Human Disease Model Report: Costello syndrome

General Information

Name

Costello syndrome

FlyBase ID

FBhh0001345

Disease Ontology Term

Costello syndrome

Parent Disease

OMIM

COSTELLO SYNDROME; CSTLO

Overview

This report describes Costello syndrome (CSTLO); CSTLO exhibits autosomal dominant inheritance. The human gene implicated in this disease is HRAS, one of three closely related RAS proteins in human. The RAS proteins are GDP/GTP-binding proteins that act as intracellular signal transducers and are crucial players in many signaling networks affecting normal cell growth. There is a single high-scoring ortholog in Drosophila, Ras85D, for which classical amorphic and hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated. There are multiple other paralogous and orthologous genes in both species.

A UAS construct of the human Hsap\HRAS gene carrying a variant implicated in Costello syndrome has been introduced into flies. Variant(s) implicated in human disease tested (as transgenic human gene, HRAS): the G12S variant form has been introduced into flies. Experiments using this variant include assessments of pharmaceutical candidates.

See also the human disease model report 'cancer, multiple, RAS-related' (FBhh0000474).

[updated May 2021 by FlyBase; FBrf0222196]

Disease Summary Information

Disease Summary: Costello syndrome

OMIM report

[COSTELLO SYNDROME; CSTLO](https://omim.org/entry/218040)

Human gene(s) implicated

[HRAS PROTOONCOGENE, GTPase; HRAS](https://omim.org/entry/190020)

Symptoms and phenotype

Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse facies, short stature, distinctive hand posture and appearance, severe feeding difficulty, and failure to thrive. Other features include cardiac anomalies and developmental disability. Facial warts, particularly nasolabial, are often present in childhood (Kerr et al., 2006; pubmed:16443854). [from MIM:218040; 2021.05.08]

(OMIM, 2013-)

Genetics

Costello syndrome (CSTLO) is caused by heterozygous mutation in the HRAS gene. [from MIM:218040; 2021.05.08]

(OMIM, 2013-)

Cellular phenotype and pathology

Molecular information

The RAS proteins are members of a large superfamily of low-molecular-weight GTP-binding proteins. The RAS proteins control signaling pathways that are key regulators of several aspects of normal cell growth and malignant transformation. Three members of the RAS family, HRAS, KRAS and NRAS, are found to be activated by mutation in human tumors. These three members are very closely related, having 85% amino acid sequence identity (Downward, 2003; pubmed:12509763).

(FlyBase Curators, 2013-)

External links

Gene2Function (human gene): HRAS
Gene Cards: HRAS
MedlinePlus (condition): Costello syndrome
MedlinePlus (gene): HRAS
MARRVEL (human gene): HRAS
NCBI MedGen: Costello syndrome (CSTLO)
NCBI (Entrez) gene: HRAS; HRas proto-oncogene, GTPase

Disease synonyms

CMEMS

congenital myopathy with excess of muscle spindles

CSTLO

Related Diseases

Related human health report(s)

Ortholog Information

Human gene(s) in FlyBase

Human gene (HGNC)

Symbol / Name

HRAS; HRas proto-oncogene, GTPase

D. melanogaster ortholog (based on DIOPT)

Dmel\Ras85D

(DIOPT, 2013-)

Comments on ortholog(s)

Many to many: multiple paralogs and orthologs in both species.

Other mammalian ortholog(s) used

D. melanogaster Gene Information (1)

Dmel\Ras85D

Gene Snapshot

Ras oncogene at 85D (Ras85D) encodes a protein that acts downstream of several cell signals, most notably from Receptor Tyrosine Kinases, to regulate tissue growth and development. When abnormally activated it can direct developmental defects and tissue hyperplasia, mimicking aspects of human disease including Rasopathies and cancer, respectively. [Date last reviewed: 2019-03-14]

Molecular function (GO)

Cellular component (GO)

Gene Groups / Pathways

Comments on ortholog(s)

High-scoring ortholog of human genes KRAS, HRAS, and NRAS (many to many; multiple paralogs and orthologs in both species). Dmel\Ras85D shares 78-86% identity and 86-92% similarity with KRAS, HRAS, and NRAS; for these three human genes, Ras85D is the highest-scoring ortholog in Drosophila.

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Other Genes Used: Viral, Bacterial, Synthetic (0)

Summary of Physical Interactions (28 groups)

Ras85D

protein-protein

Interacting group

Assay

References

Ras85D - alt

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - Arc1

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - CG31550

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - cindr

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - cno

two hybrid, anti tag coimmunoprecipitation, autoradiography

(Boettner and Van Aelst, 2007, Carmena et al., 2006)

Ras85D - Droj2

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - eIF3i

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - glo

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - Gyc76C

anti tag coimmunoprecipitation, anti tag western blot

(Iwashita et al., 2020)

Ras85D - lark

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - mod(mdg4)

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - Nf1

gtpase assay, autoradiography

(Walker et al., 2006)

Ras85D - Nop60B

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - Pi3K92E

two hybrid, pull down, western blot

(Orme et al., 2006)

Ras85D - pico

two hybrid

(Lyulcheva et al., 2008)

Ras85D - Pyk

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - Raf

pull down, two hybrid, anti tag coimmunoprecipitation, anti tag western blot

(Yang and Terman, 2012, Ding et al., 2010, Mishra et al., 2005)

Ras85D - rau

pull down, anti tag western blot

(Sieglitz et al., 2013)

Ras85D - Rgl

two hybrid

(Mirey et al., 2003)

Ras85D - RpL6

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - RpL15

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - RpL21

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - RpL23A

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - RpL24

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - RpS2

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - RpS27

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Ras85D - spri

anti tag coimmunoprecipitation, anti tag western blot

(Jekely et al., 2005)

Ras85D - Sumo

anti tag coimmunoprecipitation, Identification by mass spectrometry, pull down, covalent binding, western blot

(Nie et al., 2009)

Alleles Reported to Model Human Disease (Disease Ontology) (25 alleles)

Ras85D

Models Based on Experimental Evidence ( 16 )

Allele

Disease

Evidence

References

Ras85D^HMS01294

model of Noonan syndrome 3

CEA

(Cattaneo et al., 2020)

Ras85D^G12V.UAS

model of cancer

CEA with RhoGEF2^RE.UAS

(Khoo et al., 2013)

CEA with Rok^CAT.UAS

(Khoo et al., 2013)

CEA with sqh^{E20E21.UAS.cCa}

(Khoo et al., 2013)

Ras85D^G13Q.UAS

model of cancer

CEA with Pten^HMS00044, Rbf^HMS03004

(Parkhitko et al., 2021)

Ras85D^N17.UAS

model of Noonan syndrome 3

CEA

(Cattaneo et al., 2020)

Ras85D^Q13.UAS

model of cancer

CEA

(Tamamouna et al., 2021)

Ras85D^V12.GMR

model of cancer

CEA

(Okada et al., 2023)

Ras85D^V12.S35.UAS

model of cardiomyopathy

CEA

(Yu et al., 2013)

model of carcinoma

CEC

(Karim and Rubin, 1998)

Ras85D^V12.UAS

model of carcinoma

CEA

(Martínez-Abarca Millán and Martín-Bermudo, 2023, Ito and Igaki, 2021, Kong et al., 2021, Rackley et al., 2021, Soler Beatty et al., 2021, Wei et al., 2021, Wu et al., 2021, Murcia et al., 2019, Zoranovic et al., 2018, Igaki et al., 2006)

CEA with dlg1^GD4689

(Santabárbara-Ruiz and Léopold, 2021)

CEA with l(2)gl⁴

(Ding et al., 2022, Singh et al., 2022, Ito and Igaki, 2021, Wu et al., 2021, Mishra-Gorur et al., 2019, Zhang et al., 2019, Srivastava et al., 2007, Igaki et al., 2006)

CEA with Lkb1^4A4-2

(Rackley et al., 2021)

CEA with scrib¹

(Kong et al., 2021, Mishra-Gorur et al., 2019, Srivastava et al., 2007, Igaki et al., 2006, Uhlirova and Bohmann, 2006)

CEA with dlg1¹⁴

(Ito and Igaki, 2021, Igaki et al., 2006)

CEA with shg^k03401

(Igaki et al., 2006)

CEA with scrib⁶⁷³

(Amcheslavsky et al., 2018)

CEA with msn³²⁰⁸

(Kong et al., 2021)

CEA with sna^UAS.cAa

(Wu et al., 2021)

CEA with scrib^KK101128

(Murcia et al., 2019)

CEC

(Karim and Rubin, 1998)

CEA with scrib^HMJ21977

(Snigdha et al., 2021)

model of cancer

CEA with fmt¹

(Ma et al., 2017)

CEA with PpV^Δ1

(Ma et al., 2017)

CEA with l(2)gl⁴

(Guo et al., 2020, Ma et al., 2017, Ma et al., 2013, Pagliarini and Xu, 2003)

CEA with PpV^GD7532

(Ma et al., 2017)

CEA

(Khalili et al., 2023, Martínez-Abarca Millán et al., 2023, Enomoto et al., 2021, Santabárbara-Ruiz and Léopold, 2021, Tamamouna et al., 2021, Ma et al., 2020, Jung et al., 2019, Rives-Quinto et al., 2017, Chabu and Xu, 2014, Hirabayashi et al., 2013, Ma et al., 2013)

CEA with scrib⁶⁷³

(Katheder et al., 2017)

CEA with scrib¹

(Cong et al., 2021, Hodgson et al., 2021, Katheder et al., 2017, Figueroa-Clarevega and Bilder, 2015, Külshammer et al., 2015, Willoughby et al., 2013, Wu et al., 2010, Pagliarini and Xu, 2003)

CEA with dlg1^GD4689

(Katheder et al., 2017, Muzzopappa et al., 2017, Figueroa-Clarevega and Bilder, 2015, Willecke et al., 2011)

CEA with Src64B^UAS.cCa

(Enomoto et al., 2021)

CEA with scrib^j7B3

(Pagliarini and Xu, 2003)

CEA with dlg1¹⁴

(Pagliarini and Xu, 2003)

CEA with baz⁴

(Pagliarini and Xu, 2003)

CEA with sdt^XN

(Pagliarini and Xu, 2003)

CEA with Cdc42¹

(Pagliarini and Xu, 2003)

CEA with dor^C107

(Chi et al., 2010)

CEA with dor⁸

(Chi et al., 2010)

CEA with dor^D185

(Chi et al., 2010)

CEA with car^RNAi.UAS

(Chi et al., 2010)

CEA with Vps16A^RNAi.UAS.WIZ

(Chi et al., 2010)

CEA with upd1^UAS.cUa

(Wu et al., 2010)

CEA with upd2^UAS.cUa

(Wu et al., 2010)

CEA with upd1^UAS.cUa, upd2^UAS.cUa, upd3^UAS.cUa

(Wu et al., 2010)

CEA with l(2)gl^unspecified

(Wu et al., 2010)

CEA with pnut^GD1512

(Gerlach et al., 2018)

CEA with Hsap\S100A4^wt.UAS

(Ismail et al., 2017)

CEA with scrib^RNAi.UAS.cUa

(Hodgson et al., 2021)

CEA with Csk^Q156Stop

(Hirabayashi et al., 2013)

CEA with scrib^KK101128

(Muzzopappa et al., 2017)

CEA with mud^JF02911

(Muzzopappa et al., 2017)

CEA with mud^HMS01458

(Muzzopappa et al., 2017)

CEA with N^RNAi.P.UAS

(Tamamouna et al., 2021)

CEA with emei^GD3587

(Ma et al., 2020)

CEA with Rox8^GD11645

(Guo et al., 2020)

CEA with BacA\p35^UAS.cHa

(Khalili et al., 2023)

CEA with dlg1^RNAi.UAS.cUa

(Bakopoulos et al., 2023)

model of intestinal cancer

CEA

(Cabrera et al., 2023, Nászai et al., 2021)

model of colorectal cancer

CEA

(Bangi et al., 2012)

model of leukemia

CEA

(Arefin et al., 2017)

CEA with l(2)gl^KK100777

(Arefin et al., 2017)

CEA with scrib^KK101128

(Arefin et al., 2017)

model of benign neoplasm

CEA with Alg9^c02021

(de Vreede et al., 2018)

DOES NOT model cancer

CEA with Hsap\S100A4^Δ2.UAS

(Ismail et al., 2017)

model of heart disease

CEA

(Karekar et al., 2021)

model of prostate cancer

CEA

(Rambur et al., 2020)

model of kidney cancer

CEA

(Zeng et al., 2010)

model of hypertrophic cardiomyopathy

CEA

(Petersen et al., 2022)

Ras85D^V12.ey

model of carcinoma

CEC

(Karim and Rubin, 1998)

Ras85D^V12.cUa.UAS

model of cervical cancer

CEA

(Padash Barmchi et al., 2016)

CEA with Hsap\UBE3A^UAS.cRa, HPV18\E6^UAS.Tag:MYC

(Padash Barmchi et al., 2016)

CEA with Hsap\UBE3A^UAS.cRa, HPV18\E6^{V158A.UAS.Tag:MYC}

(Padash Barmchi et al., 2016)

model of cancer

CEA with l(2)gl⁴

(Fangninou et al., 2023, Liu et al., 2022, Yang et al., 2022)

CEA with Ptp61F^Δ

(Liu et al., 2022)

CEA with Syx7³¹¹⁹

(Liu et al., 2022)

CEA with Rabex-5³⁶⁷²

(Liu et al., 2022)

CEA with Vps36²⁵⁸⁶

(Liu et al., 2022)

CEA with TSG101^P26

(Liu et al., 2022)

CEA with N^DN.UAS

(Lee et al., 2021)

CEA with dlg1^RNAi.UAS.cUa

(Lodge et al., 2021)

CEA

(Yang et al., 2022, Dong et al., 2021, Yeom et al., 2021, Dunn et al., 2018, Vicente et al., 2018)

CEA with scrib¹

(Yang et al., 2022, Khezri et al., 2021)

CEA with baz⁴

(Yang et al., 2022)

CEA with fmt¹

(Yang et al., 2022)

CEA with dlg1^GD4689

(Yang et al., 2022)

CEA with Ptip³⁸⁰⁴

(Dong et al., 2021)

model of colorectal cancer

CEA

(Zipper et al., 2022)

CEA with Pten^sgRNA.UAS

(Zipper et al., 2022)

CEA with Med^sgRNA.UAS

(Zipper et al., 2022)

CEA with cic^sgRNA.UAS

(Zipper et al., 2022)

CEA with Apc2^sgRNA.UAS

(Zipper et al., 2022)

CEA with Apc^sgRNA.UAS

(Zipper et al., 2022)

CEA with p53^sgRNA.UAS

(Zipper et al., 2022)

CEA with p53^VDRC.cUa, Pten^GD13500, Apc^VDRC.cUa, Med^VDRC.cUa

(Bangi et al., 2016)

CEA with p53^VDRC.cUa, Pten^GD13500, Apc^VDRC.cUa

(Bangi et al., 2016)

CEA with p53^VDRC.cUa, Apc^VDRC.cUa, Med^VDRC.cUa

(Bangi et al., 2016)

CEA with Pten^GD13500, Apc^VDRC.cUa, Med^VDRC.cUa

(Bangi et al., 2016)

model of cardiomyopathy

CEA

(Yu et al., 2013)

model of adenocarcinoma

CEA with l(2)gl^GD4047

(Casas-Tintó et al., 2016)

CEA with l(2)gl^GD4047, wupA^JF02172

(Casas-Tintó et al., 2016)

model of carcinoma

CEA with Scer\GAL4^nub.PU

(Hogan et al., 2009)

CEA with l(2)gl⁴

(Sun et al., 2019)

CEA with dlg1^HMS00172

(Toggweiler et al., 2016)

model of intestinal cancer

CEA with Apc^Q8

(Campbell et al., 2019)

CEA

(Kim et al., 2022, Singh et al., 2016)

CEA with Apc^GD1333, p53^GD4483

(Quintero and Bangi, 2023)

CEA with Apc^GD1333, Pten^RNAi.UAS.cUa, p53^GD4483

(Quintero and Bangi, 2023)

CEA with Apc^GD1333, Med^GD1483, p53^GD4483

(Quintero and Bangi, 2023)

model of high grade glioma

CEA with Pten^{RNAi.Exel.UAS}

(Gangwani et al., 2020)

CEA

(Liu et al., 2021)

model of brain cancer

CEA with dlg1^GD4689

(Manzanero-Ortiz et al., 2021)

CEA with l(2)gl^KK100777

(Manzanero-Ortiz et al., 2021)

CEA with wts^KK101055

(Manzanero-Ortiz et al., 2021)

CEA with scrib⁶⁷³

(Manzanero-Ortiz et al., 2021)

Ras85D^V152G.UASp

model of Noonan syndrome 3

CEA

(Cattaneo et al., 2020)

Ras85D^{G12V.UAS.Tag:FLAG,Tag:polyHis}

model of cancer

CEA

(Washington et al., 2020)

Ras85D^{Y4F.G12V.UAS.Tag:FLAG,Tag:polyHis}

model of cancer

CEA

(Washington et al., 2020)

Ras85D^V12.QUAS.cHa

model of cancer

CEA with scrib¹

(Hodgson et al., 2021)

Ras85D^V12.QUAS.cLa

model of cancer

CEA with scrib^{QUAS.HMS01490}

(Bakopoulos et al., 2023, Lodge et al., 2021)

Ras85D^{G12D.UAS.p53sh}

model of pancreatic ductal adenocarcinoma

CEA with CycE^{UAS.Tag:HA.Medsh}, Med^{RNAi.UAS.CycE-HA}, p53^{RNAi.UAS.RasG12D}

(Sekiya et al., 2023)

Modifiers Based on Experimental Evidence ( 17 )

Allele

Disease

Interaction

References

Ras85D^ΔC40B

ameliorates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

Ras85D⁰⁶⁶⁷⁷

ameliorates autosomal dominant cerebellar ataxia

modeled by Hsap\ATXN1^82Q.UAS

(Park et al., 2013)

ameliorates multiple endocrine neoplasia type 2B

modeled by Ret^MEN2B.GMR

(Read et al., 2005)

ameliorates multiple endocrine neoplasia type 2A

modeled by Ret^MEN2A.GMR

(Read et al., 2005)

ameliorates alveolar rhabdomyosarcoma

modeled by Hsap\FOXO1::Hsap\PAX7^UAS.cGa

(Galindo et al., 2006)

Ras85D^N17.UAS

ameliorates brain glioma

modeled by btl::Egfr^λ.UAS, Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}

(Read et al., 2009)

Ras85D^Q13.UAS

model of cancer

is ameliorated by Cat^UAS.cAa

(Tamamouna et al., 2021)

is ameliorated by Sod1^UAS.cAa

(Tamamouna et al., 2021)

is ameliorated by btl^DN.UAS

(Tamamouna et al., 2021)

Ras85D^V12.GMR

model of cancer

is ameliorated by InR^K1409A.UAS

(Okada et al., 2023)

is ameliorated by NetB^Δ

(Okada et al., 2023)

is ameliorated by NetB^KK103672

(Okada et al., 2023)

is ameliorated by NetB^VSH330183

(Okada et al., 2023)

is ameliorated by InR^GL00139

(Okada et al., 2023)

is ameliorated by InR^JF01183

(Okada et al., 2023)

is ameliorated by InR^JF01482

(Okada et al., 2023)

is ameliorated by unc-5^HMS01099

(Okada et al., 2023)

is ameliorated by unc-5^KK102074

(Okada et al., 2023)

is ameliorated by unc-5^MI04273

(Okada et al., 2023)

Ras85D^V12.UAS

model of carcinoma

is exacerbated by mys^RNAi.UAS.cUa

(Martínez-Abarca Millán and Martín-Bermudo, 2023)

is exacerbated by dap^HMS01610

(Ito and Igaki, 2021)

is exacerbated by dap^HMS05362

(Ito and Igaki, 2021)

is ameliorated by pnt^P1.UAS

(Ito and Igaki, 2021)

is exacerbated by hep^Act.UAS

(Uhlirova and Bohmann, 2006)

is exacerbated by egr^UAS.cIa

(Igaki et al., 2006)

is exacerbated by ZnT86D^KK101698

(Wei et al., 2021)

is exacerbated by msn¹⁷²

(Kong et al., 2021)

is exacerbated by msn³²⁰⁸

(Kong et al., 2021)

is exacerbated by l(2)gl⁴

(Wu et al., 2021)

is exacerbated by sna^UAS.cAa

(Wu et al., 2021)

is ameliorated by rl^GD4697

(Murcia et al., 2019)

is ameliorated by Raf^DN.UAS

(Zoranovic et al., 2018)

is exacerbated by Tsp29Fb^GD1018

(Zoranovic et al., 2018)

is ameliorated by Tsp29Fb^UAS.Tag:HA

(Zoranovic et al., 2018)

is ameliorated by Hsap\CDKN1A^UAS.cHa

(Karim and Rubin, 1998)

is ameliorated by Raf^XS-2541

(Karim and Rubin, 1998)

is exacerbated by rl^Sem

(Karim and Rubin, 1998)

is exacerbated by Egfrap^ΔSH2

(Soler Beatty et al., 2021)

is exacerbated by Egfrap^HMJ23378

(Soler Beatty et al., 2021)

is exacerbated by Egfrap^LS

(Soler Beatty et al., 2021)

is exacerbated by Egfrap^L

(Soler Beatty et al., 2021)

is exacerbated by PVRAP^HMJ23233

(Soler Beatty et al., 2021)

is ameliorated by HAdV-C\E4orf4^UAS.cPa

(Rosen et al., 2019)

is ameliorated by HAdV-C\E4orf4^UAS.cPb

(Rosen et al., 2019)

model of cancer

is ameliorated by Sec15^KK101708

(Chabu and Xu, 2014)

is ameliorated by Sec6^GD11616

(Chabu and Xu, 2014)

is ameliorated by Sec8^KK101531

(Chabu and Xu, 2014)

is ameliorated by Sec15¹

(Chabu and Xu, 2014)

is ameliorated by Sec15^GD12109

(Chabu and Xu, 2014)

is ameliorated by Src64B^GD12263

(Ma et al., 2013)

is ameliorated by chinmo¹

(Enomoto et al., 2021)

is exacerbated by PVRAP¹

(Martínez-Abarca Millán et al., 2023)

is exacerbated by PVRAP^HMJ23233

(Martínez-Abarca Millán et al., 2023)

is exacerbated by by^33c

(Martínez-Abarca Millán et al., 2023)

is exacerbated by by^VSH330366

(Martínez-Abarca Millán et al., 2023)

is exacerbated by Csk^Q156Stop

(Hirabayashi et al., 2013)

is exacerbated by emei¹

(Ma et al., 2020)

is exacerbated by emei²

(Ma et al., 2020)

is exacerbated by emei³

(Ma et al., 2020)

is ameliorated by Arc1^esm18

(Khalili et al., 2023)

is exacerbated by Nek2^UAS.GFP

(Das et al., 2013)

model of intestinal cancer

is ameliorated by shg^HMS00693

(Cabrera et al., 2023)

is ameliorated by Cortactin^HMS00658

(Cabrera et al., 2023)

is ameliorated by Cortactin^KK108594

(Cabrera et al., 2023)

is ameliorated by shg^JF02769

(Cabrera et al., 2023)

exacerbates alveolar rhabdomyosarcoma

modeled by Hsap\FOXO1::Hsap\PAX7^UAS.cGa

(Galindo et al., 2006)

exacerbates gastrointestinal system cancer

modeled by Apc2^g10, Apc^Q8

(Wang et al., 2013)

model of colorectal cancer

is ameliorated by Timp^UAS.cPa

(Bangi et al., 2012)

is ameliorated by bsk^DN.UAS

(Bangi et al., 2012)

is ameliorated by bsk^HMS00777

(Bangi et al., 2012)

is exacerbated by hep^Act.UAS

(Bangi et al., 2012)

is exacerbated by imd^UAS.cGa

(Bangi et al., 2012)

is ameliorated by Jra^NIG.2275R

(Bangi et al., 2012)

ameliorates cancer

modeled by dlg1^A40.2

(Parisi et al., 2014)

exacerbates carcinoma

modeled by scrib¹

(Brumby and Richardson, 2003)

modeled by arm^UAS.Exel

(Zhang et al., 2019)

model of prostate cancer

is ameliorated by Egfr^GD1654

(Rambur et al., 2020)

is ameliorated by Pi3K92E^HMC05152

(Rambur et al., 2020)

is ameliorated by mTor^GL00156

(Rambur et al., 2020)

is ameliorated by rl^HMS00173

(Rambur et al., 2020)

is ameliorated by spi^HMS01120

(Rambur et al., 2020)

exacerbates intestinal cancer

modeled by Rab11^KK108297

(Nie et al., 2019)

exacerbates cancer

modeled by Hipk^UAS.Tag:HA

(Blaquiere et al., 2018)

model of kidney cancer

is ameliorated by Pka-C1^B3

(Zeng et al., 2010)

is ameliorated by mTor^ΔP

(Zeng et al., 2010)

exacerbates Alzheimer's disease 1

modeled by Hsap\APP^{Aβ42.UAS.cUa}

(Cheng et al., 2021)

Ras85D^V12.ey

model of carcinoma

is ameliorated by Raf^XS-2541

(Karim and Rubin, 1998)

Ras85D^e1B

ameliorates alveolar rhabdomyosarcoma

modeled by Hsap\FOXO1::Hsap\PAX7^UAS.cGa

(Galindo et al., 2006)

exacerbates viral infectious disease

modeled by EBV\BZLF1^GMR.PA

(Adamson and Lajeunesse, 2012)

exacerbates infectious mononucleosis

modeled by EBV\BZLF1^GMR.PA

(Adamson and Lajeunesse, 2012)

exacerbates Epstein-Barr virus hepatitis

modeled by EBV\BZLF1^GMR.PA

(Adamson and Lajeunesse, 2012)

ameliorates gastrointestinal system cancer

modeled by Apc2^g10, Apc^Q8

(Wang et al., 2013)

exacerbates tuberous sclerosis

modeled by Tsc1^UAS.cTa, gig^UAS.cTa

(Tapon et al., 2001)

ameliorates cancer

modeled by Alk^UAS.cLa

(Wolfstetter et al., 2020)

Ras85D^e2F

ameliorates alveolar rhabdomyosarcoma

modeled by Hsap\FOXO1::Hsap\PAX7^UAS.cGa

(Galindo et al., 2006)

Ras85D^unspecified

ameliorates neurofibromatosis

modeled by Nf1^E2

(Walker et al., 2006)

Ras85D^V12.cUa.UAS

model of cancer

is exacerbated by ex^e1

(Liu et al., 2022)

is exacerbated by Ptp61F^Δ

(Liu et al., 2022)

is exacerbated by Not3^KK102144

(Vicente et al., 2018)

is exacerbated by M6^W186stop

(Dunn et al., 2018)

is ameliorated by Ptip³⁸⁰⁴

(Dong et al., 2021)

is exacerbated by p53^UAS.cUa

(Dong et al., 2021)

is ameliorated by Ilp8^MI00727

(Yeom et al., 2021)

model of intestinal cancer

is ameliorated by Cortactin^HMS00658

(Kim et al., 2022)

model of high grade glioma

is ameliorated by Dcp-1^RNAi.UAS.cUa

(Liu et al., 2021)

is exacerbated by Nmnat^UAS.PC

(Liu et al., 2021)

is ameliorated by Nmnat^RNAi.UAS.cUa

(Liu et al., 2021)

Ras85D^GD12553

ameliorates colorectal cancer

modeled by Src42A^CA.UAS

(Cordero et al., 2014)

modeled by Src64B^UAS.cCa

(Cordero et al., 2014)

ameliorates neurofibromatosis

modeled by Nf1^JF01866

(Georganta et al., 2021)

Ras85D^KK108029

ameliorates colorectal cancer

modeled by Src42A^CA.UAS

(Cordero et al., 2014)

modeled by Src64B^UAS.cCa

(Cordero et al., 2014)

ameliorates intestinal cancer

modeled by Egfr^UAS.cBa

(Nászai et al., 2021)

Ras85D^JF02478

ameliorates colorectal cancer

modeled by SH3PX1^HMJ21552

(Zhang et al., 2019)

Ras85D^{G12V.UAS.Tag:FLAG,Tag:polyHis}

model of cancer

is exacerbated by Egfr^2.UAS

(Washington et al., 2020)

is ameliorated by Rabex-5^{DPYT.UAS.Tag:MYC}

(Washington et al., 2020)

is exacerbated by hop^JF01267

(Washington et al., 2020)

Ras85D^{Y4F.G12V.UAS.Tag:FLAG,Tag:polyHis}

model of cancer

is exacerbated by Egfr^2.UAS

(Washington et al., 2020)

is ameliorated by Rabex-5^{DPYT.UAS.Tag:MYC}

(Washington et al., 2020)

Ras85D^DN.UAS.cUa

ameliorates Alzheimer's disease 1

modeled by Hsap\APP^{Aβ42.UAS.cUa}

(Cheng et al., 2021)

Alleles Representing Disease-Implicated Variants

Genetic Tools, Stocks and Reagents

Sources of Stocks

Contact lab of origin for a reagent not available from a public stock center.

Bloomington Stock Center Disease Page

Related mammalian, viral, bacterial, or synthetic transgenes

Allele

Transgene

Publicly Available Stocks

Selected Drosophila transgenes

Allele

Transgene

Publicly Available Stocks

Ras85D^V152G.UASp

P{UASp-Ras85D.V152G}

Ras85D^{G12V.UAS.Tag:FLAG,Tag:polyHis}

P{UAS-FH-Ras85D.G12V}

Ras85D^{Y4F.G12V.UAS.Tag:FLAG,Tag:polyHis}

P{UAS-FH-Ras85D.Y4F.G12V}

Ras85D^V12.QUAS.cHa

P{QUAS-Ras85D.V12.H}

Ras85D^V12.QUAS.cLa

PBac{QUAS-Ras85D.V12.L}

Ras85D^DN.UAS.cUa

P{UAS-Ras85D.DN.U}

Ras85D^{G12D.UAS.p53sh}

P{UAS-Ras85D(G12D).UAS-p53(shRNA)}

Ras85D^V12.UAS

P{UAS-Ras85D.V12}

w¹¹¹⁸; P{UAS-Ras85D.V12}TL1

Ras85D^N17.UAS

P{UAS-Ras85D.N17}

P{UAS-Ras85D.N17}TL1, w¹¹¹⁸

P{UAS-Ras85D.V12.S35}

RNAi constructs available

Allele

Transgene

Publicly Available Stocks

Ras85D^GD12553

P{GD12553}

w¹¹¹⁸; P{GD12553}v28129

y¹ v¹; P{TRiP.JF02478}attP2

y¹ sc^* v¹ sev²¹; P{TRiP.HMS01294}attP2

Ras85D^GL00336

P{TRiP.GL00336}

y¹ sc^* v¹ sev²¹; P{TRiP.GL00336}attP2/TM3, Sb¹

Selected Drosophila classical alleles

Allele

Allele class

Mutagen

Publicly Available Stocks

Ras85D⁰⁶⁶⁷⁷

P-element activity

P{PZ}Ras85D⁰⁶⁶⁷⁷ ry⁵⁰⁶/TM3, ry^RK Sb¹ Ser¹

Ras85D^e2F

sev¹⁴; Ras85D^e2F/TM3, Sb¹

Ras85D^e1B

ethyl methanesulfonate

sev¹⁴; Ras85D^e1B/TM3, Sb¹

Ras85D^unspecified

Ras85D^ΔC40B

loss of function allele

Ras85D^x7b

loss of function allele

P-element activity

Ras85D^Δ17b

amorphic allele - genetic evidence

References (5)

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