Seroatlas · Human Serome Atlas

CLCNKB

Chloride channel protein ClC-Kb

Also known as: CLCKB_HUMAN, hClC-Kb

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P51801
Gene: CLCNKB
Ensembl: ENSG00000184908
Chromosome: 1
Canonical length: 687 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Quaternary structure: Homodimer

OverviewNCBI 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 transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

687 residues, UniProt reviewed canonical sequence.

>P51801|CLCNKB
     1  MEEFVGLREG SSGNPVTLQE LWGPCPRIRR GIRGGLEWLK QKLFRLGEDW YFLMTLGVLM
    61  ALVSCAMDLA VESVVRAHQW LYREIGDSHL LRYLSWTVYP VALVSFSSGF SQSITPSSGG
   121  SGIPEVKTML AGVVLEDYLD IKNFGAKVVG LSCTLACGST LFLGKVGPFV HLSVMMAAYL
   181  GRVRTTTIGE PENKSKQNEM LVAAAAVGVA TVFAAPFSGV LFSIEVMSSH FSVWDYWRGF
   241  FAATCGAFMF RLLAVFNSEQ ETITSLYKTS FRVDVPFDLP EIFFFVALGG LCGILGSAYL
   301  FCQRIFFGFI RNNRFSSKLL ATSKPVYSAL ATLVLASITY PPSAGRFLAS RLSMKQHLDS
   361  LFDNHSWALM TQNSSPPWPE ELDPQHLWWE WYHPRFTIFG TLAFFLVMKF WMLILATTIP
   421  MPAGYFMPIF VYGAAIGRLF GETLSFIFPE GIVAGGITNP IMPGGYALAG AAAFSGAVTH
   481  TISTALLAFE VTGQIVHALP VLMAVLAANA IAQSCQPSFY DGTVIVKKLP YLPRILGRNI
   541  GSHRVRVEHF MNHSITTLAK DMPLEEVVKV VTSTDVAKYP LVESTESQIL VGIVRRAQLV
   601  QALKAEPPSW APGHQQCLQD ILAAGCPTEP VTLKLSPETS LHEAHNLFEL LNLHSLFVTS
   661  RGRAVGCVSW VEMKKAISNL TNPPAPK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CLCNKB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 8
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 125 nTPM

Expression across tissuesHPA

Tissue

kidney: 125 nTPM
salivary gland: 40 nTPM
thyroid gland: 8.1 nTPM
parathyroid gland: 2.3 nTPM
cerebellum: 2.2 nTPM
heart muscle: 1.5 nTPM

Single-cell type

epididymal clear cells: 339 nCPM
respiratory ionocytes: 244 nCPM
distal convoluted tubule cells: 204 nCPM
renal collecting duct intercalated cells: 167 nCPM
late spermatids: 147 nCPM
renal connecting tubule cells: 107 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebellum: 7.4 nTPM
choroid plexus: 1.6 nTPM
pons: 1.2 nTPM
hypothalamus: 0.6 nTPM
midbrain: 0.6 nTPM
cerebral cortex: 0.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CLCNKB.

Disease | AllUniProt

Conditions CLCNKB is implicated in, by any mechanism.

Bartter syndrome 3 (BARTS3) MIM:607364
Bartter syndrome 4B, neonatal, with sensorineural deafness (BARTS4B) MIM:613090

Disease | GeneticClinVar

88 pathogenic / likely-pathogenic of 704 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Bartter disease type 3
Bartter disease type 4B
Bartter syndrome
BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS
Bartter syndrome, type 3, with hypocalciuria

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.24
gnomAD pLI: 0
gnomAD missense Z: -0.56
DepMap mean gene effect: 0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CLCNKB in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

BSND

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CLCNKB as an antibody target. Whether an autoantibody or antibody against CLCNKB could matter depends on whether native CLCNKB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CLCNKB is annotated at the cell surface, where native CLCNKB is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CLCNKB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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