Clcn7 MGI Mouse Gene Detail - MGI:1347048 - chloride channel, voltage-sensitive 7

Symbol

Clcn7
Name

chloride channel, voltage-sensitive 7
Synonyms

ClC-7

Feature Type

protein coding gene
IDs

MGI:1347048
NCBI Gene: 26373
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr17:25352365-25381078 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 12.53 cM, cytoband A3.3
Mapping Data

5 experiments

SNPs within 2kb

693 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1347048	protein coding gene	Chr17:25352353-25381078 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023340	protein coding gene	Chr17:24175196-24204427 (+)
A/J	MGP_AJ_G0023299	protein coding gene	Chr17:23501801-23530155 (+)
AKR/J	MGP_AKRJ_G0023265	protein coding gene	Chr17:23592787-23621014 (+)
BALB/cJ	MGP_BALBcJ_G0023304	protein coding gene	Chr17:23697324-23726726 (+)
C3H/HeJ	MGP_C3HHeJ_G0023064	protein coding gene	Chr17:23966705-23997542 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023747	protein coding gene	Chr17:25235460-25268794 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021222	protein coding gene	Chr17:20957853-20990733 (+)
CAST/EiJ	MGP_CASTEiJ_G0022566	protein coding gene	Chr17:23812933-23844377 (+)
CBA/J	MGP_CBAJ_G0023039	protein coding gene	Chr17:26095539-26126085 (+)
DBA/2J	MGP_DBA2J_G0023169	protein coding gene	Chr17:23090047-23118439 (+)
FVB/NJ	MGP_FVBNJ_G0023139	protein coding gene	Chr17:22811041-22840008 (+)
LP/J	MGP_LPJ_G0023246	protein coding gene	Chr17:24469748-24497936 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023158	protein coding gene	Chr17:25761459-25789844 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023786	protein coding gene	Chr17:23875241-23903603 (+)
PWK/PhJ	MGP_PWKPhJ_G0022315	protein coding gene	Chr17:21848375-21880042 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022133	protein coding gene	Chr17:21937995-21976866 (+)
WSB/EiJ	MGP_WSBEiJ_G0022629	protein coding gene	Chr17:23946629-23974853 (+)

Human Ortholog

CLCN7, chloride voltage-gated channel 7

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CLCN7, chloride voltage-gated channel 7
Synonyms

CLC-7, CLC7, HOD, OPTA2, OPTB4, PPP1R63
Links

HGNC:2025

NCBI Gene ID: 1186

neXtProt AC: NX_P51798

UniProt: P51798
Chr Location

16p13.3; chr16:1444934-1475077 (-) GRCh38

MGI Vertebrate Homology

Clcn7 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CLCN7
Gene Tree

Clcn7

Diseases

2 with Clcn7 mouse models; 2 with human CLCN7 associations

Human Disease

Mouse Models

autosomal dominant osteopetrosis 2

IDs

View 7 models

autosomal recessive osteopetrosis 4

IDs

View 2 models

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

Mutations/Alleles

6 with disease annotations

References

4 with disease annotations

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Phenotype Summary

85 phenotypes from 11 alleles in 18 genetic backgrounds
1 phenotype from multigenic genotypes
33 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

23
Endonuclease-mediated

4
Gene trapped

5
Radiation induced

2
Targeted

12
Genomic Mutations

2 involving Clcn7
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

42 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells.

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All GO Annotations

13
GO References

8

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

801
Tissues

28
cDNA Data

124
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase clcn7

ZFIN clcn7

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All Sequences

115
RefSeq

6
UniProt

8
CCDS

CCDS28509.1, CCDS84282.1

Ensembl

ENSMUSG00000036636 (Evidence)
NCBI Gene

26373

			Length	Strain/Species	Flank
genomic	ENSMUSG00000036636	Ensembl Gene Model \| MGI Sequence Detail	28714	C57BL/6J	± kb
transcript	ENSMUST00000162862	Ensembl \| MGI Sequence Detail	4237	Not Applicable
polypeptide	ENSMUSP00000124527	Ensembl \| MGI Sequence Detail	860	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000005534 H(+)/Cl(-) exchange transporter 7

(term hierarchy)
InterPro Domains

IPR000644 CBS domain

IPR046342 CBS domain superfamily

IPR002249 Chloride channel ClC-7

IPR014743 Chloride channel, core

IPR001807 Chloride channel, voltage gated

IPR051280 Voltage-gated chloride channel/antiporter
GlyGen

O70496 1 site, 1 N-linked glycan (1 site)

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All nucleic 128

Genomic 1

cDNA 124

Primer pair 3

Microarray probesets 7

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MGD-MRK-33977, MGI:106285, MGI:2146761, MGI:2147072

Summaries

All 75

Developmental Gene Expression 6

Diseases 4

Gene Ontology 8

Phenotypes 33
Earliest

J:50869 Ko MSH, et al., Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Hum Mol Genet. 1998 Nov;7(12):1967-78
Latest

J:330025 Alam I, et al., Bone marrow transplantation as a therapy for autosomal dominant osteopetrosis type 2 in mice. FASEB J. 2022 Sep;36(9):e22471

TSS for Clcn7:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr143131	Chr17:25352359-25352408 (+)	19 bp
Tssr143132	Chr17:25352415-25352434 (+)	60 bp
Tssr143133	Chr17:25354920-25354925 (+)	2,558 bp
Tssr143134	Chr17:25355394-25355439 (+)	3,052 bp
Tssr143135	Chr17:25355582-25355591 (+)	3,222 bp
Tssr143136	Chr17:25355634-25355638 (+)	3,271 bp
Tssr143137	Chr17:25355680-25355693 (+)	3,322 bp
Tssr143138	Chr17:25358902-25358912 (+)	6,542 bp
Tssr143139	Chr17:25364540-25364589 (+)	12,200 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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