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Protein Deregulation

MedGen UID:: 308070
•Concept ID:: C1514542
•: Cell or Molecular Dysfunction

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVProtein Deregulation

Molecular Abnormality
- Molecular Sequence Variation
  - Molecular Genetic Variation
    - Gene Abnormality
      - Deregulation of Protein and Messenger RNA Expression
        Protein Deregulation
        ALK Kinase Overexpression
        C-abl and ARG Tyrosine Kinase Protein Overexpression
        C-KIT Tyrosine Kinase Protein Overexpression
        CCND1 Protein Overexpression
        CCND2 Protein Overexpression
        CCND3 Protein Overexpression
        Cyclin E Protein Overexpression
        Cytoplasmic Nucleophosmin Expression
        EGFR Protein Overexpression
        EGFR Protein Translocation
        EPHA2 Protein Overexpression
        ERBB2 Protein Overexpression
        FOSL1 Protein Overexpression
        Fusion Protein Expression
        ALK Fusion Protein Expression
        ALO17-ALK Fusion Protein Expression
        ATIC-ALK Fusion Protein Expression
        CLTC-ALK Fusion Protein Expression
        MSN-ALK Fusion Protein Expression
        MYH9-ALK Fusion Protein Expression
        NPM-ALK Fusion Protein Expression
        TFG-ALK Fusion Protein Expression
        TPM3-ALK Fusion Protein Expression
        TPM4-ALK Fusion Protein Expression
        AML1-ETO Fusion Protein Expression
        API2-MLT Fusion Protein Expression
        ASPL-TFE3 Fusion Protein Expression
        BCOR-CCNB3 Fusion Protein Expression
        BCR-ABL1 Fusion Protein Expression
        p190 Fusion Protein Expression
        p210 Fusion Protein Expression
        p230 Fusion Protein Expression
        BCR-FGFR1 Fusion Protein Expression
        BCR-JAK2 Fusion Protein Expression
        BCR-PDGFRAlpha Fusion Protein Expression
        BRD4-NUT Fusion Protein Expression
        CBFB-MYH11 Fusion Protein Expression
        CIC-DUX4 Fusion Protein Expression
        CIC-DUX4L Fusion Protein Expression
        COL1A1-PDGFbeta Fusion Protein Expression
        COL1A2-PLAG1 Fusion Protein Expression
        CRTC1-MAML2 Fusion Protein Expression
        DEK-NUP214 Fusion Protein Expression
        ETV6-ABL1 Fusion Protein Expression
        ETV6-JAK2 Fusion Protein Expression
        ETV6-NTRK3 Fusion Protein Expression
        ETV6-PDGFRB Fusion Protein Expression
        ETV6-RUNX1 Fusion Protein Expression
        EWSR1-ATF1 Fusion Protein Expression
        EWSR1-CREB1 Fusion Protein Expression
        EWSR1-DDIT3 Fusion Protein Expression
        EWSR1-ERG Fusion Protein Expression
        EWSR1-ETV1 Fusion Protein Expression
        EWSR1-ETV4 Fusion Protein Expression
        EWSR1-FEV Fusion Protein Expression
        EWSR1-FLI1 Fusion Protein Expression
        EWSR1-NFATC2 Fusion Protein Expression
        EWSR1-NR4A3 Fusion Protein Expression
        EWSR1-PATZ1 Fusion Protein Expression
        EWSR1-WT1 Fusion Protein Expression
        FIP1L1-PDGFRalpha Fusion Protein Expression
        FN1-FGF1 Fusion Protein Expression
        FN1-FGFR1 Fusion Protein Expression
        FUS-ATF1 Fusion Protein Expression
        FUS-CREB3L1 Fusion Protein Expression
        FUS-CREB3L2 Fusion Protein Expression
        FUS-DDIT3 Fusion Protein Expression
        FUS-ERG Fusion Protein Expression
        FUS-NFATC2 Fusion Protein Expression
        HAS2-PLAG1 Fusion Protein Expression
        HMGA2-LPP Fusion Protein Expression
        JAZF1-SUZ12 Fusion Protein Expression
        KMT2A-AFF1 Fusion Protein Expression
        KMT2A-EEN Fusion Protein Expression
        KMT2A-ELL Fusion Protein Expression
        KMT2A-MLLT1 Fusion Protein Expression
        KMT2A-MLLT10 Fusion Protein Expression
        MECOM-RUNX1 Fusion Protein Expression
        MLLT3-KMT2A Fusion Protein Expression
        MOZ-V Fusion Protein Expression
        NONO-TFE3 Fusion Protein Expression
        NPM1-RARA Fusion Protein Expression
        NUMA1-RARA Fusion Protein Expression
        PAX3-FOXO1 Fusion Protein Expression
        PAX3-FOXO4 Fusion Protein Expression
        PAX3-NCOA1 Fusion Protein Expression
        PAX7-FOXO1 Fusion Protein Expression
        PCM1-JAK2 Fusion Protein Expression
        PML-RARA Fusion Protein Expression
        PRCC-TFE3 Fusion Protein Expression
        PSF-TFE3 Fusion Protein Expression
        RBM15-MKL1 Fusion Protein Expression
        SS18-SSX Fusion Protein Expression
        SS18-SSX1 Fusion Protein Expression
        SS18-SSX2 Fusion Protein Expression
        SS18-SSX4 Fusion Protein Expression
        SS18L1-SSX1 Fusion Protein Expression
        STAT5B-RARA Fusion Protein Expression
        TAF15-NR4A3 Fusion Protein Expression
        TCF12-NR4A3 Fusion Protein Expression
        TCF3-PBX1 Fusion Protein Expression
        TFG-NR4A3 Fusion Protein Expression
        TMPRSS2-ERG Fusion Protein Expression
        V-MLL Fusion Protein Expression
        WWTR1-CAMTA1 Fusion Protein Expression
        YWHAE-FAM22 Fusion Protein Expression
        ZBTB16-RARA Fusion Protein Expression
        ZFTA-MRTFB Fusion Protein Expression
        ZFTA-RELA Fusion Protein Expression
        Loss of BAF250a Expression
        Loss of E-cadherin Expression
        Loss of EPCAM Expression
        Loss of FH Expression
        Loss of Merlin Expression
        Loss of MLH1 Expression
        Loss of MSH2 Expression
        Loss of MSH3 Expression
        Loss of MSH6 Expression
        Loss of PMS2 Expression
        Loss of SDH Expression
        Loss of Serine-Protein Kinase ATM Expression
        MYC Protein Overexpression
        PDGFR Protein Overexpression
        PDGFRalpha Protein Overexpression
        TFEB Protein Overexpression

Professional guidelines

PubMed

The Urinary Glycopeptide Profile Differentiates Early Cardiorenal Risk in Subjects Not Meeting Criteria for Chronic Kidney Disease.

Santiago-Hernandez A, Martin-Lorenzo M, Gómez-Serrano M, Lopez JA, Martin-Blazquez A, Vellosillo P, Minguez P, Martinez PJ, Vázquez J, Ruiz-Hurtado G, Barderas MG, Sarafidis P, Segura J, Ruilope LM, Alvarez-Llamas G
Int J Mol Sci 2024 Jun 26;25(13) doi: 10.3390/ijms25137005. PMID: 39000114 Free PMC Article

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Recent clinical studies

Etiology

The Urinary Glycopeptide Profile Differentiates Early Cardiorenal Risk in Subjects Not Meeting Criteria for Chronic Kidney Disease.

Recognition of Recurrent Protein Expression Patterns in Pediatric Acute Myeloid Leukemia Identified New Therapeutic Targets.

Hoff FW, Hu CW, Qiu Y, Ligeralde A, Yoo SY, Mahmud H, de Bont ESJM, Qutub AA, Horton TM, Kornblau SM
Mol Cancer Res 2018 Aug;16(8):1275-1286. Epub 2018 Apr 18 doi: 10.1158/1541-7786.MCR-17-0731. PMID: 29669821 Free PMC Article

Protein deregulation associated with breast cancer metastasis.

Chan KK, Matchett KB, McEnhill PM, Dakir el H, McMullin MF, El-Tanani Y, Patterson L, Faheem A, Rudland PS, McCarron PA, El-Tanani M
Cytokine Growth Factor Rev 2015 Aug;26(4):415-23. Epub 2015 May 31 doi: 10.1016/j.cytogfr.2015.05.002. PMID: 26088937

Identification of functional modules by integration of multiple data sources using a Bayesian network classifier.

Wang J, Zuo Y, Liu L, Man Y, Tadesse MG, Ressom HW
Circ Cardiovasc Genet 2014 Apr;7(2):206-17. doi: 10.1161/CIRCGENETICS.113.000087. PMID: 24736851 Free PMC Article

Impact of cyclin D1 A870G polymorphism in esophageal adenocarcinoma tumorigenesis.

Izzo JG, Malhotra U, Wu TT, Ensor J, Babenko IM, Swisher SG, Correa A, Bresalier RS, Hittelman WN, Ajani JA
Semin Oncol 2005 Dec;32(6 Suppl 9):S11-5. doi: 10.1053/j.seminoncol.2005.04.023. PMID: 16399423

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Diagnosis

The Urinary Glycopeptide Profile Differentiates Early Cardiorenal Risk in Subjects Not Meeting Criteria for Chronic Kidney Disease.

Resistance to abemaciclib is associated with increased metastatic potential and lysosomal protein deregulation in breast cancer cells.

Scheidemann ER, Demas DM, Hou C, Ma J, He W, Sharma G, Schultz E, Weilbaecher KN, Shajahan-Haq AN
Mol Carcinog 2024 Feb;63(2):209-223. Epub 2023 Oct 11 doi: 10.1002/mc.23646. PMID: 37818798

Upregulated claudin-1 expression promotes colitis-associated cancer by promoting β-catenin phosphorylation and activation in Notch/p-AKT-dependent manner.

Gowrikumar S, Ahmad R, Uppada SB, Washington MK, Shi C, Singh AB, Dhawan P
Oncogene 2019 Jun;38(26):5321-5337. Epub 2019 Apr 10 doi: 10.1038/s41388-019-0795-5. PMID: 30971761 Free PMC Article

A Quantitative Approach to Screen for Nephrotoxic Compounds In Vitro.

Adler M, Ramm S, Hafner M, Muhlich JL, Gottwald EM, Weber E, Jaklic A, Ajay AK, Svoboda D, Auerbach S, Kelly EJ, Himmelfarb J, Vaidya VS
J Am Soc Nephrol 2016 Apr;27(4):1015-28. Epub 2015 Aug 10 doi: 10.1681/ASN.2015010060. PMID: 26260164 Free PMC Article

MYC and aggressive B-cell lymphomas.

Slack GW, Gascoyne RD
Adv Anat Pathol 2011 May;18(3):219-28. doi: 10.1097/PAP.0b013e3182169948. PMID: 21490439

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Prognosis

Structural localization of pathogenic mutations in the central nucleotide-binding domain (NBD) of nucleotide-binding oligomerization domain-2 (NOD2) protein and their inference in inflammatory disorders.

P R, Ramireddy S, Chakraborty S, Mukherjee S, J S, C S
Nucleosides Nucleotides Nucleic Acids 2021;40(12):1198-1219. Epub 2021 Oct 8 doi: 10.1080/15257770.2021.1986719. PMID: 34622739

Upregulated claudin-1 expression promotes colitis-associated cancer by promoting β-catenin phosphorylation and activation in Notch/p-AKT-dependent manner.

Gowrikumar S, Ahmad R, Uppada SB, Washington MK, Shi C, Singh AB, Dhawan P
Oncogene 2019 Jun;38(26):5321-5337. Epub 2019 Apr 10 doi: 10.1038/s41388-019-0795-5. PMID: 30971761 Free PMC Article

A Quantitative Approach to Screen for Nephrotoxic Compounds In Vitro.

MYC and aggressive B-cell lymphomas.

Slack GW, Gascoyne RD
Adv Anat Pathol 2011 May;18(3):219-28. doi: 10.1097/PAP.0b013e3182169948. PMID: 21490439

Probabilistic model of the human protein-protein interaction network.

Rhodes DR, Tomlins SA, Varambally S, Mahavisno V, Barrette T, Kalyana-Sundaram S, Ghosh D, Pandey A, Chinnaiyan AM
Nat Biotechnol 2005 Aug;23(8):951-9. doi: 10.1038/nbt1103. PMID: 16082366

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Clinical prediction guides

P R, Ramireddy S, Chakraborty S, Mukherjee S, J S, C S
Nucleosides Nucleotides Nucleic Acids 2021;40(12):1198-1219. Epub 2021 Oct 8 doi: 10.1080/15257770.2021.1986719. PMID: 34622739

Impact of USP8 Gene Mutations on Protein Deregulation in Cushing Disease.

Weigand I, Knobloch L, Flitsch J, Saeger W, Monoranu CM, Höfner K, Herterich S, Rotermund R, Ronchi CL, Buchfelder M, Glatzel M, Hagel C, Fassnacht M, Deutschbein T, Sbiera S
J Clin Endocrinol Metab 2019 Jul 1;104(7):2535-2546. doi: 10.1210/jc.2018-02564. PMID: 30844069

Topoisomerase I deregulation in laryngeal squamous cell carcinomas based on tissue microarray analysis.

Papadas TA, Tsiambas E, Mastronikolis NS, Karameris A, Mastronikolis SN, Papadas AT, Fotiades PP, Ragos V
J BUON 2017 May-Jun;22(3):771-776. PMID: 28730788

A Quantitative Approach to Screen for Nephrotoxic Compounds In Vitro.

Probabilistic model of the human protein-protein interaction network.

Rhodes DR, Tomlins SA, Varambally S, Mahavisno V, Barrette T, Kalyana-Sundaram S, Ghosh D, Pandey A, Chinnaiyan AM
Nat Biotechnol 2005 Aug;23(8):951-9. doi: 10.1038/nbt1103. PMID: 16082366

See all (9)

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Protein Deregulation

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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