TOLLIP (toll interacting protein) - Rat Genome Database

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Gene: TOLLIP (toll interacting protein) Homo sapiens
Analyze
Symbol: TOLLIP
Name: toll interacting protein
RGD ID: 1312257
HGNC Page HGNC:16476
Description: Enables Toll-like receptor binding activity; kinase binding activity; and molecular adaptor activity. Involved in several processes, including interleukin-1-mediated signaling pathway; phosphorylation; and protein localization to endosome. Located in extracellular exosome. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adapter protein; FLJ33531; IL-1RAcPIP; LOC105376512; toll-interacting protein; uncharacterized LOC105376512
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
GRCh38111,274,371 - 1,309,632 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,274,371 - 1,309,654 (-)EnsemblGRCh38hg38GRCh38
GRCh37111,295,601 - 1,330,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,252,177 - 1,287,415 (-)NCBINCBI36Build 36hg18NCBI36
Build 34111,252,176 - 1,287,415NCBI
Celera111,332,006 - 1,366,839 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef111,087,157 - 1,122,196 (-)NCBIHuRef
CHM1_1111,294,507 - 1,328,900 (-)NCBICHM1_1
T2T-CHM13v2.0111,345,549 - 1,381,261 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP,ISO)
cadmium selenide  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
ceric oxide  (EXP)
chloroprene  (ISO)
clobetasol  (ISO)
corn oil  (ISO)
decabromodiphenyl ether  (EXP)
dextran sulfate  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
erlotinib hydrochloride  (EXP)
ethanol  (ISO)
ferroheme b  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
heme b  (ISO)
indoles  (ISO)
ivermectin  (EXP)
mesalamine  (ISO)
neoechinulin A  (ISO)
ozone  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
propiconazole  (ISO)
quercetin  (ISO)
Rhynchophylline  (ISO)
rotenone  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (ISO)
sunitinib  (EXP)
testosterone  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP)
TMC-120A  (ISO)
trimethyltin  (ISO)
triptonide  (ISO)
vinclozolin  (ISO)
zinc protoporphyrin  (ISO)
zoledronic acid  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. TLR-4, IL-1R and TNF-R signaling to NF-kappaB: variations on a common theme. Verstrepen L, etal., Cell Mol Life Sci. 2008 Oct;65(19):2964-78.
Additional References at PubMed
PMID:1085432   PMID:8837778   PMID:9426216   PMID:10854325   PMID:11076863   PMID:11230166   PMID:11397809   PMID:11441107   PMID:11751856   PMID:12477932   PMID:12628920   PMID:14563850  
PMID:14702039   PMID:15047686   PMID:15231747   PMID:15388348   PMID:15489334   PMID:15489336   PMID:16024789   PMID:16107720   PMID:16169070   PMID:16189514   PMID:16344560   PMID:16381901  
PMID:16412388   PMID:16713569   PMID:17113392   PMID:17276401   PMID:17362526   PMID:18985539   PMID:18987746   PMID:19056867   PMID:19060904   PMID:19285159   PMID:19322201   PMID:19423540  
PMID:19444506   PMID:19447967   PMID:19716405   PMID:19851296   PMID:20198315   PMID:20237496   PMID:20406964   PMID:20438785   PMID:20936779   PMID:21048031   PMID:21219635   PMID:21291504  
PMID:21294713   PMID:21492153   PMID:21516116   PMID:21867680   PMID:21873635   PMID:21903422   PMID:21988832   PMID:22582869   PMID:22778396   PMID:22863883   PMID:22939629   PMID:23027871  
PMID:23244239   PMID:23314748   PMID:23376485   PMID:23533145   PMID:23880770   PMID:24285748   PMID:24294608   PMID:24429156   PMID:24600555   PMID:25042851   PMID:25152369   PMID:25275363  
PMID:25416956   PMID:25765712   PMID:25910212   PMID:25915421   PMID:26011492   PMID:26107286   PMID:26110841   PMID:26269592   PMID:26320582   PMID:26331942   PMID:26462859   PMID:26610735  
PMID:26638075   PMID:26663441   PMID:26673132   PMID:26673895   PMID:26899482   PMID:27002100   PMID:27107014   PMID:27181351   PMID:27253772   PMID:27368102   PMID:27513438   PMID:27578003  
PMID:27684187   PMID:27703259   PMID:28190767   PMID:28463648   PMID:28736863   PMID:29467281   PMID:29474632   PMID:29509190   PMID:29791485   PMID:29887521   PMID:29924447   PMID:30425250  
PMID:30635297   PMID:30773093   PMID:30928973   PMID:31073040   PMID:31077413   PMID:31263572   PMID:31515488   PMID:31527615   PMID:32296183   PMID:32311122   PMID:32648572   PMID:32814053  
PMID:32814769   PMID:32989298   PMID:33060197   PMID:33128579   PMID:33233920   PMID:33277362   PMID:33280498   PMID:33545068   PMID:33639995   PMID:33665565   PMID:33729478   PMID:33877723  
PMID:33961781   PMID:34376770   PMID:34419427   PMID:34709727   PMID:34732716   PMID:35164650   PMID:35271311   PMID:35803695   PMID:35914814   PMID:35944360   PMID:36057605   PMID:36114006  
PMID:36126167   PMID:36215168   PMID:36499030   PMID:36610398   PMID:36692217   PMID:37644370   PMID:38124753  


Genomics

Comparative Map Data
TOLLIP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,274,371 - 1,309,632 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,274,371 - 1,309,654 (-)EnsemblGRCh38hg38GRCh38
GRCh37111,295,601 - 1,330,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,252,177 - 1,287,415 (-)NCBINCBI36Build 36hg18NCBI36
Build 34111,252,176 - 1,287,415NCBI
Celera111,332,006 - 1,366,839 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef111,087,157 - 1,122,196 (-)NCBIHuRef
CHM1_1111,294,507 - 1,328,900 (-)NCBICHM1_1
T2T-CHM13v2.0111,345,549 - 1,381,261 (-)NCBIT2T-CHM13v2.0
Tollip
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397141,435,317 - 141,456,198 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7141,428,550 - 141,472,244 (-)EnsemblGRCm39 Ensembl
GRCm387141,881,580 - 141,902,461 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7141,874,813 - 141,918,507 (-)EnsemblGRCm38mm10GRCm38
MGSCv377149,067,490 - 149,088,311 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367141,690,975 - 141,711,796 (-)NCBIMGSCv36mm8
Celera7141,635,280 - 141,656,101 (-)NCBICelera
Cytogenetic Map7F5NCBI
cM Map787.34NCBI
Tollip
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81206,391,120 - 206,413,809 (-)NCBIGRCr8
mRatBN7.21196,961,585 - 196,984,252 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1196,950,771 - 196,983,625 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1205,305,293 - 205,326,118 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01212,423,637 - 212,444,459 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01205,097,793 - 205,118,619 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01214,823,993 - 214,844,861 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1214,823,978 - 214,844,858 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01221,737,397 - 221,758,265 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41202,008,799 - 202,029,669 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11202,170,336 - 202,189,385 (-)NCBI
Celera1194,590,002 - 194,610,866 (-)NCBICelera
Cytogenetic Map1q41NCBI
Tollip
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547610,987,223 - 11,010,808 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547610,987,223 - 11,009,134 (+)NCBIChiLan1.0ChiLan1.0
TOLLIP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v293,691,091 - 3,727,594 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1112,903,417 - 2,940,145 (-)NCBINHGRI_mPanPan1
TOLLIP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11845,559,385 - 45,578,467 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1845,560,681 - 45,578,449 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1844,170,829 - 44,189,892 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01846,240,952 - 46,260,016 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1846,240,952 - 46,308,721 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11845,688,932 - 45,707,995 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01845,269,721 - 45,288,788 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01846,007,629 - 46,026,693 (-)NCBIUU_Cfam_GSD_1.0
Tollip
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947962,528 - 991,542 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936816216,546 - 245,606 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936816216,542 - 245,545 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TOLLIP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2851,512 - 864,483 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12852,198 - 864,337 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TOLLIP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111,094,535 - 1,127,342 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11,094,582 - 1,125,045 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603898,226,602 - 98,258,983 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tollip
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476621,365,680 - 21,388,471 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476621,365,659 - 21,388,366 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TOLLIP
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1 copy number loss See cases [RCV000052645] Chr11:758848..1998025 [GRCh38]
Chr11:758848..2019255 [GRCh37]
Chr11:748848..1975831 [NCBI36]
Chr11:11p15.5
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
NM_019009.3(TOLLIP):c.33+2142G>A single nucleotide variant Lung cancer [RCV000109824] Chr11:1307324 [GRCh38]
Chr11:1328554 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 copy number loss See cases [RCV000142464] Chr11:1132899..3213923 [GRCh38]
Chr11:1126807..3235153 [GRCh37]
Chr11:1116807..3191729 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5(chr11:850336-1491561)x1 copy number loss Ductal breast carcinoma [RCV000207296] Chr11:850336..1491561 [GRCh37]
Chr11:11p15.5
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207104] Chr11:870446..1857751 [GRCh37]
Chr11:11p15.5
uncertain significance
chr11:1092954..1857751 complex variant complex Ductal breast carcinoma [RCV000207239] Chr11:1092954..1857751 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_019009.4(TOLLIP):c.68G>T (p.Arg23Leu) single nucleotide variant Inborn genetic diseases [RCV003290144] Chr11:1295760 [GRCh38]
Chr11:1316990 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5(chr11:1027811-1302707)x0 copy number loss not provided [RCV000749892] Chr11:1027811..1302707 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3
pathogenic
NM_019009.4(TOLLIP):c.790A>G (p.Ile264Val) single nucleotide variant not provided [RCV000892624] Chr11:1277074 [GRCh38]
Chr11:1298304 [GRCh37]
Chr11:11p15.5
benign
NM_019009.4(TOLLIP):c.535A>G (p.Met179Val) single nucleotide variant Inborn genetic diseases [RCV003289686] Chr11:1286077 [GRCh38]
Chr11:1307307 [GRCh37]
Chr11:11p15.5
uncertain significance
NR_029409.1(TOLLIP-DT):n.317G>C single nucleotide variant not provided [RCV001656803] Chr11:1310024 [GRCh38]
Chr11:1331254 [GRCh37]
Chr11:11p15.5
benign
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV001301561]|Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.184-1067G>C single nucleotide variant Chronic obstructive pulmonary disease [RCV001788487]|Combined pulmonary fibrosis-emphysema syndrome [RCV002472379]|Interstitial lung disease 2 [RCV001788486] Chr11:1291476 [GRCh38]
Chr11:1312706 [GRCh37]
Chr11:11p15.5
association|uncertain significance
NM_019009.4(TOLLIP):c.33+4867A>G single nucleotide variant Chronic obstructive pulmonary disease [RCV001788485]|Interstitial lung disease 2 [RCV001788484] Chr11:1304599 [GRCh38]
Chr11:1325829 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4
not provided
GRCh37/hg19 11p15.5(chr11:1247127-1654552) copy number gain not specified [RCV002052910] Chr11:1247127..1654552 [GRCh37]
Chr11:11p15.5
uncertain significance
NC_000011.9:g.(?_1278740)_(2906719_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV003113999] Chr11:1278740..2906719 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NC_000011.9:g.(?_721044)_(3988932_?)dup duplication not provided [RCV003113442] Chr11:721044..3988932 [GRCh37]
Chr11:11p15.5-15.4
uncertain significance
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2
pathogenic
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 copy number gain not provided [RCV002473945] Chr11:461373..2157956 [GRCh37]
Chr11:11p15.5
pathogenic
NM_019009.4(TOLLIP):c.589G>A (p.Val197Ile) single nucleotide variant Inborn genetic diseases [RCV002998123] Chr11:1286023 [GRCh38]
Chr11:1307253 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.26G>A (p.Arg9His) single nucleotide variant Inborn genetic diseases [RCV002739807] Chr11:1309473 [GRCh38]
Chr11:1330703 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.439G>A (p.Val147Met) single nucleotide variant Inborn genetic diseases [RCV002830768] Chr11:1288704 [GRCh38]
Chr11:1309934 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.673G>T (p.Ala225Ser) single nucleotide variant Inborn genetic diseases [RCV002826451] Chr11:1277191 [GRCh38]
Chr11:1298421 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.8C>T (p.Thr3Ile) single nucleotide variant Inborn genetic diseases [RCV002850564] Chr11:1309491 [GRCh38]
Chr11:1330721 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.295C>T (p.Arg99Cys) single nucleotide variant Inborn genetic diseases [RCV002641731] Chr11:1290298 [GRCh38]
Chr11:1311528 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.146T>A (p.Val49Glu) single nucleotide variant Inborn genetic diseases [RCV002831591] Chr11:1295682 [GRCh38]
Chr11:1316912 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.329C>T (p.Pro110Leu) single nucleotide variant Inborn genetic diseases [RCV002792346] Chr11:1290264 [GRCh38]
Chr11:1311494 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.556G>A (p.Val186Met) single nucleotide variant Inborn genetic diseases [RCV002674788] Chr11:1286056 [GRCh38]
Chr11:1307286 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.787G>A (p.Ala263Thr) single nucleotide variant Inborn genetic diseases [RCV002652756] Chr11:1277077 [GRCh38]
Chr11:1298307 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.711C>G (p.Ile237Met) single nucleotide variant Inborn genetic diseases [RCV002678212] Chr11:1277153 [GRCh38]
Chr11:1298383 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.449A>G (p.Lys150Arg) single nucleotide variant Inborn genetic diseases [RCV003179617] Chr11:1288694 [GRCh38]
Chr11:1309924 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.32C>G (p.Pro11Arg) single nucleotide variant Inborn genetic diseases [RCV003202578] Chr11:1309467 [GRCh38]
Chr11:1330697 [GRCh37]
Chr11:11p15.5
uncertain significance
NM_019009.4(TOLLIP):c.667G>A (p.Val223Met) single nucleotide variant Inborn genetic diseases [RCV003369818] Chr11:1277197 [GRCh38]
Chr11:1298427 [GRCh37]
Chr11:11p15.5
uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 copy number gain not provided [RCV003484828] Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8289
Count of miRNA genes:1182
Interacting mature miRNAs:1507
Transcripts:ENST00000263646, ENST00000317204, ENST00000525159, ENST00000527085, ENST00000527638, ENST00000527746, ENST00000527886, ENST00000527938, ENST00000528719, ENST00000530506, ENST00000530541, ENST00000530821, ENST00000532551, ENST00000542915
Prediction methods:Microtar, Miranda, Rnahybrid
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
RH46115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,295,742 - 1,295,894UniSTSGRCh37
Build 36111,252,318 - 1,252,470RGDNCBI36
Celera111,332,150 - 1,332,302RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,087,301 - 1,087,453UniSTS
GeneMap99-GB4 RH Map1122.82UniSTS
RH92496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,296,248 - 1,296,385UniSTSGRCh37
Build 36111,252,824 - 1,252,961RGDNCBI36
Celera111,332,656 - 1,332,793RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,087,807 - 1,087,944UniSTS
RH103248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,296,921 - 1,297,050UniSTSGRCh37
Build 36111,253,497 - 1,253,626RGDNCBI36
Celera111,333,329 - 1,333,458RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,088,480 - 1,088,609UniSTS
GeneMap99-GB4 RH Map1118.46UniSTS
RH48854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,297,988 - 1,298,130UniSTSGRCh37
Build 36111,254,564 - 1,254,706RGDNCBI36
Celera111,334,396 - 1,334,538RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,089,547 - 1,089,689UniSTS
GeneMap99-GB4 RH Map1122.82UniSTS
NCBI RH Map1110.0UniSTS
TOLLIP_1105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,296,860 - 1,297,646UniSTSGRCh37
Build 36111,253,436 - 1,254,222RGDNCBI36
Celera111,333,268 - 1,334,054RGD
HuRef111,088,419 - 1,089,205UniSTS
STS-T23430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,296,930 - 1,297,024UniSTSGRCh37
Build 36111,253,506 - 1,253,600RGDNCBI36
Celera111,333,338 - 1,333,432RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,088,489 - 1,088,583UniSTS
GeneMap99-GB4 RH Map1122.62UniSTS
NCBI RH Map1110.0UniSTS
IB1016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,296,936 - 1,297,125UniSTSGRCh37
Build 36111,253,512 - 1,253,701RGDNCBI36
Celera111,333,344 - 1,333,533RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,088,495 - 1,088,684UniSTS
GeneMap99-GB4 RH Map1120.9UniSTS
Whitehead-RH Map1121.2UniSTS
NCBI RH Map1110.0UniSTS


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 2423 2631 1718 623 1763 464 4349 2004 3672 413 1445 1598 175 1 1201 2784 4 2
Low 16 360 8 1 187 1 8 193 62 6 15 15 3 4 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001318512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA861717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC136297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ242972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY730683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA227912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB039994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB220293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY031351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000263646   ⟹   ENSP00000263646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,275,653 - 1,309,654 (-)Ensembl
RefSeq Acc Id: ENST00000317204   ⟹   ENSP00000314733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,274,371 - 1,309,632 (-)Ensembl
RefSeq Acc Id: ENST00000525159   ⟹   ENSP00000432668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,274,373 - 1,309,619 (-)Ensembl
RefSeq Acc Id: ENST00000527085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,298,149 - 1,309,644 (-)Ensembl
RefSeq Acc Id: ENST00000527638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,290,915 - 1,309,597 (-)Ensembl
RefSeq Acc Id: ENST00000527746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,290,095 - 1,309,590 (-)Ensembl
RefSeq Acc Id: ENST00000527886   ⟹   ENSP00000434035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,274,372 - 1,302,790 (-)Ensembl
RefSeq Acc Id: ENST00000527938   ⟹   ENSP00000432778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,277,013 - 1,309,623 (-)Ensembl
RefSeq Acc Id: ENST00000528719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,288,636 - 1,292,170 (-)Ensembl
RefSeq Acc Id: ENST00000530506   ⟹   ENSP00000436393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,276,817 - 1,309,583 (-)Ensembl
RefSeq Acc Id: ENST00000530541   ⟹   ENSP00000434494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,277,155 - 1,309,623 (-)Ensembl
RefSeq Acc Id: ENST00000530821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,295,739 - 1,306,194 (-)Ensembl
RefSeq Acc Id: ENST00000532551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,295,377 - 1,309,623 (-)Ensembl
RefSeq Acc Id: NM_001318512   ⟹   NP_001305441
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,274,371 - 1,309,632 (-)NCBI
CHM1_1111,294,507 - 1,328,900 (-)NCBI
T2T-CHM13v2.0111,345,549 - 1,381,261 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318514   ⟹   NP_001305443
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,274,371 - 1,302,790 (-)NCBI
CHM1_1111,294,507 - 1,321,993 (-)NCBI
T2T-CHM13v2.0111,345,549 - 1,374,384 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318515   ⟹   NP_001305444
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,274,371 - 1,309,632 (-)NCBI
CHM1_1111,294,507 - 1,328,900 (-)NCBI
T2T-CHM13v2.0111,345,549 - 1,381,261 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318516   ⟹   NP_001305445
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,274,371 - 1,309,632 (-)NCBI
CHM1_1111,294,507 - 1,328,900 (-)NCBI
T2T-CHM13v2.0111,345,549 - 1,381,261 (-)NCBI
Sequence:
RefSeq Acc Id: NM_019009   ⟹   NP_061882
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,274,371 - 1,309,632 (-)NCBI
GRCh37111,295,598 - 1,330,892 (-)ENTREZGENE
Build 36111,252,177 - 1,287,415 (-)NCBI Archive
HuRef111,087,157 - 1,122,196 (-)ENTREZGENE
CHM1_1111,294,507 - 1,328,900 (-)NCBI
T2T-CHM13v2.0111,345,549 - 1,381,261 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017931   ⟹   XP_016873420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,274,371 - 1,289,319 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047427134   ⟹   XP_047283090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,274,371 - 1,300,012 (-)NCBI
RefSeq Acc Id: XM_047427135   ⟹   XP_047283091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,282,958 - 1,296,503 (-)NCBI
RefSeq Acc Id: XM_047427136   ⟹   XP_047283092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,282,959 - 1,309,632 (-)NCBI
RefSeq Acc Id: XM_054369154   ⟹   XP_054225129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,345,549 - 1,371,606 (-)NCBI
RefSeq Acc Id: XM_054369155   ⟹   XP_054225130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,354,136 - 1,368,153 (-)NCBI
RefSeq Acc Id: XM_054369156   ⟹   XP_054225131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,354,137 - 1,381,261 (-)NCBI
RefSeq Acc Id: XM_054369157   ⟹   XP_054225132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,345,549 - 1,360,455 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001305441 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305443 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305444 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305445 (Get FASTA)   NCBI Sequence Viewer  
  NP_061882 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873420 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283090 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283091 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283092 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189088 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189089 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225129 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225130 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225131 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225132 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH04420 (Get FASTA)   NCBI Sequence Viewer  
  AAH12057 (Get FASTA)   NCBI Sequence Viewer  
  AAH18272 (Get FASTA)   NCBI Sequence Viewer  
  AAX22229 (Get FASTA)   NCBI Sequence Viewer  
  BAB14283 (Get FASTA)   NCBI Sequence Viewer  
  BAC04844 (Get FASTA)   NCBI Sequence Viewer  
  BAD92778 (Get FASTA)   NCBI Sequence Viewer  
  BAG37964 (Get FASTA)   NCBI Sequence Viewer  
  BAG52240 (Get FASTA)   NCBI Sequence Viewer  
  BAG54438 (Get FASTA)   NCBI Sequence Viewer  
  CAB58118 (Get FASTA)   NCBI Sequence Viewer  
  CAB66769 (Get FASTA)   NCBI Sequence Viewer  
  CAG38508 (Get FASTA)   NCBI Sequence Viewer  
  EAX02433 (Get FASTA)   NCBI Sequence Viewer  
  EAX02434 (Get FASTA)   NCBI Sequence Viewer  
  EAX02435 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000263646.6
  ENSP00000314733
  ENSP00000314733.5
  ENSP00000432668
  ENSP00000432668.1
  ENSP00000432778
  ENSP00000432778.1
  ENSP00000434035
  ENSP00000434035.1
  ENSP00000434494
  ENSP00000434494.1
  ENSP00000436393.1
  ENSP00000516890.1
  ENSP00000516891.1
GenBank Protein Q9H0E2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_061882   ⟸   NM_019009
- Peptide Label: isoform 1
- UniProtKB: Q9H9E6 (UniProtKB/Swiss-Prot),   B3KXC6 (UniProtKB/Swiss-Prot),   Q9UJ69 (UniProtKB/Swiss-Prot),   Q9H0E2 (UniProtKB/Swiss-Prot),   Q6FIE9 (UniProtKB/TrEMBL),   E7EN89 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305441   ⟸   NM_001318512
- Peptide Label: isoform 2
- UniProtKB: B3KR28 (UniProtKB/TrEMBL),   E9PQ25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305444   ⟸   NM_001318515
- Peptide Label: isoform 5
- UniProtKB: E9PNS3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305445   ⟸   NM_001318516
- Peptide Label: isoform 4
- UniProtKB: F2Z2Y8 (UniProtKB/TrEMBL),   Q8N8J5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305443   ⟸   NM_001318514
- Peptide Label: isoform 3
- UniProtKB: E7EN89 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873420   ⟸   XM_017017931
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000434494   ⟸   ENST00000530541
RefSeq Acc Id: ENSP00000436393   ⟸   ENST00000530506
RefSeq Acc Id: ENSP00000432668   ⟸   ENST00000525159
RefSeq Acc Id: ENSP00000314733   ⟸   ENST00000317204
RefSeq Acc Id: ENSP00000263646   ⟸   ENST00000263646
RefSeq Acc Id: ENSP00000432778   ⟸   ENST00000527938
RefSeq Acc Id: ENSP00000434035   ⟸   ENST00000527886
RefSeq Acc Id: XP_047283090   ⟸   XM_047427134
- Peptide Label: isoform X4
- UniProtKB: E7EN89 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047283091   ⟸   XM_047427135
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047283092   ⟸   XM_047427136
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054225129   ⟸   XM_054369154
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054225132   ⟸   XM_054369157
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054225130   ⟸   XM_054369155
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054225131   ⟸   XM_054369156
- Peptide Label: isoform X2
Protein Domains
C2   CUE

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H0E2-F1-model_v2 AlphaFold Q9H0E2 1-274 view protein structure

Promoters
RGD ID:6788766
Promoter ID:HG_KWN:11906
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000382211,   NM_019009,   NR_029409,   UC001LTF.1,   UC009YCU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,287,341 - 1,288,997 (-)MPROMDB
RGD ID:7219265
Promoter ID:EPDNEW_H15376
Type:initiation region
Name:TOLLIP_1
Description:toll interacting protein
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
GRCh38111,309,623 - 1,309,683EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16476 AgrOrtholog
COSMIC TOLLIP COSMIC
Ensembl Genes ENSG00000078902 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000291426 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263646.11 UniProtKB/TrEMBL
  ENST00000317204 ENTREZGENE
  ENST00000317204.11 UniProtKB/Swiss-Prot
  ENST00000525159 ENTREZGENE
  ENST00000525159.5 UniProtKB/TrEMBL
  ENST00000527886 ENTREZGENE
  ENST00000527886.5 UniProtKB/Swiss-Prot
  ENST00000527938 ENTREZGENE
  ENST00000527938.5 UniProtKB/TrEMBL
  ENST00000530506.5 UniProtKB/TrEMBL
  ENST00000530541 ENTREZGENE
  ENST00000530541.1 UniProtKB/TrEMBL
  ENST00000707519.1 UniProtKB/Swiss-Prot
  ENST00000707520.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA helicase RuvA subunit, C-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000078902 GTEx
  ENSG00000291426 GTEx
HGNC ID HGNC:16476 ENTREZGENE
Human Proteome Map TOLLIP Human Proteome Map
InterPro C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CUE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TOLIP_CUE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tollip_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBA-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54472 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54472 ENTREZGENE
OMIM 606277 OMIM
PANTHER TOLL-INTERACTING PROTEIN UniProtKB/Swiss-Prot
  TOLL-INTERACTING PROTEIN UniProtKB/Swiss-Prot
  TOLL-INTERACTING PROTEIN UniProtKB/TrEMBL
  TOLL-INTERACTING PROTEIN UniProtKB/TrEMBL
Pfam CUE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134876213 PharmGKB
PROSITE CUE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CUE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46934 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KR28 ENTREZGENE, UniProtKB/TrEMBL
  B3KXC6 ENTREZGENE
  E7EN89 ENTREZGENE, UniProtKB/TrEMBL
  E9PNS3 ENTREZGENE, UniProtKB/TrEMBL
  E9PP67_HUMAN UniProtKB/TrEMBL
  E9PQ25 ENTREZGENE, UniProtKB/TrEMBL
  F2Z2Y8 ENTREZGENE, UniProtKB/TrEMBL
  Q6FIE9 ENTREZGENE, UniProtKB/TrEMBL
  Q8N8J5 ENTREZGENE, UniProtKB/TrEMBL
  Q9H0E2 ENTREZGENE
  Q9H9E6 ENTREZGENE
  Q9UJ69 ENTREZGENE
  TOLIP_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KXC6 UniProtKB/Swiss-Prot
  Q9H9E6 UniProtKB/Swiss-Prot
  Q9UJ69 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-04-14 TOLLIP  toll interacting protein  LOC105376512  uncharacterized LOC105376512  Data merged from RGD:38635868 737654 PROVISIONAL