CLDN8

claudin 8, the group of Claudins

Basic information

Region (hg38): 21:30214006-30216097

Links

ENSG00000156284 ∙ NCBI:9073 ∙ OMIM:611231 ∙ HGNC:2050 ∙ Uniprot:P56748 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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	2	3	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)
21-30215287-C-A		not specified	Uncertain significance (Sep 16, 2021)
21-30215302-A-C			Likely benign (Sep 01, 2024)
21-30215303-C-A		not specified	Uncertain significance (Dec 13, 2022)
21-30215306-T-A		not specified	Uncertain significance (Sep 23, 2023)
21-30215316-T-C		not specified	Uncertain significance (Jun 05, 2024)
21-30215324-G-A		not specified	Uncertain significance (Dec 08, 2023)
21-30215387-G-A		not specified	Uncertain significance (Sep 02, 2024)
21-30215391-C-T		not specified	Uncertain significance (Oct 20, 2023)
21-30215463-C-A		not specified	Uncertain significance (Dec 17, 2024)
21-30215468-A-T		not specified	Uncertain significance (Dec 03, 2024)
21-30215474-G-A		not specified	Uncertain significance (Sep 20, 2023)
21-30215526-G-A		not specified	Uncertain significance (Nov 12, 2024)
21-30215568-G-A			Uncertain significance (-)
21-30215592-C-T		not specified	Uncertain significance (May 20, 2024)
21-30215598-C-T		not specified	Uncertain significance (Dec 15, 2022)
21-30215625-C-T		not specified	Uncertain significance (Apr 17, 2023)
21-30215636-A-G			Benign (Jun 30, 2017)
21-30215645-G-A			Benign (Apr 03, 2018)
21-30215670-C-T		not specified	Uncertain significance (Jan 08, 2024)
21-30215741-A-G		not specified	Uncertain significance (Jun 25, 2024)
21-30215764-G-T			Uncertain significance (-)
21-30215788-G-C		not specified	Likely benign (Oct 20, 2021)
21-30215831-A-G		not specified	Uncertain significance (Jan 17, 2025)
21-30215844-G-A		not specified	Uncertain significance (Aug 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CLDN8	protein_coding	protein_coding	ENST00000399899	1	2068

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0162	0.720	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.171	138	132	1.04	0.00000723	1463
Missense in Polyphen		48	51.915	0.92459		594
Synonymous	0.287	51	53.7	0.950	0.00000354	455
Loss of Function	0.703	3	4.63	0.647	1.96e-7	55

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.454

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

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