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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1188
Gene name Gene Name - the full gene name approved by the HGNC.	Chloride voltage-gated channel Kb
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CLCNKB
Synonyms (NCBI Gene) Gene synonyms aliases	CLCKB, ClC-K2, ClC-Kb
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.13
Summary Summary of gene provided in NCBI Entrez Gene.	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(10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005247	Function	Voltage-gated chloride channel activity	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0006821	Process	Chloride transport	IBA	21873635
GO:0007588	Process	Excretion	TAS	9326936
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0034707	Component	Chloride channel complex	IEA
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
602023	2027	ENSG00000184908

Protein

UniProt ID

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

Show/Hide Causal Diseases (13)

Disease term	Disease name	dbSNP ID	References
Causal
Bartter syndrome	BARTTER SYNDROME, TYPE 4B, Classic Bartter syndrome, Bartter Disease, Bartter syndrome, type 3, BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS	rs74315284, rs74315285, rs1389952796, rs74315286, rs74315287, rs74315288, rs74315289, rs121908144, rs121908145, rs121909137, rs121909138, rs121909131, rs121909132, rs121909133, rs121909134 View all (58 more)	10561751, 24058621, 17622951, 9326936, 23550235, 18310267, 16391491
Bartter syndrome with hypocalciuria	Bartter Syndrome, Type 3, with Hypocalciuria	rs121909136, rs554794449
Bartter syndrome with sensorineural deafness	Infantile Bartter syndrome with sensorineural deafness, BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS	rs1191726071
Chondrocalcinosis	Calcium pyrophosphate deposition disease	rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)
Fanconi syndrome	Adult Fanconi syndrome	rs398124646
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hyperaldosteronism	Hyperaldosteronism	rs28934586, rs104894068, rs387906778, rs386352319, rs587777437, rs587777438, rs587777439, rs786205050, rs771507094, rs1085307938, rs1553853557, rs1553856214, rs1293789661, rs1553857113, rs758379595
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Mitochondrial encephalopathy	Mitochondrial encephalopathy	rs199474671, rs199474672, rs776019250, rs35135520
Parathyroid adenoma	Parathyroid Adenoma	rs587776557
Renal insufficiency	Renal Insufficiency	rs1596536873
Ventricular fibrillation	Ventricular Fibrillation	rs137854604, rs587782933, rs190140598

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining
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)