Aliases for CLCN5 Gene
Aliases for CLCN5 Gene
- Chloride Voltage-Gated Channel 5 2 3 5
- Chloride Channel, Voltage-Sensitive 5 2 3
- Chloride Transporter ClC-5 3 4
- CLCK2 3 4
- ClC-5 3 4
- Voltage-Gated Chloride Ion Channel CLCN5 3
- H(+)/Cl(-) Exchange Transporter 5 3
- Nephrolithiasis 1 (X-Linked) 2
- Nephrolithiasis 2, X-Linked 2
- Chloride Channel Protein 5 4
External Ids for CLCN5 Gene
- HGNC: 2023
- Entrez Gene: 1184
- Ensembl: ENSG00000171365
- OMIM: 300008
- UniProtKB: P51795
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
-
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 Hepatic ABC Transporters 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 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.
Additional gene information for CLCN5 Gene
- Monarch Initiative
- Search for CLCN5 at DataMed
- Search for CLCN5 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLCN5 Gene
Genomics for CLCN5 Gene
GeneHancer (GH) Regulatory Elements for CLCN5 Gene
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 | 650.7 | +0.1 | 91 | 3 | PKNOX1 ZNF133 ARID4B SIN3A DMAP1 YY1 TCF12 GLIS2 ZNF263 REST | CLCN5 ENSG00000270012 PAGE4 CCDC22 RNU6-421P | |
| GH0XJ050066 | Promoter/Enhancer | 1.2 | EPDnew ENCODE | 657.3 | +145.6 | 145554 | 3.7 | MXI1 USF1 FOXA2 TAF1 ZNF335 POLR2A ZNF26 CBFA2T2 TCF7L2 TFE3 | CLCN5 GC0XP050042 PYY3 | |
| GH0XJ049876 | Promoter/Enhancer | 1.5 | Ensembl ENCODE | 18.4 | -44.0 | -43965 | 3.5 | HDGF PKNOX1 ATF1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 | USP27X-AS1 USP27X CLCN5 PAGE4 | |
| GH0XJ050108 | Enhancer | 0.6 | ENCODE | 18.2 | +185.6 | 185591 | 1.5 | SOX5 SOX13 FOXA2 FOXA3 HLF CEBPB NFIL3 TCF7 KDM1A CREM | CLCN5 PYY3 GC0XP050042 | |
| GH0XJ050078 | Enhancer | 0.5 | ENCODE | 18.6 | +157.8 | 157750 | 4.4 | CTCF GATA3 SMC3 HNF4A RAD21 | CLCN5 GC0XP050042 PYY3 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CLCN5 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for CLCN5 Gene
Genomic Locations for CLCN5 Gene
- chrX:49,922,615-50,099,235
- (GRCh38/hg38)
- Size:
- 176,621 bases
- Orientation:
- Plus strand
- chrX:49,687,225-49,863,892
- (GRCh37/hg19)
Genomic View for CLCN5 Gene
Genes around CLCN5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp11.23 by Entrez Gene
- Xp11.23 by HGNC
- Xp11.23 by Ensembl
CLCN5 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CLCN5 Gene
Proteins for CLCN5 Gene
-
Protein details for CLCN5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P51795-CLCN5_HUMAN
- Recommended name:
- H(+)/Cl(-) exchange transporter 5
- Protein Accession:
- P51795
- A1L475
- B3KPN6
- Q5JQD5
- Q7RTN8
Protein attributes for CLCN5 Gene
- Size:
- 746 amino acids
- Molecular mass:
- 83147 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.
Protein Expression for CLCN5 Gene
Post-translational modifications for CLCN5 Gene
- Ubiquitinated by NEDD4L in the presence of albumin; which promotes endocytosis and proteasomal degradation.
- Ubiquitination at posLast=579579
- Modification sites at PhosphoSitePlus
Other Protein References for CLCN5 Gene
Antibody Products
- Novus Biologicals Antibodies for CLCN5
- Invitrogen Antibodies for CLCN5
- GeneTex CLCN5 Antibody for CLCN5
-
Boster Bio Antibodies for CLCN5
Protein Products
-
OriGene Purified Proteins for CLCN5
- Search Origene for MassSpec and Protein Over-expression Lysates for CLCN5
- Origene Custom Protein Services for CLCN5
- Search GeneTex for Proteins for CLCN5
Assay Products
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for CLCN5 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P51795UniProtKB/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.
Function for CLCN5 Gene
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 Henles loop,likely involved in the receptor-mediated endocytic pathway
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0005247 | voltage-gated chloride channel activity | IBA,IEA | -- |
| GO:0005254 | chloride channel activity | TAS | 8559248 |
| GO:0005515 | protein binding | IPI | 19940036 |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for CLCN5 Gene
- MGI mutant phenotypes for CLCN5:
- inferred from 8 alleles
- GenomeRNAi human phenotypes for CLCN5:
Animal Models for CLCN5 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CLCN5
-
CRISPR Products
-
OriGene CRISPR knockouts for CLCN5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CLCN5
- Applied Biological Materials CRISPR for CLCN5
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CLCN5
- GenScript: Design CRISPR guide RNA sequences for CLCN5
miRNA for CLCN5 Gene
- miRTarBase miRNAs that target CLCN5
-
- hsa-mir-21-5p (MIRT030774)
- hsa-mir-4535 (MIRT479186)
- hsa-mir-4776-5p (MIRT479187)
- hsa-mir-1273e (MIRT479188)
- hsa-mir-4763-3p (MIRT479189)
- hsa-mir-1207-5p (MIRT479190)
- hsa-mir-650 (MIRT479191)
- hsa-mir-3612 (MIRT479192)
- hsa-mir-711 (MIRT479193)
- hsa-mir-6722-3p (MIRT479194)
- hsa-mir-1909-3p (MIRT479195)
- hsa-mir-4722-5p (MIRT479196)
- hsa-mir-1827 (MIRT479197)
- hsa-mir-219b-3p (MIRT479198)
- hsa-mir-4649-3p (MIRT479199)
- hsa-mir-1247-3p (MIRT479200)
- hsa-mir-6783-5p (MIRT479201)
- hsa-mir-6893-5p (MIRT479202)
- hsa-mir-940 (MIRT479203)
- hsa-mir-6808-5p (MIRT479204)
- hsa-mir-302f (MIRT479205)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CLCN5
- Browse OriGene Inhibitory RNA Products For CLCN5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN5
Clone Products
-
OriGene ORF clones in human for CLCN5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for CLCN5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CLCN5
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CLCN5
- genomics-online: cdna clones - Search results for 110 available Chloride Channel 5 gene related products
- Overview of 110 available Chloride Channel 5 gene related products
- orf clones - Search results for 110 available Chloride Channel 5 gene related products
- Overview of 110 available Chloride Channel 5 gene related products
- Applied Biological Materials Clones for CLCN5
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CLCN5
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| lysosome | 5 |
| golgi apparatus | 5 |
| endosome | 5 |
| cytosol | 4 |
| extracellular | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (3)
- Golgi apparatus (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005765 | lysosomal membrane | HDA | 17897319 |
| GO:0005768 | endosome | IBA | -- |
| GO:0005794 | Golgi apparatus | IDA,IEA | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for CLCN5 Gene
Pathways by source for CLCN5 Gene
3 Reactome pathways for CLCN5 Gene
5 Qiagen pathways for CLCN5 Gene
Interacting Proteins for CLCN5 Gene
Selected Interacting proteins:
P51795-CLCN5_HUMAN
ENSP00000365256
for CLCN5 Gene via
IID
UniProtKB
STRING
GPS-Prot Interaction Network for CLCN5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006821 | chloride transport | IEA | -- |
| GO:0007588 | excretion | TAS | 8559248 |
| GO:0034220 | ion transmembrane transport | TAS | -- |
| GO:0055085 | transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for CLCN5 Gene
Transcripts for CLCN5 Gene
mRNA/cDNA for CLCN5 Gene
- (168) Selected AceView cDNA sequences:
- (12) Additional mRNA sequences :
- (7) REFSEQ mRNAs :
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000307367 3177 bps (uc064zge.1)
- ENST00000376088 10108 bps (uc004dor.1)
- ENST00000376091 3046 bps (uc004doq.2)
- ENST00000376108 2660 bps (uc004dos.2)
- ENST00000482218 449 bps (uc064zgc.1)
Unigene Clusters for CLCN5 Gene
- Chloride channel, voltage-sensitive 5:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for CLCN5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CLCN5
- Applied Biological Materials CRISPR for CLCN5
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CLCN5
- GenScript: Design CRISPR guide RNA sequences for CLCN5
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CLCN5
- Browse OriGene Inhibitory RNA Products For CLCN5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN5
Clone Products
-
OriGene ORF clones in human for CLCN5
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for CLCN5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CLCN5
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CLCN5
- genomics-online: cdna clones - Search results for 110 available Chloride Channel 5 gene related products
- Overview of 110 available Chloride Channel 5 gene related products
- orf clones - Search results for 110 available Chloride Channel 5 gene related products
- Overview of 110 available Chloride Channel 5 gene related products
- Applied Biological Materials Clones for CLCN5
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||
| SP3: |
Expression for CLCN5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epiblast (Early Embryonic Tissues)
- Primordial Germ Cell Precursors Epiblast
-
Gonad
- Primordial Germ Cell Precursors Epiblast
-
Kidney (Urinary System)
- Proximal Tubule Cells Proximal Tubule
-
Epithelial Cells
- Proximal Tubule Cells Proximal Tubule
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
-
Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for CLCN5 Gene
This gene is overexpressed in Kidney - Cortex (x4.8).
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
NURSA nuclear receptor signaling pathways regulating expression of CLCN5 Gene:
CLCN5SOURCE GeneReport for Unigene cluster for CLCN5 Gene:
Hs.166486mRNA 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(4.2)
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
Primer Products
-
OriGene qPCR primer pairs for CLCN5
-
OriGene qPCR primer pairs and template standards for CLCN5
Gene Expression Assay Products
Orthologs for CLCN5 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CLCN5 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CLCN5 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CLCN5 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Clcn5 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Clcn5 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CLCN5 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CLCN5 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CLCN5 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CLCN5 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | clcn5 33 |
|
||
| Str.16383 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC397880 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CLCN5 (1 of 2) 34 |
|
OneToMany | |
| clcn5 34 |
|
OneToMany | |||
| si:dkey-22f5.8 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG5284 35 |
|
|
|
| ClC-c 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | clh-5 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GEF1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for CLCN5 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
Paralogs for CLCN5 Gene
Variants for CLCN5 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1016988265 | uncertain-significance, Dent Disease | 50,098,827(+) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1035298488 | uncertain-significance, Dent Disease | 50,092,696(+) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1053041096 | uncertain-significance, Dent Disease | 50,094,093(+) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1057515931 | uncertain-significance, Dent Disease | 50,092,723(+) | G/C | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1057515932 | uncertain-significance, Dent Disease | 50,093,188(+) | A/C | 3_prime_UTR_variant, genic_downstream_transcript_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCN5 Gene
Disorders for CLCN5 Gene
(17) MalaCards diseases for CLCN5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dent disease 1 |
|
|
| hypophosphatemic rickets, x-linked recessive |
|
|
| proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis |
|
|
| nephrolithiasis, x-linked recessive, with renal failure |
|
|
| nephrolithiasis |
|
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 mutations 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 mutations 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 mutations 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 mutations affecting the gene represented in this entry.
Additional Disease Information for CLCN5
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CLCN5 Gene
Publications for CLCN5 Gene
- X-linked recessive nephrolithiasis: presentation and diagnosis in children. (PMID: 9602200) Schurman SJ … Scheinman SJ (The Journal of pediatrics 1998) 2 3 4 22 58
- 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 44 58
- A common molecular basis for three inherited kidney stone diseases. (PMID: 8559248) Lloyd SE … Thakker RV (Nature 1996) 2 3 4 22 58
- 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 58
- Nucleotide recognition by the cytoplasmic domain of the human chloride transporter ClC-5. (PMID: 17195847) Meyer S … Dutzler R (Nature structural & molecular biology 2007) 3 4 22 58
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