENST00000299194, ENST00000535041, ENST00000539859, ENST00000540378, ENST00000542529, ENST00000543694, ENST00000543730, ENST00000543818, ENST00000544489, ENST00000545157, ENST00000546157, ENST00000546167
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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 1 1 970 3 11
Low 1 1 7 2 7 2 10 3 1507 13 232 45 2 1 5
Below cutoff 1715 1696 924 146 972 78 2567 1064 1006 64 693 974 71 724 1629 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001163925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001163926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC129997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX115405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA336140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA418133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000299194   ⟹   ENSP00000299194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,820,565 - 1,836,753 (+)Ensembl
RefSeq Acc Id: ENST00000535041   ⟹   ENSP00000444737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,820,631 - 1,836,399 (+)Ensembl
RefSeq Acc Id: ENST00000539859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,820,584 - 1,827,816 (+)Ensembl
RefSeq Acc Id: ENST00000540378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,820,574 - 1,831,230 (+)Ensembl
RefSeq Acc Id: ENST00000542529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,820,510 - 1,827,797 (+)Ensembl
RefSeq Acc Id: ENST00000543694   ⟹   ENSP00000444104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,823,236 - 1,831,154 (+)Ensembl
RefSeq Acc Id: ENST00000543730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,820,510 - 1,836,748 (+)Ensembl
RefSeq Acc Id: ENST00000543818   ⟹   ENSP00000446278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,820,267 - 1,836,752 (+)Ensembl
RefSeq Acc Id: ENST00000544489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,820,572 - 1,830,968 (+)Ensembl
RefSeq Acc Id: ENST00000545157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,820,483 - 1,827,728 (+)Ensembl
RefSeq Acc Id: ENST00000546157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,827,563 - 1,831,101 (+)Ensembl
RefSeq Acc Id: ENST00000546167   ⟹   ENSP00000438678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl121,822,082 - 1,831,146 (+)Ensembl
RefSeq Acc Id: NM_001039029   ⟹   NP_001034118
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,820,565 - 1,836,753 (+)NCBI
GRCh37121,929,433 - 1,945,919 (+)NCBI
Build 36121,799,956 - 1,816,179 (+)NCBI Archive
Celera123,537,149 - 3,553,636 (+)RGD
HuRef121,783,986 - 1,800,486 (+)ENTREZGENE
CHM1_1121,928,563 - 1,945,065 (+)NCBI
T2T-CHM13v2.0121,816,705 - 1,832,896 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001163925   ⟹   NP_001157397
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,820,565 - 1,836,753 (+)NCBI
GRCh37121,929,433 - 1,945,919 (+)NCBI
Celera123,537,149 - 3,553,636 (+)RGD
HuRef121,783,986 - 1,800,486 (+)ENTREZGENE
CHM1_1121,928,563 - 1,945,065 (+)NCBI
T2T-CHM13v2.0121,816,705 - 1,832,896 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001163926   ⟹   NP_001157398
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,820,565 - 1,836,753 (+)NCBI
GRCh37121,929,433 - 1,945,919 (+)NCBI
Celera123,537,149 - 3,553,636 (+)RGD
HuRef121,783,986 - 1,800,486 (+)ENTREZGENE
CHM1_1121,928,563 - 1,945,065 (+)NCBI
T2T-CHM13v2.0121,816,705 - 1,832,896 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521015   ⟹   XP_011519317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,820,565 - 1,836,753 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047429421   ⟹   XP_047285377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,820,565 - 1,836,753 (+)NCBI
RefSeq Acc Id: XM_054373008   ⟹   XP_054228983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,816,705 - 1,832,896 (+)NCBI
RefSeq Acc Id: XM_054373009   ⟹   XP_054228984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0121,816,705 - 1,832,896 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001034118   ⟸   NM_001039029
- Peptide Label: precursor
- UniProtKB: A7E2U6 (UniProtKB/Swiss-Prot),   Q8N967 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001157397   ⟸   NM_001163925
- Peptide Label: precursor
- UniProtKB: A7E2U6 (UniProtKB/Swiss-Prot),   Q8N967 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001157398   ⟸   NM_001163926
- Peptide Label: precursor
- UniProtKB: A7E2U6 (UniProtKB/Swiss-Prot),   Q8N967 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519317   ⟸   XM_011521015
- Peptide Label: isoform X2
- UniProtKB: A7E2U6 (UniProtKB/Swiss-Prot),   Q8N967 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000446278   ⟸   ENST00000543818
RefSeq Acc Id: ENSP00000444104   ⟸   ENST00000543694
RefSeq Acc Id: ENSP00000438678   ⟸   ENST00000546167
RefSeq Acc Id: ENSP00000299194   ⟸   ENST00000299194
RefSeq Acc Id: ENSP00000444737   ⟸   ENST00000535041
RefSeq Acc Id: XP_047285377   ⟸   XM_047429421
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054228983   ⟸   XM_054373008
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054228984   ⟸   XM_054373009
- Peptide Label: isoform X2
- UniProtKB: Q8N967 (UniProtKB/Swiss-Prot),   A7E2U6 (UniProtKB/Swiss-Prot)
Protein Domains
LRRCT   LRRNT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N967-F1-model_v2 AlphaFold Q8N967 1-370 view protein structure

Promoters
RGD ID:7222751
Promoter ID:EPDNEW_H17120
Type:initiation region
Name:LRTM2_1
Description:leucine rich repeats and transmembrane domains 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38121,820,571 - 1,820,631EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32443 AgrOrtholog
COSMIC LRTM2 COSMIC
Ensembl Genes ENSG00000166159 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285383 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000299194 ENTREZGENE
  ENST00000299194.6 UniProtKB/Swiss-Prot
  ENST00000535041 ENTREZGENE
  ENST00000535041.5 UniProtKB/Swiss-Prot
  ENST00000543694.1 UniProtKB/TrEMBL
  ENST00000543818 ENTREZGENE
  ENST00000543818.5 UniProtKB/Swiss-Prot
  ENST00000546167.5 UniProtKB/TrEMBL
  ENST00000643163.1 UniProtKB/Swiss-Prot
  ENST00000643383.1 UniProtKB/Swiss-Prot
  ENST00000646030.2 UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166159 GTEx
  ENSG00000285383 GTEx
HGNC ID HGNC:32443 ENTREZGENE
Human Proteome Map LRTM2 Human Proteome Map
InterPro Cys-rich_flank_reg_C UniProtKB/Swiss-Prot
  Leu-rich_rpt UniProtKB/Swiss-Prot
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:654429 UniProtKB/Swiss-Prot
NCBI Gene 654429 ENTREZGENE
PANTHER ANTIGEN BSP, PUTATIVE-RELATED UniProtKB/Swiss-Prot
  GLYCOPROTEIN IB BETA UniProtKB/TrEMBL
  LEUCINE RICH REPEATS AND TRANSMEMBRANE DOMAINS 2 UniProtKB/Swiss-Prot
  LRRNT DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  PLATELET GLYCOPROTEIN IX UniProtKB/TrEMBL
Pfam LRR_8 UniProtKB/Swiss-Prot
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671500 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot
SMART LRR_TYP UniProtKB/Swiss-Prot
  LRRCT UniProtKB/Swiss-Prot
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A7E2U6 ENTREZGENE
  F5GZY9_HUMAN UniProtKB/TrEMBL
  F5H2B4_HUMAN UniProtKB/TrEMBL
  LRTM2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A7E2U6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 LRTM2  leucine rich repeats and transmembrane domains 2    leucine-rich repeats and transmembrane domains 2  Symbol and/or name change 5135510 APPROVED