LRRN2 (leucine rich repeat neuronal 2) - Rat Genome Database

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Gene: LRRN2 (leucine rich repeat neuronal 2) Homo sapiens
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Symbol: LRRN2
Name: leucine rich repeat neuronal 2
RGD ID: 1313534
HGNC Page HGNC:16914
Description: Predicted to enable signaling receptor activity. Predicted to be involved in cell adhesion and signal transduction. Predicted to be located in membrane. Predicted to be active in extracellular matrix and extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: fibronectin type III, immunoglobulin and leucine rich repeat domain 7; FIGLER7; GAC1; glioma amplified on chromosome 1 protein; leucine rich and ankyrin repeats 1; leucine rich repeat neuronal 5; leucine-rich repeat neuronal protein 2; leucine-rich repeat neuronal protein 5; LRANK1; LRRN5
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
GRCh381204,617,170 - 204,685,738 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1204,617,170 - 204,685,738 (-)EnsemblGRCh38hg38GRCh38
GRCh371204,586,298 - 204,654,866 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361202,852,924 - 202,921,220 (-)NCBINCBI36Build 36hg18NCBI36
Celera1177,721,461 - 177,789,729 (-)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1175,751,543 - 175,819,947 (-)NCBIHuRef
CHM1_11206,009,687 - 206,077,989 (-)NCBICHM1_1
T2T-CHM13v2.01203,881,574 - 203,950,138 (-)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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8401585   PMID:9662332   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15489334   PMID:16710414   PMID:20379614   PMID:21873635   PMID:21988832   PMID:23535732   PMID:23535733  
PMID:23722424   PMID:25201988   PMID:27357360   PMID:28514442   PMID:33845483   PMID:33961781   PMID:34622496   PMID:35894759   PMID:35914814   PMID:37788672  


Genomics

Comparative Map Data
LRRN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381204,617,170 - 204,685,738 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1204,617,170 - 204,685,738 (-)EnsemblGRCh38hg38GRCh38
GRCh371204,586,298 - 204,654,866 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361202,852,924 - 202,921,220 (-)NCBINCBI36Build 36hg18NCBI36
Celera1177,721,461 - 177,789,729 (-)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1175,751,543 - 175,819,947 (-)NCBIHuRef
CHM1_11206,009,687 - 206,077,989 (-)NCBICHM1_1
T2T-CHM13v2.01203,881,574 - 203,950,138 (-)NCBIT2T-CHM13v2.0
Lrrn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391132,808,093 - 132,867,743 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1132,808,011 - 132,867,743 (+)EnsemblGRCm39 Ensembl
GRCm381132,880,355 - 132,940,005 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1132,880,273 - 132,940,005 (+)EnsemblGRCm38mm10GRCm38
MGSCv371134,776,932 - 134,836,582 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361134,707,901 - 134,767,505 (+)NCBIMGSCv36mm8
Celera1135,489,048 - 135,548,797 (+)NCBICelera
Cytogenetic Map1E4NCBI
cM Map157.69NCBI
Lrrn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81346,874,048 - 46,934,544 (+)NCBIGRCr8
mRatBN7.21344,321,944 - 44,382,454 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1344,321,364 - 44,382,482 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1346,928,913 - 46,989,187 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01348,217,024 - 48,277,296 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01345,477,737 - 45,538,047 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01349,660,356 - 49,730,275 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1349,660,356 - 49,730,275 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01354,735,286 - 54,801,198 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41345,835,522 - 45,837,774 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11345,849,460 - 45,852,366 (+)NCBI
Celera1344,656,211 - 44,716,704 (+)NCBICelera
Cytogenetic Map13q13NCBI
Lrrn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540640,442,680 - 40,499,945 (-)NCBIChiLan1.0ChiLan1.0
LRRN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2144,692,157 - 44,760,682 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1144,657,361 - 44,729,059 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01180,208,932 - 180,287,250 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11184,506,640 - 184,554,276 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1184,507,321 - 184,509,462 (-)Ensemblpanpan1.1panPan2
LRRN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1381,163,974 - 1,218,069 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl381,164,664 - 1,166,802 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha381,258,548 - 1,320,041 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0381,159,406 - 1,220,934 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1381,156,215 - 1,217,700 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0381,547,119 - 1,608,604 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0381,747,852 - 1,809,364 (-)NCBIUU_Cfam_GSD_1.0
Lrrn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934470,975,220 - 70,979,318 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936567210,862 - 214,526 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRRN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl965,279,485 - 65,352,945 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1965,279,480 - 65,352,792 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2971,613,109 - 71,666,271 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LRRN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12524,660,036 - 24,727,653 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2524,724,833 - 24,726,974 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605525,417,767 - 25,485,807 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lrrn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248076,376,669 - 6,436,809 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LRRN2
73 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_201630.2(LRRN2):c.1678A>G (p.Ser560Gly) single nucleotide variant not specified [RCV004314245] Chr1:204618315 [GRCh38]
Chr1:204587443 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1640C>T (p.Thr547Ile) single nucleotide variant not specified [RCV004295882] Chr1:204618353 [GRCh38]
Chr1:204587481 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.11:g.(?_204033173)_(208209798_?)del deletion Autism [RCV000754138] Chr1:204033173..208209798 [GRCh38]
Chr1:1q32.1-32.2		 likely pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
NM_201630.2(LRRN2):c.133T>G (p.Ser45Ala) single nucleotide variant not specified [RCV004333412] Chr1:204619860 [GRCh38]
Chr1:204588988 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.687C>T (p.Ser229=) single nucleotide variant not provided [RCV000898970] Chr1:204619306 [GRCh38]
Chr1:204588434 [GRCh37]
Chr1:1q32.1		 benign
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
NM_201630.2(LRRN2):c.349C>A (p.Pro117Thr) single nucleotide variant not specified [RCV004321914] Chr1:204619644 [GRCh38]
Chr1:204588772 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_200522516)_(206945780_?)dup duplication Epilepsy, familial adult myoclonic, 5 [RCV003116306] Chr1:200522516..206945780 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_200522516)_(208391267_?)dup duplication Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] Chr1:200522516..208391267 [GRCh37]
Chr1:1q32.1-32.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_201630.2(LRRN2):c.1225C>T (p.Arg409Cys) single nucleotide variant not specified [RCV004302589] Chr1:204618768 [GRCh38]
Chr1:204587896 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1645C>T (p.Pro549Ser) single nucleotide variant not specified [RCV004160077] Chr1:204618348 [GRCh38]
Chr1:204587476 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1696G>A (p.Gly566Ser) single nucleotide variant not specified [RCV004143452] Chr1:204618297 [GRCh38]
Chr1:204587425 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1889G>T (p.Gly630Val) single nucleotide variant not specified [RCV004603385] Chr1:204618104 [GRCh38]
Chr1:204587232 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1424G>A (p.Arg475Gln) single nucleotide variant not specified [RCV004244235] Chr1:204618569 [GRCh38]
Chr1:204587697 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_201630.2(LRRN2):c.647G>A (p.Arg216His) single nucleotide variant not specified [RCV004092632] Chr1:204619346 [GRCh38]
Chr1:204588474 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1148C>T (p.Thr383Met) single nucleotide variant not specified [RCV004196626] Chr1:204618845 [GRCh38]
Chr1:204587973 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1291C>G (p.Pro431Ala) single nucleotide variant not specified [RCV004141470] Chr1:204618702 [GRCh38]
Chr1:204587830 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1226G>A (p.Arg409His) single nucleotide variant not specified [RCV004097416] Chr1:204618767 [GRCh38]
Chr1:204587895 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.262G>C (p.Glu88Gln) single nucleotide variant not specified [RCV004152484] Chr1:204619731 [GRCh38]
Chr1:204588859 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.143G>T (p.Arg48Leu) single nucleotide variant not specified [RCV004139431] Chr1:204619850 [GRCh38]
Chr1:204588978 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1280G>A (p.Arg427Gln) single nucleotide variant not specified [RCV004175032] Chr1:204618713 [GRCh38]
Chr1:204587841 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.547C>T (p.Arg183Cys) single nucleotide variant not specified [RCV004238196] Chr1:204619446 [GRCh38]
Chr1:204588574 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.130C>T (p.Arg44Cys) single nucleotide variant not specified [RCV004200679] Chr1:204619863 [GRCh38]
Chr1:204588991 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1915G>A (p.Val639Ile) single nucleotide variant not specified [RCV004216384] Chr1:204618078 [GRCh38]
Chr1:204587206 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.628C>T (p.Arg210Trp) single nucleotide variant not specified [RCV004197016] Chr1:204619365 [GRCh38]
Chr1:204588493 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.994C>A (p.His332Asn) single nucleotide variant not specified [RCV004155861] Chr1:204618999 [GRCh38]
Chr1:204588127 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.241A>G (p.Ile81Val) single nucleotide variant not specified [RCV004223556] Chr1:204619752 [GRCh38]
Chr1:204588880 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.836G>A (p.Gly279Glu) single nucleotide variant not specified [RCV004172599] Chr1:204619157 [GRCh38]
Chr1:204588285 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1241G>A (p.Arg414Gln) single nucleotide variant not specified [RCV004221344] Chr1:204618752 [GRCh38]
Chr1:204587880 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1594C>T (p.Arg532Trp) single nucleotide variant not specified [RCV004123690] Chr1:204618399 [GRCh38]
Chr1:204587527 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.901A>G (p.Ile301Val) single nucleotide variant not specified [RCV004235410] Chr1:204619092 [GRCh38]
Chr1:204588220 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1948C>G (p.Leu650Val) single nucleotide variant not specified [RCV004080257] Chr1:204618045 [GRCh38]
Chr1:204587173 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.392G>A (p.Arg131Gln) single nucleotide variant not specified [RCV004196952] Chr1:204619601 [GRCh38]
Chr1:204588729 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.815C>T (p.Pro272Leu) single nucleotide variant not specified [RCV004226189] Chr1:204619178 [GRCh38]
Chr1:204588306 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.354G>C (p.Gln118His) single nucleotide variant not specified [RCV004278952] Chr1:204619639 [GRCh38]
Chr1:204588767 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.463C>T (p.Arg155Cys) single nucleotide variant not specified [RCV004253611] Chr1:204619530 [GRCh38]
Chr1:204588658 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.751C>T (p.Arg251Trp) single nucleotide variant not specified [RCV004251643] Chr1:204619242 [GRCh38]
Chr1:204588370 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1912G>A (p.Ala638Thr) single nucleotide variant not specified [RCV004267649] Chr1:204618081 [GRCh38]
Chr1:204587209 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1928C>T (p.Ala643Val) single nucleotide variant not specified [RCV004343462] Chr1:204618065 [GRCh38]
Chr1:204587193 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1194G>A (p.Ala398=) single nucleotide variant not provided [RCV003414705] Chr1:204618799 [GRCh38]
Chr1:204587927 [GRCh37]
Chr1:1q32.1		 likely benign
NM_201630.2(LRRN2):c.453C>T (p.Asn151=) single nucleotide variant not provided [RCV003414706] Chr1:204619540 [GRCh38]
Chr1:204588668 [GRCh37]
Chr1:1q32.1		 benign
NM_201630.2(LRRN2):c.134C>T (p.Ser45Leu) single nucleotide variant not specified [RCV004408025] Chr1:204619859 [GRCh38]
Chr1:204588987 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1615T>C (p.Tyr539His) single nucleotide variant not specified [RCV004408027] Chr1:204618378 [GRCh38]
Chr1:204587506 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1940C>T (p.Ala647Val) single nucleotide variant not specified [RCV004408028] Chr1:204618053 [GRCh38]
Chr1:204587181 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.218C>T (p.Thr73Ile) single nucleotide variant not specified [RCV004408029] Chr1:204619775 [GRCh38]
Chr1:204588903 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.548G>A (p.Arg183His) single nucleotide variant not specified [RCV004408032] Chr1:204619445 [GRCh38]
Chr1:204588573 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1360G>A (p.Glu454Lys) single nucleotide variant not specified [RCV004408026] Chr1:204618633 [GRCh38]
Chr1:204587761 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.415G>A (p.Gly139Arg) single nucleotide variant not specified [RCV004408030] Chr1:204619578 [GRCh38]
Chr1:204588706 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1882C>A (p.Arg628Ser) single nucleotide variant not specified [RCV004640118] Chr1:204618111 [GRCh38]
Chr1:204587239 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.127C>A (p.Pro43Thr) single nucleotide variant not specified [RCV004640119] Chr1:204619866 [GRCh38]
Chr1:204588994 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_190829412)_(216061974_?)del deletion not provided [RCV004579260] Chr1:190829412..216061974 [GRCh37]
Chr1:1q31.2-41		 pathogenic
NM_201630.2(LRRN2):c.1595G>A (p.Arg532Gln) single nucleotide variant not specified [RCV004640117] Chr1:204618398 [GRCh38]
Chr1:204587526 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.326G>A (p.Arg109Gln) single nucleotide variant not specified [RCV004636274] Chr1:204619667 [GRCh38]
Chr1:204588795 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1895T>C (p.Ile632Thr) single nucleotide variant not specified [RCV004940402] Chr1:204618098 [GRCh38]
Chr1:204587226 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1250C>T (p.Thr417Met) single nucleotide variant not specified [RCV004940404] Chr1:204618743 [GRCh38]
Chr1:204587871 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.113G>A (p.Arg38Gln) single nucleotide variant not specified [RCV004940406] Chr1:204619880 [GRCh38]
Chr1:204589008 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.965G>A (p.Arg322Gln) single nucleotide variant not specified [RCV004940399] Chr1:204619028 [GRCh38]
Chr1:204588156 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1066G>A (p.Glu356Lys) single nucleotide variant not specified [RCV004940410] Chr1:204618927 [GRCh38]
Chr1:204588055 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.833C>T (p.Pro278Leu) single nucleotide variant not specified [RCV004940411] Chr1:204619160 [GRCh38]
Chr1:204588288 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.506G>A (p.Arg169Gln) single nucleotide variant not specified [RCV004940401] Chr1:204619487 [GRCh38]
Chr1:204588615 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1202C>T (p.Pro401Leu) single nucleotide variant not specified [RCV004940408] Chr1:204618791 [GRCh38]
Chr1:204587919 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.422C>G (p.Ala141Gly) single nucleotide variant not specified [RCV004940412] Chr1:204619571 [GRCh38]
Chr1:204588699 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.749C>A (p.Ala250Asp) single nucleotide variant not specified [RCV004940400] Chr1:204619244 [GRCh38]
Chr1:204588372 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1287C>G (p.Phe429Leu) single nucleotide variant not specified [RCV004940403] Chr1:204618706 [GRCh38]
Chr1:204587834 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1883G>A (p.Arg628His) single nucleotide variant not specified [RCV004940405] Chr1:204618110 [GRCh38]
Chr1:204587238 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.175T>C (p.Phe59Leu) single nucleotide variant not specified [RCV004940407] Chr1:204619818 [GRCh38]
Chr1:204588946 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_201630.2(LRRN2):c.1697G>T (p.Gly566Val) single nucleotide variant not specified [RCV004940409] Chr1:204618296 [GRCh38]
Chr1:204587424 [GRCh37]
Chr1:1q32.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2019
Count of miRNA genes:564
Interacting mature miRNAs:643
Transcripts:ENST00000367175, ENST00000367176, ENST00000367177, ENST00000496057
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
597077078GWAS1173152_Hintelligence, self reported educational attainment QTL GWAS1173152 (human)2e-09intelligence, self reported educational attainment1204617919204617920Human
597143319GWAS1239393_Hsmoking initiation QTL GWAS1239393 (human)4e-14smoking initiation1204626464204626465Human
597412058GWAS1508132_Hdiet measurement QTL GWAS1508132 (human)9e-10eating behavior trait (VT:0001431)food intake measurement (CMO:0000772)1204627326204627327Human
597115925GWAS1211999_Hcognitive function measurement QTL GWAS1211999 (human)3e-18cognitive behavior trait (VT:0010450)1204618441204618442Human
596979926GWAS1099445_Htriple-negative breast cancer, luminal A breast carcinoma QTL GWAS1099445 (human)8e-09triple-negative breast cancer, luminal A breast carcinoma1204623046204623047Human
406954567GWAS603543_Hself reported educational attainment QTL GWAS603543 (human)3e-13self reported educational attainment1204617919204617920Human
597029715GWAS1125789_Hself reported educational attainment QTL GWAS1125789 (human)1e-18self reported educational attainment1204618441204618442Human
597053969GWAS1150043_Hhousehold income QTL GWAS1150043 (human)4e-17household income1204617919204617920Human
597154904GWAS1250978_HAlzheimer disease, educational attainment QTL GWAS1250978 (human)2e-11Alzheimer disease, educational attainment1204617919204617920Human
597168599GWAS1264673_Htriple-negative breast cancer, luminal A breast carcinoma QTL GWAS1264673 (human)8e-09triple-negative breast cancer, luminal A breast carcinoma1204623046204623047Human
406955025GWAS604001_Hself reported educational attainment QTL GWAS604001 (human)3e-09self reported educational attainment1204617684204617685Human
407038864GWAS687840_Hself reported educational attainment QTL GWAS687840 (human)5e-08self reported educational attainment1204619973204619974Human
597418703GWAS1514777_Hself reported educational attainment QTL GWAS1514777 (human)2e-08self reported educational attainment1204622109204622110Human
597115585GWAS1211659_Hself reported educational attainment QTL GWAS1211659 (human)2e-33self reported educational attainment1204617919204617920Human
597074433GWAS1170507_Hintelligence QTL GWAS1170507 (human)2e-10intelligence1204617919204617920Human
597108045GWAS1204119_Hmathematical ability QTL GWAS1204119 (human)1e-17mathematical ability1204618441204618442Human
597277636GWAS1373710_Hdiet measurement QTL GWAS1373710 (human)1e-11eating behavior trait (VT:0001431)food intake measurement (CMO:0000772)1204618441204618442Human
597318151GWAS1414225_Hsmoking initiation QTL GWAS1414225 (human)6e-14smoking initiation1204645347204645348Human
597104585GWAS1200659_Hschizophrenia, intelligence, self reported educational attainment QTL GWAS1200659 (human)1e-16schizophrenia, intelligence, self reported educational attainment1204618441204618442Human
597053385GWAS1149459_Hhousehold income QTL GWAS1149459 (human)6e-09household income1204639066204639067Human
597054390GWAS1150464_Hhousehold income QTL GWAS1150464 (human)1e-08household income1204617919204617920Human
597061174GWAS1157248_HFEV/FVC ratio QTL GWAS1157248 (human)3e-08FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)1204647262204647263Human
597275891GWAS1371965_Heducational attainment QTL GWAS1371965 (human)7e-58educational attainment1204618441204618442Human
597115965GWAS1212039_Hmathematical ability QTL GWAS1212039 (human)4e-12mathematical ability1204618441204618442Human
597147133GWAS1243207_HCOVID-19 QTL GWAS1243207 (human)2e-10COVID-191204656145204656146Human
597041787GWAS1137861_Hrenin measurement QTL GWAS1137861 (human)4e-17renin activity (VT:0005581)1204641544204641545Human
597340981GWAS1437055_Hcolor vision disorder QTL GWAS1437055 (human)0.000001color vision disorder1204654276204654277Human
597227752GWAS1323826_Hself reported educational attainment QTL GWAS1323826 (human)4e-31self reported educational attainment1204617919204617920Human
597183593GWAS1279667_Hsmoking cessation QTL GWAS1279667 (human)5e-18smoking cessation1204619973204619974Human
597094375GWAS1190449_Hschizophrenia QTL GWAS1190449 (human)0.000005schizophrenia1204630167204630168Human
597183594GWAS1279668_Hsmoking cessation QTL GWAS1279668 (human)3e-18smoking cessation1204624568204624569Human
597045220GWAS1141294_Hcutaneous melanoma, hair color QTL GWAS1141294 (human)1e-08cutaneous melanoma, hair color1204662937204662938Human
597266476GWAS1362550_Hschizophrenia QTL GWAS1362550 (human)0.000002schizophrenia1204634733204634734Human
597390881GWAS1486955_Hdiet measurement QTL GWAS1486955 (human)2e-08eating behavior trait (VT:0001431)food intake measurement (CMO:0000772)1204627326204627327Human
597240674GWAS1336748_Heducational attainment QTL GWAS1336748 (human)2e-18educational attainment1204617919204617920Human
597213156GWAS1309230_Hmathematical ability QTL GWAS1309230 (human)2e-27mathematical ability1204617919204617920Human
597333222GWAS1429296_Hsmoking cessation QTL GWAS1429296 (human)4e-18smoking cessation1204624568204624569Human
597508064GWAS1604138_Hsmoking initiation QTL GWAS1604138 (human)5e-14smoking initiation1204627326204627327Human
597026346GWAS1122420_Hsocial interaction measurement QTL GWAS1122420 (human)3e-08social interaction measurementvoluntary social interaction measurement (CMO:0002676)1204619012204619013Human


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2405 2788 2241 4921 1713 2324 3 617 1831 458 2230 7139 6346 37 3722 1 833 1730 1597 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005244827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF030435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  T08293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000367175   ⟹   ENSP00000356143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,617,170 - 204,622,205 (-)Ensembl
Ensembl Acc Id: ENST00000367176   ⟹   ENSP00000356144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,617,170 - 204,685,353 (-)Ensembl
Ensembl Acc Id: ENST00000367177   ⟹   ENSP00000356145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,617,170 - 204,685,738 (-)Ensembl
Ensembl Acc Id: ENST00000496057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1204,619,900 - 204,685,366 (-)Ensembl
RefSeq Acc Id: NM_006338   ⟹   NP_006329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,617,170 - 204,685,738 (-)NCBI
GRCh371204,586,298 - 204,654,597 (-)NCBI
Build 361202,852,924 - 202,921,104 (-)NCBI Archive
Celera1177,721,461 - 177,789,729 (-)RGD
HuRef1175,751,543 - 175,819,947 (-)ENTREZGENE
CHM1_11206,009,687 - 206,077,873 (-)NCBI
T2T-CHM13v2.01203,881,574 - 203,950,138 (-)NCBI
Sequence:
RefSeq Acc Id: NM_201630   ⟹   NP_963924
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,617,170 - 204,685,738 (-)NCBI
GRCh371204,586,298 - 204,654,597 (-)NCBI
Build 361202,852,924 - 202,921,220 (-)NCBI Archive
Celera1177,721,461 - 177,789,729 (-)RGD
HuRef1175,751,543 - 175,819,947 (-)ENTREZGENE
CHM1_11206,009,687 - 206,077,989 (-)NCBI
T2T-CHM13v2.01203,881,574 - 203,950,138 (-)NCBI
Sequence:
RefSeq Acc Id: NP_963924   ⟸   NM_201630
- Peptide Label: precursor
- UniProtKB: Q6UXM0 (UniProtKB/Swiss-Prot),   Q5T0Y0 (UniProtKB/Swiss-Prot),   B2R624 (UniProtKB/Swiss-Prot),   Q8N182 (UniProtKB/Swiss-Prot),   O75325 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006329   ⟸   NM_006338
- Peptide Label: precursor
- UniProtKB: Q6UXM0 (UniProtKB/Swiss-Prot),   Q5T0Y0 (UniProtKB/Swiss-Prot),   B2R624 (UniProtKB/Swiss-Prot),   Q8N182 (UniProtKB/Swiss-Prot),   O75325 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000356143   ⟸   ENST00000367175
Ensembl Acc Id: ENSP00000356145   ⟸   ENST00000367177
Ensembl Acc Id: ENSP00000356144   ⟸   ENST00000367176
Protein Domains
Ig-like C2-type   LRRCT   LRRNT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75325-F1-model_v2 AlphaFold O75325 1-713 view protein structure

Promoters
RGD ID:6858696
Promoter ID:EPDNEW_H2513
Type:multiple initiation site
Name:LRRN2_2
Description:leucine rich repeat neuronal 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2514  EPDNEW_H2515  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,671,641 - 204,671,701EPDNEW
RGD ID:6858698
Promoter ID:EPDNEW_H2514
Type:initiation region
Name:LRRN2_1
Description:leucine rich repeat neuronal 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2513  EPDNEW_H2515  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,685,430 - 204,685,490EPDNEW
RGD ID:6858700
Promoter ID:EPDNEW_H2515
Type:initiation region
Name:LRRN2_3
Description:leucine rich repeat neuronal 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2513  EPDNEW_H2514  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381204,685,733 - 204,685,793EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16914 AgrOrtholog
COSMIC LRRN2 COSMIC
Ensembl Genes ENSG00000170382 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000367175.1 UniProtKB/Swiss-Prot
  ENST00000367176 ENTREZGENE
  ENST00000367176.7 UniProtKB/Swiss-Prot
  ENST00000367177 ENTREZGENE
  ENST00000367177.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
  3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000170382 GTEx
HGNC ID HGNC:16914 ENTREZGENE
Human Proteome Map LRRN2 Human Proteome Map
InterPro Cys-rich_flank_reg_C UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_I-set UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  Leu-rich_rpt UniProtKB/Swiss-Prot
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot
  LRR_TM_domain-containing UniProtKB/Swiss-Prot
KEGG Report hsa:10446 UniProtKB/Swiss-Prot
NCBI Gene 10446 ENTREZGENE
OMIM 605492 OMIM
PANTHER ANTIGEN BSP, PUTATIVE-RELATED UniProtKB/Swiss-Prot
  CHAOPTIN-RELATED UniProtKB/Swiss-Prot
Pfam I-set UniProtKB/Swiss-Prot
  LRR_8 UniProtKB/Swiss-Prot
PharmGKB PA162394661 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
  LRR UniProtKB/Swiss-Prot
SMART IGc2 UniProtKB/Swiss-Prot
  LRR_SD22 UniProtKB/Swiss-Prot
  LRR_TYP UniProtKB/Swiss-Prot
  LRRCT UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot
  SSF48726 UniProtKB/Swiss-Prot
UniProt B2R624 ENTREZGENE
  LRRN2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5T0Y0 ENTREZGENE
  Q6UXM0 ENTREZGENE
  Q8N182 ENTREZGENE
UniProt Secondary B2R624 UniProtKB/Swiss-Prot
  Q5T0Y0 UniProtKB/Swiss-Prot
  Q6UXM0 UniProtKB/Swiss-Prot
  Q8N182 UniProtKB/Swiss-Prot