LRRC43 (leucine rich repeat containing 43) - Rat Genome Database

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Gene: LRRC43 (leucine rich repeat containing 43) Homo sapiens
Analyze
Symbol: LRRC43
Name: leucine rich repeat containing 43
RGD ID: 1602639
HGNC Page HGNC:28562
Description: Predicted to enable dynein complex binding activity. Predicted to be involved in axoneme assembly. Predicted to be active in axoneme; INTERACTS WITH aflatoxin B1; all-trans-retinoic acid; aristolochic acid A.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: leucine-rich repeat-containing protein 43; MGC35140
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812122,167,719 - 122,203,471 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12122,167,738 - 122,203,471 (+)EnsemblGRCh38hg38GRCh38
GRCh3712122,652,266 - 122,688,018 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612121,218,219 - 121,253,971 (+)NCBINCBI36Build 36hg18NCBI36
Celera12122,241,514 - 122,277,364 (+)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12119,613,192 - 119,648,954 (+)NCBIHuRef
CHM1_112122,620,550 - 122,656,311 (+)NCBICHM1_1
T2T-CHM13v2.012122,163,508 - 122,199,259 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)
genetic disease  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
axoneme  (IBA)

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
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:12477932   PMID:16344560   PMID:21873635  


Genomics

Comparative Map Data
LRRC43
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812122,167,719 - 122,203,471 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12122,167,738 - 122,203,471 (+)EnsemblGRCh38hg38GRCh38
GRCh3712122,652,266 - 122,688,018 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612121,218,219 - 121,253,971 (+)NCBINCBI36Build 36hg18NCBI36
Celera12122,241,514 - 122,277,364 (+)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12119,613,192 - 119,648,954 (+)NCBIHuRef
CHM1_112122,620,550 - 122,656,311 (+)NCBICHM1_1
T2T-CHM13v2.012122,163,508 - 122,199,259 (+)NCBIT2T-CHM13v2.0
Lrrc43
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395123,627,349 - 123,646,268 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5123,627,368 - 123,646,268 (+)EnsemblGRCm39 Ensembl
GRCm385123,489,287 - 123,508,205 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5123,489,305 - 123,508,205 (+)EnsemblGRCm38mm10GRCm38
MGSCv375123,939,334 - 123,958,213 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365123,749,943 - 123,768,822 (+)NCBIMGSCv36mm8
Celera5120,576,459 - 120,595,078 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map563.01NCBI
Lrrc43
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81238,735,033 - 38,753,143 (-)NCBIGRCr8
mRatBN7.21233,074,149 - 33,092,257 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1233,074,150 - 33,095,082 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1234,252,925 - 34,271,470 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01234,864,276 - 34,882,816 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01233,916,165 - 33,934,714 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01238,507,102 - 38,524,715 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1238,507,044 - 38,525,432 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01240,388,950 - 40,405,446 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41234,213,335 - 34,231,237 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1234,760,791 - 34,776,294 (-)NCBICelera
Cytogenetic Map12q16NCBI
Lrrc43
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554826,366,451 - 6,375,697 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554826,366,437 - 6,375,697 (-)NCBIChiLan1.0ChiLan1.0
LRRC43
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210130,270,990 - 130,293,816 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112130,267,365 - 130,304,170 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012119,784,100 - 119,804,430 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112123,151,751 - 123,172,218 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12123,151,751 - 123,172,218 (+)Ensemblpanpan1.1panPan2
LRRC43
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1267,148,888 - 7,165,447 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl267,148,915 - 7,163,967 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha267,309,095 - 7,325,529 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0267,400,409 - 7,417,131 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl267,400,436 - 7,417,974 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1267,332,546 - 7,349,287 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0267,423,423 - 7,440,118 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0267,379,206 - 7,395,944 (-)NCBIUU_Cfam_GSD_1.0
Lrrc43
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118157,191,330 - 157,207,765 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365582,272,851 - 2,288,064 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365582,272,664 - 2,288,064 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRRC43
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1430,524,232 - 30,546,816 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11430,520,075 - 30,546,691 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21432,087,488 - 32,091,689 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LRRC43
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111117,534,716 - 117,560,317 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11117,534,928 - 117,560,137 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037127,775,794 - 127,796,236 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lrrc43
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474722,425,491 - 22,438,800 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474722,405,560 - 22,439,112 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LRRC43
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1 copy number loss See cases [RCV000051342] Chr12:120504068..122459718 [GRCh38]
Chr12:120941871..122944265 [GRCh37]
Chr12:119426254..121510218 [NCBI36]
Chr12:12q24.31		 pathogenic
GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1 copy number loss See cases [RCV000051343] Chr12:121325874..122505529 [GRCh38]
Chr12:121956483..122990076 [GRCh37]
Chr12:120248060..121556029 [NCBI36]
Chr12:12q24.31		 pathogenic
GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1 copy number loss See cases [RCV000051344] Chr12:121471000..122459718 [GRCh38]
Chr12:121956483..122944265 [GRCh37]
Chr12:120393186..121510218 [NCBI36]
Chr12:12q24.31		 pathogenic
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 copy number gain See cases [RCV000051981] Chr12:119286893..122638552 [GRCh38]
Chr12:119724698..123123099 [GRCh37]
Chr12:118209081..121689052 [NCBI36]
Chr12:12q24.23-24.31		 uncertain significance
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
NM_001014336.1(IL31):c.195C>T (p.Ser65=) single nucleotide variant Malignant melanoma [RCV000069862] Chr12:122172712 [GRCh38]
Chr12:122657259 [GRCh37]
Chr12:121223212 [NCBI36]
Chr12:12q24.31		 not provided
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 copy number gain See cases [RCV000137651] Chr12:120697672..133202490 [GRCh38]
Chr12:121135475..133779076 [GRCh37]
Chr12:119619858..132289149 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12q24.31(chr12:121802243-122229509)x3 copy number gain See cases [RCV000139275] Chr12:121802243..122229509 [GRCh38]
Chr12:122240149..122714056 [GRCh37]
Chr12:120724532..121280009 [NCBI36]
Chr12:12q24.31		 uncertain significance
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 12q24.31-24.32(chr12:120718786-127500215)x1 copy number loss See cases [RCV000142454] Chr12:120718786..127500215 [GRCh38]
Chr12:121156589..127984760 [GRCh37]
Chr12:119640972..126550713 [NCBI36]
Chr12:12q24.31-24.32		 pathogenic
GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1 copy number loss See cases [RCV000143250] Chr12:121917758..127802717 [GRCh38]
Chr12:122355664..128287262 [GRCh37]
Chr12:120840047..126853215 [NCBI36]
Chr12:12q24.31-24.32		 pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33		 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 12q24.31(chr12:122676019-122710016)x1 copy number loss See cases [RCV000239820] Chr12:122676019..122710016 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:122614468-123019270)x3 copy number gain See cases [RCV000446468] Chr12:122614468..123019270 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:121882818-122666131)x1 copy number loss See cases [RCV000446701] Chr12:121882818..122666131 [GRCh37]
Chr12:12q24.31		 uncertain significance
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-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_001098519.2(LRRC43):c.109A>C (p.Lys37Gln) single nucleotide variant Inborn genetic diseases [RCV003254620] Chr12:122183253 [GRCh38]
Chr12:122667800 [GRCh37]
Chr12:12q24.31		 likely benign
NM_001098519.2(LRRC43):c.5A>T (p.Glu2Val) single nucleotide variant Inborn genetic diseases [RCV003250301] Chr12:122183149 [GRCh38]
Chr12:122667696 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33		 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
NM_001098519.2(LRRC43):c.1947G>T (p.Glu649Asp) single nucleotide variant Inborn genetic diseases [RCV003266872] Chr12:122203418 [GRCh38]
Chr12:122687965 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:122681331-122730394)x1 copy number loss not provided [RCV000849154] Chr12:122681331..122730394 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:122351591-122848069)x1 copy number loss not provided [RCV000848549] Chr12:122351591..122848069 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)x1 copy number loss not provided [RCV000848395] Chr12:122169403..129084163 [GRCh37]
Chr12:12q24.31-24.32		 pathogenic
GRCh37/hg19 12q24.31(chr12:122598025-122995374)x3 copy number gain not provided [RCV000846735] Chr12:122598025..122995374 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:121887337-123386068)x3 copy number gain not provided [RCV001795860] Chr12:121887337..123386068 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 copy number gain Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] Chr12:117461902..133841395 [GRCh37]
Chr12:12q24.22-24.33		 likely pathogenic
NM_001098519.2(LRRC43):c.181C>T (p.Arg61Ter) single nucleotide variant not provided [RCV001806968] Chr12:122184549 [GRCh38]
Chr12:122669096 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.229G>T (p.Gly77Ter) single nucleotide variant not provided [RCV001806969] Chr12:122184597 [GRCh38]
Chr12:122669144 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:121882818-122666131) copy number loss not specified [RCV002053029] Chr12:121882818..122666131 [GRCh37]
Chr12:12q24.31		 uncertain significance
NC_000012.11:g.(?_122277634)_(124242579_?)del deletion not provided [RCV003111519] Chr12:122277634..124242579 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001014336.2(IL31):c.293T>C (p.Leu98Pro) single nucleotide variant Inborn genetic diseases [RCV003305211] Chr12:122172614 [GRCh38]
Chr12:122657161 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001014336.2(IL31):c.355G>A (p.Ala119Thr) single nucleotide variant Inborn genetic diseases [RCV002990638] Chr12:122172552 [GRCh38]
Chr12:122657099 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.1319G>A (p.Arg440His) single nucleotide variant Inborn genetic diseases [RCV002727564] Chr12:122192974 [GRCh38]
Chr12:122677521 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.1426A>G (p.Arg476Gly) single nucleotide variant Inborn genetic diseases [RCV002817569] Chr12:122200265 [GRCh38]
Chr12:122684812 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.1072G>A (p.Ala358Thr) single nucleotide variant Inborn genetic diseases [RCV002682150] Chr12:122191550 [GRCh38]
Chr12:122676097 [GRCh37]
Chr12:12q24.31		 likely benign
NM_001014336.2(IL31):c.319A>G (p.Ile107Val) single nucleotide variant Inborn genetic diseases [RCV002901032] Chr12:122172588 [GRCh38]
Chr12:122657135 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.835G>A (p.Val279Met) single nucleotide variant Inborn genetic diseases [RCV002848938] Chr12:122190302 [GRCh38]
Chr12:122674849 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.1774C>T (p.Arg592Cys) single nucleotide variant Inborn genetic diseases [RCV002783643] Chr12:122200899 [GRCh38]
Chr12:122685446 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.1221G>C (p.Glu407Asp) single nucleotide variant Inborn genetic diseases [RCV002703932] Chr12:122192876 [GRCh38]
Chr12:122677423 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.166C>A (p.Leu56Ile) single nucleotide variant Inborn genetic diseases [RCV002874814] Chr12:122184534 [GRCh38]
Chr12:122669081 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001014336.2(IL31):c.101C>G (p.Pro34Arg) single nucleotide variant Inborn genetic diseases [RCV002874167] Chr12:122173908 [GRCh38]
Chr12:122658455 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001014336.2(IL31):c.376G>A (p.Val126Met) single nucleotide variant Inborn genetic diseases [RCV002767524] Chr12:122172531 [GRCh38]
Chr12:122657078 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.347C>T (p.Pro116Leu) single nucleotide variant Inborn genetic diseases [RCV002850707] Chr12:122184715 [GRCh38]
Chr12:122669262 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.395G>C (p.Arg132Pro) single nucleotide variant Inborn genetic diseases [RCV002698449] Chr12:122184763 [GRCh38]
Chr12:122669310 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.64C>T (p.Pro22Ser) single nucleotide variant Inborn genetic diseases [RCV002668872] Chr12:122183208 [GRCh38]
Chr12:122667755 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001014336.2(IL31):c.297C>A (p.Asp99Glu) single nucleotide variant Inborn genetic diseases [RCV002747869] Chr12:122172610 [GRCh38]
Chr12:122657157 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.1771G>T (p.Val591Phe) single nucleotide variant Inborn genetic diseases [RCV002812168] Chr12:122200896 [GRCh38]
Chr12:122685443 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.1156G>A (p.Val386Ile) single nucleotide variant Inborn genetic diseases [RCV002679607] Chr12:122192811 [GRCh38]
Chr12:122677358 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.1894C>T (p.Pro632Ser) single nucleotide variant Inborn genetic diseases [RCV002679792] Chr12:122203365 [GRCh38]
Chr12:122687912 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.1183A>G (p.Thr395Ala) single nucleotide variant Inborn genetic diseases [RCV003175157] Chr12:122192838 [GRCh38]
Chr12:122677385 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.1765G>A (p.Gly589Ser) single nucleotide variant Inborn genetic diseases [RCV003191176] Chr12:122200890 [GRCh38]
Chr12:122685437 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:121341598-124103434)x3 copy number gain See cases [RCV003329531] Chr12:121341598..124103434 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001014336.2(IL31):c.202T>C (p.Tyr68His) single nucleotide variant Inborn genetic diseases [RCV003348464] Chr12:122172705 [GRCh38]
Chr12:122657252 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.1475C>A (p.Thr492Asn) single nucleotide variant Inborn genetic diseases [RCV003360316] Chr12:122200314 [GRCh38]
Chr12:122684861 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.796T>G (p.Tyr266Asp) single nucleotide variant Inborn genetic diseases [RCV003344853] Chr12:122190263 [GRCh38]
Chr12:122674810 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.25T>A (p.Ser9Thr) single nucleotide variant Inborn genetic diseases [RCV003379616] Chr12:122183169 [GRCh38]
Chr12:122667716 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.685C>G (p.Leu229Val) single nucleotide variant Inborn genetic diseases [RCV003351721] Chr12:122190152 [GRCh38]
Chr12:122674699 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001098519.2(LRRC43):c.1913A>G (p.Gln638Arg) single nucleotide variant Inborn genetic diseases [RCV003361813] Chr12:122203384 [GRCh38]
Chr12:122687931 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3 copy number gain not provided [RCV003484881] Chr12:121551496..133777902 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3 copy number gain not provided [RCV003484880] Chr12:120880079..133777902 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1941
Count of miRNA genes:801
Interacting mature miRNAs:955
Transcripts:ENST00000339777, ENST00000425921, ENST00000537113, ENST00000537729, ENST00000537733, ENST00000538800, ENST00000541498
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH123813  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712122,651,740 - 122,652,048UniSTSGRCh37
Build 3612121,217,693 - 121,218,001RGDNCBI36
Celera12122,240,988 - 122,241,296RGD
Cytogenetic Map12q24.31UniSTS
HuRef12119,612,666 - 119,612,974UniSTS
TNG Radiation Hybrid Map1260431.0UniSTS


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 pharyngeal arch
High
Medium 9 1 29 8 335 62
Low 702 494 1104 140 506 44 662 326 2894 294 663 1256 100 350 257 1
Below cutoff 1696 2389 543 419 1078 359 3539 1784 752 97 418 251 70 1 839 2402 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001098519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC048338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA951767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000339777   ⟹   ENSP00000344233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12122,183,123 - 122,203,471 (+)Ensembl
RefSeq Acc Id: ENST00000537113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12122,183,002 - 122,187,926 (+)Ensembl
RefSeq Acc Id: ENST00000537729   ⟹   ENSP00000438751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12122,167,738 - 122,191,474 (+)Ensembl
RefSeq Acc Id: ENST00000537733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12122,200,592 - 122,202,423 (+)Ensembl
RefSeq Acc Id: ENST00000538800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12122,184,519 - 122,187,477 (+)Ensembl
RefSeq Acc Id: ENST00000541498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12122,183,126 - 122,200,778 (+)Ensembl
RefSeq Acc Id: NM_001098519   ⟹   NP_001091989
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,183,123 - 122,203,471 (+)NCBI
GRCh3712122,652,266 - 122,688,018 (+)RGD
Build 3612121,233,620 - 121,253,971 (+)NCBI Archive
Celera12122,241,514 - 122,277,364 (+)RGD
HuRef12119,613,192 - 119,648,954 (+)ENTREZGENE
CHM1_112122,635,956 - 122,656,311 (+)NCBI
T2T-CHM13v2.012122,178,911 - 122,199,259 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152759   ⟹   NP_689972
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,167,719 - 122,203,471 (+)NCBI
GRCh3712122,652,266 - 122,688,018 (+)RGD
Build 3612121,218,219 - 121,253,971 (+)NCBI Archive
Celera12122,241,514 - 122,277,364 (+)RGD
HuRef12119,613,192 - 119,648,954 (+)ENTREZGENE
CHM1_112122,620,550 - 122,656,311 (+)NCBI
T2T-CHM13v2.012122,163,508 - 122,199,259 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019124   ⟹   XP_016874613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,183,123 - 122,203,471 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019125   ⟹   XP_016874614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,183,123 - 122,190,059 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428658   ⟹   XP_047284614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,183,123 - 122,201,930 (+)NCBI
RefSeq Acc Id: XM_047428659   ⟹   XP_047284615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,183,123 - 122,201,930 (+)NCBI
RefSeq Acc Id: XM_047428660   ⟹   XP_047284616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,183,123 - 122,201,930 (+)NCBI
RefSeq Acc Id: XM_047428661   ⟹   XP_047284617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,183,123 - 122,201,930 (+)NCBI
RefSeq Acc Id: XM_047428662   ⟹   XP_047284618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,183,123 - 122,203,158 (+)NCBI
RefSeq Acc Id: XM_047428663   ⟹   XP_047284619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,183,123 - 122,203,158 (+)NCBI
RefSeq Acc Id: XM_047428664   ⟹   XP_047284620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,186,194 - 122,201,930 (+)NCBI
RefSeq Acc Id: XM_047428665   ⟹   XP_047284621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812122,187,754 - 122,201,930 (+)NCBI
RefSeq Acc Id: XM_054371658   ⟹   XP_054227633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012122,178,911 - 122,197,718 (+)NCBI
RefSeq Acc Id: XM_054371659   ⟹   XP_054227634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012122,178,911 - 122,197,718 (+)NCBI
RefSeq Acc Id: XM_054371660   ⟹   XP_054227635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012122,178,911 - 122,197,718 (+)NCBI
RefSeq Acc Id: XM_054371661   ⟹   XP_054227636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012122,178,911 - 122,199,259 (+)NCBI
RefSeq Acc Id: XM_054371662   ⟹   XP_054227637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012122,178,911 - 122,197,718 (+)NCBI
RefSeq Acc Id: XM_054371663   ⟹   XP_054227638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012122,178,911 - 122,199,087 (+)NCBI
RefSeq Acc Id: XM_054371664   ⟹   XP_054227639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012122,178,911 - 122,199,087 (+)NCBI
RefSeq Acc Id: XM_054371665   ⟹   XP_054227640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012122,181,982 - 122,197,718 (+)NCBI
RefSeq Acc Id: XM_054371666   ⟹   XP_054227641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012122,183,542 - 122,197,718 (+)NCBI
RefSeq Acc Id: XM_054371667   ⟹   XP_054227642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012122,178,911 - 122,185,847 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001091989 (Get FASTA)   NCBI Sequence Viewer  
  NP_689972 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874613 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874614 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284614 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284615 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284616 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284617 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284618 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284619 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284620 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284621 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227633 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227634 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227635 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227636 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227637 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227638 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227639 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227640 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227641 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227642 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH29245 (Get FASTA)   NCBI Sequence Viewer  
  BAC85772 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000344233
  ENSP00000344233.4
  ENSP00000438751.1
GenBank Protein Q8N309 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_689972   ⟸   NM_152759
- Peptide Label: isoform 2
- UniProtKB: Q8N309 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001091989   ⟸   NM_001098519
- Peptide Label: isoform 1
- UniProtKB: Q6ZVT9 (UniProtKB/Swiss-Prot),   Q8N309 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874613   ⟸   XM_017019124
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016874614   ⟸   XM_017019125
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: ENSP00000344233   ⟸   ENST00000339777
RefSeq Acc Id: ENSP00000438751   ⟸   ENST00000537729
RefSeq Acc Id: XP_047284618   ⟸   XM_047428662
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047284619   ⟸   XM_047428663
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047284615   ⟸   XM_047428659
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047284614   ⟸   XM_047428658
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047284616   ⟸   XM_047428660
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047284617   ⟸   XM_047428661
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047284620   ⟸   XM_047428664
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047284621   ⟸   XM_047428665
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054227636   ⟸   XM_054371661
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227638   ⟸   XM_054371663
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054227639   ⟸   XM_054371664
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054227634   ⟸   XM_054371659
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227633   ⟸   XM_054371658
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227635   ⟸   XM_054371660
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054227637   ⟸   XM_054371662
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054227642   ⟸   XM_054371667
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054227640   ⟸   XM_054371665
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054227641   ⟸   XM_054371666
- Peptide Label: isoform X9
Protein Domains
LRRCT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N309-F1-model_v2 AlphaFold Q8N309 1-656 view protein structure

Promoters
RGD ID:6790229
Promoter ID:HG_KWN:16895
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NM_152759,   UC009ZXL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612121,217,236 - 121,217,736 (+)MPROMDB
RGD ID:6790230
Promoter ID:HG_KWN:16897
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_001098519
Position:
Human AssemblyChrPosition (strand)Source
Build 3612121,233,516 - 121,234,016 (+)MPROMDB
RGD ID:6789958
Promoter ID:HG_KWN:16898
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000289014,   ENST00000339777
Position:
Human AssemblyChrPosition (strand)Source
Build 3612121,235,016 - 121,235,516 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28562 AgrOrtholog
COSMIC LRRC43 COSMIC
Ensembl Genes ENSG00000158113 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000339777 ENTREZGENE
  ENST00000339777.5 UniProtKB/Swiss-Prot
  ENST00000537729.5 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000158113 GTEx
HGNC ID HGNC:28562 ENTREZGENE
Human Proteome Map LRRC43 Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:254050 UniProtKB/Swiss-Prot
NCBI Gene 254050 ENTREZGENE
PANTHER LEUCINE-RICH REPEAT-CONTAINING PROTEIN 43 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN PHOSPHATASE 1 REGULATORY SUBUNIT SDS22-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_8 UniProtKB/Swiss-Prot
PharmGKB PA142671531 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F5H0N3_HUMAN UniProtKB/TrEMBL
  LRC43_HUMAN UniProtKB/Swiss-Prot
  Q6ZVT9 ENTREZGENE
  Q8N309 ENTREZGENE
UniProt Secondary Q6ZVT9 UniProtKB/Swiss-Prot