CLDN34

claudin 34

Basic information

Region (hg38): X:9967358-9968352

Links

ENSG00000234469 ∙ NCBI:100288814 ∙ ∙ HGNC:51259 ∙ Uniprot:H7C241 ∙ 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 CLDN34 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLDN34 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			14	2		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	2	0

Variants in CLDN34

This is a list of pathogenic ClinVar variants found in the CLDN34 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-9967370-T-G		not specified	Uncertain significance (Jun 22, 2023)
X-9967505-G-A		not specified	Uncertain significance (Aug 04, 2024)
X-9967529-T-C		not specified	Uncertain significance (Aug 16, 2021)
X-9967544-C-G		not specified	Uncertain significance (Jun 16, 2024)
X-9967544-C-T		not specified	Uncertain significance (Jul 09, 2021)
X-9967545-G-T		not specified	Uncertain significance (Dec 03, 2024)
X-9967570-T-A		not specified	Uncertain significance (Sep 02, 2024)
X-9967590-A-G		not specified	Uncertain significance (Apr 06, 2022)
X-9967607-T-G		not specified	Uncertain significance (Feb 28, 2024)
X-9967697-A-G		not specified	Likely benign (May 25, 2022)
X-9967728-A-G		not specified	Uncertain significance (Nov 15, 2021)
X-9967767-C-T		not specified	Uncertain significance (Jul 14, 2021)
X-9967881-T-C		not specified	Uncertain significance (Feb 15, 2023)
X-9967920-C-T		not specified	Likely benign (Dec 10, 2024)
X-9967924-G-A		not specified	Uncertain significance (Mar 06, 2023)
X-9967970-G-A		not specified	Uncertain significance (Dec 29, 2024)
X-9967979-C-T		not specified	Uncertain significance (Oct 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CLDN34	protein_coding	protein_coding	ENST00000445307	2	743

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000232	0.310	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.43	53	91.4	0.580	0.00000749	1399
Missense in Polyphen		13	20.26	0.64165		305
Synonymous	0.0168	35	35.1	0.996	0.00000313	422
Loss of Function	0.00552	7	7.02	0.998	6.73e-7	79

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|UniProtKB:O88552}.

Mouse Genome Informatics

• Gene name: Cldn34-ps

Gene ontology

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