FlyBase Gene Report: Dmel\uex

General Information

Symbol

Dmel\uex

Species

D. melanogaster

Name

unextended

Annotation Symbol

CG42595

Feature Type

protein_coding_gene

FlyBase ID

FBgn0262124

Gene Model Status

Current

Stock Availability

5 publicly available

Gene Summary

Probable metal transporter (By similarity). Acts downstream of PRL-1 and protects the nervous system against olfactory carbon dioxide stimulation (PubMed:31404830). (UniProt, A0A0B7P9G0)

Contribute a Gene Snapshot for this gene.

All Summaries

Alliance
Auto summary
Gene Group
UniProtKB
Red Book
Interactive Fly

Also Known As

l(2)41Ad, 41Ad, GroupIII

Key Links

Genomic Location

Cytogenetic map

41A1-41A1

Sequence location

2R:3,900,285..3,949,425 [-]

Recombination map

2-55

RefSeq locus

NT_033778 REGION:3900285..3949425

Sequence

Get Decorated FASTA

Genomic Maps

JBrowse

Other Genome Views

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

NCBI

UCSC

Ensembl

Function

Gene Ontology (GO) Annotations (10 terms)

Molecular Function (3 terms)

Terms Based on Experimental Evidence (2 terms)

CV Term

Evidence

References

enables magnesium ion transmembrane transporter activity

inferred from direct assay

(Wu et al., 2020)

enables protein binding

inferred from physical interaction with UniProtKB:O61722

(Guo et al., 2019)

Terms Based on Predictions or Assertions (1 term)

CV Term

Evidence

References

enables transmembrane transporter activity

inferred from biological aspect of ancestor with PANTHER:PTN000248898

(GO Reference Genome Project, 2011-)

Biological Process (6 terms)

Terms Based on Experimental Evidence (4 terms)

CV Term

Evidence

References

involved_in cellular response to carbon dioxide

inferred from genetic interaction with UniProtKB:O61722

(Guo et al., 2019)

involved_in export across plasma membrane

inferred from direct assay

(Wu et al., 2020)

acts_upstream_of_positive_effect long-term memory

inferred from mutant phenotype

(Wu et al., 2020)

involved_in magnesium ion transmembrane transport

inferred from direct assay

(Wu et al., 2020)

Terms Based on Predictions or Assertions (2 terms)

CV Term

Evidence

References

involved_in intracellular monoatomic ion homeostasis

inferred from sequence or structural similarity with SGD:S000005421

(Gene Ontology Curators, 2002-)

involved_in magnesium ion homeostasis

inferred from electronic annotation with InterPro:IPR045095

(InterPro Project Members, 2004-)

Cellular Component (1 term)

Terms Based on Experimental Evidence (1 term)

CV Term

Evidence

References

is_active_in plasma membrane

inferred from direct assay

(Wu et al., 2020)

located_in plasma membrane

inferred from direct assay

(Guo et al., 2019)

Terms Based on Predictions or Assertions (1 term)

CV Term

Evidence

References

is_active_in plasma membrane

inferred from biological aspect of ancestor with PANTHER:PTN000248898

(GO Reference Genome Project, 2011-)

Gene Group (FlyBase)

CNNM-TYPE Mg²⁺-EFFLUX TRANSPORTER SUBUNITS

Protein Family (UniProt)

Belongs to the ACDP family. (A0A0B7P9G0)

Protein Signatures (InterPro)

Catalytic Activity (EC/Rhea)

magnesium ion transmembrane transporter activity
RHEA 29827:

Summaries

Gene Group (FlyBase)

CNNM-TYPE Mg²⁺-EFFLUX TRANSPORTER SUBUNITS -: CNNM-type Mg[2+]-efflux transporters are transmembrane channels allow the passage of cytosolic Mg[2+] ions across the plasma membrane. They possess an intracellular cyclic nucleotide-binding homology (CNBH) domain, which may be involved in regulation by cyclic nucleotides. (Adapted from FBrf0247921.)

Protein Function (UniProtKB)

Probable metal transporter (By similarity). Acts downstream of PRL-1 and protects the nervous system against olfactory carbon dioxide stimulation (PubMed:31404830).

(UniProt, A0A0B7P9G0)

Phenotypic Description (Red Book; Lindsley and Zimm 1992)

uex: unextended

Wings incompletely expanded as in a newly emerged fly, about one-half normal length, and frequently inflated. Tibiae and tarsi of third legs irregularly shortened and gnarled. Posterior scutellars convergent. The rare uex2 - uex7 hemizygous survivors may also have etched tergites and small bodies.

Summary (Interactive Fly)

a functional fly ortholog of the mammalian Cyclin M2 Mg2+-efflux transporter (CNNM) proteins - critical for the memory enhancing property of Mg2+ - Uex function in mushroom body kenyon cells is required for long term memory - functional restoration of uex reveals the MB to be the key site of Mg2+-dependent memory enhancement - Uex acts downstream of PRL-1 - elevated Uex levels in PRL-1 mutants prevent a CO2-induced phenotype - PRL-1 and Uex are required for a wide range of neurons to maintain neuroprotective functions

Interactive Fly

Gene Model and Products

Number of Transcripts

Number of Unique Polypeptides

Please see the JBrowse view of Dmel\uex 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 A0A0B7P9G0)

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

PDB - An information portal to biological macromolecular structures

8CT8

Comments on Gene Model

Gene model reviewed during 5.55

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

Gene model reviewed during 5.47

A portion of the 5' UTR represents duplicated sequence either side of a gypsy-like repetitive element.

Gene model reviewed during 6.01

Sequence Ontology: Class of Gene

gene

gene_with_edited_transcript

(Rodriguez et al., 2012)

nuclear_gene

protein_coding_gene

Transcript Data

Annotated Transcripts

Name

FlyBase ID

RefSeq ID

Length (nt)

Assoc. CDS (aa)

uex-RE

FBtr0302226

NM_001110921

3937

834

uex-RF

FBtr0302227

NM_001110920

3417

834

uex-RG

FBtr0334938

NM_001276233

2867

834

uex-RH

FBtr0346683

NM_001301215

2867

834

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

uex-PE

FBpp0291436

93.3

834

5.26

FBpp0291437

93.3

834

5.26

FBpp0306957

93.3

834

5.26

FBpp0312292

93.3

834

5.26

A0A0B7P9G0

NP_001288144

AIG63332

Polypeptides with Identical Sequences

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

834 aa isoforms: uex-PE, uex-PF, uex-PG, uex-PH

Additional Polypeptide Data and Comments

Reported size (kDa)

Comments

External Data

Subunit Structure (UniProtKB)

Interacts with PRL-1, possibly at the plasma membrane.

(UniProt, A0A0B7P9G0)

Crossreferences

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

PDB - An information portal to biological macromolecular structures

8CT8

Linkouts

Sequences Consistent with the Gene Model

Nucleotide / Polypeptide Records

UniProt

A0A0B7P9G0

Mapped Features

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

External Data

Crossreferences

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).

-0.88

Transcript Expression

Additional Descriptive Data

Marker for

Subcellular Localization

CV Term

Polypeptide Expression

mass spectroscopy

Stage

Tissue/Position (including subcellular localization)

Reference

adult stage

adult head

• membrane

(Aradska et al., 2015)

day 7 of adulthood -- day 49 of adulthood

adult heart

(Cammarato et al., 2011)

Additional Descriptive Data

Marker for

Subcellular Localization

CV Term

Evidence

References

is_active_in plasma membrane

inferred from direct assay

(Wu et al., 2020)

located_in plasma membrane

inferred from direct assay

(Guo et al., 2019)

Expression Deduced from Reporters

High-Throughput Expression Data

Associated Tools

JBrowse - Visual display of RNA-Seq signals

View Dmel\uex in JBrowse

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

View exonic expression by developmental stage for Dmel\uex

View exonic expression by tissue for Dmel\uex

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

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

5740320/tissue=All

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

FBgn0262124

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0058084

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

FBgn0262124

Images

FlyBase Wiki

Image Based Resources

Alleles, Insertions, Transgenic Constructs, and Aberrations

Classical and Insertion Alleles ( 27 )

For All Classical and Insertion Alleles Show

Other relevant insertions

Transgenic Constructs ( 6 )

For All Alleles Carried on Transgenic Constructs Show

Transgenic constructs containing/affecting coding region of uex

Transgenic constructs containing regulatory region of uex

Aberrations (Deficiencies and Duplications) ( 104 )

Inferred from experimentation ( 104 )

Gene disrupted in

Df(2R)34-2

(Coulthard et al., 2010)

Df(2R)247

(Coulthard et al., 2010, Marygold et al., 2005, Myster et al., 2004, Myster and Peifer, 2003.9.11)

Df(2R)cb25-4

(Lyttle, 1989)

Df(2R)IR1

(Dimitri et al., 1997)

Df(2R)IR2

(Dimitri et al., 1997)

Df(2R)IR40

(Dimitri et al., 1997)

Df(2R)IR42

(Dimitri et al., 1997)

Df(2R)IR47

(Dimitri et al., 1997)

Df(2R)M41A1

(Marygold et al., 2005)

Df(2R)M41A4

(Marygold et al., 2005, Hilliker and Holm, 1975)

Df(2R)M41A8

(Marygold et al., 2005, Myster et al., 2004, Dimitri et al., 1997, Hilliker and Holm, 1975)

Df(2R)M41A10

(Marygold et al., 2005, Myster et al., 2004, Dimitri et al., 1997, Eberl et al., 1993, Lyttle, 1989, Ganetzky, 1977, Hilliker, 1976, Hilliker and Holm, 1975)

Df(2R)NC13

(Myster et al., 2004, Myster and Peifer, 2003.9.11)

Df(2R)NC50

(Myster et al., 2004)

Df(2R)NC68

(Myster et al., 2004)

Df(2R)NC98

(Myster et al., 2004)

Df(2R)NC125

(Myster et al., 2004)

Df(2R)NC167

(Myster et al., 2004)

Df(2R)NC191

(Myster et al., 2004)

Df(2R)NC195

(Myster et al., 2004)

Df(2R)NC202

(Myster et al., 2004)

Df(2R)NC218

(Myster et al., 2004)

Df(2R)NC228

(Myster et al., 2004, Myster and Peifer, 2003.9.11)

Df(2R)PRB

(Eberl et al., 1993)

Df(2R)rl-1G

(Ganetzky, 1977, Hilliker, 1976)

Df(2R)rl-2J

(Ganetzky, 1977, Hilliker, 1976)

Df(2R)rl-4J

(Ganetzky, 1977, Hilliker, 1976)

Df(2R)rl-5B

(Ganetzky, 1977, Hilliker, 1976)

Df(2R)rl-6C

(Ganetzky, 1977, Hilliker, 1976)

Df(2R)rl-9B

(Hilliker, 1976)

Df(2R)rl-10G

(Ganetzky, 1977, Hilliker, 1976)

Df(2R)rl-12E

(Ganetzky, 1977, Hilliker, 1976)

Df(2R)rl-13D

(Ganetzky, 1977, Hilliker, 1976)

Df(2R)rl-14C

(Ganetzky, 1977, Hilliker, 1976)

Df(2R)rl-18C

(Hilliker, 1976)

Df(2R)rl-B

(Hilliker, 1976)

Df(2R)rl-F

(Ganetzky, 1977, Hilliker, 1976)

Df(2R)rl-I

(Hilliker, 1976)

Df(2R)Rsp31

(Ganetzky, 1977)

In(2R)bw^VDe2Lbw^VDe1R

(Dimitri, 1991)

Gene not disrupted in

Df(2L)F

(Hilliker and Holm, 1975)

Df(2R)244

(Myster et al., 2004)

Df(2R)B

(Ganetzky, 1977, Hilliker, 1976)

(Lyttle, 1989)

(Lyttle, 1989)

(Lyttle, 1989)

(Lyttle, 1989)

(Lyttle, 1989)

(Myster et al., 2004)

Df(2R)M41A2

(Marygold et al., 2005, Myster et al., 2004)

Df(2R)M41A4

(Eberl et al., 1993, Sharp et al., 1985, Ganetzky, 1977, Hilliker, 1976)

Df(2R)M41A8

(Sharp et al., 1985)

Df(2R)nap1

(Myster et al., 2004)

Df(2R)NC32

(Myster et al., 2004)

Df(2R)NC73

(Myster et al., 2004)

Df(2R)NC168

(Myster et al., 2004)

Df(2R)NC207

(Myster et al., 2004)

Df(2R)NC219

(Myster et al., 2004)

Df(2R)NC1198

(Myster et al., 2004)

Df(2R)Nipped-D

(Myster et al., 2004)

Df(2R)PR50

(Eberl et al., 1993)

(Hilliker, 1976)

(Ganetzky, 1977)

(Ganetzky, 1977)

(Dimitri, 1991)

Ts(Y;2Lt)C+Ts(Y;2Rt)A

(Dimitri, 1991)

Gene duplicated in

Dp(2;f)e1

(Brittnacher and Ganetzky, 1989)

Dp(2;f)e24

(Brittnacher and Ganetzky, 1989)

Dp(2;f)e29

(Brittnacher and Ganetzky, 1989)

Dp(2;f)e44

(Brittnacher and Ganetzky, 1989)

Dp(2;f)e57

(Brittnacher and Ganetzky, 1989)

Dp(2;f)e58

(Brittnacher and Ganetzky, 1989)

Dp(2;f)e61

(Brittnacher and Ganetzky, 1989)

Dp(2;f)e74

(Brittnacher and Ganetzky, 1989)

Dp(2;f)e87

(Brittnacher and Ganetzky, 1989)

Dp(2;f)e97

(Dimitri et al., 1997, Brittnacher and Ganetzky, 1989)

Dp(2;f)f29

(Brittnacher and Ganetzky, 1989)

Dp(2;f)f45

(Brittnacher and Ganetzky, 1989)

Dp(2;f)f52

(Brittnacher and Ganetzky, 1989)

Dp(2;f)f53

(Brittnacher and Ganetzky, 1989)

Dp(2;f)f62

(Brittnacher and Ganetzky, 1989)

Dp(2;f)f74

(Brittnacher and Ganetzky, 1989)

Dp(2;f)f77

(Brittnacher and Ganetzky, 1989)

Dp(2;f)f82

(Brittnacher and Ganetzky, 1989)

Dp(2;f)f84

(Brittnacher and Ganetzky, 1989)

Dp(2;Y)cb25-4

(Lyttle, 1989)

Dp(2;Y)cb25-9

(Lyttle, 1989)

Dp(2;Y)cb25-11

(Lyttle, 1989)

Inferred from location ( 0 )

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

lethal (with Df(2R)34-2)

lethal (with Df(2R)247)

lethal (with uex^IR3)

lethal (with uex^L2)

lethal (with uex^La4)

lethal (with uex^NC1)

lethal (with uex^NC9)

lethal | pharate adult stage (with Df(2R)247)

uex²

lethal | pharate adult stage (with Df(2R)M41A10)

uex⁴

lethal | pharate adult stage (with uex²)

uex⁴

lethal | pharate adult stage (with uex⁴)

uex²

lethal | pupal stage (with Df(2R)247)

uex²

lethal | pupal stage (with Df(2R)M41A10)

uex⁴

lethal | pupal stage (with uex²)

uex⁴

lethal | pupal stage (with uex⁴)

uex²

lethal | recessive

lethal - all die before end of larval stage

lethal - all die before end of larval stage, with Scer\GAL4^elav.PLu

uex^HMS01492

lethal - all die before end of pupal stage (with Df(2R)34-2)

uex^La4

lethal - all die before end of pupal stage (with Df(2R)M41A10)

uex²

partially lethal - majority die (with Df(2R)34-2)

uex²

partially lethal - majority die (with uex^La4)

uex^NC1

partially lethal - majority die (with uex^NC1)

uex^La4

partially lethal - majority die | pharate adult stage (with Df(2R)247)

uex⁴

partially lethal - majority die | pupal stage (with Df(2R)247)

uex⁴

partially lethal - majority live (with uex²)

partially lethal - majority live (with uex⁴)

uex^L2

partially lethal - majority live (with uex^L2)

uex⁴

partially lethal - majority live (with uex^La4)

uex²

partially lethal - majority live (with uex^NC9)

uex²

viable

uex^HA

viable (with Df(2R)34-2)

uex⁴

viable (with uex²)

uex^L2

viable (with uex^IR3)

uex^La4

viable (with uex^L2)

uex²

viable (with uex^La4)

uex^IR3

viable (with uex^MI01943)

uex^Δ

viable (with uex^Δ)

uex^MI01943

Other Phenotypes

Allele

abnormal long-term memory, with Scer\GAL4^c739

uex^HMS01492

abnormal long-term memory, with Scer\GAL4^NP7175

uex^HMS01492

abnormal long-term memory (with uex^MI01943)

abnormal long-term memory (with uex^T626NRR)

uex^MI01943

abnormal long-term memory (with uex^Δ)

uex^MI01943

abnormal long-term memory | recessive

abnormal short-term memory | recessive

uex^T626NRR

decreased body size

decreased body size (with Df(2R)247)

some die during pupal stage (with Df(2R)34-2)

some die during pupal stage (with Df(2R)M41A10)

uex²

visible, with Scer\GAL4^Bx-MS1096

uex^KK114110

visible | adult stage, with Scer\GAL4^elav.PU

uex^HMS01492

visible | recessive

uex¹

Phenotype manifest in

Allele

mesothoracic femur

uex¹

mesothoracic leg

uex¹

mesothoracic tibia

uex¹

metathoracic femur

uex¹

metathoracic leg

uex¹

metathoracic leg (with Df(2R)34-2)

uex²

metathoracic leg (with Df(2R)247)

metathoracic leg (with uex²)

metathoracic leg (with uex^L2)

uex²

metathoracic leg (with uex^La4)

metathoracic leg (with uex^NC1)

uex^La4

metathoracic tibia

uex¹

posterior scutellar bristle

uex¹

postnotum

uex¹

tergite

wing

uex¹

wing, with Scer\GAL4^Bx-MS1096

uex^KK114110

wing, with Scer\GAL4^elav.PU

uex^HMS01492

wing (with Df(2R)247)

wing (with Df(2R)M41A10)

uex⁴

wing (with uex²)

uex^La4

wing (with uex^La4)

wing (with uex^NC1)

uex^La4

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) (4)

Hsap\CNNM2

13 of 14

Yes

Hsap\CNNM1

12 of 14

Yes

Hsap\CNNM4

12 of 14

Yes

Hsap\CNNM3

9 of 14

Yes

Model Organism Orthologs (via DIOPT v9.1)

Species\Gene Symbol

Score

Best Score

Best Reverse Score

Source

Alignment

Complementation?

Transgene?

Rattus norvegicus (Norway rat) (4)

Rnor\Cnnm2

13 of 14

Yes

Rnor\Cnnm4

12 of 14

Yes

Rnor\Cnnm1

9 of 14

Yes

Rnor\Cnnm3

9 of 14

Yes

Mus musculus (laboratory mouse) (4)

Mmus\Cnnm2

13 of 14

Yes

Mmus\Cnnm1

12 of 14

Yes

Mmus\Cnnm4

12 of 14

Yes

Mmus\Cnnm3

8 of 14

Yes

Xenopus tropicalis (Western clawed frog) (9)

Xtro\cnnm2

10 of 13

Yes

Xtro\cnnm4

9 of 13

Yes

Xtro\cnnm1

7 of 13

Yes

4 of 13

4 of 13

1 of 13

1 of 13

1 of 13

1 of 13

Danio rerio (Zebrafish) (7)

Drer\cnnm2b

13 of 14

Yes

Drer\cnnm2a

12 of 14

Yes

Drer\LOC100150651

12 of 14

Yes

Drer\cnnm1

11 of 14

Yes

Drer\LOC103911794

8 of 14

Yes

Drer\cnnm3

7 of 14

Yes

Drer\LOC100329789

1 of 14

Yes

Caenorhabditis elegans (Nematode, roundworm) (5)

Cele\cnnm-1

14 of 14

Yes

Cele\cnnm-3

12 of 14

Yes

Cele\cnnm-2

8 of 14

Yes

Cele\cnnm-4

6 of 14

Yes

Cele\cnnm-5

4 of 14

Yes

Anopheles gambiae (African malaria mosquito) (1)

Agam\AgaP_AGAP002094

12 of 12

Yes

Arabidopsis thaliana (thale-cress) (9)

Atha\AT1G47330

9 of 13

Yes

Atha\AT2G14520

9 of 13

Yes

Atha\AT4G14230

9 of 13

Yes

Atha\AT4G14240

9 of 13

Yes

Atha\AT4G33700

9 of 13

Yes

Atha\AT5G52790

9 of 13

Yes

Atha\AT1G03270

8 of 13

Yes

Atha\AT1G55930

4 of 13

Yes

Atha\AT3G13070

4 of 13

Yes

Saccharomyces cerevisiae (Brewer's yeast) (1)

Scer\MAM3

7 of 13

Yes

Schizosaccharomyces pombe (Fission yeast) (1)

Spom\SPCC4B3.03c

7 of 12

Yes

Escherichia coli (enterobacterium) (5)

Ecol\yfjD

3 of 11

Yes

Ecol\ytfL

3 of 11

Yes

Ecol\ybeX

2 of 11

Yes

Ecol\yegH

2 of 11

Yes

Ecol\yoaE

2 of 11

Yes

Other Organism Orthologs (via OrthoDB)

Data provided directly from OrthoDB:uex. 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) (0)

Human Disease Associations

FlyBase Human Disease Model Reports

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Allele

Disease

Evidence

References

Potential Models Based on Orthology ( 2 )

Human Ortholog

Disease

Evidence

References

CNNM2; cyclin and CBS domain divalent metal cation transport mediator 2

model of renal hypomagnesemia 6

IEA

(FlyBase, 2019-)

CNNM4; cyclin and CBS domain divalent metal cation transport mediator 4

model of Jalili 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?

CNNM2; cyclin and CBS domain divalent metal cation transport mediator 2

13 of 14

607803

renal hypomagnesemia 6

CNNM1; cyclin and CBS domain divalent metal cation transport mediator 1

12 of 14

607802

CNNM4; cyclin and CBS domain divalent metal cation transport mediator 4

12 of 14

607805

JALILI SYNDROME

Jalili syndrome

CNNM3; cyclin and CBS domain divalent metal cation transport mediator 3

9 of 14

607804

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

esyN Network Diagram

Show neighbor-neighbor interactions:

Off

Show/hide secondary interactors
(data from AllianceMine provided by esyN)

Select Layout:

Force Directed

Circle

Concentric

Legend:

Protein

RNA

Selected Interactor(s)

Interactions Browser

View in Interactions Browser

Please see the Physical Interaction reports below for full details

protein-protein

Physical Interaction

Assay

References

uex - PRL-1

molecular sieving, x-ray crystallography, isothermal titration calorimetry, predetermined participant, pull down, western blot, anti tag coimmunoprecipitation

(Fakih et al., 2023, Guo et al., 2019)

uex - cnk

anti tag coimmunoprecipitation, peptide massfingerprinting

(Friedman et al., 2011)

Summary of Genetic Interactions

esyN Network Diagram

Show/hide secondary interactors
(data from AllianceMine provided by esyN)

esyN Network Key:

Suppression

Enhancement

View in Interactions Browser

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

PRL-1

suppressible

uex

(Guo et al., 2019)

External Data

Subunit Structure (UniProtKB)

Interacts with PRL-1, possibly at the plasma membrane.

(UniProt, A0A0B7P9G0 )

Linkouts

DroID - A comprehensive database of gene and protein interactions.

FBgn0262124

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

5740320

Pathways

Signaling Pathways (FlyBase)

Metabolic Pathways

External Data

Linkouts

Genomic Location and Detailed Mapping Data

Chromosome (arm)

Recombination map

2-55

Cytogenetic map

41A1-41A1

Sequence location

2R:3,900,285..3,949,425 [-]

FlyBase Computed Cytological Location

Cytogenetic map

Evidence for location

41A1-41A1

Experimentally Determined Cytological Location

Cytogenetic map

Notes

References

Determined by P. Dimitri.

(Lyttle, 1989)

h44-h44

(determined by in situ hybridisation)

(Lyttle, 1989)

Heterochromatic, cytological location not yet determined.

(FlyBase Genome Annotators, 2002-2003)

Experimentally Determined Recombination Data

Location

2-55

(FlyBase, 2016, Maeda, 1984)

2-55.3

(Comeron et al., 2012)

2-55.1

Left of (cM)

(Dimitri et al., 1997)

Right of (cM)

(Dimitri et al., 1997)

Notes

Stocks and Reagents

Stocks (5)

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

Bloomington

7167

uex^NC1 cn¹ bw¹/SM1

32805

y¹ w^*; Mi{MIC}uex^MI01943

36116

y¹ sc^* v¹ sev²¹; P{TRiP.HMS01492}attP2

VDRC

v103156

P{KK114110}VIE-260B

v341965

P{hsFLP}1, y¹ w¹¹¹⁸; P{HD_CFD01275}attP40/CyO-GFP

Genomic Clones (27)

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

cDNA Clones (85)

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

Other clones

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.

FBgn0262124

cDNA Clones, End Sequenced (ESTs)

BDGP DGC clones

SD04879

Other clones

RNAi and Array Information

Linkouts

DRSC - Results frm RNAi screens

FBgn0262124

Antibody Information

Laboratory Generated Antibodies

polyclonal

(Guo et al., 2019)

Commercially Available Antibodies

Cell Line Information

Publicly Available Cell Lines

Other Stable Cell Lines

Other Comments

Sequence of transcript(s) changed in r6 genomic release relative to r5 release.

(FlyBase Genome Annotators, 2014)

New annotation (CG40084) in release 3 of the genome annotation.

(FlyBase Genome Annotators, 2002-2003)

Relationship to Other Genes

Source for database merge of

Source for merge of: CG40084 CR41594

(FlyBase Genome Annotators, 2009)

Source for merge of: uex CG42595 l(2)IR3

(Coulthard et al., 2010)

Additional comments

Annotations CG40084 and CR41594 merged as CG42595 in release 5.19 of the genome annotation.

(FlyBase Genome Annotators, 2009)

The 5' UTR of release 3 annotation CG40084 has been split into a separate annotation, CR41594, for release 5.2 of the genome annotation.

(Drosophila Heterochromatin Genome Project, 2007)

The "l(2)41Ae" locus fails to complement mutations in 7 genes ("l(2)NC37", "l(2)NC38", "l(2)NC133", "l(2)NC110", "l(2)NC70", "l(2)IR3" and "l(2)IR23"). The "l(2)41Ae" locus has previously been shown to have complex complementation behaviour (FBrf0028786). This information suggests that the "l(2)41Ae" "locus" may contain mutations in different genes.

(Dimitri et al., 2005)

May correspond to l(2)41Ae of FBrf0028786.

(Myster and Peifer, 2003.9.11)

The six hemizygous late-pupal lethals induced by Hilliker are inferred to be allelic to uex¹ on the basis of map position and phenotype.

Nomenclature History

Source for database identify of

Nomenclature comments

Etymology

Synonyms and Secondary IDs (16)

Reported As

Symbol Synonym

41Ad

(Dimitri et al., 2005, Cenci et al., 2003, Dimitri et al., 2003)

CG40084

(Ashwal-Fluss et al., 2014, Cammarato et al., 2011, Coulthard et al., 2010, Chew et al., 2009, Keleman et al., 2009.8.5, Drosophila Heterochromatin Genome Project, 2007, Rossi et al., 2007, Smith et al., 2007)

CG42595

(Caizzi et al., 2016, Ni et al., 2011.7.19, Coulthard et al., 2010, FlyBase Genome Annotators, 2009)

CR41594

(Drosophila Heterochromatin Genome Project, 2007, Smith et al., 2007)

EMS45-73

(Lyttle, 1989)

GroupIII

(Ganetzky, 1977, Hilliker, 1976)

IR3

(Dimitri et al., 2005)

l(2)41Ad

(Coulthard et al., 2010, Corradini et al., 2003, Dimitri et al., 2003, Dimitri, 1997, Dimitri et al., 1997, Gatti and Pimpinelli, 1992, Dimitri, 1991)

l(2)EMS34-7

(Eberl et al., 1993)

l(2)IR3

l(2R)A'

(Hilliker and Holm, 1975)

l(2R)EMS45-73

(Brittnacher and Ganetzky, 1989)

l(2Rh)IR3

(Myster et al., 2004)

uex

(Funikov et al., 2020, Guo et al., 2019, FlyBase Genome Annotators, 2014, Rodriguez et al., 2012, Friedman et al., 2011, Friedman et al., 2011, Coulthard et al., 2010)

Name Synonyms

CG40084

lethal (2) IR3

unextended

(Branco et al., 2017, Coulthard et al., 2010)

Secondary FlyBase IDs

FBgn0003946
FBgn0260994
FBan0040084
FBgn0058084
FBan0041594
FBgn0085809
FBgn0022281

Datasets (0)

Study focus (0)

Experimental Role

Project

Project Type

Title

Study result (0)

Result

Result Type

Title

External Crossreferences and Linkouts ( 41 )

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.

5740320

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

AABU01002748

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.

A0A0B7P9G0

UniProt/Swiss-Prot - Manually annotated and reviewed records of protein sequence and functional information

A0A0B7P9G0

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.

A0A0B7P9G0

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

5740320/tissue=All

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

FBgn0262124

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

FBgn0262124

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

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

dme:Dmel_CG42595

MARRVEL_MODEL - MARRVEL (model organism gene)

5740320

PDB - An information portal to biological macromolecular structures

8CT8

Linkouts

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

FBgn0262124

DroID - A comprehensive database of gene and protein interactions.

FBgn0262124

DRSC - Results frm RNAi screens

FBgn0262124

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0058084

FlyCyc Genes - Genes from a BioCyc PGDB for Dmel

FBGN0262124

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

TC000970

Interactive Fly - A cyberspace guide to Drosophila development and metazoan evolution

Interactive Fly

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

5740320

References (63)

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

-0.88

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