Slc12a2 MGI Mouse Gene Detail - MGI:101924 - solute carrier family 12, member 2

Symbol

Slc12a2
Name

solute carrier family 12, member 2
Synonyms

mBSC2, Nkcc1, sodium/potassium/chloride cotransporters, sy-ns

Feature Type

protein coding gene
IDs

MGI:101924
NCBI Gene: 20496
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr18:58011750-58079893 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 32.15 cM
Mapping Data

8 experiments

SNPs within 2kb

1700 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_101924	protein coding gene	Chr18:58011505-58079893 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024451	protein coding gene	Chr18:57342954-57425806 (+)
A/J	MGP_AJ_G0024417	protein coding gene	Chr18:55064299-55132327 (+)
AKR/J	MGP_AKRJ_G0024387	protein coding gene	Chr18:56598466-56665806 (+)
BALB/cJ	MGP_BALBcJ_G0024417	protein coding gene	Chr18:55232310-55300784 (+)
C3H/HeJ	MGP_C3HHeJ_G0024184	protein coding gene	Chr18:56777796-56846741 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024863	protein coding gene	Chr18:59164064-59237020 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022295	protein coding gene	Chr18:54652915-54720476 (+)
CAST/EiJ	MGP_CASTEiJ_G0023658	protein coding gene	Chr18:56816404-56886706 (+)
CBA/J	MGP_CBAJ_G0024154	protein coding gene	Chr18:61028108-61102644 (+)
DBA/2J	MGP_DBA2J_G0024284	protein coding gene	Chr18:54751213-54820702 (+)
FVB/NJ	MGP_FVBNJ_G0024251	protein coding gene	Chr18:54139369-54207836 (+)
LP/J	MGP_LPJ_G0024369	protein coding gene	Chr18:57294852-57364345 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024281	protein coding gene	Chr18:62614725-62684605 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024910	protein coding gene	Chr18:56701086-56774021 (+)
PWK/PhJ	MGP_PWKPhJ_G0023402	protein coding gene	Chr18:54785924-54853595 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023208	protein coding gene	Chr18:56788494-56854974 (+)
WSB/EiJ	MGP_WSBEiJ_G0023721	protein coding gene	Chr18:56613234-56682437 (+)

Human Ortholog

SLC12A2, solute carrier family 12 member 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SLC12A2, solute carrier family 12 member 2
Synonyms

BSC, BSC-2, BSC2, CCC1, hNKCC1, KILQS, NKCC1, PPP1R141
Links

HGNC:10911

NCBI Gene ID: 6558

neXtProt AC: NX_P55011

UniProt: P55011
Chr Location

5q23.3; chr5:128083766-128189677 (+) GRCh38

MGI Vertebrate Homology

Slc12a2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SLC12A2
Gene Tree

Slc12a2

Diseases

1 with human SLC12A2 associations

				Human Disease	Mouse Models
				autosomal dominant nonsyndromic deafness 78 IDs autosomal dominant nonsyndromic deafness 78 DOID:0112159 OMIM:619081

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

References

1 with disease annotations

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Phenotype Summary

89 phenotypes from 9 alleles in 13 genetic backgrounds
4 phenotypes from multigenic genotypes
6 images
85 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

20
Chemically induced (ENU)

1
Endonuclease-mediated

6
Gene trapped

2
Radiation induced

1
Spontaneous

2
Targeted

8
Genomic Mutations

1 involving Slc12a2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

58 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutants show variably severe deafness, head-shaking, circling, reduced endolymph secretion, male sterility, growth retardation, hypotension, reduced salivation, delayed ductal outgrowth of mammary epithelium and increased periweaning mortality.

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All GO Annotations

73
GO References

16

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

985
Tissues

129
cDNA Data

221
Literature Summary

41

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase slc12a2

ZFIN slc12a2

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All Sequences

41
RefSeq

5
UniProt

3
CCDS

CCDS37826.1

Ensembl

ENSMUSG00000024597 (Evidence)
NCBI Gene

20496

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024597	Ensembl Gene Model \| MGI Sequence Detail	68144	C57BL/6J	± kb
transcript	ENSMUST00000115366	Ensembl \| MGI Sequence Detail	6520	Not Applicable
polypeptide	ENSMUSP00000111023	Ensembl \| MGI Sequence Detail	1206	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000014925 solute carrier family 12 member 2

(term hierarchy)
InterPro Domains

IPR013612 Amino acid permease, N-terminal

IPR004841 Amino acid permease/ SLC12A domain

IPR018491 SLC12A transporter, C-terminal

IPR004842 SLC12A transporter family

IPR002443 Solute carrier family 12 member 1/2

IPR002444 Solute carrier family 12 member 2
GlyGen

P55012 3 sites, 3 N-linked glycans (3 sites)

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All nucleic 232

Genomic 1

cDNA 222

Primer pair 6

Other 3

Microarray probesets 2

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MGD-MRK-18753

Summaries

All 187

Developmental Gene Expression 41

Diseases 1

Gene Ontology 16

Phenotypes 85
Earliest

J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80(1):220-246
Latest

J:353356 da Cunha Menezes E, et al., Effects of gestational hypothyroidism on mouse brain development: Gabaergic systems and oxidative stress. Dev Biol. 2024 Nov;515:112-120

TSS for Slc12a2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr5332	Chr18:58011363-58011381 (+)	-378 bp
Tssr151207	Chr18:58011668-58011679 (+)	-76 bp
Tssr151208	Chr18:58011692-58011709 (+)	-49 bp
Tssr5333	Chr18:58045070-58045090 (+)	33,330 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24