Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1188
Gene name	Chloride voltage-gated channel Kb
Gene symbol	CLCNKB
Synonyms (NCBI Gene)	CLCKBClC-K2ClC-Kb
Chromosome	1
Chromosome location	1p36.13
Summary	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial tra

Show/Hide all (27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909131	C>G,T	Pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs121909132	G>A	Pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs121909133	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121909134	C>A	Pathogenic	Missense variant, coding sequence variant
rs121909135	T>C	Pathogenic	Missense variant, coding sequence variant
rs121909136	G>A	Pathogenic	Stop gained, coding sequence variant
rs201781905	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs370221310	C>T	Pathogenic	Coding sequence variant, stop gained
rs377215024	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs554794449	G>A,C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs751608665	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs755714542	G>A	Pathogenic	Coding sequence variant, missense variant
rs767271426	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs779593707	->AATA	Likely-pathogenic	Coding sequence variant, stop gained, inframe indel
rs779908241	A>C,G	Pathogenic	Splice acceptor variant
rs863224858	C>-	Likely-pathogenic	Coding sequence variant, stop gained
rs953686324	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1057516207	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1057521154	G>T	Likely-pathogenic	Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1159737562	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1180658535	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1191726071	G>A,C	Pathogenic	Splice donor variant
rs1286624133	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553127141	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1570334344	G>T	Pathogenic	Stop gained, coding sequence variant
rs1570340095	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1570341086	T>G	Pathogenic	Stop gained, coding sequence variant

Show/Hide all (9)

miRTarBase ID	miRNA	Experiments
MIRT894895	hsa-miR-1292	CLIP-seq
MIRT894896	hsa-miR-216a	CLIP-seq
MIRT894897	hsa-miR-3145-5p	CLIP-seq
MIRT894898	hsa-miR-3192	CLIP-seq
MIRT894899	hsa-miR-4314	CLIP-seq
MIRT894900	hsa-miR-4471	CLIP-seq
MIRT894901	hsa-miR-4646-5p	CLIP-seq
MIRT894902	hsa-miR-508-5p	CLIP-seq
MIRT894903	hsa-miR-664	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005247	Function	Voltage-gated chloride channel activity	IBA
GO:0005247	Function	Voltage-gated chloride channel activity	IEA
GO:0005247	Function	Voltage-gated chloride channel activity	TAS	8041726
GO:0005254	Function	Chloride channel activity	IDA	12111250
GO:0005254	Function	Chloride channel activity	IEA
GO:0005515	Function	Protein binding	IPI	12111250
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8041726
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IBA
GO:0006821	Process	Chloride transport	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	18776122
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0030321	Process	Transepithelial chloride transport	TAS	8041726
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070293	Process	Renal absorption	IEA
GO:0070293	Process	Renal absorption	TAS	8041726
GO:0070294	Process	Renal sodium ion absorption	IMP	9326936
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
602023	2027	ENSG00000184908

P51801

Protein name

Chloride channel protein ClC-Kb (Chloride channel Kb) (ClC-K2)

Protein function

Anion-selective channel permeable to small monovalent anions with ion selectivity for chloride > bromide > nitrate > iodide (PubMed:11734858, PubMed:12111250). Forms a homodimeric channel where each subunit has its own ion conduction pathway. Ma

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00654	Voltage_CLC	102 → 514	Voltage gated chloride channel	Family
PF00571	CBS	547 → 605	CBS domain	Domain

Sequence

MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLM
ALVSCAMDLAVESVVRAHQWLYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGG
SGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGSTLFLGKVGPFVHLSVMMAAYL
GRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIEVMSSHFSVWDYWRGF
FAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYL
FCQRIFFGFIRNNRFSSKLLATSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDS
LFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIP
MPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTH
TISTALLAFEVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNI
GSHRVRVEHFMNHSITTLAKDMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLV
QALKAEPPSWAPGHQQCLQDILAAGCPTEPVTLKLSPETSLHEAHNLFELLNLHSLFVTS
RGRAVGCVSWVEMKKAISNLTNPPAPK

Sequence length

687

Interactions

View interactions

	KEGG		Reactome
	Collecting duct acid secretion		Stimuli-sensing channels

317

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant osteopetrosis 1	Likely pathogenic; Pathogenic	rs377215024	RCV003388600
Bartter disease type 3	Likely pathogenic; Pathogenic	rs777305169, rs201204502, rs202064075, rs368504008, rs1557468189, rs201540273, rs863224858, rs121909131, rs121909132, rs121909133, rs121909134, rs121909135, rs779908241, rs121909136, rs767271426 View all (21 more)	RCV001535929 RCV005040337 RCV002478007 RCV005050483 RCV002471697 RCV005045069 RCV000198263 RCV000008029 RCV000008030 RCV000008031 RCV000008032 RCV000008033 RCV000008035 RCV001536025 RCV002500748 RCV003324096 RCV005047675 RCV003988660 RCV004527527 RCV004577275 RCV000408763 RCV005869564 RCV000986258 RCV001197383 RCV000761590 RCV000791188 RCV000986252 RCV000986253 RCV000986254 RCV000986255 RCV000986256 RCV000986257 RCV001195134 RCV001196696 RCV001281172 RCV001849489
Bartter disease type 4B	Likely pathogenic; Pathogenic	rs777305169, rs201204502, rs202064075, rs368504008, rs201540273, rs863224858, rs121909132, rs121909133, rs779908241, rs121909136, rs767271426, rs139909733, rs370221310, rs953686324, rs1159737562 View all (7 more)	RCV001535929 RCV005040337 RCV002478007 RCV005050483 RCV005045069 RCV002503789 RCV001535912 RCV005042013 RCV002504767 RCV001536025 RCV002500748 RCV005047675 RCV005049583 RCV002499284 RCV005047053 RCV002479152 RCV002505497 RCV001328286 RCV005047169 RCV002497678 RCV005050315 RCV002480867
Bartter syndrome	Pathogenic; Likely pathogenic	rs201540273, rs121909132, rs755714542, rs1180658535	RCV003317629 RCV006263622 RCV006269267 RCV004689946
Bartter syndrome, type 3, with hypocalciuria	Pathogenic	rs121909136, rs554794449	RCV000008037 RCV000008038
BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS	Pathogenic	rs1191726071	RCV000008039
Epilepsy, familial focal, with variable foci 1	Pathogenic	rs370985865	RCV001251481
Hematuria	Likely pathogenic; Pathogenic	rs779593707	RCV000626588
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs201204502	RCV005922324
Proteinuria	Likely pathogenic; Pathogenic	rs779593707	RCV000626588

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs61769891	RCV005923044
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs35351345	RCV005901114
Familial cancer of breast	Benign	rs35335042	RCV005918862
Gastric cancer	Benign	rs61769891	RCV005923043
Lung cancer	Benign; Conflicting classifications of pathogenicity	rs369520464, rs61769891, rs35351345	RCV005921529 RCV005923045 RCV005901117
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	Benign; Likely benign	rs143663847	RCV001258278
Ovarian cancer	Conflicting classifications of pathogenicity	rs35351345	RCV005901113
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs35351345	RCV005901115
Thymoma	Conflicting classifications of pathogenicity	rs35351345	RCV005901116
Uterine carcinosarcoma	Benign	rs13306246	RCV005916479
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	rs13306246, rs35335042, rs35351345	RCV005916480 RCV005918863 RCV005901118

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alkalosis	Associate	29442545, 35913199, 38069401
Bartter Syndrome	Associate	12472765, 12911530, 16902263, 21631963, 21937999, 28334417, 28555925, 29442545, 30760291, 31409296, 32624484, 32857947, 33827883, 35913199, 36305432, 38069401 View all (1 more)
Bartter syndrome type 3	Associate	23345488, 24058621, 24965226, 26537508, 28288174, 28381550, 31409296, 33807568, 33827883, 35913199, 37612755
Bloom Syndrome	Associate	23345488, 32506365
Chondrocalcinosis	Associate	33807568
Daneman Davy Mancer syndrome	Associate	38069401
Esophageal Neoplasms	Associate	35568702
Essential Hypertension	Associate	19226700, 22578033, 25919862
Failure to Thrive	Associate	16902263, 31409296
Fibrous Dysplasia Polyostotic	Associate	40091330
Gitelman Syndrome	Associate	12472765, 21631963, 23345488, 26770037, 30999883, 32506365, 33807568, 34607911
Glomerulosclerosis Focal Segmental	Associate	31409296
Glycosuria Renal	Associate	34607911
Hearing Loss	Associate	38069401
Hearing Loss Sensorineural	Associate	38069401
Heart Septal Defects Atrial	Associate	31409296
Hyperaldosteronism	Associate	29442545, 32624484
Hypercalciuria	Associate	33807568
Hypertension	Associate	17652939, 19226700, 22578033, 28334417, 32624484
Hyperuricemia	Associate	33807568
Hypokalemia	Associate	16902263, 29442545, 33807568, 35913199
Job Syndrome	Associate	32624484
Nephrocalcinosis	Associate	28288174
Nonsyndromic sensorineural hearing loss	Associate	21937999, 38069401
Polyuria	Associate	33827883
Renal Insufficiency Chronic	Associate	31409296
SeSAME syndrome	Associate	23345488
Syncope	Associate	32624484
Vomiting	Associate	31409296
Weight Gain	Associate	16902263

CLCNKB (chloride voltage-gated channel Kb)