CLCN5 Gene (Protein Coding)

Chloride Voltage-Gated Channel 5

GC0XP049922
GIFtS:
44
This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcrip... See more...

Aliases for CLCN5 Gene

Aliases for CLCN5 Gene

  • Chloride Voltage-Gated Channel 5 2 3 5
  • ClC-5 2 3 4
  • Chloride Channel, Voltage-Sensitive 5 2 3
  • H(+)/Cl(-) Exchange Transporter 5 3 4
  • Chloride Transporter ClC-5 3 4
  • HCIC-K2 2 3
  • CLCK2 3 4
  • DENTS 2 3
  • CLC5 2 3
  • XLRH 2 3
  • XRN 2 3
  • Voltage-Gated Chloride Ion Channel CLCN5 3
  • Nephrolithiasis 1 (X-Linked) 2
  • Nephrolithiasis 2, X-Linked 2
  • Chloride Channel Protein 5 4
  • Chloride Channel 5 2
  • Dent Disease 2
  • HClC-K2 2
  • NPHL1 3
  • NPHL2 3
  • CLCN5 5

External Ids for CLCN5 Gene

Previous HGNC Symbols for CLCN5 Gene

  • NPHL2
  • NPHL1

Previous GeneCards Identifiers for CLCN5 Gene

  • GC0XP048431
  • GC0XP047889
  • GC0XP048604
  • GC0XP048751
  • GC0XP049390
  • GC0XP049573
  • GC0XP049687
  • GC0XP047156

Summaries for CLCN5 Gene

Entrez Gene Summary for CLCN5 Gene

  • This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

GeneCards Summary for CLCN5 Gene

CLCN5 (Chloride Voltage-Gated Channel 5) is a Protein Coding gene. Diseases associated with CLCN5 include Dent Disease 1 and Hypophosphatemic Rickets, X-Linked Recessive. Among its related pathways are Ion channel transport and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include ion channel activity and antiporter activity. An important paralog of this gene is CLCN4.

UniProtKB/Swiss-Prot Summary for CLCN5 Gene

  • Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function.

Gene Wiki entry for CLCN5 Gene

Additional gene information for CLCN5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLCN5 Gene

Genomics for CLCN5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CLCN5 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ049921 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.1 1110 5 NCOR1 NFIC ZIC2 YY1 MXD4 CEBPB KLF11 CHD2 MAX SIN3A CLCN5 NONHSAG054474.2 PAGE4 RF00026-1124 RNU6-421P AKAP4
GH0XJ050066 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 257.3 +145.6 145573 3.7 ATF3 POLR2A RAD51 FOXA2 JUND HNF4A TAF1 BHLHE40 TOE1 REST CLCN5 piR-61532-347 PYY3 AKAP4
GH0XJ049876 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 18.4 -43.5 -43546 4.3 CEBPA POLR2A YY1 REST FOXA1 ZNF341 ZFP64 MNT CTCF MAX HSALNG0137886 USP27X USP27X-DT CLCN5 ENSG00000270012 PAGE4 HSALNG0137884
GH0XJ050107 Enhancer 0.7 Ensembl ENCODE 18.2 +185.5 185505 1.8 CEBPB FOXA2 CREM SOX5 SOX13 NFIL3 HLF TCF7 FOXA3 CLCN5 piR-61532-347 PYY3 AKAP4
GH0XJ050075 Enhancer 0.5 Ensembl ENCODE 17.7 +153.6 153604 1.6 SPI1 RUNX3 CLCN5 piR-61532-347 PYY3 AKAP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLCN5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLCN5

Top Transcription factor binding sites by QIAGEN in the CLCN5 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • E2F-2

Genomic Locations for CLCN5 Gene

Latest Assembly
chrX:49,922,596-50,099,235
(GRCh38/hg38)
Size:
176,640 bases
Orientation:
Plus strand

Previous Assembly
chrX:49,687,206-49,863,887
(GRCh37/hg19 by Entrez Gene)
Size:
176,682 bases
Orientation:
Plus strand

chrX:49,687,225-49,863,892
(GRCh37/hg19 by Ensembl)
Size:
176,668 bases
Orientation:
Plus strand

Genomic View for CLCN5 Gene

Genes around CLCN5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLCN5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLCN5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CLCN5 Gene

Proteins for CLCN5 Gene

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  • Protein details for CLCN5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51795-CLCN5_HUMAN
    Recommended name:
    H(+)/Cl(-) exchange transporter 5
    Protein Accession:
    P51795
    Secondary Accessions:
    • A1L475
    • B3KPN6
    • Q5JQD5
    • Q7RTN8

    Protein attributes for CLCN5 Gene

    Size:
    816 amino acids
    Molecular mass:
    90785 Da
    Quaternary structure:
    • Interacts with NEDD4 and NEDD4L.
    Miscellaneous:
    • The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels.

    Three dimensional structures from OCA and Proteopedia for CLCN5 Gene

    Alternative splice isoforms for CLCN5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLCN5 Gene

Protein Expression for CLCN5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CLCN5 Gene

  • Ubiquitinated by NEDD4L in the presence of albumin; which promotes endocytosis and proteasomal degradation.
  • Ubiquitination at Lys649
  • Modification sites at PhosphoSitePlus

Other Protein References for CLCN5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CLCN5 Gene

Domains & Families for CLCN5 Gene

Gene Families for CLCN5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CLCN5 Gene

InterPro:
Blocks:
  • CBS domain
  • Chloride channel signature
  • CLC-5 chloride channel signature

Suggested Antigen Peptide Sequences for CLCN5 Gene

GenScript: Design optimal peptide antigens:
  • Chloride transporter ClC-5 (CLCN5_HUMAN)
  • Chloride channel protein 5 long isoform (Q7RTN8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51795

UniProtKB/Swiss-Prot:

CLCN5_HUMAN :
  • Belongs to the chloride channel (TC 2.A.49) family. ClC-5/CLCN5 subfamily.
Family:
  • Belongs to the chloride channel (TC 2.A.49) family. ClC-5/CLCN5 subfamily.
genes like me logo Genes that share domains with CLCN5: view

Function for CLCN5 Gene

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  6. Cell Lines for research

Molecular function for CLCN5 Gene

UniProtKB/Swiss-Prot Function:
Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function.
GENATLAS Biochemistry:
chloride voltage-gated channel 5,expressed in the epithelial cell lining the proximal tubules and the thick ascending limbs of Henle's loop,likely involved in the receptor-mediated endocytic pathway

Phenotypes From GWAS Catalog for CLCN5 Gene

Gene Ontology (GO) - Molecular Function for CLCN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005247 voltage-gated chloride channel activity IEA,IBA 21873635
GO:0005254 chloride channel activity TAS 8559248
GO:0005515 protein binding IPI 19940036
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CLCN5: view
genes like me logo Genes that share phenotypes with CLCN5: view

Human Phenotype Ontology for CLCN5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CLCN5 Gene

MGI Knock Outs for CLCN5:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN5

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CLCN5 Gene

Localization for CLCN5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLCN5 Gene

Golgi apparatus membrane. Multi-pass membrane protein. Endosome membrane. Multi-pass membrane protein. Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLCN5 gene
Compartment Confidence
plasma membrane 5
endosome 5
cytosol 4
lysosome 4
golgi apparatus 4
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Plasma membrane (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLCN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005768 endosome IEA --
GO:0005769 early endosome IBA 21873635
GO:0005794 Golgi apparatus IBA,IDA --
genes like me logo Genes that share ontologies with CLCN5: view

Pathways & Interactions for CLCN5 Gene

PathCards logo

SuperPathways for CLCN5 Gene

genes like me logo Genes that share pathways with CLCN5: view

Pathways by source for CLCN5 Gene

1 KEGG pathway for CLCN5 Gene
5 Qiagen pathways for CLCN5 Gene
  • Activation of cAMP-Dependent PKA
  • cAMP Pathway
  • Cholera Infection
  • Hepatic ABC Transporters
  • PKA Signaling

Gene Ontology (GO) - Biological Process for CLCN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0006897 endocytosis IEA --
GO:0007588 excretion TAS 8559248
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with CLCN5: view

No data available for SIGNOR curated interactions for CLCN5 Gene

Drugs & Compounds for CLCN5 Gene

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(5) Drugs for CLCN5 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloride ion Experimental Pharma 0

(2) Additional Compounds for CLCN5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CLCN5: view

Transcripts for CLCN5 Gene

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mRNA/cDNA for CLCN5 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN5

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for CLCN5 Gene

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

Relevant External Links for CLCN5 Gene

GeneLoc Exon Structure for
CLCN5

Expression for CLCN5 Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CLCN5 Gene

mRNA expression in normal human tissues for CLCN5 Gene
mRNA expression by BioGPS for CLCN5 GenemRNA expression by GTEx for CLCN5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLCN5 Gene

This gene is overexpressed in Kidney - Cortex (x4.8).

Protein differential expression in normal tissues from HIPED for CLCN5 Gene

This gene is overexpressed in Fetal Brain (25.5) and Testis (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CLCN5 Gene



Protein tissue co-expression partners for CLCN5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLCN5

SOURCE GeneReport for Unigene cluster for CLCN5 Gene:

Hs.166486

mRNA Expression by UniProt/SwissProt for CLCN5 Gene:

P51795-CLCN5_HUMAN
Tissue specificity: Kidney. Moderately expressed in aortic vascular smooth muscle and endothelial cells, and at a slightly higher level in the coronary vascular smooth muscle.

Evidence on tissue expression from TISSUES for CLCN5 Gene

  • Kidney(4.7)
  • Muscle(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CLCN5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • skull
  • thyroid
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • red blood cell
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CLCN5: view

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Orthologs for CLCN5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CLCN5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CLCN5 29 30
  • 97.3 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CLCN5 29 30
  • 93.38 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CLCN5 29 30
  • 93.38 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Clcn5 29
  • 91.6 (n)
Mouse
(Mus musculus)
 Mammalia Clcn5 29 16 30
  • 91.34 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CLCN5 30
  • 90 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CLCN5 30
  • 76 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CLCN5 29 30
  • 79.03 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CLCN5 30
  • 83 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia clcn5 29
  • 73.03 (n)
Str.16383 29
African clawed frog
(Xenopus laevis)
 Amphibia LOC397880 29
Zebrafish
(Danio rerio)
 Actinopterygii CLCN5 (1 of 2) 30
  • 79 (a)
 OneToMany
clcn5 30
  • 76 (a)
 OneToMany
si:dkey-22f5.8 29
  • 72.81 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG5284 31
  • 59 (a)
ClC-c 30
  • 54 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea clh-5 30
  • 50 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GEF1 30
  • 31 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 58 (a)
 OneToMany
Species where no ortholog for CLCN5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CLCN5 Gene

ENSEMBL:
Gene Tree for CLCN5 (if available)
TreeFam:
Gene Tree for CLCN5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLCN5: view image
Alliance of Genome Resources:
Additional Orthologs for CLCN5

Paralogs for CLCN5 Gene

Paralogs for CLCN5 Gene

(2) SIMAP similar genes for CLCN5 Gene using alignment to 2 proteins:

  • CLCN5_HUMAN
  • V9GYG7_HUMAN
genes like me logo Genes that share paralogs with CLCN5: view

Variants for CLCN5 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLCN5 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1000294 Uncertain Significance: not provided 50,092,126(+) T/G
NM_001127898.4(CLCN5):c.2361-3T>G 		INTRON
1000916 Uncertain Significance: not provided 50,086,610(+) G/A
NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met) 		MISSENSE
1026717 Uncertain Significance: not provided 50,090,458(+) G/A
NM_001127898.4(CLCN5):c.2087G>A (p.Arg696Gln) 		MISSENSE
1029478 Likely Pathogenic: Hypophosphatemic rickets, X-linked recessive 50,085,987(+) C/A
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) 		NONSENSE
804001 Benign: Dent disease type 1 50,003,229(+) G/.
NM_001127898.4(CLCN5):c.17-39087= 		NON_CODING_TRANSCRIPT_VARIANT,NO_SEQUENCE_ALTERATION,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CLCN5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CLCN5 Gene

Variant ID Type Subtype PubMed ID
dgv4238n106 CNV duplication 24896259
esv2673611 CNV deletion 23128226
esv33289 CNV loss 17666407
esv3337634 CNV duplication 20981092
esv3573959 CNV loss 25503493
esv3573960 CNV loss 25503493
esv3576875 CNV gain 25503493
nsv1077585 CNV duplication 25765185
nsv1077586 CNV duplication 25765185
nsv1132764 CNV duplication 24896259
nsv1147061 CNV duplication 26484159
nsv1151696 CNV duplication 26484159
nsv508770 CNV insertion 20534489

Variation tolerance for CLCN5 Gene

Residual Variation Intolerance Score: 22.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLCN5 Gene

Human Gene Mutation Database (HGMD)
CLCN5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLCN5
Leiden Open Variation Database (LOVD)
CLCN5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCN5 Gene

Disorders for CLCN5 Gene

MalaCards: The human disease database

(31) MalaCards diseases for CLCN5 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
dent disease 1
  • nephrolithiasis, hypercalciuric, x-linked
hypophosphatemic rickets, x-linked recessive
  • hypophosphatemic rickets
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
  • proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
nephrolithiasis, x-linked recessive, with renal failure
  • xrn
nephrotic syndrome
  • finnish congenital nephrotic syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CLCN5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLCN5_HUMAN
  • Hypophosphatemic rickets, X-linked recessive (XLRHR) [MIM:300554]: A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLRH patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only. {ECO:0000269 PubMed:21305656, ECO:0000269 PubMed:8559248}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Nephrolithiasis 2 (NPHL2) [MIM:300009]: An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Nephrolithiasis type 2 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia. {ECO:0000269 PubMed:15086899, ECO:0000269 PubMed:16247550, ECO:0000269 PubMed:16416111, ECO:0000269 PubMed:16822791, ECO:0000269 PubMed:17262170, ECO:0000269 PubMed:18025833, ECO:0000269 PubMed:19019917, ECO:0000269 PubMed:19657328, ECO:0000269 PubMed:21305656, ECO:0000269 PubMed:8559248, ECO:0000269 PubMed:9187673, ECO:0000269 PubMed:9259268, ECO:0000269 PubMed:9602200, ECO:0000269 PubMed:9853249}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Nephrolithiasis 1 (NPHL1) [MIM:310468]: An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Nephrolithiasis type 1 presents with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia. {ECO:0000269 PubMed:8559248}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]: An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. LMWPHN is a slowly progressive disorder. Patients tend to have hypercalciuric nephrocalcinosis without rickets or renal failure. {ECO:0000269 PubMed:11136179, ECO:0000269 PubMed:19019917, ECO:0000269 PubMed:9062355}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CLCN5

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Publications for CLCN5 Gene

  1. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). (PMID: 9062355) Lloyd SE … Thakker RV (The Journal of clinical investigation 1997) 3 4 22 40 72
  2. A common molecular basis for three inherited kidney stone diseases. (PMID: 8559248) Lloyd SE … Thakker RV (Nature 1996) 2 3 4 22 72
  3. X-linked recessive nephrolithiasis: presentation and diagnosis in children. (PMID: 9602200) Schurman SJ … Scheinman SJ (The Journal of pediatrics 1998) 2 3 4 22
  4. Heterogeneity in the processing of CLCN5 mutants related to Dent disease. (PMID: 21305656) Grand T … Lourdel S (Human mutation 2011) 3 4 72
  5. Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing. (PMID: 19657328) Grand T … Lourdel S (Kidney international 2009) 3 4 22

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