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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CLCN7 Gene

protein-coding GIFtS: 63
GCID: GC16M001494

chloride channel, voltage-sensitive 7

(Previous name: chloride channel 7 )

Explore 13 diseases affiliated with
CLCN7 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Chloride Channel, Voltage-Sensitive 7¹ ²		Chloride Channel 7 Alpha Subunit² ³
CLC7¹ ² ⁵		Chloride Channel Protein 7² ³
OPTA2¹ ² ⁵		OPTB4² ⁵
CLC-7¹ ²		Chloride Channel 7¹
PPP1R63¹ ²		H(+)/Cl(-) Exchange Transporter 7²
ClC-7¹ ³		Protein Phosphatase 1, Regulatory Subunit 63²

External Ids:	HGNC: 2025¹	Entrez Gene: 1186²	Ensembl: ENSG00000103249⁷	OMIM: 602727⁵	UniProtKB: P51798³

Export aliases for CLCN7 gene to outside databases

Previous GC identifers: GC16M001512 GC16M001435 GC16M001421

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CLCN7:

The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles

in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are

the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as

well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg

disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense

bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in

adolescence or adulthood. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CLCN7_HUMAN, P51798

Function: Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter

and contributes to the acidification of the lysosome lumen

Gene Wiki entry for CLCN7

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CLCN7 gene promoter:
AML1a Pax-5 SREBP-1c c-Ets-1 SREBP-1b AREB6 SREBP-1a POU2F1 POU2F1a ZID
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CLCN7 promoter sequence

Search SABiosciences Chromatin IP Primers for CLCN7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLCN7

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13

CLCN7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLCN7 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M001494: view genomic region (about GC identifiers)

Start:	1,494,935 bp from pter	End:	1,525,581 bp from pter
Size:	30,647 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CLCN7_HUMAN, P51798 (See protein sequence)

Recommended Name: H(+)/Cl(-) exchange transporter 7

Size: 805 amino acids; 88679 Da

Subunit: Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits

Subcellular location: Lysosome membrane; Multi-pass membrane protein

Miscellaneous: The CLC channel family contains both chloride channels and proton-coupled anion transporters that

exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for

family members that function as antiporters (By similarity)

Secondary accessions: A6NEJ7 A8K5T9 A8K7X1 B3KPN3 E9PDB9 Q9NYX5

Alternative splicing: 2 isoforms: P51798-1 P51798-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CLCN7: NX_P51798

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P51798

CLCN7 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001107803.1 NP_001278.1

ENSEMBL proteins:

ENSP00000372193 ENSP00000262318 ENSP00000456857 ENSP00000461009 ENSP00000454845

ENSP00000410907

Reactome Protein details: P51798
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
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	Uscn Proteins for CLCN7

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005765	lysosomal membrane	IEA	--
GO:0016020	membrane	--	--
GO:0016021	integral to membrane	IEA	--
GO:0031410	cytoplasmic vesicle	IEA	--

CLCN7 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for CLCN7

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CLCN7 for domains About GeneDecksing

4 InterPro domains/families:

IPR014743 Cl-channel_core

IPR000644 Cysta_beta_synth_core

IPR002249 Cl_channel-7

IPR001807 Cl-channel_volt-gated

Graphical View of Domain Structure for InterPro Entry P51798

ProtoNet protein and cluster: P51798

3 Blocks protein families:

IPB000644 CBS domain

IPB001807 Chloride channel signature

IPB002249 CLC-7 chloride channel signature

UniProtKB/Swiss-Prot: CLCN7_HUMAN, P51798

Similarity: Belongs to the chloride channel (TC 2.A.49) family. ClC-7/CLCN7 subfamily

Similarity: Contains 2 CBS domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CLCN7_HUMAN, P51798

Function: Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter

and contributes to the acidification of the lysosome lumen

Genatlas biochemistry entry for CLCN7:

chloride voltage-gated channel 7,89kDa,widely expressed

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCN7

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005247	voltage-gated chloride channel activity	IEA	--
GO:0005254	chloride channel activity	TAS	8543009
GO:0005515	protein binding	--	--
GO:0005524	ATP binding	IEA	--
GO:0015297	antiporter activity	IEA	--

CLCN7 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CLCN7:

Decreased G3BP1 protein expres

Animal Models:
Mouse knock-out Clcn7^tm1Tjj for CLCN7
15 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Clcn7):

behavior/neurological	cellular	craniofacial	growth/size	hematopoietic system
immune system	integument	limbs/digits/tail	mortality/aging	nervous system
pigmentation	renal/urinary system	respiratory system	skeleton	vision/eye

CLCN7 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			PKA Signaling	0.56
	cAMP Pathway	0.77

Ion channel transport

Ion channel transport

1.00

Stimuli-sensing channels

0.49

Hepatic ABC Transporters

Hepatic ABC Transporters

1.00

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

Neuropathic Pain-Signaling in Dorsal Horn Neurons

Cholera Infection

0.40

Pathway sources
See GeneCards unified pathways
Show all pathways

5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CLCN7

	Cholera Infection
	Hepatic ABC Transporters
	PKA Signaling
	cAMP Pathway
	Activation of cAMP-Dependent PKA

3 Reactome Pathways for CLCN7

	Transmembrane transport of small molecules
	Stimuli-sensing channels
	Ion channel transport

CLCN7 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CLCN7

5 Interacting proteins for CLCN7 (P51798^{2, 3}) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
OSTM1	Q86WC4³	I2D: score=2
PACS1	Q6VY07³	I2D: score=2
CREB3	O43889³	I2D: score=1
LAMP2	P13473²	MINT-8188417
--	Q8BGT0²	MINT-8188417

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	8543009
GO:0006821	chloride transport	--	--
GO:0009268	response to pH	IEA	--

CLCN7 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CLCN7 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CLCN7

1 HMDB Compound for CLCN7 About this table

Compound	Synonyms	CAS #	PubMed Ids
Chlorine	Cl2 (see all 13)	16887-00-6	--

3 Novoseek chemical compound relationships for CLCN7 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
chloride	70.9	18	12929941 (3), 15177004 (1), 17164308 (1), 15633192 (1) (see all 11)
valine	36.4	2	16234969 (1), 16120485 (1)
methionine	24.2	1	16120485 (1)

Search CenterWatch for drugs/clinical trials and news about CLCN7

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CLCN7 gene (2 alternative transcripts):

NM_001114331.2 NM_001287.5

Unigene Cluster for CLCN7:

Chloride channel, voltage-sensitive 7

Hs.459649 [show with all ESTs]

Unigene Representative Sequence: AK122944

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000563642(uc002clu.2) ENST00000382745(uc002clv.2) ENST00000565092

ENST00000262318 ENST00000565596 ENST00000567836 ENST00000567789 ENST00000563822

ENST00000569851 ENST00000564968 ENST00000561665 ENST00000567139 ENST00000564568

ENST00000566812 ENST00000448525(uc002clw.2)

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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CLCN7

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CLCN7

Additional cDNA sequence:

AF224741.1 AK056551.1 AK122944.1 AK130196.1 AK291404.1 AK292136.1 AK304796.1 AK315978.1

BC004946.1 BC006158.1 BC012737.2 BC015235.1 BC109196.1 U88844.1 Z67743.1

24/25 DOTS entries (see all 25):

DT.442877 DT.99989165 DT.91773591 DT.120656648 DT.100679161 DT.100820094 DT.91773590 DT.95261026

DT.86858970 DT.100030632 DT.97807468 DT.100705311 DT.100820095 DT.100820091 DT.100820092 DT.100820093

DT.102827919 DT.120656653 DT.120656683 DT.120656690 DT.120656691 DT.120656705 DT.91773588 DT.95261041

24/52 AceView cDNA sequences (see all 52):

CR613527 CD611168 BC012737 CD611171 CR604762 NM_001287 BE247077 Z67743

BC015235 AW296013 BF842485 BE247138 U88844 AK122944 CD611172 BM150421

BC004946 AK056551 AK096963 AK130196 CD611158 BC006158 AK128285 AF224741

GeneLoc Exon Structure

5/15 Alternative Splicing Database (ASD) splice patterns (SP) for CLCN7 (see all 15) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8a	·	8b	·	8c	^	9	^	10a	·	10b	·	10c	^	11a	·	11b	^	12	^	13a	·	13b	^	14a	·	14b	^	15	^	16	^
SP1:							-		-		-														-				-		-						-										-
SP2:							-		-		-		-												-				-		-						-										-
SP3:
SP4:
SP5:

ExUns:	17	^	18	^	19a	·	19b	^	20	^	21a	·	21b	·	21c	^	22a	·	22b	^	23a	·	23b	^	24	^	25a	·	25b	·	25c	^	26	^	27	^	28	^	29a	·	29b	·	29c	·	29d
SP1:					-				-		-				-		-				-						-				-
SP2:					-				-		-				-		-				-						-				-
SP3:									-		-										-						-				-
SP4:																											-				-
SP5:																															-

ECgene alternative splicing isoforms for CLCN7

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CLCN7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGACCCCGG

About this image

CLCN7 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CLCN7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CLCN7

SOURCE GeneReport for Unigene cluster: Hs.459649

UniProtKB/Swiss-Prot: CLCN7_HUMAN, P51798

Tissue specificity: Brain, testis, muscle and kidney

SABiosciences Expression via Pathway-Focused PCR Array including CLCN7:

Neuronal Ion Channels in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCN7

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for CLCN7 gene from 9/32 species (see all 32) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CLCN7¹	chloride channel 7	80.97(n) 87.83(a)		416656 NM_001030644.1 NP_001025815.1
lizard (Anolis carolinensis)	Reptilia	CLCN7⁶ --	--	82(a) 33(a)	1 ↔ 1 possible ortholog	GL343691.1(146104-171995) GL343207.1(1434237-1462800)
African clawed frog (Xenopus laevis)	Amphibia	CB945230.1²	--	78.85(n)		CB945230.1
zebrafish (Danio rerio)	Actinopterygii	BM958349.1²	--	76.44(n)		BM958349.1
fruit fly (Drosophila melanogaster)	Insecta	CG8594³ ClC-b¹	chloride channel³ Chloride channel-b¹	50(a)³ 55.56(n)¹ 51.67(a)¹		49B5³ 36381¹ NM_136954.3¹ NP_610798.1¹
worm (Caenorhabditis elegans)	Secernentea	clh-6^{1 , 3}	chloride channel³ Protein CLH-6¹	48(a)³ 50.87(n)¹ 50.78(a)¹		V(12063099-12065964)³ 179655¹ NM_073621.2¹ NP_506022.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G33280¹	putative chloride channel-like protein CLC-g	45.17(n) 36.39(a)		833300 NM_122852.3 NP_198313.2
rice (Oryza sativa)	Liliopsida	-- -- (see all 10)	chloride transporter, chloride channel family, put... chloride channel protein CLC-d, putative, expresse... (see all 10)	9(a) 35(a) (see all 10)	possible ortholog possible ortholog (see all 10)	1(29215854-29220762) 3(27854801-27864993)
E. coli (Escherichia coli)	Gamma proteobacteria	clcA⁶ clcB⁶	chloride channel, voltage-gated	17(a) 17(a)	1 ↔ many possible ortholog	Chromosome(175107-176528) Chromosome(1663339-1664595)

ENSEMBL Gene Tree for CLCN7 (if available)
TreeFam Gene Tree for CLCN7 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CLCN7 gene

CLCN4² CLCNKB² CLCN6² CLCN5² CLCN1² CLCN3² CLCNKA² CLCN2²

2 SIMAP similar genes for CLCN7 using alignment to 8 protein entries: CLCN7_HUMAN (see all proteins):

CLCN1 CLCN6

CLCN7 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77855142^1,2	F	--	1435566(+)	`GGGAGC/ATCAGC`	1	--	int¹		2		NA	6
rs75438786^1,2	C,F	--	1435589(+)	`GGGCCT/CCAGGG`	1	--	int¹		3		NA	6
rs79929432^1,2	C,	--	1435644(+)	`GCAGCA/GCACAC`	1	--	int¹		3		NA	6
rs12164971^1,2	A,	--	1435693(+)	`GGGGCC/ATCAGG`	1	--	int¹		2		NA	4
rs186597198^1,2		--	1494524(+)	`GCAGCA/GGGGCC`	3	--	ds500¹ us2k¹		0	--	--	--	--
rs146119999^1,2		--	1494535(+)	`GTTCCA/GGAACC`	3	--	ds500¹ us2k¹		0	--	--	--	--
rs151127056^1,2		--	1494624(+)	`CAGGG-/CCCCCCAA`	3	--	ds500¹ us2k¹		0	--	--	--	--
rs191752916^1,2		--	1494798(+)	`CCCAGG/TACACC`	3	--	us2k¹ ds500¹		0	--	--	--	--
rs147775990^1,2		--	1494824(+)	`CCCACA/GTCCGA`	3	--	us2k¹ ds500¹		0	--	--	--	--
rs73492037^1,2	C,	--	1494894(+)	`AACCCA/GTCTTG`	3	--	us2k¹ ds500¹		2		WA	120

HapMap Linkage Disequilibrium report for CLCN7 (1494935 - 1525581 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for CLCN7
10 CNVs: 29996 29998 29991 72419 29997 59561 5329 4779 59562 10494
1 Indel: 25616
Human Gene Mutation Database (HGMD): CLCN7

Locus Specific Mutation Databases (LSDB): CLCN7

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CLCN7 for disorders           About GeneDecksing

OMIM gene information: 602727
OMIM disorders: 611490  166600
UniProtKB/Swiss-Prot: CLCN7_HUMAN, P51798

Defects in CLCN7 are the cause of osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]; also known as

infantile malignant osteopetrosis type 2. Osteopetrosis is a rare genetic disease characterized by abnormally dense

bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive

form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or

adulthood

Defects in CLCN7 are the cause of osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]; also known as

autosomal dominant Albers-Schonberg disease or marble disease autosomal dominant. Osteopetrosis is a rare genetic

disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in

two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal

dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in

adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the

skull base

13 diseases for CLCN7: About MalaCards

osteopetrosis osteopetrosis autosomal recessive 4 genetic disease osteopetrosis autosomal dominant type 2

lysosomal storage disease bartter disease dent disease optic atrophy

nephrocalcinosis nephrolithiasis neurodegeneration osteoporosis

neuronitis

1 disease from the University of Copenhagen DISEASES database for CLCN7:

Osteopetrosis

5 Novoseek disease relationships for CLCN7 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
osteopetrosis, autosomal dominant, type ii	98.3	7	16368748 (1), 12929941 (1), 15016726 (1), 19288050 (1) (see all 5)
osteopetrosis	93.1	20	14564431 (3), 15706348 (2), 16368748 (1), 15177004 (1) (see all 12)
osteopetrosis, autosomal recessive	89.5	1	12522560 (1)
bone diseases	61.6	2	17164308 (1), 16234969 (1)
neurodegeneration	26.9	1	15706348 (1)

GeneTests: CLCN7

CLCN7-Related Osteopetrosis

Genetic Association Database (GAD): CLCN7
Human Genome Epidemiology (HuGE) Navigator: CLCN7 (8 documents)

Export disorders for CLCN7 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CLCN7 gene, integrated from 9 sources (see all 58):
(articles sorted by number of sources associating them with CLCN7)

Utopia: connect your pdf to the dynamic
world of online information

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. (PubMed id 14584882)^{1, 2, 4} Frattini A.... Villa A. (2003)
ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family. (PubMed id 8543009)^{1, 2, 3} Brandt S. and Jentsch T.J. (1995)
Polymorphisms of the CLCN7 gene are associated with BMD in women. (PubMed id 16234969)^{1, 4, 9} Pettersson U....Ralston S.H. (2005)
Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. (PubMed id 16368748)^{1, 4, 9} Kornak U....de Vernejoul M.C. (2006)
Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. (PubMed id 11741829)^{1, 2, 9} Cleiren E.... Van Hul W. (2001)
Molecular and clinical heterogeneity in CLCN7-depende nt osteopetrosis: report of 20 novel mutations. (PubMed id 19953639)^{1, 2, 9} Pangrazio A....Sobacchi C. (2010)
ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchange r and requires Ostm1 for transport activity. (PubMed id 21527911)^{1, 2} Leisle L....Stauber T. (2011)
The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes. (PubMed id 18449189)^{1, 2} Graves A.R....Mindell J.A. (2008)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1186	HGNC: 2025	AceView: CLCN7	Ensembl:ENSG00000103249	euGenes: HUgn1186
ECgene: CLCN7	H-InvDB: CLCN7

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CLCN7	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLCN7

Intellectual Property for CLCN7 gene
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Patent Information for CLCN7 gene:
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GeneCards and IP:
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CLCN7 Gene

chloride channel, voltage-sensitive 7

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CLCN7 Gene

chloride channel, voltage-sensitive 7

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