CLDN8

claudin 8, the group of Claudins

Basic information

Region (hg38): 21:30214006-30216097

Links

ENSG00000156284NCBI:9073OMIM:611231HGNC:2050Uniprot:P56748AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CLDN8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLDN8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
18
clinvar
2
clinvar
3
clinvar
23
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 18 2 3

Variants in CLDN8

This is a list of pathogenic ClinVar variants found in the CLDN8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
21-30215279-G-A Benign (Dec 01, 2022)2652580
21-30215287-C-A not specified Uncertain significance (Sep 16, 2021)2250863
21-30215302-A-C Likely benign (Sep 01, 2024)3390330
21-30215303-C-A not specified Uncertain significance (Dec 13, 2022)2333944
21-30215306-T-A not specified Uncertain significance (Sep 23, 2023)3145530
21-30215316-T-C not specified Uncertain significance (Jun 05, 2024)3267629
21-30215324-G-A not specified Uncertain significance (Dec 08, 2023)3145529
21-30215387-G-A not specified Uncertain significance (Sep 02, 2024)3493455
21-30215391-C-T not specified Uncertain significance (Oct 20, 2023)3145528
21-30215463-C-A not specified Uncertain significance (Dec 17, 2024)3833866
21-30215468-A-T not specified Uncertain significance (Dec 03, 2024)3493451
21-30215474-G-A not specified Uncertain significance (Sep 20, 2023)3145527
21-30215526-G-A not specified Uncertain significance (Nov 12, 2024)3493452
21-30215568-G-A Uncertain significance (-)64606
21-30215592-C-T not specified Uncertain significance (May 20, 2024)3267628
21-30215598-C-T not specified Uncertain significance (Dec 15, 2022)2335267
21-30215625-C-T not specified Uncertain significance (Apr 17, 2023)2535523
21-30215636-A-G Benign (Jun 30, 2017)777614
21-30215645-G-A Benign (Apr 03, 2018)769122
21-30215670-C-T not specified Uncertain significance (Jan 08, 2024)3145525
21-30215741-A-G not specified Uncertain significance (Jun 25, 2024)3493454
21-30215764-G-T Uncertain significance (-)64605
21-30215788-G-C not specified Likely benign (Oct 20, 2021)2256056
21-30215831-A-G not specified Uncertain significance (Jan 17, 2025)3833867
21-30215844-G-A not specified Uncertain significance (Aug 16, 2021)2245782

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CLDN8protein_codingprotein_codingENST00000399899 12068
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.01620.72000000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1711381321.040.000007231463
Missense in Polyphen4851.9150.92459594
Synonymous0.2875153.70.9500.00000354455
Loss of Function0.70334.630.6471.96e-755

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Tight-junction protein required for paracellular chloride transport in the kidney. Mediates recruitment of CLDN4 to tight junction in the kidney. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. {ECO:0000250|UniProtKB:Q9Z260}.;
Pathway
Cell adhesion molecules (CAMs) - Homo sapiens (human);Tight junction - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);EMT transition in Colorectal Cancer;Tight junction interactions;Cell-cell junction organization;Cell junction organization;Cell-Cell communication (Consensus)

Recessive Scores

pRec
0.129

Intolerance Scores

loftool
0.290
rvis_EVS
1.04
rvis_percentile_EVS
91.21

Haploinsufficiency Scores

pHI
0.119
hipred
N
hipred_score
0.248
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.454

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Cldn8
Phenotype
cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); renal/urinary system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules
Cellular component
endoplasmic reticulum;plasma membrane;bicellular tight junction;integral component of membrane;basolateral plasma membrane;apicolateral plasma membrane
Molecular function
structural molecule activity;protein binding;identical protein binding