Seroatlas · Human Serome Atlas

CLIC5

Chloride intracellular channel protein 5

Also known as: CLIC5_HUMAN, DFNB102

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

Protein identityUniProt · HPA

UniProt accession: Q9NZA1
Gene: CLIC5
Ensembl: ENSG00000112782
Chromosome: 6
Canonical length: 410 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Nuclear speckles,Plasma membrane

OverviewNCBI Gene

This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

410 residues, UniProt reviewed canonical sequence.

>Q9NZA1|CLIC5
     1  MNDEDYSTIY DTIQNERTYE VPDQPEENES PHYDDVHEYL RPENDLYATQ LNTHEYDFVS
    61  VYTIKGEETS LASVQSEDRG YLLPDEIYSE LQEAHPGEPQ EDRGISMEGL YSSTQDQQLC
   121  AAELQENGSV MKEDLPSPSS FTIQHSKAFS TTKYSCYSDA EGLEEKEGAH MNPEIYLFVK
   181  AGIDGESIGN CPFSQRLFMI LWLKGVVFNV TTVDLKRKPA DLHNLAPGTH PPFLTFNGDV
   241  KTDVNKIEEF LEETLTPEKY PKLAAKHRES NTAGIDIFSK FSAYIKNTKQ QNNAALERGL
   301  TKALKKLDDY LNTPLPEEID ANTCGEDKGS RRKFLDGDEL TLADCNLLPK LHVVKIVAKK
   361  YRNYDIPAEM TGLWRYLKNA YARDEFTNTC AADSEIELAY ADVAKRLSRS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CLIC5 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: 1
Mean surface accessibility (rSASA): 0.45
Highest tissue expression: 271 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 271 nTPM
heart muscle: 96 nTPM
tongue: 92 nTPM
lung: 67 nTPM
kidney: 52 nTPM
spleen: 42 nTPM

Single-cell type

podocytes: 3,048 nCPM
alveolar cells type 1: 993 nCPM
myonuclei: 427 nCPM
enterocytes: 408 nCPM
cardiomyocytes: 334 nCPM
transitional alveolar cells: 314 nCPM

Immune cell

MAIT T-cell: 5.1 nTPM
memory CD4 T-cell: 2 nTPM
gdT-cell: 1.5 nTPM
memory CD8 T-cell: 1.3 nTPM
T-reg: 1 nTPM
total PBMC: 0.5 nTPM

Brain region

thalamus: 12 nTPM
hypothalamus: 11 nTPM
basal ganglia: 9.5 nTPM
midbrain: 8.8 nTPM
amygdala: 6.8 nTPM
cerebral cortex: 6.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CLIC5.

Disease | AllUniProt

Conditions CLIC5 is implicated in, by any mechanism.

Deafness, autosomal recessive, 103 (DFNB103) MIM:616042

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 208 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive nonsyndromic hearing loss 103
Hearing loss, autosomal recessive

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): 1.17
gnomAD pLI: 0
gnomAD missense Z: 0.54
DepMap mean gene effect: 0.11
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 CLIC5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CLIC5 as an antibody target. Whether an autoantibody or antibody against CLIC5 could matter depends on whether native CLIC5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CLIC5 is annotated at the cell surface, where native CLIC5 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 CLIC5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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