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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]
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 Activation of cAMP-Dependent PKA and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include ion channel activity and antiporter activity. An important paralog of this gene is CLCN4.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
2 | Ion channel transport | ||
3 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
4 | Neuropathic Pain-Signaling in Dorsal Horn Neurons |
Cholera Infection
.40
|
|
5 | Hepatic ABC Transporters |
Hepatic ABC Transporters
.41
|
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Chloride ion | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CLCN5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CLCN5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CLCN5 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Clcn5 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Clcn5 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CLCN5 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CLCN5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CLCN5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CLCN5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | clcn5 30 |
|
||
Str.16383 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC397880 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CLCN5 (1 of 2) 31 |
|
OneToMany | |
clcn5 31 |
|
OneToMany | |||
si:dkey-22f5.8 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5284 32 |
|
|
|
ClC-c 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | clh-5 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GEF1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
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 | |
844730 | Uncertain Significance: Dent disease type 1; not provided | 50,075,827(+) |
C/A NM_001127898.4(CLCN5):c.448C>A (p.His150Asn) |
MISSENSE | |
851548 | Likely Pathogenic: not provided | 50,090,511(+) |
ATTGGTAAGGAT/A NM_001127898.4(CLCN5):c.2143_2143+10del |
SPLICE_DONOR | |
858905 | Uncertain Significance: not provided | 50,081,641(+) |
A/ATAAAAACTATCTT
NM_001127898.4(CLCN5):c.728_745dup (p.Gly249_Phe250insValLysThrIleLeuSer) |
INFRAME_INSERTION | |
912880 | Uncertain Significance: Dent disease type 1 | 50,090,819(+) |
C/T NM_001127898.4(CLCN5):c.2293C>T (p.Pro765Ser) |
MISSENSE |
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 |
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 |
|
|