CLDN24

claudin 24, the group of Claudins

Basic information

Region (hg38): 4:183321764-183322426

Previous symbols: [ "CLDN21" ]

Links

ENSG00000185758 ∙ NCBI:100132463 ∙ ∙ HGNC:37200 ∙ Uniprot:A6NM45 ∙ 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 CLDN24 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLDN24 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			9	2		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	2	0

Variants in CLDN24

This is a list of pathogenic ClinVar variants found in the CLDN24 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-183321822-G-A		not specified	Uncertain significance (Jul 31, 2023)
4-183321970-C-T		not specified	Likely benign (Sep 07, 2022)
4-183321999-T-C		not specified	Uncertain significance (Jun 13, 2024)
4-183322018-C-T		not specified	Uncertain significance (Nov 18, 2022)
4-183322024-C-G		not specified	Uncertain significance (Feb 14, 2023)
4-183322048-A-G		not specified	Uncertain significance (Apr 29, 2024)
4-183322068-A-T		not specified	Uncertain significance (Feb 06, 2023)
4-183322083-T-G		not specified	Uncertain significance (Jun 24, 2022)
4-183322107-A-G		not specified	Likely benign (Jun 29, 2023)
4-183322222-A-T		not specified	Uncertain significance (May 10, 2023)
4-183322239-T-C		not specified	Uncertain significance (Dec 03, 2021)
4-183322274-C-G		not specified	Uncertain significance (Dec 15, 2022)
4-183322410-C-G		not specified	Uncertain significance (Dec 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CLDN24	protein_coding	protein_coding	ENST00000541814	1	663

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000204	0.155	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.452	98	111	0.879	0.00000530	1390
Missense in Polyphen		35	32.613	1.0732		411
Synonymous	-0.403	51	47.5	1.07	0.00000256	459
Loss of Function	-0.435	8	6.78	1.18	3.72e-7	69

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: Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity. {ECO:0000250}.
• 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 (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.139

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cldn24

Gene ontology

• Cellular component: plasma membrane;bicellular tight junction;integral component of membrane
• Molecular function: structural molecule activity