• Gene id: 1188

Gene Summary

• Gene Symbol: CLCNKB   Gene   UCSC   Ensembl
• Aliases: CLCKB, ClC-K2, ClC-Kb
• Gene name: chloride voltage-gated channel Kb
• Alternate names: chloride channel protein ClC-Kb, chloride channel, kidney, B, chloride channel, voltage-sensitive Kb,
• Gene location: 1p36.13 (16043781: 16057325)     Exons: 9     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 602023

Protein Summary

• Protein general information: P51801  
  • Name: Chloride channel protein ClC Kb (Chloride channel Kb) (ClC K2)
  • Length: 687  
  • Mass: 75446
  • Tissue specificity: Expressed predominantly in the kidney. {ECO
• Sequence:

  MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLAVESVV
  RAHQWLYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVG
  LSCTLACGSTLFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIE
  VMSSHFSVWDYWRGFFAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYL
  FCQRIFFGFIRNNRFSSKLLATSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSS
  PPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPE
  GIVAGGITNPIMPGGYALAGAAAFSGAVTHTISTALLAFEVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVI
  VKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAKDMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLV
  QALKAEPPSWAPGHQQCLQDILAAGCPTEPVTLKLSPETSLHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKK
  AISNLTNPPAPK

• Structural information:
  • Protein Domains: (551..60-)
    (/note="CBS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703-)
    (626..68-)
    (/note="CBS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703"-)
  • Interpro: IPR000644  IPR014743  IPR001807  IPR002250  
  • Prosite: PS51371
  • STRING: ENSP00000364831
• Other Databases: GeneCards:  CLCNKB  Malacards:  CLCNKB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006821	chloride transport	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005247	voltage-gated chloride channel activity	IBA	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0005247	voltage-gated chloride channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0034707	chloride channel complex	IEA	cellular component
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005254	chloride channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005247	voltage-gated chloride channel activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007588	excretion	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04966	Collecting duct acid secretion

Diseases

Associated diseases	References
Bartter syndrome	KEGG:H00239
Bartter syndrome	KEGG:H00239
Gitelman syndrome	PMID:11102542
Hypertension	PMID:15148291
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881