Cldn10 claudin 10 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cldn10provided by MGI
Official Full Name: claudin 10provided by MGI
Primary source: MGI:MGI:1913101
See related: Ensembl:ENSMUSG00000022132 AllianceGenome:MGI:1913101
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cldn10a; Cldn10b; D14Ertd728e; 6720456I16Rik
Summary: This intronless gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight unction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Six alternatively spliced transcript variants have been identified, which encode different isoforms with distinct electric charge of the first extracellular loop and with or without the fourth transmembrane region. These isoforms exhibit distinct localization and function in paracellular anion or cation permeability. [provided by RefSeq, Aug 2010]
Expression: Biased expression in kidney adult (RPKM 74.8), genital fat pad adult (RPKM 19.6) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 E4; 14 62.55 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (119025283..119111937)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (118787871..118874525)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unrecognized role of claudin-10b in basolateral membrane infoldings of the thick ascending limb.
Title: Unrecognized role of claudin-10b in basolateral membrane infoldings of the thick ascending limb.
Claudin-10a Deficiency Shifts Proximal Tubular Cl(-) Permeability to Cation Selectivity via Claudin-2 Redistribution.
Title: Claudin-10a Deficiency Shifts Proximal Tubular Cl(-) Permeability to Cation Selectivity via Claudin-2 Redistribution.
Severe individual renal phenotypes in claudin-10 and claudin-16 knockout mice are corrected by the additional deletion of the other claudin.
Title: Deletion of claudin-10 rescues claudin-16-deficient mice from hypomagnesemia and hypercalciuria.
ConclusionCLDN10 mutations cause a dysfunction in TJs in several tissues and, subsequently, abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity.
Title: Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
findings suggest that the axis IL-10/claudin-10 is a promising target for the development of therapeutic agents against aggressive melanoma
Title: The axis IL-10/claudin-10 is implicated in the modulation of aggressiveness of melanoma cells by B-1 lymphocytes.
localization of Cldn3, Cldn7 and Cldn10 proteins in the different compartments of murine endometrium up to day 8.5 of pregnancy (dpc) as well as in human endometrium and first trimester decidua
Title: Claudin-3, claudin-7, and claudin-10 show different distribution patterns during decidualization and trophoblast invasion in mouse and human.
These data identify claudin-10 as a key factor in control of cation selectivity and transport in the thick ascending limb, and deficiency in this pathway as a cause of nephrocalcinosis.
Title: Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis.
Claudin-10 exists in six alternatively spliced isoforms that exhibit distinct localization and function.
Title: Claudin-10 exists in six alternatively spliced isoforms that exhibit distinct localization and function.
alternative splicing of claudin-10 generates unique permselectivities and might contribute to the variable paracellular transport observed along the nephron
Title: Two splice variants of claudin-10 in the kidney create paracellular pores with different ion selectivities.
Claudin-10 is expressed at the variety of epithelial tissues in the coclea of inner ear including Organ of Corti, stria vascularis, Reissner's membrane, and spiral limbus.
Title: Expression patterns of claudins, tight junction adhesion molecules, in the inner ear.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (1)

General gene information

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Markers

MARC_17465-17466:1022854475:1 (e-PCR)
- UniSTS:268307

Cldn10a (e-PCR), detects polymorphism
- UniSTS:465444

NoName (e-PCR)
- UniSTS:465374

D14Ertd728e (e-PCR), detects polymorphism
- UniSTS:167147

Cldn10a (e-PCR), detects polymorphism
- UniSTS:495868

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
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 monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of monoatomic ion transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	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	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: claudin-10

Names: claudin 10B; claudin-10A

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.

mRNA and Protein(s)

NM_001160096.1 → NP_001153568.1 claudin-10 isoform a_i1

Status: REVIEWED

Description

Transcript Variant: This variant (a_v1) lacks an alternate in-frame segment in the 5' coding region, compared to variant a. The resulting isoform (a_i1) lacks an internal segment within the first extracellular loop, compared to isoform a. This variant is expressed only in kidney and uterus.

Source sequence(s)

AI851016, CA467408, CA481582

UniProtKB/Swiss-Prot

Q9Z0S6

Conserved Domains (1) summary

cl21598
Location:9 → 158

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001160097.1 → NP_001153569.1 claudin-10 isoform a_i2

Status: REVIEWED

Description

Transcript Variant: This variant (a_v2) lacks an alternate in-frame exon in the 3' coding region, compared to variant a. The resulting isoform (a_i2) lacks an internal segment including the entire fourth transmembrane region, compared to isoform a. This variant is expressed only in kidney and uterus.

Source sequence(s)

AI851016, AK020131, CA467408, CK332009

Consensus CDS

CCDS49566.1

UniProtKB/Swiss-Prot

Q9Z0S6

Related

ENSMUSP00000071476.7, ENSMUST00000071546.14

Conserved Domains (1) summary

cl21598
Location:9 → 148

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001160098.1 → NP_001153570.1 claudin-10 isoform a_i3

Status: REVIEWED

Description

Transcript Variant: This variant (a_v3) lacks an alternate in-frame segment in the 5' coding region and an alternate in-frame exon in the 3' coding region, compared to variant a. The resulting isoform (a_i3) lacks an internal segment within the first extracellular loop and an internal segment including the entire fourth transmembrane region, compared to isoform a. This variant is expressed only in kidney and uterus.

Source sequence(s)

AI851016, CA467408, CA481582

UniProtKB/Swiss-Prot

Q9Z0S6

Conserved Domains (1) summary

cl21598
Location:9 → 129

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_001160099.1 → NP_001153571.1 claudin-10 isoform b_i1

Status: REVIEWED

Description

Transcript Variant: This variant (b_v1) differs in the 5' UTR and 5' coding region, representing use of an alternate promoter, and lacks an alternate in-frame exon in the 3' coding region, compared to variant a. The resulting isoform (b_i1) has a longer and distinct N-terminus and lacks an internal segment including the entire fourth transmembrane region, compared to isoform a. This variant is expressed in all tissues tested, with lowest expression in liver and highest expression in kidney.

Source sequence(s)

AI851016, CK794879

UniProtKB/Swiss-Prot

Q9Z0S6

Conserved Domains (1) summary

cl21598
Location:4 → 150

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_021386.4 → NP_067361.2 claudin-10 isoform b

See identical proteins and their annotated locations for NP_067361.2

Status: REVIEWED

Description

Transcript Variant: This variant (b) differs in the 5' UTR and 5' coding region, representing use of an alternate promoter, compared to variant a. The resulting isoform (b) has a longer and distinct N-terminus, compared to isoform a. This variant is expressed in all tissues tested, with lowest expression in liver and highest expression in kidney.

Source sequence(s)

AI851016, CK794879

Consensus CDS

CCDS37010.1

UniProtKB/Swiss-Prot

E9PVC8, E9PWP4, E9QMP1, Q8VC62, Q9CX57, Q9Z0S6

Related

ENSMUSP00000097889.4, ENSMUST00000100314.4

Conserved Domains (1) summary

pfam00822
Location:4 → 179

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_023878.3 → NP_076367.2 claudin-10 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (a) represents the longest transcript and encodes isoform a, which is predicted to span the membrane four times with a structure of two extracellular loops, four transmembrane regions and a cytoplasmic tail. This variant is expressed only in kidney and uterus.

Source sequence(s)

AI851016, AK020131, CA467408, CK332009

Consensus CDS

CCDS37009.1

UniProtKB/Swiss-Prot

Q9Z0S6

Related

ENSMUSP00000041616.6, ENSMUST00000047761.13

Conserved Domains (1) summary

cl21598
Location:9 → 177

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family