FlyBase Gene Report: Dmel\mgl

General Information

Symbol

Dmel\mgl

Species

D. melanogaster

Name

Megalin

Annotation Symbol

CG42611

Feature Type

protein_coding_gene

FlyBase ID

FBgn0261260

Gene Model Status

Current

Stock Availability

25 publicly available

Gene Summary

Megalin (mgl) encodes a protein involved in cuticle development and endocytosis regulation. [Date last reviewed: 2019-09-26] (FlyBase Gene Snapshot)

All Summaries

Key Links

Genomic Location

Cytogenetic map

8D9-8E4

Sequence location

X:9,358,496..9,500,129 [-]

Recombination map

1-28

RefSeq locus

NC_004354 REGION:9358496..9500129

Sequence

Get Decorated FASTA

Genomic Maps

JBrowse

Other Genome Views

The following external sites may use different assemblies or annotations than FlyBase.

Function

Gene Ontology (GO) Annotations (10 terms)

Molecular Function (2 terms)

Terms Based on Experimental Evidence (0 terms)

Terms Based on Predictions or Assertions (2 terms)

CV Term

Evidence

References

enables calcium ion binding

inferred from electronic annotation with InterPro:IPR001881, InterPro:IPR018097

(InterPro Project Members, 2004-)

enables hormone binding

inferred from biological aspect of ancestor with PANTHER:PTN008580772

(GO Reference Genome Project, 2011-)

Biological Process (4 terms)

Terms Based on Experimental Evidence (3 terms)

CV Term

Evidence

References

involved_in chitin-based cuticle development

inferred from mutant phenotype

(Riedel et al., 2011)

involved_in regulation of adult chitin-containing cuticle pigmentation

inferred from mutant phenotype

(Riedel et al., 2011)

involved_in regulation of endocytosis

inferred from mutant phenotype

(Riedel et al., 2011)

Terms Based on Predictions or Assertions (1 term)

CV Term

Evidence

References

involved_in receptor-mediated endocytosis

inferred from biological aspect of ancestor with PANTHER:PTN008580772

(GO Reference Genome Project, 2011-)

Cellular Component (4 terms)

Terms Based on Experimental Evidence (3 terms)

CV Term

Evidence

References

located_in apical plasma membrane

inferred from direct assay

(Riedel et al., 2011)

located_in cytosol

inferred from high throughput direct assay

(Lye et al., 2014)

located_in plasma membrane

inferred from high throughput direct assay

(Tan et al., 2009)

Terms Based on Predictions or Assertions (3 terms)

CV Term

Evidence

References

is_active_in apical plasma membrane

inferred from biological aspect of ancestor with PANTHER:PTN008580772

(GO Reference Genome Project, 2011-)

is_active_in plasma membrane

inferred from biological aspect of ancestor with PANTHER:PTN008580766

(GO Reference Genome Project, 2011-)

part_of receptor complex

inferred from biological aspect of ancestor with PANTHER:PTN008580766

(GO Reference Genome Project, 2011-)

Gene Group (FlyBase)

Protein Family (UniProt)

Protein Signatures (InterPro)

Summaries

Gene Snapshot

Megalin (mgl) encodes a protein involved in cuticle development and endocytosis regulation. [Date last reviewed: 2019-09-26]

Gene Model and Products

Number of Transcripts

Number of Unique Polypeptides

Please see the JBrowse view of Dmel\mgl for information on other features

To submit a correction to a gene model please use the Contact FlyBase form

Protein Domains (via Pfam)

Isoform displayed:

Pfam protein domains

InterPro name

classification

start

end

Protein Domains (via SMART)

Isoform displayed:

SMART protein domains

InterPro name

classification

start

end

Structure

Protein 3D structure (Predicted by AlphaFold) (AlphaFold entry A8JTM7)

If you don't see a structure in the viewer, refresh your browser.

Model Confidence:

Very high (pLDDT > 90)
Confident (90 > pLDDT > 70)
Low (70 > pLDDT > 50)
Very low (pLDDT < 50)

AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Some regions with low pLDDT may be unstructured in isolation.

Experimentally Determined Structures

Crossreferences

Comments on Gene Model

Annotated transcripts do not represent all supported alternative splices within 5' UTR.

Low-frequency RNA-Seq exon junction(s) not annotated.

Gene model reviewed during 5.52

Transcript Data

Annotated Transcripts

Name

FlyBase ID

RefSeq ID

Length (nt)

Assoc. CDS (aa)

mgl-RA

FBtr0302153

NM_001103454

15259

4769

mgl-RC

FBtr0343369

NM_001298124

16625

4769

mgl-RD

FBtr0343370

NM_001298125

15850

4769

mgl-RE

FBtr0343371

NM_132335

15229

4769

Additional Transcript Data and Comments

Reported size (kB)

Comments

External Data

Crossreferences

Polypeptide Data

Annotated Polypeptides

Name

FlyBase ID

Predicted MW (kDa)

Length (aa)

Theoretical pI

UniProt

RefSeq ID

GenBank

mgl-PA

FBpp0291363

530.2

4769

5.24

FBpp0310026

530.2

4769

5.24

FBpp0310027

530.2

4769

5.24

FBpp0310028

530.2

4769

5.24

A8JTM7

NP_572563

AAF46494

Polypeptides with Identical Sequences

The group(s) of polypeptides indicated below share identical sequence to each other.

4769 aa isoforms: mgl-PA, mgl-PC, mgl-PD, mgl-PE

Additional Polypeptide Data and Comments

Reported size (kDa)

Comments

External Data

Crossreferences

InterPro - A database of protein families, domains and functional sites

Linkouts

Sequences Consistent with the Gene Model

Mapped Features

Click to get a list of regulatory features (enhancers, TFBS, etc.) and gene disruptions (point mutations, indels, etc.) within or overlapping Dmel\mgl using the Feature Mapper tool.

External Data

Crossreferences

Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.

Linkouts

Expression Data

Testis-specificity index

The testis specificity index was calculated from modENCODE tissue expression data by Vedelek et al., 2018 to indicate the degree of testis enrichment compared to other tissues. Scores range from -2.52 (underrepresented) to 5.2 (very high testis bias).

-0.81

Transcript Expression

in situ

Stage

Tissue/Position (including subcellular localization)

Reference

embryonic stage 4 -- 6

yolk nucleus

(Fisher et al., 2012)

embryonic stage 7 -- 8

amnioserosa anlage

(Fisher et al., 2012)

clypeo-labral anlage

(Fisher et al., 2012)

dorsal ectoderm

(Fisher et al., 2012)

ventral ectoderm

(Fisher et al., 2012)

embryonic stage 9 -- 10

amnioserosa primordium

(Fisher et al., 2012)

clypeo-labral primordium

(Fisher et al., 2012)

dorsal ectoderm

(Fisher et al., 2012)

inclusive hindgut primordium

(Fisher et al., 2012)

ventral ectoderm

(Fisher et al., 2012)

embryonic stage 11 -- 12

amnioserosa

(Fisher et al., 2012)

clypeo-labral primordium

(Fisher et al., 2012)

dorsal epidermis primordium

(Fisher et al., 2012)

foregut primordium

(Fisher et al., 2012)

hindgut proper primordium

(Fisher et al., 2012)

Malpighian tubule primordium

(Fisher et al., 2012)

ventral epidermis primordium

(Fisher et al., 2012)

Additional Descriptive Data

Marker for

Subcellular Localization

CV Term

Polypeptide Expression

immunolocalization

Stage

Tissue/Position (including subcellular localization)

Reference

embryonic stage

ectoderm

Comment: cuticle-secreting

(Riedel et al., 2011)

larval stage

ectoderm

Comment: cuticle-secreting

(Riedel et al., 2011)

imaginal disc epithelial cell

(Riedel et al., 2011)

mass spectroscopy

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage

adult head

• membrane

(Aradska et al., 2015)

day 5 of adulthood | male -- day 7 of adulthood | male

spermatozoon

(Wasbrough et al., 2010)

Additional Descriptive Data

mgl is expressed throughout the cuticle-secreting ectoderm during embryogenesis and in imaginal discs. In embryos, levels are highest in cells that produce pigmented structures such as denticles and mouth hooks.

(Riedel et al., 2011)

Marker for

Subcellular Localization

CV Term

Evidence

References

located_in apical plasma membrane

inferred from direct assay

(Riedel et al., 2011)

located_in cytosol

inferred from high throughput direct assay

(Lye et al., 2014)

located_in plasma membrane

inferred from high throughput direct assay

(Tan et al., 2009)

Expression Deduced from Reporters

Reporter: PBac{602.P.SVS-1}mgl^CPTI000016

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage

adult brain cell body rind

(Knowles-Barley, 2011.8.24)

Reporter: PBac{602.P.SVS-1}mgl^CPTI000943

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage

adult brain cell body rind

(Knowles-Barley, 2011.8.24)

Reporter: PBac{681.P.FSVS-1}mgl^CPTI001282

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage

adult brain cell body rind

(Knowles-Barley, 2011.8.24)

Reporter: PBac{681.P.FSVS-1}mgl^CPTI001334

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage

adult brain cell body rind

(Knowles-Barley, 2011.8.24)

Reporter: PBac{681.P.FSVS-1}mgl^CPTI001336

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage

adult brain cell body rind

(Knowles-Barley, 2011.8.24)

High-Throughput Expression Data

Associated Tools

JBrowse - Visual display of RNA-Seq signals

View Dmel\mgl in JBrowse

RNA-Seq by Region - Search RNA-Seq expression levels by exon or genomic region

View exonic expression by developmental stage for Dmel\mgl

View exonic expression by tissue for Dmel\mgl

Bulk Downloads

RNA-Seq RPKM values for all genes

Reference

See Gelbart and Emmert, 2013 for analysis details and data files for all genes.

Developmental Proteome: Life Cycle

Developmental Proteome: Embryogenesis

External Data and Images

Linkouts

BDGP expression data - Patterns of gene expression in Drosophila embryogenesis

FBgn0261260

DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species

8674055/tissue=All

EMBL-EBI Single Cell Expression Atlas - Single cell expression across species

FBgn0261260

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data

FBgn0261260

Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns

Flygut - An atlas of the Drosophila adult midgut

FBgn0261260

Images

FlyBase Wiki

Image Based Resources

Alleles, Insertions, Transgenic Constructs, and Aberrations

Classical and Insertion Alleles ( 23 )

For All Classical and Insertion Alleles Show

Other relevant insertions

Transgenic Constructs ( 19 )

For All Alleles Carried on Transgenic Constructs Show

Transgenic constructs containing/affecting coding region of mgl

Transgenic constructs containing regulatory region of mgl

Aberrations (Deficiencies and Duplications) ( 0 )

Inferred from experimentation ( 0 )

Inferred from location ( 18 )

Variants

Variant Molecular Consequences

Alleles Representing Disease-Implicated Variants

Phenotypes

For more details about a specific phenotype click on the relevant allele symbol.

Lethality

Allele

lethal | recessive

lethal - all die before end of pupal stage, with Scer\GAL4^pnr-MD237

mgl^GD8973

partially lethal - majority die | nutrition conditional, with Scer\GAL4^Tub.PU

mgl^KK100435

viable

mgl⁷⁹³

viable, with Dcr-2^UAS.cDa, Scer\GAL4^elav.PLu

viable, with Scer\GAL4^Mef2.PR

viable, with Scer\GAL4^pnr-MD237

viable, with Scer\GAL4^tin.CΔ4

Other Phenotypes

Allele

abnormal body color, with Scer\GAL4^en-e16E

mgl^RNAi.UAS.cRa

majority die during P-stage | nutrition conditional, with Scer\GAL4^Tub.PU

mgl^KK100435

some die during pupal stage, with Scer\GAL4^pnr-MD237

mgl^GD8973

visible, with Scer\GAL4^C-765

mgl^RNAi.UAS.cKa

visible, with Scer\GAL4^en-e16E

mgl^RNAi.UAS.cKa

visible, with Scer\GAL4^pnr-MD237

Phenotype manifest in

Allele

adult cuticle, with Scer\GAL4^C-765

mgl^RNAi.UAS.cKa

procuticle, with Scer\GAL4^ap-md544

mgl^RNAi.UAS.cKa

trichogen cell, with Scer\GAL4^pnr-MD237

wing blade, with Scer\GAL4^C-765

mgl^RNAi.UAS.cKa

wing blade posterior compartment, with Scer\GAL4^en-e16E

Orthologs

Downloads

Download All DIOPT Orthologs

Human Orthologs (via DIOPT v9.1)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Homo sapiens (Human) (104)

Hsap\LRP2

12 of 14

Yes

6 of 14

5 of 14

3 of 14

3 of 14

3 of 14

2 of 14

Yes

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

2 of 14

Yes

Hsap\LDLR

2 of 14

Hsap\LRP3

2 of 14

Yes

Hsap\LRP8

2 of 14

Hsap\LRP10

2 of 14

Yes

Hsap\LRP12

2 of 14

Yes

2 of 14

2 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

Hsap\COL14A1

1 of 14

Yes

Hsap\COL20A1

1 of 14

Yes

Hsap\COL21A1

1 of 14

Yes

Hsap\COL22A1

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

Hsap\SORCS2

1 of 14

Yes

Hsap\SORCS3

1 of 14

Yes

Hsap\SORT1

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

Hsap\VWA2

1 of 14

Yes

Hsap\VWCE

1 of 14

Model Organism Orthologs (via DIOPT v9.1)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Rattus norvegicus (Norway rat) (42)

Rnor\Lrp2

11 of 14

Yes

5 of 14

3 of 14

3 of 14

3 of 14

2 of 14

Yes

Rnor\Ldlr

2 of 14

Rnor\Lrp1b

2 of 14

Rnor\Lrp3

2 of 14

Yes

Rnor\Lrp8

2 of 14

Rnor\Lrp12

2 of 14

Yes

Rnor\Vldlr

2 of 14

Rnor\C1r

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

Rnor\Lrp10

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

Mus musculus (laboratory mouse) (48)

Mmus\Lrp2

12 of 14

Yes

Mmus\Lrp1b

6 of 14

Mmus\Lrp1

5 of 14

Mmus\Gm19410

3 of 14

Yes

3 of 14

3 of 14

3 of 14

2 of 14

Yes

Mmus\Ldlr

2 of 14

Mmus\Lrp3

2 of 14

Yes

Mmus\Lrp8

2 of 14

Mmus\Lrp10

2 of 14

Yes

Mmus\Lrp12

2 of 14

Yes

Mmus\Sorl1

2 of 14

Mmus\Vldlr

2 of 14

Mmus\C1qtnf5

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

Mmus\Scube1

1 of 14

Yes

Mmus\Scube2

1 of 14

Yes

Mmus\Sned1

1 of 14

Mmus\Sorcs2

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Xenopus tropicalis (Western clawed frog) (70)

Xtro\lrp2

10 of 13

Yes

4 of 13

3 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

Yes

Xtro\efemp1

1 of 13

Xtro\egfl6

1 of 13

Yes

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

Yes

1 of 13

1 of 13

1 of 13

1 of 13

Yes

Xtro\ldlrad3

1 of 13

Yes

Xtro\ldlr

1 of 13

Xtro\LOC100488932

1 of 13

Yes

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

Yes

Xtro\lrp3

1 of 13

Yes

1 of 13

1 of 13

1 of 13

1 of 13

Yes

Xtro\masp2

1 of 13

Xtro\matn1

1 of 13

Yes

Xtro\megf10

1 of 13

Xtro\mfrp

1 of 13

Yes

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

Yes

Xtro\sorcs2

1 of 13

Yes

Xtro\sorl1

1 of 13

Xtro\sort1

1 of 13

Yes

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

Yes

Xtro\vldlr

1 of 13

Xtro\vwce

1 of 13

Yes

Xtro\vwde

1 of 13

Yes

Xtro\XB5809687

1 of 13

Danio rerio (Zebrafish) (57)

Drer\lrp2b

13 of 14

Yes

Drer\lrp2a

12 of 14

Yes

5 of 14

5 of 14

4 of 14

4 of 14

3 of 14

3 of 14

Yes

Drer\si:dkey-88l16.3

3 of 14

Drer\ldlra

2 of 14

Drer\lrp3

2 of 14

Yes

Drer\lrp8

2 of 14

Drer\lrp10

2 of 14

Yes

Drer\sorl1

2 of 14

Yes

2 of 14

1 of 14

1 of 14

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

Drer\LOC100536757

1 of 14

Yes

Drer\lrp4

1 of 14

Drer\lrp6

1 of 14

Drer\lrp12

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

Drer\scube3

1 of 14

Yes

Drer\si:dkey-32n7.7

1 of 14

Drer\si:dkey-258f14.3

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Caenorhabditis elegans (Nematode, roundworm) (27)

Cele\lrp-1

12 of 14

Yes

Cele\F14B4.1

5 of 14

Yes

Cele\lrp-2

4 of 14

Cele\egg-1

2 of 14

Yes

Cele\egg-2

2 of 14

Yes

Cele\F32E10.8

2 of 14

Yes

Cele\rme-2

2 of 14

Cele\B0393.7

1 of 14

Yes

Cele\bli-1

1 of 14

Yes

Cele\cdh-4

1 of 14

Cele\clec-180

1 of 14

Yes

Cele\col-108

1 of 14

Yes

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Yes

Cele\mec-5

1 of 14

Yes

Cele\mup-4

1 of 14

Cele\nid-1

1 of 14

Cele\R11G1.1

1 of 14

Yes

Cele\svh-1

1 of 14

Cele\T13C2.6

1 of 14

Cele\Y64G10A.7

1 of 14

Anopheles gambiae (African malaria mosquito) (59)

Agam\AgaP_AGAP000331

12 of 12

Yes

3 of 12

2 of 12

2 of 12

2 of 12

Yes

2 of 12

2 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

Yes

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

1 of 12

Arabidopsis thaliana (thale-cress) (0)

Saccharomyces cerevisiae (Brewer's yeast) (0)

Schizosaccharomyces pombe (Fission yeast) (0)

Escherichia coli (enterobacterium) (0)

Other Organism Orthologs (via OrthoDB)

Data provided directly from OrthoDB:mgl. Refer to their site for version information.

Paralogs

Downloads

Download All DIOPT Paralogs

Paralogs (via DIOPT v9.1)

Gene Symbol

Score

Source

Alignment

Drosophila melanogaster (Fruit fly) (48)

LRP1

6 of 13

arr

4 of 13

Lrp4

4 of 13

cue

3 of 13

LpR2

3 of 13

CG6553

2 of 13

LpR1

2 of 13

Ndg

2 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

crb

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

dpy

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

MP1

1 of 13

Ser

1 of 13

slow

1 of 13

snk

1 of 13

tpr

1 of 13

trol

1 of 13

Human Disease Associations

FlyBase Human Disease Model Reports

congenital heart defect (postulated), LRP2-related

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 1 )

Allele

Disease

Evidence

References

mgl^GD14539

model of congenital heart disease

CEA

(Theis et al., 2020)

Potential Models Based on Orthology ( 1 )

Human Ortholog

Disease

Evidence

References

LRP2; LDL receptor related protein 2

model of Donnai-Barrow syndrome

IEA

(FlyBase, 2019-)

Modifiers Based on Experimental Evidence ( 0 )

Allele

Disease

Interaction

References

Disease Associations of Human Orthologs (via DIOPT v9.1 and OMIM)

Note that ortholog calls supported by only 1 or 2 algorithms (DIOPT score < 3) are not shown.

Homo sapiens (Human)

Gene name

Score

OMIM

OMIM Phenotype

DO term

Complementation?

Transgene?

LRP2; LDL receptor related protein 2

12 of 14

600073

DONNAI-BARROW SYNDROME; DBS

Donnai-Barrow syndrome

LRP1B; LDL receptor related protein 1B

6 of 14

608766

LRP1; LDL receptor related protein 1

5 of 14

107770

keratosis pilaris atrophicans

LRP4; LDL receptor related protein 4

3 of 14

604270

LRP5; LDL receptor related protein 5

3 of 14

603506

LRP6; LDL receptor related protein 6

3 of 14

603507

coronary artery disease

Functional Complementation Data

Functional complementation data is computed by FlyBase using a combination of the orthology data obtained from DIOPT and OrthoDB and the allele-level genetic interaction data curated from the literature.

Interactions

Summary of Physical Interactions

Interaction Browsers

Summary of Genetic Interactions

Interaction Browsers

View in FlyBase Interactions Browser View in MIST tool (external link)

Please look at the allele data for full details of the genetic interactions

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

Amnionless

suppressible

mgl

(Atienza-Manuel et al., 2021)

External Data

Linkouts

BioGRID - A database of protein and genetic interactions.

1073069

DroID - A comprehensive database of gene and protein interactions.

FBgn0261260

MIST (protein-protein) - An integrated Molecular Interaction Database

8674055

Pathways

Signaling Pathways (FlyBase)

Metabolic Pathways

FlyBase

External Links

External Data

Linkouts

Class of Gene

gene_with_edited_transcript

(Graveley et al., 2011)

nuclear_gene

protein_coding_gene

(FlyBase Genome Annotators, 2007)

Genomic Location and Detailed Mapping Data

Chromosome (arm)

Recombination map

1-28

Cytogenetic map

8D9-8E4

Sequence location

X:9,358,496..9,500,129 [-]

FlyBase Computed Cytological Location

Cytogenetic map

Evidence for location

8D9-8E4

Limits computationally determined from genome sequence between P{EP}EP1450&P{EP}EP1356 and P{EP}EP912^EP912;

Experimentally Determined Cytological Location

Cytogenetic map

Notes

References

Experimentally Determined Recombination Data

Location

1-28

(FlyBase, 2016)

1-29.1

(Comeron et al., 2012)

Left of (cM)

Right of (cM)

Notes

Stocks and Reagents

Stocks (25)

Aberrations including deletions of this gene Aberrations including duplications of this gene

Bloomington

85461

w¹¹¹⁸ P{XP}d06015

94565

w^* mgl⁷⁹³

29324

y¹ v¹; P{TRiP.JF02485}attP2

62771

w¹¹¹⁸ PBac{IT.GAL4}mgl^0309-G4

94561

w^* mgl¹⁶⁸/FM7i, P{ActGFP}JMR3

94562

w^* mgl²⁶⁹/FM7i, P{ActGFP}JMR3

94563

w^* mgl⁴⁰⁶/FM7i, P{ActGFP}JMR3

12139R-1

v105071

v105387

v27242

w¹¹¹⁸; P{GD14488}v27242

v36389

w¹¹¹⁸; P{GD14539}v36389

More stocks available...

Genomic Clones (76)

Please Note FlyBase no longer curates genomic clone accessions so this list may not be complete

cDNA Clones (29)

Please Note This section lists cDNAs and ESTs that fall within the genomic extent of the gene model, which may include cDNAs and ESTs of genes within introns, or of overlapping genes. Please see JBrowse for alignment of the cDNAs and ESTs to the gene model.

cDNA clones, fully sequenced

BDGP DGC clones

GH12891

Other clones

IP21817

Drosophila Genomics Resource Center cDNA clones

For each fully sequenced cDNA the DGRC maintains various forms of the cDNA (e.g tagged or untagged) in several different host vectors for subsequent cloning and expression in Drosophila and Drosophila cell lines.

FBgn0261260

cDNA Clones, End Sequenced (ESTs)

BDGP DGC clones

RNAi and Array Information

Linkouts

DRSC - Results frm RNAi screens

FBgn0261260

Antibody Information

Laboratory Generated Antibodies

polyclonal

(Atienza-Manuel et al., 2021, Brankatschk et al., 2014, Khaliullina et al., 2009)

Commercially Available Antibodies

Cell Line Information

Publicly Available Cell Lines

Other Stable Cell Lines

Other Comments

New annotation (CG34339) in release 5.2 of the genome annotation.

(FlyBase Genome Annotators, 2007)

Relationship to Other Genes

Source for database merge of

Source for merge of: CG12139 CG12654

(FlyBase Genome Annotators, 2007)

Source for merge of: CG34339 CG34352

(FlyBase Genome Annotators, 2009)

Source for merge of: CG12139 anon-WO0140519.108

(FlyBase, 1996-)

Additional comments

Annotations CG34339 and CG34352 merged as CG42611 in release 5.20 of the genome annotation.

(FlyBase Genome Annotators, 2009)

Original annotation in this location (CG1531) utilized wrong ORF; current ORF (CG34339) supported by conservation across Drosophila species.

(FlyBase Genome Annotators, 2007)

Annotations CG12139 and CG12654 merged as CG34352 in release 5.2 of the genome annotation.

(FlyBase Genome Annotators, 2007)

Source for merge of CG12139 anon-WO0140519.108 was sequence comparison ( date:051113 ).

(FlyBase, 1996-)

Nomenclature History

Source for database identify of

Source for identity of: Megalin CG42611

(Khaliullina et al., 2009)

Source for identity of: mgl Megalin

(Riedel et al., 2011)

Nomenclature comments

Etymology

Synonyms and Secondary IDs (18)

Reported As

Symbol Synonym

CG12139

(Christis and Munro, 2012, Jaspers et al., 2012, Soukup et al., 2009, Tan et al., 2009, Holloway et al., 2008, Altenhein et al., 2006, Fisher and Howie, 2006)

CG12654

(Chen et al., 2008)

CG15316

(FlyBase Genome Annotators, 2007)

CG34339

(Ashwal-Fluss et al., 2014, Kong et al., 2010, Orengo and Aguadé, 2010, Hutter, 2009.6.2, Hutter, 2009.8.31, Keleman et al., 2009.8.5, FlyBase Genome Annotators, 2007)

CG34352

(Ashwal-Fluss et al., 2014, Japanese National Institute of Genetics, 2012.5.21, Jungreis, 2011.11.18, Keleman et al., 2009.8.5, FlyBase Genome Annotators, 2007)

CG42611

(Duff et al., 2015, Riedel et al., 2011, Ni et al., 2010.12.1, FlyBase Genome Annotators, 2009, Perkins et al., 2009)

CT7830

(Hynes and Zhao, 2000)

Dm CG34352

(Konikoff et al., 2010)

LDLR

(Logan et al., 2012)

LRP-2

(Johnson and Stolzing, 2019)

Megalin

(Wasbrough et al., 2010)

Mgl

(Li et al., 2023, Atienza-Manuel et al., 2021, Zhu et al., 2017)

SOSIE

(Hutter, 2009.6.2)

anon-WO0140519.108

lrp2

(Brankatschk et al., 2014)

megalin

(Kim et al., 2021)

Name Synonyms

CG12139

(Khaliullina et al., 2009)

CG12654

LDL receptor-related protein 2

(Johnson and Stolzing, 2019)

Megalin

(Hermle et al., 2017, Khaliullina et al., 2009)

Secondary FlyBase IDs

FBgn0085368
FBgn0085381
FBgn0030130
FBgn0030131
FBgn0044776

Datasets (0)

Study focus (0)

Experimental Role

Project

Project Type

Title

Study result (0)

Result

Result Type

Title

External Crossreferences and Linkouts ( 61 )

Sequence Crossreferences

NCBI Gene - Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

8674055

GenBank Nucleotide - A collection of sequences from several sources, including GenBank, RefSeq, TPA, and PDB.

GenBank Protein - A collection of sequences from several sources, including translations from annotated coding regions in GenBank, RefSeq and TPA, as well as records from SwissProt, PIR, PRF, and PDB.

RefSeq - A comprehensive, integrated, non-redundant, well-annotated set of reference sequences including genomic, transcript, and protein.

UniProt/GCRP - The gene-centric reference proteome (GCRP) provides a 1:1 mapping between genes and UniProt accessions in which a single 'canonical' isoform represents the product(s) of each protein-coding gene.

A8JTM7

UniProt/TrEMBL - Automatically annotated and unreviewed records of protein sequence and functional information

Other crossreferences

AlphaFold DB - AlphaFold provides open access to protein structure predictions for the human proteome and other key proteins of interest, to accelerate scientific research.

A8JTM7

BDGP expression data - Patterns of gene expression in Drosophila embryogenesis

FBgn0261260

DRscDB - A single-cell RNA-seq resource for data mining and data comparison across species

8674055/tissue=All

EMBL-EBI Single Cell Expression Atlas - Single cell expression across species

FBgn0261260

FlyAtlas2 - A Drosophila melanogaster expression atlas with RNA-Seq, miRNA-Seq and sex-specific data

FBgn0261260

InterPro - A database of protein families, domains and functional sites

KEGG Genes - Molecular building blocks of life in the genomic space.

dme:Dmel_CG42611

MARRVEL_MODEL - MARRVEL (model organism gene)

8674055

Linkouts

BioGRID - A database of protein and genetic interactions.

1073069

Drosophila Genomics Resource Center - Drosophila Genomics Resource Center (DGRC) cDNA clones

FBgn0261260

DroID - A comprehensive database of gene and protein interactions.

FBgn0261260

DRSC - Results frm RNAi screens

FBgn0261260

Eukaryotic Promoter Database - A collection of databases of experimentally validated promoters for selected model organisms.

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FlyCyc Genes - Genes from a BioCyc PGDB for Dmel

FBGN0261260

Fly-FISH - A database of Drosophila embryo and larvae mRNA localization patterns

Flygut - An atlas of the Drosophila adult midgut

FBgn0261260

FlyMet - A comprehensive tissue-specific metabolomics resource for Drosophila.

FBgn0261260

iBeetle-Base - RNAi phenotypes in the red flour beetle (Tribolium castaneum)

MIST (protein-protein) - An integrated Molecular Interaction Database

8674055

References (106)

The following external sites may use different assemblies or annotations than FlyBase.

-0.81

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