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Fusion Protein:SMAD6-NPAS2 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: SMAD6-NPAS2 | FusionPDB ID: 83827 | FusionGDB2.0 ID: 83827 | Hgene | Tgene | Gene symbol | SMAD6 | NPAS2 | Gene ID | 4091 | 4862 |
Gene name | SMAD family member 6 | neuronal PAS domain protein 2 | |
Synonyms | AOVD2|HsT17432|MADH6|MADH7 | MOP4|PASD4|bHLHe9 | |
Cytomap | 15q22.31 | 2q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | mothers against decapentaplegic homolog 6MAD homolog 6SMAD, mothers against DPP homolog 6mothers against decapentaplegic, drosophila, homolog of, 6 | neuronal PAS domain-containing protein 2PAS domain-containing protein 4basic-helix-loop-helix-PAS protein MOP4class E basic helix-loop-helix protein 9member of PAS protein 4member of PAS superfamily 4neuronal PAS2 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q99743 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000288840, ENST00000338426, ENST00000457357, | ENST00000486017, ENST00000335681, ENST00000542504, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 4 X 3 X 4=48 | 9 X 9 X 5=405 |
# samples | 5 | 9 | |
** MAII score | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(9/405*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: SMAD6 [Title/Abstract] AND NPAS2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | SMAD6(67004062)-NPAS2(101580519), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | SMAD6-NPAS2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. SMAD6-NPAS2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. SMAD6-NPAS2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. SMAD6-NPAS2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SMAD6 | GO:0010991 | negative regulation of SMAD protein complex assembly | 9436979 |
Hgene | SMAD6 | GO:0030509 | BMP signaling pathway | 23455153 |
Hgene | SMAD6 | GO:0030514 | negative regulation of BMP signaling pathway | 9436979 |
Hgene | SMAD6 | GO:0032496 | response to lipopolysaccharide | 19193853 |
Hgene | SMAD6 | GO:0045444 | fat cell differentiation | 23455153 |
Hgene | SMAD6 | GO:0060394 | negative regulation of pathway-restricted SMAD protein phosphorylation | 9436979 |
Tgene | NPAS2 | GO:0045893 | positive regulation of transcription, DNA-templated | 11441146 |
Tgene | NPAS2 | GO:0051775 | response to redox state | 11441146 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | ESCA | TCGA-L5-A891 | SMAD6 | chr15 | 67004062 | + | NPAS2 | chr2 | 101580519 | + |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000288840 | SMAD6 | chr15 | 67004062 | + | ENST00000335681 | NPAS2 | chr2 | 101580519 | + | 5029 | 1905 | 1031 | 3781 | 916 |
ENST00000288840 | SMAD6 | chr15 | 67004062 | + | ENST00000542504 | NPAS2 | chr2 | 101580519 | + | 3835 | 1905 | 1031 | 3781 | 916 |
ENST00000457357 | SMAD6 | chr15 | 67004062 | + | ENST00000335681 | NPAS2 | chr2 | 101580519 | + | 4921 | 1797 | 923 | 3673 | 916 |
ENST00000457357 | SMAD6 | chr15 | 67004062 | + | ENST00000542504 | NPAS2 | chr2 | 101580519 | + | 3727 | 1797 | 923 | 3673 | 916 |
ENST00000338426 | SMAD6 | chr15 | 67004062 | + | ENST00000335681 | NPAS2 | chr2 | 101580519 | + | 3328 | 204 | 113 | 2080 | 655 |
ENST00000338426 | SMAD6 | chr15 | 67004062 | + | ENST00000542504 | NPAS2 | chr2 | 101580519 | + | 2134 | 204 | 113 | 2080 | 655 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000288840 | ENST00000335681 | SMAD6 | chr15 | 67004062 | + | NPAS2 | chr2 | 101580519 | + | 0.011618266 | 0.9883817 |
ENST00000288840 | ENST00000542504 | SMAD6 | chr15 | 67004062 | + | NPAS2 | chr2 | 101580519 | + | 0.026532397 | 0.97346765 |
ENST00000457357 | ENST00000335681 | SMAD6 | chr15 | 67004062 | + | NPAS2 | chr2 | 101580519 | + | 0.010349995 | 0.98965 |
ENST00000457357 | ENST00000542504 | SMAD6 | chr15 | 67004062 | + | NPAS2 | chr2 | 101580519 | + | 0.024498941 | 0.9755011 |
ENST00000338426 | ENST00000335681 | SMAD6 | chr15 | 67004062 | + | NPAS2 | chr2 | 101580519 | + | 0.062372908 | 0.9376271 |
ENST00000338426 | ENST00000542504 | SMAD6 | chr15 | 67004062 | + | NPAS2 | chr2 | 101580519 | + | 0.03334287 | 0.9666571 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >83827_83827_1_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000288840_NPAS2_chr2_101580519_ENST00000335681_length(amino acids)=916AA_BP=289 MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPP RPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLL KRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLC GPESPPPPYSRLSPRDEYKPLVPSPSCNGFDNTLSRPCRVPLGKEVCFIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEWKFLFLDHRA PPIIGYLPFEVLGTSGYDYYHIDDLELLARCHQHLMQFGKGKSCCYRFLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHSVVSYADVRV ERRQELALEDPPSEALHSSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSHTAMSEPTSTPTKLMAEASTPALPRSATL PQELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQEELHKIQEQLCLVQ DSNVQMFLQQPAVSLSFSSTQRPEAQQQLQQRSAAVTQPQLGAGPQLPGQISSAQVTSQHLLRESSVISTQGPKPMRSSQLMQSSGRSGS SLVSPFSSATAALPPSLNLTTPASTSQDASQCQPSPDFSHDRQLRLLLSQPIQPMMPGSCDARQPSEVSRTGRQVKYAQSQTVFQNPDAH PANSSSAPMPVLLMGQAVLHPSFPASQPSPLQPAQARQQPPQHYLQVQAPTSLHSEQQDSLLLSTYSQQPGTLGYPQPPPAQPQPLRPPR -------------------------------------------------------------- >83827_83827_2_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000288840_NPAS2_chr2_101580519_ENST00000542504_length(amino acids)=916AA_BP=289 MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPP RPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLL KRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLC GPESPPPPYSRLSPRDEYKPLVPSPSCNGFDNTLSRPCRVPLGKEVCFIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEWKFLFLDHRA PPIIGYLPFEVLGTSGYDYYHIDDLELLARCHQHLMQFGKGKSCCYRFLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHSVVSYADVRV ERRQELALEDPPSEALHSSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSHTAMSEPTSTPTKLMAEASTPALPRSATL PQELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQEELHKIQEQLCLVQ DSNVQMFLQQPAVSLSFSSTQRPEAQQQLQQRSAAVTQPQLGAGPQLPGQISSAQVTSQHLLRESSVISTQGPKPMRSSQLMQSSGRSGS SLVSPFSSATAALPPSLNLTTPASTSQDASQCQPSPDFSHDRQLRLLLSQPIQPMMPGSCDARQPSEVSRTGRQVKYAQSQTVFQNPDAH PANSSSAPMPVLLMGQAVLHPSFPASQPSPLQPAQARQQPPQHYLQVQAPTSLHSEQQDSLLLSTYSQQPGTLGYPQPPPAQPQPLRPPR -------------------------------------------------------------- >83827_83827_3_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000338426_NPAS2_chr2_101580519_ENST00000335681_length(amino acids)=655AA_BP=28 MSRMGKPIETQKSPPPPYSRLSPRDEYKPLVPSPSCNGFDNTLSRPCRVPLGKEVCFIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEW KFLFLDHRAPPIIGYLPFEVLGTSGYDYYHIDDLELLARCHQHLMQFGKGKSCCYRFLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHS VVSYADVRVERRQELALEDPPSEALHSSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSHTAMSEPTSTPTKLMAEAST PALPRSATLPQELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQEELHK IQEQLCLVQDSNVQMFLQQPAVSLSFSSTQRPEAQQQLQQRSAAVTQPQLGAGPQLPGQISSAQVTSQHLLRESSVISTQGPKPMRSSQL MQSSGRSGSSLVSPFSSATAALPPSLNLTTPASTSQDASQCQPSPDFSHDRQLRLLLSQPIQPMMPGSCDARQPSEVSRTGRQVKYAQSQ TVFQNPDAHPANSSSAPMPVLLMGQAVLHPSFPASQPSPLQPAQARQQPPQHYLQVQAPTSLHSEQQDSLLLSTYSQQPGTLGYPQPPPA -------------------------------------------------------------- >83827_83827_4_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000338426_NPAS2_chr2_101580519_ENST00000542504_length(amino acids)=655AA_BP=28 MSRMGKPIETQKSPPPPYSRLSPRDEYKPLVPSPSCNGFDNTLSRPCRVPLGKEVCFIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEW KFLFLDHRAPPIIGYLPFEVLGTSGYDYYHIDDLELLARCHQHLMQFGKGKSCCYRFLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHS VVSYADVRVERRQELALEDPPSEALHSSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSHTAMSEPTSTPTKLMAEAST PALPRSATLPQELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQEELHK IQEQLCLVQDSNVQMFLQQPAVSLSFSSTQRPEAQQQLQQRSAAVTQPQLGAGPQLPGQISSAQVTSQHLLRESSVISTQGPKPMRSSQL MQSSGRSGSSLVSPFSSATAALPPSLNLTTPASTSQDASQCQPSPDFSHDRQLRLLLSQPIQPMMPGSCDARQPSEVSRTGRQVKYAQSQ TVFQNPDAHPANSSSAPMPVLLMGQAVLHPSFPASQPSPLQPAQARQQPPQHYLQVQAPTSLHSEQQDSLLLSTYSQQPGTLGYPQPPPA -------------------------------------------------------------- >83827_83827_5_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000457357_NPAS2_chr2_101580519_ENST00000335681_length(amino acids)=916AA_BP=289 MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPP RPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLL KRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLC GPESPPPPYSRLSPRDEYKPLVPSPSCNGFDNTLSRPCRVPLGKEVCFIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEWKFLFLDHRA PPIIGYLPFEVLGTSGYDYYHIDDLELLARCHQHLMQFGKGKSCCYRFLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHSVVSYADVRV ERRQELALEDPPSEALHSSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSHTAMSEPTSTPTKLMAEASTPALPRSATL PQELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQEELHKIQEQLCLVQ DSNVQMFLQQPAVSLSFSSTQRPEAQQQLQQRSAAVTQPQLGAGPQLPGQISSAQVTSQHLLRESSVISTQGPKPMRSSQLMQSSGRSGS SLVSPFSSATAALPPSLNLTTPASTSQDASQCQPSPDFSHDRQLRLLLSQPIQPMMPGSCDARQPSEVSRTGRQVKYAQSQTVFQNPDAH PANSSSAPMPVLLMGQAVLHPSFPASQPSPLQPAQARQQPPQHYLQVQAPTSLHSEQQDSLLLSTYSQQPGTLGYPQPPPAQPQPLRPPR -------------------------------------------------------------- >83827_83827_6_SMAD6-NPAS2_SMAD6_chr15_67004062_ENST00000457357_NPAS2_chr2_101580519_ENST00000542504_length(amino acids)=916AA_BP=289 MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRDAVGQRGAQGAGRRRRAGGPP RPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRDASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLL KRLKERSLDTLLEAVESRGGVPGGCVLVPRADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLC GPESPPPPYSRLSPRDEYKPLVPSPSCNGFDNTLSRPCRVPLGKEVCFIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEWKFLFLDHRA PPIIGYLPFEVLGTSGYDYYHIDDLELLARCHQHLMQFGKGKSCCYRFLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHSVVSYADVRV ERRQELALEDPPSEALHSSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSHTAMSEPTSTPTKLMAEASTPALPRSATL PQELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQEELHKIQEQLCLVQ DSNVQMFLQQPAVSLSFSSTQRPEAQQQLQQRSAAVTQPQLGAGPQLPGQISSAQVTSQHLLRESSVISTQGPKPMRSSQLMQSSGRSGS SLVSPFSSATAALPPSLNLTTPASTSQDASQCQPSPDFSHDRQLRLLLSQPIQPMMPGSCDARQPSEVSRTGRQVKYAQSQTVFQNPDAH PANSSSAPMPVLLMGQAVLHPSFPASQPSPLQPAQARQQPPQHYLQVQAPTSLHSEQQDSLLLSTYSQQPGTLGYPQPPPAQPQPLRPPR -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr15:67004062/chr2:101580519) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | NPAS2 |
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. The NPAS2-ARNTL/BMAL1 heterodimer positively regulates the expression of MAOA, F7 and LDHA and modulates the circadian rhythm of daytime contrast sensitivity by regulating the rhythmic expression of adenylate cyclase type 1 (ADCY1) in the retina. NPAS2 plays an important role in sleep homeostasis and in maintaining circadian behaviors in normal light/dark and feeding conditions and in the effective synchronization of feeding behavior with scheduled food availability. Regulates the gene transcription of key metabolic pathways in the liver and is involved in DNA damage response by regulating several cell cycle and DNA repair genes. Controls the circadian rhythm of NR0B2 expression by binding rhythmically to its promoter (By similarity). Mediates the diurnal variation in the expression of GABARA1 receptor in the brain and contributes to the regulation of anxiety-like behaviors and GABAergic neurotransmission in the ventral striatum (By similarity). {ECO:0000250|UniProtKB:P97460, ECO:0000269|PubMed:11441146, ECO:0000269|PubMed:11441147, ECO:0000269|PubMed:14645221, ECO:0000269|PubMed:18439826, ECO:0000269|PubMed:18819933}. |
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- Retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000288840 | + | 2 | 4 | 165_168 | 291.3333333333333 | 497.0 | Compositional bias | Note=Poly-Leu |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000288840 | + | 2 | 4 | 251_254 | 291.3333333333333 | 497.0 | Compositional bias | Note=Poly-Ala |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000288840 | + | 2 | 4 | 25_33 | 291.3333333333333 | 497.0 | Compositional bias | Note=Poly-Gly |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000288840 | + | 2 | 4 | 275_278 | 291.3333333333333 | 497.0 | Compositional bias | Note=Poly-Pro |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000288840 | + | 2 | 4 | 82_85 | 291.3333333333333 | 497.0 | Compositional bias | Note=Poly-Arg |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000338426 | + | 2 | 4 | 25_33 | 30.333333333333332 | 236.0 | Compositional bias | Note=Poly-Gly |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000457357 | + | 2 | 4 | 165_168 | 291.3333333333333 | 339.0 | Compositional bias | Note=Poly-Leu |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000457357 | + | 2 | 4 | 251_254 | 291.3333333333333 | 339.0 | Compositional bias | Note=Poly-Ala |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000457357 | + | 2 | 4 | 25_33 | 291.3333333333333 | 339.0 | Compositional bias | Note=Poly-Gly |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000457357 | + | 2 | 4 | 275_278 | 291.3333333333333 | 339.0 | Compositional bias | Note=Poly-Pro |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000457357 | + | 2 | 4 | 82_85 | 291.3333333333333 | 339.0 | Compositional bias | Note=Poly-Arg |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000288840 | + | 2 | 4 | 148_275 | 291.3333333333333 | 497.0 | Domain | MH1 |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000457357 | + | 2 | 4 | 148_275 | 291.3333333333333 | 339.0 | Domain | MH1 |
Tgene | NPAS2 | chr15:67004062 | chr2:101580519 | ENST00000335681 | 6 | 21 | 237_307 | 199.33333333333334 | 825.0 | Domain | PAS 2 | |
Tgene | NPAS2 | chr15:67004062 | chr2:101580519 | ENST00000335681 | 6 | 21 | 311_354 | 199.33333333333334 | 825.0 | Domain | Note=PAC |
- Not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000338426 | + | 2 | 4 | 165_168 | 30.333333333333332 | 236.0 | Compositional bias | Note=Poly-Leu |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000338426 | + | 2 | 4 | 251_254 | 30.333333333333332 | 236.0 | Compositional bias | Note=Poly-Ala |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000338426 | + | 2 | 4 | 275_278 | 30.333333333333332 | 236.0 | Compositional bias | Note=Poly-Pro |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000338426 | + | 2 | 4 | 82_85 | 30.333333333333332 | 236.0 | Compositional bias | Note=Poly-Arg |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000288840 | + | 2 | 4 | 331_496 | 291.3333333333333 | 497.0 | Domain | MH2 |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000338426 | + | 2 | 4 | 148_275 | 30.333333333333332 | 236.0 | Domain | MH1 |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000338426 | + | 2 | 4 | 331_496 | 30.333333333333332 | 236.0 | Domain | MH2 |
Hgene | SMAD6 | chr15:67004062 | chr2:101580519 | ENST00000457357 | + | 2 | 4 | 331_496 | 291.3333333333333 | 339.0 | Domain | MH2 |
Tgene | NPAS2 | chr15:67004062 | chr2:101580519 | ENST00000335681 | 6 | 21 | 82_152 | 199.33333333333334 | 825.0 | Domain | PAS 1 | |
Tgene | NPAS2 | chr15:67004062 | chr2:101580519 | ENST00000335681 | 6 | 21 | 9_59 | 199.33333333333334 | 825.0 | Domain | bHLH | |
Tgene | NPAS2 | chr15:67004062 | chr2:101580519 | ENST00000335681 | 6 | 21 | 1_61 | 199.33333333333334 | 825.0 | Region | Sufficient for heterodimer formation with ARNTL/BMAL1%2C E-box binding and for the effect of NADPH |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
SMAD6 | |
NPAS2 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to SMAD6-NPAS2 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to SMAD6-NPAS2 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |