PKNOX2 (PBX/knotted 1 homeobox 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: PKNOX2 (PBX/knotted 1 homeobox 2) Homo sapiens
Analyze
Symbol: PKNOX2
Name: PBX/knotted 1 homeobox 2
RGD ID: 1348448
HGNC Page HGNC:16714
Description: Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in intercellular bridge and nucleoplasm. Implicated in alcohol dependence.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ13074; homeobox protein PKNOX2; homeobox protein PREP-2; PBX/knotted homeobox 2; PREP2
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
GRCh3811125,164,751 - 125,433,389 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11125,164,687 - 125,433,389 (+)EnsemblGRCh38hg38GRCh38
GRCh3711125,034,647 - 125,303,285 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611124,539,769 - 124,808,495 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411124,726,419 - 124,808,264NCBI
Celera11122,194,601 - 122,463,611 (+)NCBICelera
Cytogenetic Map11q24.2NCBI
HuRef11120,976,463 - 121,244,840 (+)NCBIHuRef
CHM1_111124,920,619 - 125,189,521 (+)NCBICHM1_1
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. An association study revealed substantial effects of dominance, epistasis and substance dependence co-morbidity on alcohol dependence symptom count. Chen G, etal., Addict Biol. 2017 Nov;22(6):1475-1485. doi: 10.1111/adb.12402. Epub 2016 May 5.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11549286   PMID:11972344   PMID:12412021   PMID:12477932   PMID:14702039   PMID:15339927   PMID:15489334   PMID:16344560   PMID:19274049   PMID:19913121   PMID:20211142   PMID:20379614  
PMID:20628086   PMID:21298047   PMID:21703634   PMID:21873635   PMID:21956439   PMID:22137330   PMID:22488850   PMID:22648509   PMID:22688191   PMID:23251661   PMID:26186194   PMID:28473536  
PMID:28514442   PMID:28611215   PMID:30515693   PMID:30745575   PMID:32296183   PMID:33961781   PMID:35044719   PMID:38644381  


Genomics

Comparative Map Data
PKNOX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811125,164,751 - 125,433,389 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11125,164,687 - 125,433,389 (+)EnsemblGRCh38hg38GRCh38
GRCh3711125,034,647 - 125,303,285 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611124,539,769 - 124,808,495 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411124,726,419 - 124,808,264NCBI
Celera11122,194,601 - 122,463,611 (+)NCBICelera
Cytogenetic Map11q24.2NCBI
HuRef11120,976,463 - 121,244,840 (+)NCBIHuRef
CHM1_111124,920,619 - 125,189,521 (+)NCBICHM1_1
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBIT2T-CHM13v2.0
Pknox2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39936,802,278 - 37,058,637 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl936,802,278 - 37,058,703 (-)EnsemblGRCm39 Ensembl
GRCm38936,890,979 - 37,147,342 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl936,890,982 - 37,147,407 (-)EnsemblGRCm38mm10GRCm38
MGSCv37936,698,567 - 36,954,899 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36936,640,653 - 36,896,985 (-)NCBIMGSCv36mm8
Celera934,095,372 - 34,359,379 (-)NCBICelera
Cytogenetic Map9A4NCBI
cM Map920.7NCBI
Pknox2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8844,789,464 - 45,051,933 (-)NCBIGRCr8
mRatBN7.2836,600,633 - 36,863,131 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl836,600,636 - 36,790,940 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx840,610,916 - 40,800,359 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0838,893,988 - 39,083,446 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0836,756,879 - 36,946,335 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0839,361,698 - 39,551,700 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl839,361,218 - 39,551,700 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0839,364,740 - 39,554,742 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4838,136,835 - 38,325,406 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera837,651,569 - 37,840,535 (+)NCBICelera
Cytogenetic Map8q22NCBI
Pknox2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541226,372,846 - 26,468,926 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541226,214,671 - 26,468,737 (+)NCBIChiLan1.0ChiLan1.0
PKNOX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29125,807,624 - 126,128,241 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111126,912,553 - 127,240,365 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011119,991,916 - 120,259,800 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111123,906,012 - 124,173,865 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11124,072,715 - 124,173,865 (+)Ensemblpanpan1.1panPan2
PKNOX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.159,054,138 - 9,363,750 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl59,056,134 - 9,178,159 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha59,098,622 - 9,408,616 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.058,994,772 - 9,302,925 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl58,994,772 - 9,251,650 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.159,065,978 - 9,375,742 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.059,036,663 - 9,346,271 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.059,072,792 - 9,382,834 (-)NCBIUU_Cfam_GSD_1.0
Pknox2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947107,342,759 - 107,612,737 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367431,661,791 - 1,858,278 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367431,661,783 - 1,860,299 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PKNOX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl952,349,714 - 52,610,680 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1952,303,022 - 52,608,505 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2958,127,081 - 58,195,478 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PKNOX2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11116,332,851 - 116,604,758 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1116,523,593 - 116,605,161 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660439,519,677 - 9,788,985 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pknox2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249271,275,956 - 1,460,170 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249271,197,610 - 1,459,777 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PKNOX2
31 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1 copy number loss See cases [RCV000050865] Chr11:124155723..134998513 [GRCh38]
Chr11:124026430..134868407 [GRCh37]
Chr11:123531640..134373617 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645] Chr11:123753493..134998513 [GRCh38]
Chr11:123624201..134868407 [GRCh37]
Chr11:123129411..134373617 [NCBI36]
Chr11:11q24.1-25		 pathogenic
NM_022062.2(PKNOX2):c.-130+36623A>T single nucleotide variant Lung cancer [RCV000109721] Chr11:125271738 [GRCh38]
Chr11:125141634 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_022062.2(PKNOX2):c.227+3465G>T single nucleotide variant Lung cancer [RCV000109723] Chr11:125371450 [GRCh38]
Chr11:125241346 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_022062.2(PKNOX2):c.-129-11657G>A single nucleotide variant Lung cancer [RCV000109722] Chr11:125320162 [GRCh38]
Chr11:125190058 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_022062.2(PKNOX2):c.399+4457C>T single nucleotide variant Lung cancer [RCV000109724] Chr11:125390179 [GRCh38]
Chr11:125260075 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1 copy number loss See cases [RCV000134731] Chr11:124205225..134998526 [GRCh38]
Chr11:124075932..134868420 [GRCh37]
Chr11:123581142..134373630 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 copy number loss See cases [RCV000134708] Chr11:123799938..134998526 [GRCh38]
Chr11:123670646..134868420 [GRCh37]
Chr11:123175856..134373630 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1 copy number loss See cases [RCV000136594] Chr11:122182443..125957977 [GRCh38]
Chr11:122053151..125827872 [GRCh37]
Chr11:121558361..125333082 [NCBI36]
Chr11:11q24.1-24.2		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1 copy number loss See cases [RCV000136612] Chr11:125241472..134998513 [GRCh38]
Chr11:125111368..134868407 [GRCh37]
Chr11:124616578..134373617 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1 copy number loss See cases [RCV000138675] Chr11:124940059..135075271 [GRCh38]
Chr11:124809955..134945165 [GRCh37]
Chr11:124315165..134450377 [NCBI36]
Chr11:11q24.2-25		 pathogenic|likely benign
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1 copy number loss See cases [RCV000138544] Chr11:123963074..135075271 [GRCh38]
Chr11:123833781..134945165 [GRCh37]
Chr11:123338991..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|likely benign
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1 copy number loss See cases [RCV000140070] Chr11:120080142..125829106 [GRCh38]
Chr11:119950851..125699001 [GRCh37]
Chr11:119456061..125204211 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1 copy number loss See cases [RCV000139907] Chr11:124315025..134818116 [GRCh38]
Chr11:124184921..134688010 [GRCh37]
Chr11:123690131..134193220 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic|likely benign
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.2(chr11:124254553-125315622)x1 copy number loss See cases [RCV000448684] Chr11:124254553..125315622 [GRCh37]
Chr11:11q24.2		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 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-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3 copy number gain See cases [RCV000511146] Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001382323.2(PKNOX2):c.727T>G (p.Leu243Val) single nucleotide variant not specified [RCV004325050] Chr11:125410787 [GRCh38]
Chr11:125280683 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.668T>A (p.Leu223His) single nucleotide variant not specified [RCV004305162] Chr11:125410275 [GRCh38]
Chr11:125280171 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.790G>A (p.Gly264Arg) single nucleotide variant not specified [RCV004322951] Chr11:125410850 [GRCh38]
Chr11:125280746 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25		 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
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25		 likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.2(chr11:125072861-125085188)x1 copy number loss not provided [RCV000750220] Chr11:125072861..125085188 [GRCh37]
Chr11:11q24.2		 benign
GRCh37/hg19 11q24.2(chr11:125283262-125289055)x1 copy number loss not provided [RCV000750221] Chr11:125283262..125289055 [GRCh37]
Chr11:11q24.2		 benign
GRCh37/hg19 11q24.2(chr11:125286226-125289055)x1 copy number loss not provided [RCV000750222] Chr11:125286226..125289055 [GRCh37]
Chr11:11q24.2		 benign
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1 copy number loss not provided [RCV001006454] Chr11:124232608..134938470 [GRCh37]
Chr11:11q24.2-25		 pathogenic
Single allele deletion Paris-Trousseau thrombocytopenia [RCV001003843] Chr11:124226940..134944477 [GRCh37]
Chr11:11q24.2-25		 pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
GRCh37/hg19 11q24.2(chr11:125202487-125610231)x1 copy number loss not provided [RCV001006455] Chr11:125202487..125610231 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q24.2(chr11:124941693-125228288)x3 copy number gain not provided [RCV001258503] Chr11:124941693..125228288 [GRCh37]
Chr11:11q24.2		 uncertain significance
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NC_000011.9:g.(?_123504851)_(126163012_?)dup duplication Holoprosencephaly 11 [RCV001871151] Chr11:123504851..126163012 [GRCh37]
Chr11:11q24.1-24.2		 uncertain significance
NC_000011.9:g.(?_123504851)_(126163012_?)del deletion Holoprosencephaly 11 [RCV003119757]|not provided [RCV003119756] Chr11:123504851..126163012 [GRCh37]
Chr11:11q24.1-24.2		 uncertain significance|no classifications from unflagged records
NM_001382323.2(PKNOX2):c.215G>A (p.Arg72Gln) single nucleotide variant not specified [RCV004292181] Chr11:125367973 [GRCh38]
Chr11:125237869 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1 copy number loss not provided [RCV002474497] Chr11:122975824..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553) copy number loss 11q partial monosomy syndrome [RCV003236728] Chr11:120531028..134257553 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001382323.2(PKNOX2):c.1168G>A (p.Gly390Ser) single nucleotide variant not specified [RCV004192723] Chr11:125430117 [GRCh38]
Chr11:125300013 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.1198A>G (p.Ile400Val) single nucleotide variant not specified [RCV004603397] Chr11:125431171 [GRCh38]
Chr11:125301067 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.697G>A (p.Val233Ile) single nucleotide variant not specified [RCV004200682] Chr11:125410304 [GRCh38]
Chr11:125280200 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.1207G>A (p.Asp403Asn) single nucleotide variant not specified [RCV004129402] Chr11:125431180 [GRCh38]
Chr11:125301076 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.1193G>T (p.Gly398Val) single nucleotide variant not specified [RCV004086028] Chr11:125431166 [GRCh38]
Chr11:125301062 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.181A>C (p.Ile61Leu) single nucleotide variant not specified [RCV004140816] Chr11:125367939 [GRCh38]
Chr11:125237835 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.392A>G (p.Asp131Gly) single nucleotide variant not specified [RCV004152359] Chr11:125385715 [GRCh38]
Chr11:125255611 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.332A>C (p.Asn111Thr) single nucleotide variant not specified [RCV004132284] Chr11:125385655 [GRCh38]
Chr11:125255551 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.167T>C (p.Val56Ala) single nucleotide variant not specified [RCV004242322] Chr11:125367925 [GRCh38]
Chr11:125237821 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.121C>G (p.Gln41Glu) single nucleotide variant not specified [RCV004092768] Chr11:125367879 [GRCh38]
Chr11:125237775 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.206C>A (p.Ala69Asp) single nucleotide variant not specified [RCV004509260] Chr11:125367964 [GRCh38]
Chr11:125237860 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.904A>C (p.Ile302Leu) single nucleotide variant not specified [RCV004339137] Chr11:125411833 [GRCh38]
Chr11:125281729 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q24.2(chr11:125208533-125519800)x1 copy number loss not provided [RCV003483143] Chr11:125208533..125519800 [GRCh37]
Chr11:11q24.2		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_001382323.2(PKNOX2):c.535G>T (p.Asp179Tyr) single nucleotide variant not specified [RCV004509262] Chr11:125398009 [GRCh38]
Chr11:125267905 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1 copy number loss not specified [RCV003986915] Chr11:121183636..127620828 [GRCh37]
Chr11:11q23.3-24.2		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1 copy number loss not specified [RCV003986947] Chr11:123523103..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1 copy number loss not specified [RCV003986923] Chr11:121423232..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001382323.2(PKNOX2):c.140C>A (p.Ala47Asp) single nucleotide variant not specified [RCV004657444] Chr11:125367898 [GRCh38]
Chr11:125237794 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.665C>T (p.Ala222Val) single nucleotide variant not specified [RCV004657445] Chr11:125410272 [GRCh38]
Chr11:125280168 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_001382323.2(PKNOX2):c.1309G>A (p.Glu437Lys) single nucleotide variant not specified [RCV004657446] Chr11:125431282 [GRCh38]
Chr11:125301178 [GRCh37]
Chr11:11q24.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5438
Count of miRNA genes:1109
Interacting mature miRNAs:1454
Transcripts:ENST00000298282, ENST00000526955, ENST00000527238, ENST00000530517, ENST00000531116, ENST00000531212, ENST00000532623, ENST00000542175, ENST00000557814, ENST00000558705, ENST00000558729, ENST00000559662, ENST00000561115, ENST00000561298, ENST00000561399
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
407052224GWAS701200_Hdrug dependence QTL GWAS701200 (human)7e-08drug dependence11125309957125309958Human
407108614GWAS757590_Hprotein measurement QTL GWAS757590 (human)3e-08protein measurement11125349877125349878Human
406941382GWAS590358_Htrait in response to allopurinol, uric acid measurement QTL GWAS590358 (human)0.000004trait in response to allopurinol, uric acid measurementblood uric acid level (CMO:0000501)11125227371125227372Human
407040271GWAS689247_Hestrogen-receptor negative breast cancer, survival time QTL GWAS689247 (human)1e-09estrogen-receptor negative breast cancer, survival time11125389528125389529Human
407030547GWAS679523_Hfree androgen index QTL GWAS679523 (human)2e-08free androgen index11125225325125225326Human
407086098GWAS735074_Hprostate carcinoma QTL GWAS735074 (human)3e-23prostate carcinoma11125184897125184898Human
406974613GWAS623589_HAlzheimer disease, survival time QTL GWAS623589 (human)0.000008Alzheimer disease, survival time11125323700125323701Human
407145744GWAS794720_Halcohol dependence QTL GWAS794720 (human)0.000008alcohol dependence11125308507125308508Human
407327826GWAS976802_H5alpha-androstan-3alpha,17beta-diol monosulfate (2) measurement QTL GWAS976802 (human)3e-185alpha-androstan-3alpha,17beta-diol monosulfate (2) measurement11125207025125207034Human
406975769GWAS624745_Halcohol dependence measurement QTL GWAS624745 (human)0.000002alcohol dependence measurement11125302697125302698Human
407066201GWAS715177_Htestosterone measurement QTL GWAS715177 (human)3e-15testosterone measurementserum testosterone level (CMO:0000568)11125211625125211626Human
407029081GWAS678057_HIGFBP-3 measurement QTL GWAS678057 (human)0.000002IGFBP-3 measurement11125407598125407599Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human
406930396GWAS579372_Hheel bone mineral density QTL GWAS579372 (human)6e-15heel bone mineral densitybone mineral density (CMO:0001226)11125195630125195631Human
406996065GWAS645041_Htestosterone measurement QTL GWAS645041 (human)7e-13testosterone measurementserum testosterone level (CMO:0000568)11125211625125211626Human
407043367GWAS692343_Halcohol and nicotine codependence QTL GWAS692343 (human)0.000002alcohol and nicotine codependence11125300743125300744Human
406920875GWAS569851_Hprostate carcinoma QTL GWAS569851 (human)2e-11prostate carcinoma11125184897125184898Human
407006632GWAS655608_Htestosterone measurement QTL GWAS655608 (human)4e-08testosterone measurementserum testosterone level (CMO:0000568)11125211625125211626Human
407025070GWAS674046_HCreutzfeldt Jacob Disease QTL GWAS674046 (human)0.000002Creutzfeldt Jacob Disease11125371150125371151Human
406991855GWAS640831_Htestosterone measurement QTL GWAS640831 (human)1e-18testosterone measurementserum testosterone level (CMO:0000568)11125211625125211626Human
407229800GWAS878776_H5alpha-androstan-3alpha,17beta-diol disulfate measurement QTL GWAS878776 (human)2e-145alpha-androstan-3alpha,17beta-diol disulfate measurement11125211625125211626Human
406966065GWAS615041_Hsleep duration QTL GWAS615041 (human)0.000005sleep duration11125389404125389405Human
406885553GWAS534529_HTesticular Germ Cell Tumor QTL GWAS534529 (human)2e-12Testicular Germ Cell Tumor11125201267125201268Human
407013232GWAS662208_Htestosterone measurement QTL GWAS662208 (human)1e-12testosterone measurementserum testosterone level (CMO:0000568)11125211625125211626Human
407235319GWAS884295_Hbody height QTL GWAS884295 (human)2e-13body height (VT:0001253)body height (CMO:0000106)11125189794125189795Human
406933621GWAS582597_Hprostate carcinoma QTL GWAS582597 (human)2e-23prostate carcinoma11125184897125184898Human
406961204GWAS610180_Hautosomal dominant compelling helio-ophthalmic outburst syndrome QTL GWAS610180 (human)1e-10autosomal dominant compelling helio-ophthalmic outburst syndrome11125230542125230543Human
407037495GWAS686471_Hheel bone mineral density QTL GWAS686471 (human)3e-18heel bone mineral densitybone mineral density (CMO:0001226)11125195630125195631Human
407194672GWAS843648_Haspartate aminotransferase measurement QTL GWAS843648 (human)4e-09aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)11125399444125399445Human
406900151GWAS549127_H5alpha-androstan-3alpha,17beta-diol monosulfate (2) measurement QTL GWAS549127 (human)1e-175alpha-androstan-3alpha,17beta-diol monosulfate (2) measurement11125208500125208501Human
407129021GWAS777997_Halcohol dependence QTL GWAS777997 (human)0.000001alcohol dependence11125302697125302698Human
407324990GWAS973966_Htype 2 diabetes mellitus QTL GWAS973966 (human)1e-21type 2 diabetes mellitus11125330325125330326Human
407021496GWAS670472_Htestosterone measurement QTL GWAS670472 (human)7e-12testosterone measurementserum testosterone level (CMO:0000568)11125211625125211626Human
407096313GWAS745289_Hage-related macular degeneration, disease progression measurement QTL GWAS745289 (human)0.000005age-related macular degeneration, disease progression measurementdisease progression measurement (CMO:0001110)11125302487125302488Human
406905531GWAS554507_HCOVID-19 QTL GWAS554507 (human)0.000005COVID-1911125309879125309880Human
407061496GWAS710472_Hheel bone mineral density QTL GWAS710472 (human)8e-19heel bone mineral densitybone mineral density (CMO:0001226)11125199671125199672Human
407169656GWAS818632_Hbreast milk measurement QTL GWAS818632 (human)4e-09breast milk measurementmilk measurement (CMO:0000787)11125274530125274531Human

Markers in Region
D6S1560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37633,554,695 - 33,554,928UniSTSGRCh37
Build 36633,662,673 - 33,662,906RGDNCBI36
Celera635,109,074 - 35,109,307RGD
HuRef633,296,158 - 33,296,391UniSTS
HuRef1113,045,939 - 13,046,452UniSTS
HuRef11121,219,431 - 121,219,625UniSTS
Marshfield Genetic Map647.71RGD
Genethon Genetic Map647.6UniSTS
deCODE Assembly Map652.75UniSTS
Whitehead-YAC Contig Map6 UniSTS
AFM210ve3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,086,802 - 125,087,072UniSTSGRCh37
Build 3611124,592,012 - 124,592,282RGDNCBI36
Celera11122,246,563 - 122,246,833RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,028,494 - 121,028,764UniSTS
Whitehead-RH Map11580.3UniSTS
D11S1005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,058,311 - 125,058,411UniSTSGRCh37
Build 3611124,563,521 - 124,563,621RGDNCBI36
Celera11122,218,070 - 122,218,170RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,000,009 - 121,000,109UniSTS
D11S689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,256,509 - 125,256,672UniSTSGRCh37
Build 3611124,761,719 - 124,761,882RGDNCBI36
Celera11122,416,269 - 122,416,432RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,198,068 - 121,198,229UniSTS
RH120976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,128,055 - 125,128,326UniSTSGRCh37
Build 3611124,633,265 - 124,633,536RGDNCBI36
Celera11122,287,816 - 122,288,087RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,069,737 - 121,070,008UniSTS
TNG Radiation Hybrid Map1158795.0UniSTS
D11S2090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,086,881 - 125,086,982UniSTSGRCh37
Build 3611124,592,091 - 124,592,192RGDNCBI36
Celera11122,246,642 - 122,246,743RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,028,573 - 121,028,674UniSTS
D11S3196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,160,017 - 125,160,299UniSTSGRCh37
Build 3611124,665,227 - 124,665,509RGDNCBI36
Celera11122,319,778 - 122,320,060RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,101,699 - 121,101,981UniSTS
D11S4445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,131,254 - 125,131,490UniSTSGRCh37
Build 3611124,636,464 - 124,636,700RGDNCBI36
Celera11122,291,015 - 122,291,251RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,072,936 - 121,073,172UniSTS
D11S4447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,184,447 - 125,184,786UniSTSGRCh37
Build 3611124,689,657 - 124,689,996RGDNCBI36
Celera11122,344,208 - 122,344,547RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,126,008 - 121,126,347UniSTS
SHGC-112577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,221,805 - 125,222,139UniSTSGRCh37
Build 3611124,727,015 - 124,727,349RGDNCBI36
Celera11122,381,566 - 122,381,900RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,163,370 - 121,163,704UniSTS
TNG Radiation Hybrid Map1158838.0UniSTS
RH11980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,303,011 - 125,303,201UniSTSGRCh37
Build 3611124,808,221 - 124,808,411RGDNCBI36
Celera11122,463,337 - 122,463,527RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,244,566 - 121,244,756UniSTS
GeneMap99-GB4 RH Map11414.1UniSTS
A009E38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,302,115 - 125,302,219UniSTSGRCh37
Build 3611124,807,325 - 124,807,429RGDNCBI36
Celera11122,462,441 - 122,462,545RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,243,670 - 121,243,774UniSTS
GeneMap99-GB4 RH Map11414.1UniSTS
D11S420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,256,502 - 125,256,673UniSTSGRCh37
Build 3611124,761,712 - 124,761,883RGDNCBI36
Celera11122,416,262 - 122,416,433RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,198,061 - 121,198,230UniSTS
D11S1108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,131,452 - 125,131,601UniSTSGRCh37
Build 3611124,636,662 - 124,636,811RGDNCBI36
Celera11122,291,213 - 122,291,362RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,073,134 - 121,073,283UniSTS
A004A26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,302,985 - 125,303,277UniSTSGRCh37
Build 3611124,808,195 - 124,808,487RGDNCBI36
Celera11122,463,311 - 122,463,603RGD
Cytogenetic Map11q24.2UniSTS
HuRef11121,244,540 - 121,244,832UniSTS
GeneMap99-GB4 RH Map11414.92UniSTS
G32485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711125,302,115 - 125,302,219UniSTSGRCh37
Celera11122,462,441 - 122,462,545UniSTS
Cytogenetic Map11q24.2UniSTS
HuRef11121,243,670 - 121,243,774UniSTS


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 2337 2788 2231 4938 1679 2167 4 589 1186 428 2260 6389 5716 36 3708 1 791 1675 1470 171 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001382323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB065001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ417081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA789677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000298282   ⟹   ENSP00000298282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,164,751 - 125,433,389 (+)Ensembl
Ensembl Acc Id: ENST00000526955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,385,688 - 125,433,389 (+)Ensembl
Ensembl Acc Id: ENST00000527238   ⟹   ENSP00000431599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,164,735 - 125,367,875 (+)Ensembl
Ensembl Acc Id: ENST00000530517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,164,687 - 125,431,501 (+)Ensembl
Ensembl Acc Id: ENST00000531116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,164,695 - 125,431,544 (+)Ensembl
Ensembl Acc Id: ENST00000531212   ⟹   ENSP00000434255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,184,187 - 125,367,880 (+)Ensembl
Ensembl Acc Id: ENST00000532623   ⟹   ENSP00000434377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,164,754 - 125,431,544 (+)Ensembl
Ensembl Acc Id: ENST00000557814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,164,728 - 125,398,063 (+)Ensembl
Ensembl Acc Id: ENST00000558705   ⟹   ENSP00000453374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,330,259 - 125,385,618 (+)Ensembl
Ensembl Acc Id: ENST00000558729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,240,063 - 125,397,915 (+)Ensembl
Ensembl Acc Id: ENST00000559662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,164,726 - 125,397,983 (+)Ensembl
Ensembl Acc Id: ENST00000561115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,240,073 - 125,367,882 (+)Ensembl
Ensembl Acc Id: ENST00000561298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,331,613 - 125,385,688 (+)Ensembl
Ensembl Acc Id: ENST00000561399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,164,752 - 125,288,150 (+)Ensembl
RefSeq Acc Id: NM_001382323   ⟹   NP_001369252
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382324   ⟹   NP_001369253
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382325   ⟹   NP_001369254
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382326   ⟹   NP_001369255
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382327   ⟹   NP_001369256
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382328   ⟹   NP_001369257
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382329   ⟹   NP_001369258
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382330   ⟹   NP_001369259
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382331   ⟹   NP_001369260
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382332   ⟹   NP_001369261
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382333   ⟹   NP_001369262
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382334   ⟹   NP_001369263
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382335   ⟹   NP_001369264
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382336   ⟹   NP_001369265
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382337   ⟹   NP_001369266
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382338   ⟹   NP_001369267
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382339   ⟹   NP_001369268
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382340   ⟹   NP_001369269
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382341   ⟹   NP_001369270
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168076
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168077
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168078
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168079
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168080
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168081
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168082
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168083
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168084
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,433,389 (+)NCBI
T2T-CHM13v2.011125,193,419 - 125,462,086 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001369252 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369253 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369254 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369255 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369256 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369257 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369258 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369259 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369260 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369261 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369262 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369263 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369264 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369265 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369266 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369267 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369268 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369269 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369270 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH45626 (Get FASTA)   NCBI Sequence Viewer  
  BAB14422 (Get FASTA)   NCBI Sequence Viewer  
  BAB83665 (Get FASTA)   NCBI Sequence Viewer  
  BAH12203 (Get FASTA)   NCBI Sequence Viewer  
  BAH12921 (Get FASTA)   NCBI Sequence Viewer  
  BAH14372 (Get FASTA)   NCBI Sequence Viewer  
  BAH14639 (Get FASTA)   NCBI Sequence Viewer  
  CAD01142 (Get FASTA)   NCBI Sequence Viewer  
  CAH56146 (Get FASTA)   NCBI Sequence Viewer  
  EAW67631 (Get FASTA)   NCBI Sequence Viewer  
  EAW67632 (Get FASTA)   NCBI Sequence Viewer  
  EAW67633 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000298282
  ENSP00000298282.8
  ENSP00000431599.1
  ENSP00000434255.1
  ENSP00000434377.1
  ENSP00000453374.1
GenBank Protein Q96KN3 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001369262   ⟸   NM_001382333
- Peptide Label: isoform b
- UniProtKB: B7ZAF3 (UniProtKB/TrEMBL),   B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369257   ⟸   NM_001382328
- Peptide Label: isoform a
- UniProtKB: Q96KN3 (UniProtKB/Swiss-Prot),   Q63HL6 (UniProtKB/Swiss-Prot),   F5GZ15 (UniProtKB/Swiss-Prot),   B7Z5I5 (UniProtKB/Swiss-Prot),   Q86XD1 (UniProtKB/Swiss-Prot),   B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369260   ⟸   NM_001382331
- Peptide Label: isoform b
- UniProtKB: B7ZAF3 (UniProtKB/TrEMBL),   B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369253   ⟸   NM_001382324
- Peptide Label: isoform a
- UniProtKB: Q96KN3 (UniProtKB/Swiss-Prot),   Q63HL6 (UniProtKB/Swiss-Prot),   F5GZ15 (UniProtKB/Swiss-Prot),   B7Z5I5 (UniProtKB/Swiss-Prot),   Q86XD1 (UniProtKB/Swiss-Prot),   B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369252   ⟸   NM_001382323
- Peptide Label: isoform a
- UniProtKB: Q96KN3 (UniProtKB/Swiss-Prot),   Q63HL6 (UniProtKB/Swiss-Prot),   F5GZ15 (UniProtKB/Swiss-Prot),   B7Z5I5 (UniProtKB/Swiss-Prot),   Q86XD1 (UniProtKB/Swiss-Prot),   B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369268   ⟸   NM_001382339
- Peptide Label: isoform e
- UniProtKB: B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369270   ⟸   NM_001382341
- Peptide Label: isoform g
- UniProtKB: B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369263   ⟸   NM_001382334
- Peptide Label: isoform c
RefSeq Acc Id: NP_001369261   ⟸   NM_001382332
- Peptide Label: isoform b
- UniProtKB: B7ZAF3 (UniProtKB/TrEMBL),   B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369265   ⟸   NM_001382336
- Peptide Label: isoform d
RefSeq Acc Id: NP_001369254   ⟸   NM_001382325
- Peptide Label: isoform a
- UniProtKB: Q96KN3 (UniProtKB/Swiss-Prot),   Q63HL6 (UniProtKB/Swiss-Prot),   F5GZ15 (UniProtKB/Swiss-Prot),   B7Z5I5 (UniProtKB/Swiss-Prot),   Q86XD1 (UniProtKB/Swiss-Prot),   B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369258   ⟸   NM_001382329
- Peptide Label: isoform b
- UniProtKB: B7ZAF3 (UniProtKB/TrEMBL),   B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369267   ⟸   NM_001382338
- Peptide Label: isoform d
RefSeq Acc Id: NP_001369255   ⟸   NM_001382326
- Peptide Label: isoform a
- UniProtKB: Q96KN3 (UniProtKB/Swiss-Prot),   Q63HL6 (UniProtKB/Swiss-Prot),   F5GZ15 (UniProtKB/Swiss-Prot),   B7Z5I5 (UniProtKB/Swiss-Prot),   Q86XD1 (UniProtKB/Swiss-Prot),   B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369256   ⟸   NM_001382327
- Peptide Label: isoform a
- UniProtKB: Q96KN3 (UniProtKB/Swiss-Prot),   Q63HL6 (UniProtKB/Swiss-Prot),   F5GZ15 (UniProtKB/Swiss-Prot),   B7Z5I5 (UniProtKB/Swiss-Prot),   Q86XD1 (UniProtKB/Swiss-Prot),   B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369264   ⟸   NM_001382335
- Peptide Label: isoform c
RefSeq Acc Id: NP_001369269   ⟸   NM_001382340
- Peptide Label: isoform f
- UniProtKB: B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369259   ⟸   NM_001382330
- Peptide Label: isoform b
- UniProtKB: B7ZAF3 (UniProtKB/TrEMBL),   B7Z3G7 (UniProtKB/TrEMBL),   B7Z9N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369266   ⟸   NM_001382337
- Peptide Label: isoform d
Ensembl Acc Id: ENSP00000453374   ⟸   ENST00000558705
Ensembl Acc Id: ENSP00000434255   ⟸   ENST00000531212
Ensembl Acc Id: ENSP00000434377   ⟸   ENST00000532623
Ensembl Acc Id: ENSP00000298282   ⟸   ENST00000298282
Ensembl Acc Id: ENSP00000431599   ⟸   ENST00000527238
Protein Domains
Homeobox   MEIS N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96KN3-F1-model_v2 AlphaFold Q96KN3 1-472 view protein structure

Promoters
RGD ID:7222527
Promoter ID:EPDNEW_H17010
Type:initiation region
Name:PKNOX2_1
Description:PBX/knotted 1 homeobox 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17008  EPDNEW_H17011  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,164,751 - 125,164,811EPDNEW
RGD ID:7222531
Promoter ID:EPDNEW_H17011
Type:initiation region
Name:PKNOX2_3
Description:PBX/knotted 1 homeobox 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17008  EPDNEW_H17010  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811125,165,136 - 125,165,196EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16714 AgrOrtholog
COSMIC PKNOX2 COSMIC
Ensembl Genes ENSG00000165495 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000298282 ENTREZGENE
  ENST00000298282.14 UniProtKB/Swiss-Prot
  ENST00000527238.5 UniProtKB/TrEMBL
  ENST00000531212.5 UniProtKB/TrEMBL
  ENST00000532623.5 UniProtKB/TrEMBL
  ENST00000558705.1 UniProtKB/TrEMBL
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165495 GTEx
HGNC ID HGNC:16714 ENTREZGENE
Human Proteome Map PKNOX2 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox_KN_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKNOX/Meis_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TALE_homeobox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 63876 ENTREZGENE
OMIM 613066 OMIM
PANTHER HOMEOBOX PROTEIN PKNOX2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HOMEOBOX PROTEIN TRANSCRIPTION FACTORS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Homeobox_KN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Meis_PKNOX_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33355 PharmGKB
PROSITE HOMEOBOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z3G7 ENTREZGENE, UniProtKB/TrEMBL
  B7Z5I5 ENTREZGENE
  B7Z9N6 ENTREZGENE, UniProtKB/TrEMBL
  B7ZAF3 ENTREZGENE, UniProtKB/TrEMBL
  E9PKL2_HUMAN UniProtKB/TrEMBL
  E9PQS4_HUMAN UniProtKB/TrEMBL
  E9PRB6_HUMAN UniProtKB/TrEMBL
  F5GZ15 ENTREZGENE
  H0YLX0_HUMAN UniProtKB/TrEMBL
  PKNX2_HUMAN UniProtKB/Swiss-Prot
  Q63HL6 ENTREZGENE
  Q86XD1 ENTREZGENE
  Q96KN3 ENTREZGENE
UniProt Secondary B7Z5I5 UniProtKB/Swiss-Prot
  F5GZ15 UniProtKB/Swiss-Prot
  Q63HL6 UniProtKB/Swiss-Prot
  Q86XD1 UniProtKB/Swiss-Prot