Slc12a8 MGI Mouse Gene Detail - MGI:2443672 - solute carrier family 12 (potassium/chloride transporters), member 8

Symbol

Slc12a8
Name

solute carrier family 12 (potassium/chloride transporters), member 8
Synonyms

E330020C02Rik

Feature Type

protein coding gene
IDs

MGI:2443672
NCBI Gene: 171286
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr16:33337698-33484505 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 24.12 cM
Mapping Data

1 experiment

SNPs within 2kb

4517 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2443672	protein coding gene	Chr16:33337440-33484508 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022756	protein coding gene	Chr16:31729844-31879451 (+)
A/J	MGP_AJ_G0022721	protein coding gene	Chr16:30206566-30350595 (+)
AKR/J	MGP_AKRJ_G0022694	protein coding gene	Chr16:31274471-31421111 (+)
BALB/cJ	MGP_BALBcJ_G0022723	protein coding gene	Chr16:30315588-30461800 (+)
C3H/HeJ	MGP_C3HHeJ_G0022488	protein coding gene	Chr16:31398460-31549495 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023172	protein coding gene	Chr16:32425655-32585204 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020690	protein coding gene	Chr16:30543417-30695708 (+)
CAST/EiJ	MGP_CASTEiJ_G0022016	protein coding gene	Chr16:31564468-31727361 (+)
CBA/J	MGP_CBAJ_G0022458	protein coding gene	Chr16:33725688-33885825 (+)
DBA/2J	MGP_DBA2J_G0022591	protein coding gene	Chr16:30022476-30175038 (+)
FVB/NJ	MGP_FVBNJ_G0022566	protein coding gene	Chr16:30016663-30165814 (+)
LP/J	MGP_LPJ_G0022658	protein coding gene	Chr16:31462575-31613555 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022585	protein coding gene	Chr16:33113215-33268823 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023184	protein coding gene	Chr16:31277141-31428912 (+)
PWK/PhJ	MGP_PWKPhJ_G0021757	protein coding gene	Chr16:30408833-30548742 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021586	protein coding gene	Chr16:31063172-31218420 (+)
WSB/EiJ	MGP_WSBEiJ_G0022060	protein coding gene	Chr16:31241579-31393629 (+)

Human Ortholog

SLC12A8, solute carrier family 12 member 8

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SLC12A8, solute carrier family 12 member 8
Synonyms

CCC9
Links

HGNC:15595

NCBI Gene ID: 84561

neXtProt AC: NX_A0AV02

UniProt: A0AV02
Chr Location

3q21.2; chr3:125082636-125212864 (-) GRCh38

MGI Vertebrate Homology

Slc12a8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SLC12A8
Gene Tree

Slc12a8

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Phenotype Summary

3 phenotypes from 2 alleles in 2 genetic backgrounds
5 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

21
Endonuclease-mediated

2
Gene trapped

19
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

32 strains or lines available
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for a null allele exhibit some prenatal lethality and reduced NAD+ levels in the jejunum and ileum.

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All GO Annotations

11
GO References

6

Molecular Function

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

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	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

840
Tissues

130
cDNA Data

30
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase slc12a8

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All Sequences

71
RefSeq

26
UniProt

4
CCDS

CCDS37317.1, CCDS49834.1

Ensembl

ENSMUSG00000035506 (Evidence)
NCBI Gene

171286

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035506	Ensembl Gene Model \| MGI Sequence Detail	146808	C57BL/6J	± kb
transcript	ENSMUST00000059056	Ensembl \| MGI Sequence Detail	3166	Not Applicable
polypeptide	ENSMUSP00000062337	Ensembl \| MGI Sequence Detail	705	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000014931 solute carrier family 12 member 8

(term hierarchy)
InterPro Domains

IPR004841 Amino acid permease/ SLC12A domain

IPR004842 SLC12A transporter family

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All nucleic 31

cDNA 30

Primer pair 1

Microarray probesets 4

Summaries

All 32

Developmental Gene Expression 3

Gene Ontology 6

Phenotypes 5
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:333074 Ito N, et al., Slc12a8 in the lateral hypothalamus maintains energy metabolism and skeletal muscle functions during aging. Cell Rep. 2022 Jul 26;40(4):111131

TSS for Slc12a8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr138092	Chr16:33338559-33338577 (+)	870 bp
Tssr138093	Chr16:33338673-33338710 (+)	994 bp
Tssr138094	Chr16:33338898-33338912 (+)	1,207 bp
Tssr138095	Chr16:33338919-33338929 (+)	1,226 bp
Tssr138096	Chr16:33344046-33344065 (+)	6,358 bp
Tssr138097	Chr16:33344069-33344100 (+)	6,387 bp
Tssr138098	Chr16:33414761-33414770 (+)	77,068 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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