Slc12a6 MGI Mouse Gene Detail - MGI:2135960 - solute carrier family 12, member 6

Slc12a6 Gene Detail

Symbol

Slc12a6
Name

solute carrier family 12, member 6
Synonyms

gaxp, KCC3

Feature Type

protein coding gene
IDs

MGI:2135960
NCBI Gene: 107723
Gene Overview

MyGene.info: SLC12A6

Sequence Map

Chr2:112265825-112363163 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
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Sequence

97339 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 56.99 cM
Mapping Data

2 experiments

Human Ortholog

SLC12A6, solute carrier family 12 member 6

Vertebrate Orthologs

9

Human Ortholog

SLC12A6, solute carrier family 12 member 6
Orthology source: HomoloGene, HGNC
Synonyms

ACCPN, KCC3, KCC3A, KCC3B
Links

HGNC:10914

NCBI Gene ID: 9990

neXtProt AC: NX_Q9UHW9

UniProt: Q9UHW9
Chr Location

15q14; chr15:34229996-34338064 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 21069
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: SLC12A6
Gene Tree

Slc12a6

Diseases

1 with Slc12a6 mouse models

Human Disease

Mouse Models

hereditary motor and sensory neuropathy with agenesis of the corpus callosum

IDs

View 3 models

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

3 with disease annotations

References

3 with disease annotations

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Phenotype Summary

57 phenotypes from 8 alleles in 13 genetic backgrounds
3 images
25 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

15
Chemically induced (other)

1
Gene trapped

2
Radiation induced

1
Spontaneous

1
Targeted

10
Genomic Mutations

2 involving Slc12a6
Incidental Mutations

APF
Find Mice (IMSR)

94 strains or lines available

Homozygotes for targeted null mutations exhibit locomotor deficits, progressive neurodegeneration, slow progressive deafness and failure to breed.

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All GO Annotations

16
GO References

5

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

18
Tissues

3
cDNA Data

8
Literature Summary

7

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase slc12a6

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Slc12a6 interacts with 384 markers (Mir1a-1, Mir1a-2, Mir7-1, ...) View All

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All Sequences

46
RefSeq

8
UniProt

1
CCDS

CCDS16551.1, CCDS16552.1

			Length	Strain/Species	Flank
genomic	OTTMUSG00000015141	VEGA Gene Model \| MGI Sequence Detail	97339	C57BL/6J	± kb
transcript	OTTMUST00000035915	VEGA \| MGI Sequence Detail	6105	Not Applicable
polypeptide	OTTMUSP00000016121	VEGA \| MGI Sequence Detail	1150	Not Applicable

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SNPs within 2kb

314 from dbSNP Build 142

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UniProt

1 Sequence
Protein Ontology

PR:000014929 solute carrier family 12 member 6

(term hierarchy)

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All nucleic 9

cDNA 8

Primer pair 1

Microarray probesets 6

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MGI:2447470

Summaries

All 56

Developmental Gene Expression 7

Diseases 3

Gene Ontology 5

Phenotypes 25
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:238231 Sun YT, et al., KCC3 deficiency-induced disruption of paranodal loops and impairment of axonal excitability in the peripheral nervous system. Neuroscience. 2016 Oct 29;335:91-102

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 08/08/2017 MGI 6.10