Slc12a7 MGI Mouse Gene Detail - MGI:1342283 - solute carrier family 12, member 7

Symbol

Slc12a7
Name

solute carrier family 12, member 7
Synonyms

Kcc4

Feature Type

protein coding gene
IDs

MGI:1342283
NCBI Gene: 20499
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr13:73881213-73964873 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 40.15 cM, cytoband C1
Mapping Data

3 experiments

SNPs within 2kb

2448 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1342283	protein coding gene	Chr13:73881172-73964873 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020751	protein coding gene	Chr13:74242825-74298989 (+)
A/J	MGP_AJ_G0020707	protein coding gene	Chr13:71586002-71641440 (+)
AKR/J	MGP_AKRJ_G0020681	protein coding gene	Chr13:73838479-73894449 (+)
BALB/cJ	MGP_BALBcJ_G0020704	protein coding gene	Chr13:72077928-72131305 (+)
C3H/HeJ	MGP_C3HHeJ_G0020498	protein coding gene	Chr13:73519094-73573295 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021141	protein coding gene	Chr13:76707726-76760603 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018708	protein coding gene	Chr13:68416714-68469344 (+)
CAST/EiJ	MGP_CASTEiJ_G0020015	protein coding gene	Chr13:72563962-72666170 (+)
CBA/J	MGP_CBAJ_G0020457	protein coding gene	Chr13:79558594-79611643 (+)
DBA/2J	MGP_DBA2J_G0020582	protein coding gene	Chr13:71407378-71460791 (+)
FVB/NJ	MGP_FVBNJ_G0020562	protein coding gene	Chr13:70431556-70485489 (+)
LP/J	MGP_LPJ_G0020655	protein coding gene	Chr13:74482638-74536634 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020590	protein coding gene	Chr13:77986755-78042476 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021180	protein coding gene	Chr13:73146191-73200672 (+)
PWK/PhJ	MGP_PWKPhJ_G0019769	protein coding gene	Chr13:70116189-70221030 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019592	protein coding gene	Chr13:69616312-69672665 (+)
WSB/EiJ	MGP_WSBEiJ_G0020073	protein coding gene	Chr13:73698485-73754988 (+)

Human Ortholog

SLC12A7, solute carrier family 12 member 7

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SLC12A7, solute carrier family 12 member 7
Synonyms

KCC4
Links

HGNC:10915

NCBI Gene ID: 10723

neXtProt AC: NX_Q9Y666

UniProt: Q9Y666
Chr Location

5p15.33; chr5:1050384-1155899 (-) GRCh38

MGI Vertebrate Homology

Slc12a7 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SLC12A7
Gene Tree

Slc12a7

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Phenotype Summary

16 phenotypes from 3 alleles in 3 genetic backgrounds
17 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

44
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

36
Targeted

3
Genomic Mutations

1 involving Slc12a7
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

67 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Hearing is severely impaired in homozygous mutant mice, which also exhibit renal tubular acidosis.

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All GO Annotations

22
GO References

13

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

715
Tissues

2
cDNA Data

19
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN slc12a7a, slc12a7b

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All Sequences

77
RefSeq

14
UniProt

3
CCDS

CCDS26635.1

Ensembl

ENSMUSG00000017756 (Evidence)
NCBI Gene

20499

			Length	Strain/Species	Flank
genomic	ENSMUSG00000017756	Ensembl Gene Model \| MGI Sequence Detail	83661	C57BL/6J	± kb
transcript	ENSMUST00000017900	Ensembl \| MGI Sequence Detail	5142	Not Applicable
polypeptide	ENSMUSP00000017900	Ensembl \| MGI Sequence Detail	1083	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000014930 solute carrier family 12 member 7

(term hierarchy)
PDB

6UKN
InterPro Domains

IPR004841 Amino acid permease/ SLC12A domain

IPR000076 K/Cl co-transporter

IPR018491 SLC12A transporter, C-terminal

IPR004842 SLC12A transporter family
GlyGen

Q9WVL3 7 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (2 sites)

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All nucleic 22

cDNA 21

Primer pair 1

Microarray probesets 5

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MGI:2145148

Summaries

All 55

Developmental Gene Expression 3

Gene Ontology 13

Phenotypes 17
Earliest

J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Slc12a7:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr120333	Chr13:73881170-73881222 (+)	-17 bp
Tssr120334	Chr13:73911312-73911317 (+)	30,102 bp
Tssr120335	Chr13:73911799-73911882 (+)	30,628 bp
Tssr120336	Chr13:73918350-73918371 (+)	37,148 bp
Tssr120337	Chr13:73921015-73921035 (+)	39,812 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 11/19/2024 MGI 6.24