cldn5a claudin 5a [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: cldn5aprovided by ZNC
Official Full Name: claudin 5aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-2442
See related: Ensembl:ENSDARG00000043716 AllianceGenome:ZFIN:ZDB-GENE-040426-2442
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: cldn5; zgc:85723
Summary: Predicted to enable structural molecule activity. Acts upstream of or within Kupffer's vesicle development; determination of heart left/right asymmetry; and establishment of endothelial barrier. Located in apical junction complex. Is expressed in several structures, including central nervous system; hyaloid vessel; immature eye; neural tube; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in schizophrenia. Orthologous to human CLDN5 (claudin 5). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 8

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	8	NC_007119.7 (4697764..4699270)
105	previous assembly	GRCz10 (GCF_000002035.5)	8	NC_007119.6 (4641497..4643003)

Chromosome 8 - NC_007119.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Title: Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
The tight junction protein Claudin-5 limits endothelial cell motility.
Title: The tight junction protein Claudin-5 limits endothelial cell motility.
Downregulation of cldn5a in zebrafish showed a failure in organ laterality that resulted from malformed Kupffer's vesicle
Title: Claudin5a is required for proper inflation of Kupffer's vesicle lumen and organ laterality.
identify Claudin5a as a core component of an early cerebral-ventricular barrier system that is required for ventricular lumen expansion in the zebrafish embryonic brain before the establishment of the embryonic blood-brain barrier.
Title: Establishment of a neuroepithelial barrier by Claudin5a is essential for zebrafish brain ventricular lumen expansion.

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General gene information

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Markers

z49594 (e-PCR), detects polymorphism
- UniSTS:238673

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Kupffer's vesicle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bicellular tight junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within determination of heart left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of endothelial barrier	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in apical junction complex	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: claudin 5a

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.