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 (http://rgd.mcw.edu/contact/index.shtml ).
Term: altered regulatory pathway
Accession: PW:0000263
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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Ar
androgen receptor
ISO
RGD
PMID:18008377 PMID:23759327
RGD:2326139 , RGD:8693397
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:63,104,771...63,273,925
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Ncoa2
nuclear receptor coactivator 2
ISO
RGD
PMID:23759327
RGD:8693397
NCBI chr 5:10,618,712...10,852,776
Ensembl chr 5:5,835,706...6,067,451
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Ncor2
nuclear receptor co-repressor 2
ISO
RGD
PMID:23759327
RGD:8693397
NCBI chr12:37,127,736...37,289,612
Ensembl chr12:31,466,412...31,628,319
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Fh
fumarate hydratase
ISO
RGD
PMID:17211469
RGD:6907135
NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
RGD
PMID:21771581
RGD:6907134
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293
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Sdhd
succinate dehydrogenase complex subunit D
ISO
RGD
PMID:21771581
RGD:6907134
NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238
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Dnajc6
DnaJ heat shock protein family (Hsp40) member C6
ISO
RGD
PMID:25302295
RGD:10450553
NCBI chr 5:121,232,532...121,398,775
Ensembl chr 5:116,119,676...116,283,448
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Synj1
synaptojanin 1
ISO
RGD
PMID:25302295
RGD:10450553
NCBI chr11:43,678,709...43,755,526
Ensembl chr11:30,192,629...30,269,220
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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 4:150,565,646...150,577,433
Ensembl chr 4:148,894,280...148,904,982
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Lep
leptin
TAS
RGD
PMID:11102451
RGD:61790
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
TAS
RGD
PMID:11102451
RGD:61790
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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Mc4r
melanocortin 4 receptor
ISS
RGD
PMID:15189116
RGD:1357925
NCBI chr18:62,689,798...62,691,685
Ensembl chr18:60,419,832...60,421,719
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Pcsk1
proprotein convertase subtilisin/kexin type 1
ISS
RGD
PMID:11874690
RGD:1357926
NCBI chr 2:6,130,045...6,176,974
Ensembl chr 2:4,395,543...4,442,434
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Pomc
proopiomelanocortin
ISS
RGD
PMID:15189116
RGD:1357925
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
RGD
PMID:18772397
RGD:5490966
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Vhl
von Hippel-Lindau tumor suppressor
ISO
RGD
PMID:22035299
RGD:6907133
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
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Akt2
AKT serine/threonine kinase 2
ISO
RGD
PMID:21979934
RGD:7248543
NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:82,883,547...82,933,817
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Tbc1d4
TBC1 domain family, member 4
ISO
RGD
PMID:19470471
RGD:7248544
NCBI chr15:84,670,756...84,848,876
Ensembl chr15:78,257,121...78,434,265
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Abcc8
ATP binding cassette subfamily C member 8
ISO
DNA:missense mutation::A1369S (human)
RGD
PMID:17259403
RGD:2313628
NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
polymorphisms in the human gene are linked to altered insulin secretion; E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian population DNA:missense mutation::p.E23K (human)
RGD
PMID:15565284 PMID:17259403
RGD:2313610 , RGD:2313628
NCBI chr 1:105,727,473...105,731,167
Ensembl chr 1:96,591,049...96,594,082
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Ins2
insulin 2
ISO
RGD
PMID:9809695
RGD:2313694
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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Insr
insulin receptor
ISO
RGD
PMID:9809695
RGD:2313694
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
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Insr
insulin receptor
IMP
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 chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
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Lep
leptin
TAS
RGD
PMID:11102451
RGD:61790
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
TAS ISO
RGD
PMID:11102451 PMID:17229951
RGD:61790 , RGD:1600611
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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Lepr_v2
leptin receptor, variant 2
ISO
RGD
PMID:17578380
RGD:2290292
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Agrp
agouti related neuropeptide
ISO
RGD
PMID:15189116
RGD:1357925
NCBI chr19:33,447,992...33,481,602
Ensembl chr19:33,447,992...33,449,584
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Mc4r
melanocortin 4 receptor
ISS
RGD
PMID:15189116
RGD:1357925
NCBI chr18:62,689,798...62,691,685
Ensembl chr18:60,419,832...60,421,719
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Pcsk1
proprotein convertase subtilisin/kexin type 1
ISS ISO
RGD
PMID:11874690 PMID:15189116
RGD:1357926 , RGD:1357925
NCBI chr 2:6,130,045...6,176,974
Ensembl chr 2:4,395,543...4,442,434
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Pomc
proopiomelanocortin
ISS ISO
RGD
PMID:15189116 PMID:11874690
RGD:1357925 , RGD:1357926
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
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Sdc1
syndecan 1
ISO
RGD
PMID:15189116
RGD:1357925
NCBI chr 6:37,282,041...37,304,503
Ensembl chr 6:31,562,739...31,585,264
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Mlh1
mutL homolog 1
ISO
RGD
PMID:11900875 PMID:19078924
RGD:2306714 , RGD:4143515
NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617
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Msh2
mutS homolog 2
ISO
RGD
PMID:11900875
RGD:2306714
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
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Msh6
mutS homolog 6
ISO
RGD
PMID:11900875
RGD:2306714
NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956
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Pms1
PMS1 homolog 1, mismatch repair system component
ISO
RGD
PMID:11900875
RGD:2306714
NCBI chr 9:55,721,393...55,832,225
Ensembl chr 9:48,253,410...48,340,237
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
RGD
PMID:11900875
RGD:2306714
NCBI chr12:15,790,478...15,814,790
Ensembl chr12:10,676,764...10,701,066
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Pink1
PTEN induced kinase 1
ISO
RGD
PMID:24735649
RGD:10450527
NCBI chr 5:155,813,838...155,825,950
Ensembl chr 5:150,530,523...150,542,635
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
RGD
PMID:24735649
RGD:10450527
NCBI chr 1:51,236,410...52,430,242
Ensembl chr 1:48,690,556...49,882,555
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Ddb1
damage-specific DNA binding protein 1
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr 1:216,677,810...216,703,605
Ensembl chr 1:207,252,890...207,278,676
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc3
ERCC excision repair 3, TFIIH core complex helicase subunit
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr18:24,157,831...24,188,543
Ensembl chr18:23,883,580...23,914,329
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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 chr10:2,926,085...2,958,176
Ensembl chr10:2,419,038...2,448,369 Ensembl chr10:2,419,038...2,448,369
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Ercc5
ERCC excision repair 5, endonuclease
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,765,013...7,835,587
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Ercc8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr 2:41,380,901...41,418,294
Ensembl chr 2:39,647,452...39,684,859
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Xpa
XPA, DNA damage recognition and repair factor
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr 5:65,227,281...65,275,784
Ensembl chr 5:60,431,673...60,475,726
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Xpc
XPC complex subunit, DNA damage recognition and repair factor
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr 4:125,550,833...125,578,084
Ensembl chr 4:123,993,666...124,021,010
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Ets1
ETS proto-oncogene 1, transcription factor
ISO
RGD
PMID:22713868
RGD:8663430
NCBI chr 8:39,303,936...39,426,022
Ensembl chr 8:31,045,945...31,168,010
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Mdm2
MDM2 proto-oncogene
ISO
RGD
PMID:19165225 PMID:23262034
RGD:2316186 , RGD:8663434
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915
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Mdm4
MDM4 regulator of p53
ISO
RGD
PMID:23262034
RGD:8663434
NCBI chr13:46,922,236...47,068,241
Ensembl chr13:44,406,213...44,474,226
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Mre11
MRE11 homolog, double strand break repair nuclease
ISO
RGD
PMID:23263379
RGD:8663431
NCBI chr 8:19,900,211...19,961,906
Ensembl chr 8:11,632,354...11,678,279
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Nfya
nuclear transcription factor Y subunit alpha
ISO
RGD
PMID:23263379 PMID:22713868
RGD:8663431 , RGD:8663430
NCBI chr 9:12,587,437...12,613,911
Ensembl chr 9:12,586,259...12,613,898
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Nfyb
nuclear transcription factor Y subunit beta
ISO
RGD
PMID:23263379 PMID:22713868
RGD:8663431 , RGD:8663430
NCBI chr 7:22,852,543...22,868,116
Ensembl chr 7:20,964,993...20,980,565
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Nfyc
nuclear transcription factor Y subunit gamma
ISO
RGD
PMID:23263379 PMID:22713868
RGD:8663431 , RGD:8663430
NCBI chr 5:134,336,802...134,405,372
Ensembl chr 5:134,336,808...134,405,377
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Pin1
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
ISO
RGD
PMID:22713868
RGD:8663430
NCBI chr 8:27,465,538...27,477,016
Ensembl chr 8:19,189,373...19,200,785
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Srebf2
sterol regulatory element binding transcription factor 2
ISO
RGD
PMID:23263379 PMID:22713868
RGD:8663431 , RGD:8663430
NCBI chr 7:115,542,774...115,600,945
Ensembl chr 7:113,663,202...113,720,848
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Tp53
tumor protein p53
ISO
DNA:mutations:exon
RGD
PMID:19165225 PMID:23759327 PMID:22713868 PMID:23263379 PMID:18772397 PMID:20951313 PMID:19078924 More...
RGD:2316186 , RGD:8693397 , RGD:8663430 , RGD:8663431 , RGD:5490966 , RGD:5133242 , RGD:4143515
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tp63
tumor protein p63
ISO
RGD
PMID:23263379 PMID:22713868
RGD:8663431 , RGD:8663430
NCBI chr11:88,343,647...88,554,543
Ensembl chr11:74,838,859...75,049,398
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Tp73
tumor protein p73
ISO
RGD
PMID:23263379 PMID:22713868
RGD:8663431 , RGD:8663430
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128
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Vdr
vitamin D receptor
ISO
RGD
PMID:22713868
RGD:8663430
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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Abca4
ATP binding cassette subfamily A member 4
ISO
RGD
PMID:20212494
RGD:8547536
NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:210,164,813...210,302,069
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Lrat
lecithin retinol acyltransferase
ISO
RGD
PMID:20212494
RGD:8547536
NCBI chr 2:170,562,148...170,571,212
Ensembl chr 2:168,266,877...168,273,619
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Rbp3
retinol binding protein 3
ISO
RGD
PMID:20212494
RGD:8547536
NCBI chr16:9,273,787...9,282,255
Ensembl chr16:9,267,538...9,276,006
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Rdh12
retinol dehydrogenase 12
ISO
RGD
PMID:20212494
RGD:8547536
NCBI chr 6:103,748,457...103,761,379
Ensembl chr 6:98,015,465...98,028,388
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Rlbp1
retinaldehyde binding protein 1
ISO
RGD
PMID:20212494
RGD:8547536
NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:133,308,938...133,322,296
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Rpe65
retinoid isomerohydrolase RPE65
ISO
RGD
PMID:20212494
RGD:8547536
NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:248,766,612...248,798,403
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Dnajc13
DnaJ heat shock protein family (Hsp40) member C13
ISO
RGD
PMID:25701813
RGD:10450845
NCBI chr 8:113,646,573...113,756,104
Ensembl chr 8:104,767,788...104,877,317
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Vps35
VPS35 retromer complex component
ISO
RGD
PMID:25619244 PMID:25701813
RGD:10450542 , RGD:10450845
NCBI chr19:37,938,989...37,974,887
Ensembl chr19:21,765,749...21,801,618
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Abca1
ATP binding cassette subfamily A member 1
ISO
RGD
PMID:11086027
RGD:1600951
NCBI chr 5:72,473,676...72,596,563
Ensembl chr 5:67,681,297...67,801,170
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Abca3
ATP binding cassette subfamily A member 3
ISS
RGD
PMID:15985750
RGD:1549859
NCBI chr10:13,886,948...13,944,286
Ensembl chr10:13,382,540...13,439,745
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Actl6a
actin-like 6A
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr 2:117,413,206...117,436,758
Ensembl chr 2:115,492,285...115,508,401
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Arid1a
AT-rich interaction domain 1A
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
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Arid1b
AT-rich interaction domain 1B
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:45,563,623...45,923,493
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Pbrm1
polybromo 1
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr16:6,219,933...6,319,336
Ensembl chr16:6,213,300...6,311,780
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Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:20,167,717...20,258,975
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Snca
synuclein alpha
ISS
RGD
PMID:14556719
RGD:1302872
NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:89,696,420...89,796,262
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Uba1y
ubiquitin-activating enzyme, Chr Y
IMP
RGD
PMID:11020223
RGD:1302873
NCBI chr Y:481,352...504,038
Ensembl chr Y:459,843...480,216
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Ube2d2b
ubiquitin-conjugating enzyme E2D 2B
IMP
RGD
PMID:11020223
RGD:1302873
NCBI chr14:1,915,999...1,917,473
Ensembl chr14:1,916,845...1,917,416
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Ube2d3
ubiquitin-conjugating enzyme E2D 3
IMP
RGD
PMID:11020223
RGD:1302873
NCBI chr 2:226,543,194...226,571,001
Ensembl chr 2:223,868,730...223,898,081
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Ube2g1
ubiquitin-conjugating enzyme E2G 1
IMP
RGD
PMID:11020223
RGD:1302873
NCBI chr10:57,225,963...57,306,748
Ensembl chr10:57,225,952...57,308,568
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Ube2i
ubiquitin-conjugating enzyme E2I
IMP
RGD
PMID:11020223
RGD:1302873
NCBI chr10:14,782,245...14,802,911
Ensembl chr10:69,701,618...69,702,443 Ensembl chr10:69,701,618...69,702,443
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Ube2n
ubiquitin-conjugating enzyme E2N
IMP
RGD
PMID:11020223
RGD:1302873
NCBI chr 7:32,041,190...32,071,252
Ensembl chr 7:30,154,616...30,184,355
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Flt4
Fms related receptor tyrosine kinase 4
ISS
RGD
PMID:15563310
RGD:1334463
NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770
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Kdr
kinase insert domain receptor
IMP
RGD
PMID:18221855
RGD:2292019
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:18221855
RGD:2292019
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Flt4
Fms related receptor tyrosine kinase 4
ISS
RGD
PMID:15563310
RGD:1334463
NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770
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Kdr
kinase insert domain receptor
IMP
RGD
PMID:18221855
RGD:2292019
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:18221855
RGD:2292019
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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