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Pathways

PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (https://rgd.mcw.edu/rgdweb/contact/contactus.html).

Term:altered regulatory pathway
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Accession:PW:0000263 term browser browse the term
Definition:Those regulatory pathways that deviate from what their normal course should be. Aberrant regulatory pathways, alone or in combination with other pathways underlie many conditions, disorders and/or diseases.



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altered androgen signaling pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor ISO RGD PMID:18008377 PMID:23759327 RGD:2326139 RGD:8693397 NCBI chr  X:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357
JBrowse link
G NCOA2 nuclear receptor coactivator 2 ISO RGD PMID:23759327 RGD:8693397 NCBI chr 8:66,632,139...66,929,526
Ensembl chr 8:68,293,018...68,400,479
JBrowse link
G NCOR2 nuclear receptor corepressor 2 ISO RGD PMID:23759327 RGD:8693397 NCBI chr12:121,913,368...122,155,031
Ensembl chr12:126,201,779...126,372,745
JBrowse link
altered citric acid cycle pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FH fumarate hydratase ISO RGD PMID:17211469 RGD:6907135 NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO RGD PMID:21771581 RGD:6907134 NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509
JBrowse link
altered clathrin-dependent synaptic vesicle endocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 ISO RGD PMID:25302295 RGD:10450553 NCBI chr 1:64,501,805...64,662,999
Ensembl chr 1:66,399,968...66,550,879
JBrowse link
G SYNJ1 synaptojanin 1 ISO RGD PMID:25302295 RGD:10450553 NCBI chr21:18,990,526...19,088,839
Ensembl chr21:32,368,949...32,466,994
JBrowse link
altered DNA modification pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MBD4 methyl-CpG binding domain 4, DNA glycosylase ISO in silico assessment of loss of DNA-protein interactions and observed enhancement of DNA repair capacity (DRC) in the context of nucleotide excision repair (NER) pathway for SNP RGD PMID:24004570 RGD:9588971 NCBI chr 3:126,489,125...126,498,034
Ensembl chr 3:133,839,643...133,851,450
JBrowse link
altered energy homeostasis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEP leptin ISO RGD PMID:11102451 PMID:15703762 RGD:1357910 RGD:61790 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
JBrowse link
G LEPR leptin receptor ISO RGD PMID:11102451 PMID:15703762 RGD:1357910 RGD:61790 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
G MC4R melanocortin 4 receptor ISO RGD PMID:15189116 RGD:1357925 NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:11874690 RGD:1357926 NCBI chr 5:18,917,488...18,960,102
Ensembl chr 5:19,064,004...19,106,486
JBrowse link
G POMC proopiomelanocortin ISO RGD PMID:11874690 RGD:1357926 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
altered G1/S transition pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN2A cyclin dependent kinase inhibitor 2A ISO RGD PMID:18772397 RGD:5490966 NCBI chr 9:21,803,862...21,831,322 JBrowse link
altered hypoxia inducible factor pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VHL von Hippel-Lindau tumor suppressor ISO RGD PMID:22035299 RGD:6907133 NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
JBrowse link
altered insulin responsive facilitative sugar transporter mediated glucose transport pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT2 AKT serine/threonine kinase 2 ISO RGD PMID:21979934 RGD:7248543 NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271
JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr13:56,513,065...56,706,491
Ensembl chr13:75,282,441...75,361,729
JBrowse link
altered insulin secretion pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 ISO DNA:missense mutation::A1369S RGD PMID:17259403 RGD:2313628 NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 ISO DNA:missense mutation::p.E23K (human)
polymorphisms in the gene are linked to altered insulin secretion; E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian population
RGD PMID:15565284 PMID:17259403 RGD:2313610 RGD:2313628 NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
JBrowse link
altered insulin signaling pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INS insulin ISO RGD PMID:9809695 RGD:2313694 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
JBrowse link
G INSR insulin receptor ISO RGD PMID:9809695 RGD:2313694 NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
JBrowse link
altered leptin system pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INSR insulin receptor ISO increased basal hypothalamic leptin signaling without changes in leptin receptor expression after antisense-mediated hypothalamus-specific Insr knock-down RGD PMID:17585961 RGD:2290473 NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
JBrowse link
G LEP leptin ISO RGD PMID:11102451 PMID:15703762 RGD:1357910 RGD:61790 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
JBrowse link
G LEPR leptin receptor ISO RGD PMID:11102451 PMID:15703762 PMID:17229951 RGD:1357910 RGD:1600611 RGD:61790 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
JBrowse link
altered melanocortin system pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGRP agouti related neuropeptide ISO RGD PMID:15189116 RGD:1357925 NCBI chr16:47,827,532...47,872,727
Ensembl chr16:67,216,008...67,217,258
JBrowse link
G MC4R melanocortin 4 receptor ISO RGD PMID:15189116 RGD:1357925 NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:11874690 PMID:15189116 RGD:1357925 RGD:1357926 NCBI chr 5:18,917,488...18,960,102
Ensembl chr 5:19,064,004...19,106,486
JBrowse link
G POMC proopiomelanocortin ISO RGD PMID:11874690 PMID:15189116 RGD:1357925 RGD:1357926 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
G SDC1 syndecan 1 ISO RGD PMID:15189116 RGD:1357925 NCBI chr2A:20,187,249...20,211,567
Ensembl chr2A:20,302,589...20,309,848
JBrowse link
altered mismatch repair pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MLH1 mutL homolog 1 ISO RGD PMID:11900875 PMID:19078924 RGD:2306714 RGD:4143515 NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
JBrowse link
G MSH2 mutS homolog 2 ISO RGD PMID:11900875 RGD:2306714 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
JBrowse link
G MSH6 mutS homolog 6 ISO RGD PMID:11900875 PMID:19078924 RGD:2306714 RGD:4143515 NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:11900875 RGD:2306714 NCBI chr2B:77,090,215...77,180,724
Ensembl chr2B:195,010,233...195,100,492
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO RGD PMID:11900875 RGD:2306714 NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
JBrowse link
altered mitochondrial autophagy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PINK1 PTEN induced kinase 1 ISO RGD PMID:24735649 RGD:10450527 NCBI chr 1:19,583,330...19,601,248
Ensembl chr 1:20,627,693...20,645,560
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:24735649 RGD:10450527 NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770
JBrowse link
altered nucleotide excision repair pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDB1 damage specific DNA binding protein 1 ISO RGD PMID:22824526 RGD:7246919 NCBI chr11:56,599,422...56,633,140
Ensembl chr11:59,964,235...59,997,805
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO RGD PMID:22824526 RGD:7246919 NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO RGD PMID:22824526 RGD:7246919 NCBI chr2B:32,983,492...33,020,492
Ensembl chr2B:127,922,483...127,959,372
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit ISO in silico assessment of alteration of DNA-protein, protein-protein interactions and observed reduction of DNA repair capacity in the context of nucleotide excision repair pathway for SNP RGD PMID:22824526 PMID:24004570 RGD:7246919 RGD:9588971 NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO RGD PMID:22824526 RGD:7246919 NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:22824526 RGD:7246919 NCBI chr10:44,703,720...44,784,948 JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO RGD PMID:22824526 RGD:7246919 NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496
JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO RGD PMID:22824526 RGD:7246919 NCBI chr 9:68,726,723...68,788,049
Ensembl chr 9:96,886,795...96,909,254
JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO RGD PMID:22824526 RGD:7246919 NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377
JBrowse link
altered p53 signaling pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ETS1 ETS proto-oncogene 1, transcription factor ISO RGD PMID:22713868 RGD:8663430 NCBI chr11:123,272,111...123,400,413
Ensembl chr11:127,174,721...127,288,673
JBrowse link
G MDM2 MDM2 proto-oncogene ISO RGD PMID:19165225 PMID:23262034 RGD:2316186 RGD:8663434 NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278
JBrowse link
G MDM4 MDM4 regulator of p53 ISO RGD PMID:23262034 RGD:8663434 NCBI chr 1:180,117,364...180,151,144
Ensembl chr 1:184,406,124...184,439,344
JBrowse link
G MRE11 MRE11 double strand break repair nuclease ISO RGD PMID:23263379 RGD:8663431 NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
JBrowse link
G NFYA nuclear transcription factor Y subunit alpha ISO RGD PMID:22713868 PMID:23263379 RGD:8663430 RGD:8663431 NCBI chr 6:40,661,407...40,688,440
Ensembl chr 6:41,969,561...41,996,963
JBrowse link
G NFYB nuclear transcription factor Y subunit beta ISO RGD PMID:22713868 PMID:23263379 RGD:8663430 RGD:8663431 NCBI chr12:101,693,559...101,714,057
Ensembl chr12:105,089,028...105,108,825
JBrowse link
G NFYC nuclear transcription factor Y subunit gamma ISO RGD PMID:22713868 PMID:23263379 RGD:8663430 RGD:8663431 NCBI chr 1:39,984,716...40,064,464
Ensembl chr 1:41,304,194...41,383,615
JBrowse link
G PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO RGD PMID:22713868 RGD:8663430 NCBI chr19:9,389,829...9,404,099
Ensembl chr19:10,053,254...10,066,853
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:22713868 PMID:23263379 RGD:8663430 RGD:8663431 NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947
JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:18772397 PMID:19078924 PMID:19165225 PMID:20951313 PMID:22713868 More... RGD:2316186 RGD:4143515 RGD:5133242 RGD:5490966 RGD:8663430 RGD:8663431 RGD:8693397 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TP63 tumor protein p63 ISO RGD PMID:22713868 PMID:23263379 RGD:8663430 RGD:8663431 NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104
JBrowse link
G TP73 tumor protein p73 ISO RGD PMID:22713868 PMID:23263379 RGD:8663430 RGD:8663431 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
JBrowse link
G VDR vitamin D receptor ISO RGD PMID:22713868 RGD:8663430 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
altered retinoid cycle metabolic pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO RGD PMID:20212494 RGD:8547536 NCBI chr 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589
JBrowse link
G LRAT lecithin retinol acyltransferase ISO RGD PMID:20212494 RGD:8547536 NCBI chr 4:147,110,568...147,119,706
Ensembl chr 4:158,928,607...158,937,747
JBrowse link
G RBP3 retinol binding protein 3 ISO RGD PMID:20212494 RGD:8547536 NCBI chr10:46,543,196...46,558,978 JBrowse link
G RDH12 retinol dehydrogenase 12 ISO RGD PMID:20212494 RGD:8547536 NCBI chr14:48,297,854...48,314,502
Ensembl chr14:67,180,696...67,192,345
JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO RGD PMID:20212494 RGD:8547536 NCBI chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO RGD PMID:20212494 RGD:8547536 NCBI chr 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904
JBrowse link
altered retromer-mediated pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 ISO RGD PMID:25701813 RGD:10450845 NCBI chr 3:129,492,658...129,612,040
Ensembl chr 3:136,970,007...137,088,775
JBrowse link
G VPS35 VPS35 retromer complex component ISO RGD PMID:25619244 PMID:25701813 RGD:10450542 RGD:10450845 NCBI chr16:26,924,901...26,954,443
Ensembl chr16:45,817,371...45,846,531
JBrowse link
altered reverse cholesterol transport pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO RGD PMID:11086027 RGD:1600951 NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
JBrowse link
altered surfactant homeostasis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 ISO RGD PMID:15985750 RGD:1549859 NCBI chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427
JBrowse link
altered SWI/SNF family mediated chromatin remodeling pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL6A actin like 6A ISO RGD PMID:23355908 RGD:8694154 NCBI chr 3:176,595,149...176,620,556
Ensembl chr 3:184,765,523...184,790,983
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO RGD PMID:23355908 RGD:8694154 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO RGD PMID:23355908 RGD:8694154 NCBI chr 6:154,581,148...155,018,706 JBrowse link
G PBRM1 polybromo 1 ISO RGD PMID:23355908 RGD:8694154 NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146
JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO RGD PMID:23355908 RGD:8694154 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
JBrowse link
altered ubiquitin/proteasome degradation pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBE2D3 ubiquitin conjugating enzyme E2 D3 ISO RGD PMID:11020223 RGD:1302873 NCBI chr 4:95,218,319...95,293,053
Ensembl chr 4:105,883,133...105,900,546
JBrowse link
G UBE2D4 ubiquitin conjugating enzyme E2 D4 (putative) ISO RGD PMID:11020223 RGD:1302873 NCBI chr 7:40,295,047...40,324,705 JBrowse link
G UBE2G1 ubiquitin conjugating enzyme E2 G1 ISO RGD PMID:11020223 RGD:1302873 NCBI chr17:4,321,294...4,416,936
Ensembl chr17:4,312,625...4,351,697
JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO RGD PMID:11020223 RGD:1302873 Ensembl chr16:1,367,288...1,382,575 JBrowse link
G UBE2N ubiquitin conjugating enzyme E2 N ISO RGD PMID:11020223 RGD:1302873 NCBI chr12:90,951,446...90,984,075 JBrowse link
altered vascular endothelial growth factor signaling pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLT4 fms related receptor tyrosine kinase 4 ISO RGD PMID:15563310 RGD:1334463 NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006
JBrowse link
altered vascular endothelial growth factor signaling pathway involving proteins affecting its expression term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDR kinase insert domain receptor ISO RGD PMID:18221855 RGD:2292019 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:18221855 RGD:2292019 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
altered vascular endothelial growth factor signaling pathway involving the main players term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLT4 fms related receptor tyrosine kinase 4 ISO RGD PMID:15563310 RGD:1334463 NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006
JBrowse link
G KDR kinase insert domain receptor ISO RGD PMID:18221855 RGD:2292019 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:18221855 RGD:2292019 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link

Term paths to the root