FlyBase Gene Report: Dmel\kcc

Comment: maternally deposited

(Fisher et al., 2012)

embryonic stage 1 -- 6

(Sun et al., 2010)

embryonic stage 4 -- 6

anterior midgut primordium

• cytoplasm | basal

Comment: apically cleared

(Fisher et al., 2012)

embryonic stage 11 -- 12

head mesoderm

(Fisher et al., 2012)

embryonic stage 12 -- 13

(Sun et al., 2010)

posterior midgut primordium

(Sun et al., 2010)

embryonic stage 12 -- 14

anal pad primordium

(Sun et al., 2010)

embryonic stage 12 -- 17

embryonic/larval hindgut

(Sun et al., 2010)

larval ventral nerve cord

(Sun et al., 2010)

embryonic stage 15 -- 17

embryonic/larval anal pad

(Sun et al., 2010)

microinjection

Stage

Tissue/Position (including subcellular localization)

Reference

larval stage

embryonic/larval midgut

Comment: enriched in acidic region

(Overend et al., 2016)

gastric caecum

(Overend et al., 2016)

northern blot

Stage

Tissue/Position (including subcellular localization)

Reference

(Romero-Calderon et al., 2007)

adult thorax | faint

Comment: Thorax and abdomen assayed together.

(Romero-Calderon et al., 2007)

adult abdomen | faint

Comment: Thorax and abdomen assayed together.

(Romero-Calderon et al., 2007)

RT-PCR

Stage

Tissue/Position (including subcellular localization)

Reference

embryonic stage

(Filippov et al., 2003)

adult Malpighian tubule | faint

adult midgut

(Filippov et al., 2003)

adult hindgut | faint

(Filippov et al., 2003)

(Filippov et al., 2003)

(Filippov et al., 2003)

adult stage | male

adult thorax & adult abdomen

Comment: reference stages "body"

(Filippov et al., 2003)

adult stage | female

adult thorax & adult abdomen

Comment: reference stages "body"

(Filippov et al., 2003)

Additional Descriptive Data

RNA-seq data show that kcc is expressed throughout the larval midgut but is enriched in the acidic region of the midgut.

(Overend et al., 2016)

Marker for

Subcellular Localization

CV Term

Polypeptide Expression

immunolocalization

Stage

Tissue/Position (including subcellular localization)

Reference

adult brain | restricted

• neuron projection

(Hekmat-Scafe et al., 2006)

adult protocerebrum

• neuron projection

(Hekmat-Scafe et al., 2006)

adult deutocerebrum

• neuron projection

(Hekmat-Scafe et al., 2006)

protocerebral bridge

• neuron projection

(Hekmat-Scafe et al., 2006)

ellipsoid body

• neuron projection

(Hekmat-Scafe et al., 2006)

fan-shaped body

• neuron projection

(Hekmat-Scafe et al., 2006)

adult antennal lobe

• neuron projection

(Hekmat-Scafe et al., 2006)

adult optic lobe

• neuron projection

(Hekmat-Scafe et al., 2006)

mass spectroscopy

Stage

Tissue/Position (including subcellular localization)

Reference

• membrane

(Aradska et al., 2015)

day 5 of adulthood & male -- day 7 of adulthood & male

spermatozoon

(Wasbrough et al., 2010)

western blot

Stage

Tissue/Position (including subcellular localization)

Reference

View exonic expression by developmental stage for Dmel\kcc

(Hekmat-Scafe et al., 2006)

Additional Descriptive Data

Marker for

Subcellular Localization

CV Term

Evidence

References

located_in axon

inferred from direct assay

(Rusan et al., 2014)

located_in neuronal cell body

inferred from direct assay

(Rusan et al., 2014)

located_in plasma membrane

inferred from high throughput direct assay

(Tan et al., 2009)

Expression Deduced from Reporters

High-Throughput Expression Data

Associated Tools

JBrowse - Visual display of RNA-Seq signals

View Dmel\kcc in JBrowse

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

View exonic expression by tissue for Dmel\kcc

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

FBgn0261794

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

37800/tissue=All

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

FBgn0261794

FlyAtlas - Adult expression by tissue, using Affymetrix Dros2 array

FBgn0025698

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

FBgn0261794

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

CG5594

Flygut - An atlas of the Drosophila adult midgut

FBgn0261794

Images

FlyBase Wiki

Image Based Resources

Alleles, Insertions, Transgenic Constructs, and Aberrations

Classical and Insertion Alleles ( 15 )

For All Classical and Insertion Alleles Show

Other relevant insertions

Transgenic Constructs ( 10 )

For All Alleles Carried on Transgenic Constructs Show

Transgenic constructs containing/affecting coding region of kcc

Transgenic constructs containing regulatory region of kcc

Aberrations (Deficiencies and Duplications) ( 15 )

Inferred from experimentation ( 15 )

Gene not disrupted in

Df(2R)b23

(Hekmat-Scafe et al., 2006, Wharton et al., 1999)

Df(2R)bw-DRj

(Wharton et al., 1999)

Df(2R)bw-HB132

(Wharton et al., 1999)

Df(2R)egl2

(Hekmat-Scafe et al., 2006, Wharton et al., 1999)

Df(2R)OV1

(Hekmat-Scafe et al., 2006, Wharton et al., 1999)

Df(2R)Px1

(Hekmat-Scafe et al., 2006)

Df(2R)tid

(Hekmat-Scafe et al., 2006)

Gene disrupted in

Df(2R)106

(Wharton et al., 1999)

Df(2R)BSC652

(Kahsai and Cook, 2018)

Df(2R)bw-DRa

(Wharton et al., 1999)

Df(2R)bw-S46

(Wharton et al., 1999)

Df(2R)Exel6080

(Ryder, 2004.4.26)

Df(2R)G10-7-5

(Wharton et al., 1999)

In(2LR)lt^G10LCD-14^R

(Wharton et al., 1999)

Gene duplicated in

Df(2R)106

(Hekmat-Scafe et al., 2006)

Df(2R)bw-DRa

(Hekmat-Scafe et al., 2006)

Df(2R)bw-S46

(Hekmat-Scafe et al., 2006)

Df(2R)Chi^g230

(Hekmat-Scafe et al., 2006)

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, with Scer\GAL4^Act5C.PI

lethal, with Scer\GAL4^Alp4-c507

kcc^HMS01058

lethal, with Scer\GAL4^elav-C155

lethal, with Scer\GAL4^RapGAP1-OK6

kcc^HMS01058

lethal, with Scer\GAL4^shot-OK307

kcc^HMS01058

lethal (with Df(2R)BSC601)

kcc^{MI04746-TG4.2}

lethal (with Df(2R)BSC652)

kcc^EY08304

lethal (with kcc^Ad-4)

lethal (with kcc^EY08304)

lethal (with kcc^P20-180)

lethal | recessive

lethal - all die during embryonic stage | recessive

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

kcc^GD3565

viable, with Scer\GAL4^Mef2.PR

kcc^GD3565

viable, with Scer\GAL4^pnr-MD237

kcc^GD3565

viable, with Scer\GAL4^tin.CΔ4

kcc^GD3565

Other Phenotypes

Allele

abnormal locomotor behavior | first instar larval stage, with Scer\GAL4^naz.PS

kcc^UAS.cHb

abnormal locomotor rhythm | adult stage, with Hsap\RELA^AD.R12G04, Scer\GAL4^DBD.R18D09

kcc^KK107965

abnormal locomotor rhythm | adult stage, with Scer\GAL4^Clk.-856

abnormal locomotor rhythm | adult stage, with Scer\GAL4^Clk.-856, Spyo\Cas9^UAS.P2

kcc^{UAS.3xgRNA.pCFD6}

abnormal locomotor rhythm | adult stage, with Scer\GAL4^Dvir\Pdf.1.9

kcc^KK107965

abnormal locomotor rhythm | adult stage, with Scer\GAL4^GMR18H11

kcc^KK107965

abnormal locomotor rhythm | adult stage, with Scer\GAL4^NP6258

abnormal locomotor rhythm | adult stage, with Scer\GAL4^tim.PE

abnormal locomotor rhythm | adult stage | light conditional, with Scer\GAL4^tim.PE, Spyo\Cas9^UAS.P2

kcc^{UAS.3xgRNA.pCFD6}

abnormal neuroanatomy, with Scer\GAL4^elav-C155

kcc^KK107965

abnormal neuroanatomy, with Scer\GAL4^ey-OK107

kcc^HMS01058

abnormal neuroanatomy, with Scer\GAL4^repo.PU

kcc^HMS01058

abnormal neuroanatomy, with Scer\GAL4^shot-OK307

kcc^KK107965

abnormal neuroanatomy | first instar larval stage, with Scer\GAL4^naz.PS

kcc^UAS.cHb

abnormal neurophysiology, with Scer\GAL4^Gli-rL82

kcc^HMS01058

abnormal neurophysiology, with Scer\GAL4^repo.PU

kcc^HMS01058

abnormal neurophysiology, with Scer\GAL4^shot-OK307

kcc^KK107965

abnormal neurophysiology | adult stage

abnormal neurophysiology | adult stage, with Scer\GAL4^tim.PE

kcc^UAS.B.cEa

abnormal neurophysiology | adult stage, with Scer\GAL4^tim.PE, Spyo\Cas9^UAS.P2

kcc^{UAS.3xgRNA.pCFD6}

abnormal neurophysiology | recessive

kcc^DHS1

abnormal osmotic stress response, with Scer\GAL4^Tsp42Ec

kcc^HMS01058

bang sensitive

kcc^DHS1

bang sensitive, with Scer\GAL4^alrm.PD

kcc^HMS01058

bang sensitive, with Scer\GAL4^c747

kcc^HMS01058

bang sensitive, with Scer\GAL4^ey-OK107

kcc^HMS01058

bang sensitive, with Scer\GAL4^Gli-rL82

kcc^HMS01058

bang sensitive, with Scer\GAL4^Mef2.247

kcc^HMS01058

bang sensitive, with Scer\GAL4^moody.PS

kcc^HMS01058

bang sensitive, with Scer\GAL4^Mz709

kcc^HMS01058

bang sensitive, with Scer\GAL4^nrv2.PS

kcc^HMS01058

bang sensitive, with Scer\GAL4^repo.PU

bang sensitive, with Scer\GAL4^shot-OK307

kcc^KK107965

bang sensitive, with Scer\GAL4^Tab2-201Y

kcc^HMS01058

bang sensitive (with kcc^Ad-4)

bang sensitive (with kcc^DHS1)

bang sensitive (with kcc^EY08304)

bang sensitive (with kcc^ML1)

bang sensitive (with kcc^P20-180)

kcc^DHS1

bang sensitive | recessive

decreased size | adult stage, with Scer\GAL4^Bx-MS1096

kcc^KK107965

paralytic

kcc^DHS1

paralytic, with Scer\GAL4^alrm.PD

kcc^HMS01058

paralytic, with Scer\GAL4^c747

kcc^HMS01058

paralytic, with Scer\GAL4^ey-OK107

kcc^HMS01058

paralytic, with Scer\GAL4^Gli-rL82

kcc^HMS01058

paralytic, with Scer\GAL4^Mef2.247

kcc^HMS01058

paralytic, with Scer\GAL4^moody.PS

kcc^HMS01058

paralytic, with Scer\GAL4^Mz709

kcc^HMS01058

paralytic, with Scer\GAL4^nrv2.PS

kcc^HMS01058

paralytic, with Scer\GAL4^repo.PU

paralytic, with Scer\GAL4^shot-OK307

kcc^KK107965

paralytic, with Scer\GAL4^Tab2-201Y

kcc^HMS01058

paralytic | recessive

kcc^DHS1

short lived, with Scer\GAL4^tim.PE

kcc^UAS.B.cEa

visible, with Scer\GAL4^Gli-rL82

kcc^HMS01058

Phenotype manifest in

Allele

abdominal nerve | third instar larval stage, with Scer\GAL4^elav-C155

kcc^KK107965

abdominal nerve | third instar larval stage, with Scer\GAL4^repo.PU

kcc^HMS01058

adult brain, with Scer\GAL4^ey-OK107

kcc^HMS01058

adult brain, with Scer\GAL4^repo.PU

kcc^HMS01058

adult brain, with Scer\GAL4^shot-OK307

kcc^KK107965

adult pacemaker neuron, with Scer\GAL4^ey-OK107

kcc^HMS01058

adult pacemaker neuron, with Scer\GAL4^shot-OK307

kcc^KK107965

astrocyte-like glial cell | first instar larval stage, with Scer\GAL4^naz.PS

kcc^UAS.cHb

dendrite, with Scer\GAL4^shot-OK307

kcc^KK107965

embryonic/larval midgut | larval stage, with Scer\GAL4^Tsp42Ec

kcc^HMS01058

giant fiber neuron, with Scer\GAL4^ey-OK107

kcc^HMS01058

giant fiber neuron, with Scer\GAL4^shot-OK307

kcc^KK107965

glial cell, with Scer\GAL4^repo.PU

kcc^HMS01058

neuropil | first instar larval stage, with Scer\GAL4^naz.PS

kcc^UAS.cHb

wing, with Scer\GAL4^Gli-rL82

kcc^HMS01058

wing blade, with Scer\GAL4^Bx-MS1096

kcc^KK107965

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) (9)

Hsap\SLC12A4

14 of 14

Yes

Hsap\SLC12A5

13 of 14

Yes

Hsap\SLC12A6

13 of 14

Yes

Hsap\SLC12A7

13 of 14

Yes

4 of 14

4 of 14

4 of 14

2 of 14

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) (9)

Rnor\Slc12a4

14 of 14

Yes

Rnor\Slc12a6

13 of 14

Yes

Rnor\Slc12a7

13 of 14

Yes

Rnor\Slc12a5

12 of 14

Yes

4 of 14

4 of 14

3 of 14

2 of 14

1 of 14

Mus musculus (laboratory mouse) (9)

Mmus\Slc12a4

14 of 14

Yes

Mmus\Slc12a5

13 of 14

Yes

Mmus\Slc12a6

13 of 14

Yes

Mmus\Slc12a7

13 of 14

Yes

4 of 14

4 of 14

4 of 14

2 of 14

1 of 14

Xenopus tropicalis (Western clawed frog) (14)

Xtro\slc12a4

11 of 13

Yes

Xtro\slc12a5

10 of 13

Yes

Xtro\slf2

9 of 13

Yes

Xtro\slc12a6

7 of 13

Yes

3 of 13

2 of 13

1 of 13

1 of 13

1 of 13

Yes

1 of 13

1 of 13

1 of 13

1 of 13

1 of 13

Danio rerio (Zebrafish) (17)

Drer\slc12a4

14 of 14

Yes

Drer\slc12a5a

13 of 14

Yes

Drer\slc12a5b

13 of 14

Yes

Drer\slc12a7a

13 of 14

Yes

Drer\slc12a7b

13 of 14

Yes

Drer\slc12a6

4 of 14

Yes

Drer\slc12a10.1

4 of 14

Drer\slc12a10.2

4 of 14

Drer\slc12a10.3

4 of 14

Drer\si:cabz01102082.1

3 of 14

Yes

3 of 14

3 of 14

3 of 14

1 of 14

1 of 14

1 of 14

1 of 14

Caenorhabditis elegans (Nematode, roundworm) (7)

Cele\kcc-2

13 of 14

Yes

Cele\kcc-3

8 of 14

Yes

Cele\kcc-1

7 of 14

Yes

2 of 14

2 of 14

2 of 14

1 of 14

Anopheles gambiae (African malaria mosquito) (8)

Agam\AgaP_AGAP011498

6 of 12

Yes

Agam\AgaP_AGAP011499

6 of 12

Yes

4 of 12

4 of 12

3 of 12

3 of 12

Yes

Agam\AgaP_AGAP006249

2 of 12

Agam\AgaP_AGAP010249

2 of 12

Arabidopsis thaliana (thale-cress) (1)

Atha\CCC1

12 of 13

Yes

Saccharomyces cerevisiae (Brewer's yeast) (1)

Scer\VHC1

1 of 13

Yes

Schizosaccharomyces pombe (Fission yeast) (1)

Spom\can1

1 of 12

Yes

Escherichia coli (enterobacterium) (0)

Other Organism Orthologs (via OrthoDB)

Data provided directly from OrthoDB:kcc. 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) (4)

5 of 13

4 of 13

4 of 13

4 of 13

Human Disease Associations

FlyBase Human Disease Model Reports

epilepsy, SLC12A5-related

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 3 )

Allele

Disease

Evidence

References

kcc^HMS01058

model of epilepsy

CEA

(Rusan et al., 2014)

kcc^KK107965

model of epilepsy

CEA

(Rusan et al., 2014)

kcc^DHS1

model of epilepsy

CEA

(Rusan et al., 2014, Hekmat-Scafe et al., 2006)

Potential Models Based on Orthology ( 3 )

Human Ortholog

Disease

Evidence

References

SLC12A6; solute carrier family 12 member 6

model of agenesis of the corpus callosum with peripheral neuropathy

IEA

(FlyBase, 2019-)

SLC12A5; solute carrier family 12 member 5

model of developmental and epileptic encephalopathy 34

IEA

(FlyBase, 2019-)

model of idiopathic generalized epilepsy 14

IEA

(FlyBase, 2019-)

Modifiers Based on Experimental Evidence ( 2 )

Allele

Disease

Interaction

References

kcc^UAS.cHb

ameliorates epilepsy

modeled by eas²

(Hekmat-Scafe et al., 2010)

modeled by para^bss1

(Hekmat-Scafe et al., 2010)

kcc^DHS1

model of epilepsy

is ameliorated by Rdl¹

(Hekmat-Scafe et al., 2006)

is ameliorated by Gad1^L352F

(Hekmat-Scafe et al., 2006)

is ameliorated by Hsap\SLC12A5^UAS.cHa

(Hekmat-Scafe et al., 2010)

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?

SLC12A4; solute carrier family 12 member 4

14 of 14

604119

SLC12A5; solute carrier family 12 member 5

13 of 14

606726

SLC12A6; solute carrier family 12 member 6

13 of 14

604878

agenesis of the corpus callosum with peripheral neuropathy

SLC12A7; solute carrier family 12 member 7

13 of 14

604879

SLC12A1; solute carrier family 12 member 1

4 of 14

600839

BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1

Bartter disease type 1

SLC12A2; solute carrier family 12 member 2

4 of 14

600840

autosomal dominant nonsyndromic deafness 78

SLC12A3; solute carrier family 12 member 3

4 of 14

600968

GITELMAN SYNDROME; GTLMNS

Gitelman syndrome

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.

Dmel gene

Ortholog showing functional complementation

Supporting References

anti tag coimmunoprecipitation, peptide massfingerprinting

Hsap\SLC12A5

(Hekmat-Scafe et al., 2010)

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)

Other Interaction Browsers

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

Please see the Physical Interaction reports below for full details

protein-protein

Physical Interaction

Assay

References

kcc - fj

(Kwon et al., 2013)

Summary of Genetic Interactions

esyN Network Diagram

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

esyN Network Key:

Suppression

Enhancement

Other 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

enhanceable

eas

(Hekmat-Scafe et al., 2006)

enhanceable

jbug

(Hekmat-Scafe et al., 2006)

enhanceable

jus

(Hekmat-Scafe et al., 2006)

suppressible

Ncc69

(Hekmat-Scafe et al., 2010)

enhanceable

para

(Hekmat-Scafe et al., 2006)

suppressible

Rdl

(Hekmat-Scafe et al., 2010, Hekmat-Scafe et al., 2006)

suppressible

tau

(Holth et al., 2013)

Starting gene(s)

Interaction type

Interacting gene(s)

Reference

eas

suppressible

(Hekmat-Scafe et al., 2010)

jus

enhanceable

(Zhang et al., 2002)

Ncc69

suppressible

(Schellinger et al., 2022)

para

suppressible