CLDN10 claudin 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLDN10provided by HGNC
Official Full Name: claudin 10provided by HGNC
Primary source: HGNC:HGNC:2033
See related: Ensembl:ENSG00000134873 MIM:617579; AllianceGenome:HGNC:2033
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OSPL; HELIX; OSP-L; CPETRL3
Summary: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction 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. The expression level of this gene is associated with recurrence of primary hepatocellular carcinoma. Six alternatively spliced transcript variants encoding different isoforms have been reported, but the transcript sequences of some variants are not determined.[provided by RefSeq, Jun 2010]
Expression: Biased expression in kidney (RPKM 32.5), salivary gland (RPKM 18.3) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q32.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (95433755..95579759)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (94638308..94784309)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (96086009..96232013)

Chromosome 13 - NC_000013.11 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth.
Title: Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth.
Claudin-10 overexpression suppresses human clear cell renal cell carcinoma growth and metastasis by regulating ATP5O and causing mitochondrial dysfunction.
Title: Claudin-10 overexpression suppresses human clear cell renal cell carcinoma growth and metastasis by regulating ATP5O and causing mitochondrial dysfunction.
A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome.
Title: A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome.
Immune-related key gene CLDN10 correlates with lymph node metastasis but predicts favorable prognosis in papillary thyroid carcinoma.
Title: Immune-related key gene CLDN10 correlates with lymph node metastasis but predicts favorable prognosis in papillary thyroid carcinoma.
Study describes a novel claudinopathy that is based on mutations in the CLDN10 gene and characterized by an impaired function of mainly claudin-10b. Patients show a salt-losing nephropathy without hypercalciuria, and the severity of clinical manifestations may depend on site and type of mutation. [review]
Title: A Novel Claudinopathy Based on Claudin-10 Mutations.
The CLDN10 polymorphism of rs1325774 was significantly associated with an increased risk of breast cancer. After adjusting for age, the association remained statically significant. Furthermore, harbouring G allele in rs1325774 position was significantly associated with increased risk of breast cancer. However, no significant association among rs7333503, rs3751334, and breast cancer.
Title: CLDN10 single nucleotide polymorphism rs1325774 alters the risk of breast cancer in south chinese women.
These renal-derived features recapitulate several phenotypic aspects detected in mice with kidney specific loss of both claudin-10 isoforms. Our study adds to the spectrum of phenotypes caused by tight junction proteins and demonstrates a pivotal role for claudin-10b in maintaining paracellular Na+ permeability for sweat production and kidney function.
Title: Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.
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.
An algorithm combining CLDN10, HMGA2, and LAMB3 transcripts was able to discriminate tumors from BTL samples (94% sensitivity and 96% specificity in validation set).
Title: High Diagnostic Accuracy Based on CLDN10, HMGA2, and LAMB3 Transcripts in Papillary Thyroid Carcinoma.
Expression of CLDN1 and CLDN10 was lower in invasive lepidic predominant adenocarcinoma than in lung adenocarcioma in situ. Overexpression of CLDN1 and CLDN10 indicates a favorable prognosis in some patients with lung adenocarcinoma.
Title: Expression of CLDN1 and CLDN10 in lung adenocarcinoma in situ and invasive lepidic predominant adenocarcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
HELIX syndrome MedGen: C4522164 OMIM: 617671 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	The yeast two-hybrid screen identifies the HIV-1 Nef interacting human protein claudin 10 (CLDN10), which co-localizes with Nef mainly in the tight junction region and at the vesicular structures	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-4019 (e-PCR)
- UniSTS:48394

D13S1156 (e-PCR)
- UniSTS:11282

CLDN10 (e-PCR)
- UniSTS:505369

G54710 (e-PCR)
- UniSTS:117812

D13S1278 (e-PCR), detects polymorphism
- UniSTS:31299

RH103845 (e-PCR)
- UniSTS:98170

D13S627 (e-PCR)
- UniSTS:30861

SHGC-142196 (e-PCR)
- UniSTS:182684

SHGC-153634 (e-PCR)
- UniSTS:177855

D13S846E (e-PCR)
- UniSTS:151518

D9S1832 (e-PCR)
- UniSTS:2021

RH71267 (e-PCR)
- UniSTS:46842

RH13730 (e-PCR)
- UniSTS:61949

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables paracellular tight junction channel activity	IDA Inferred from Direct Assay more info	PubMed
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 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in paracellular transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of monoatomic ion transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
located_in bicellular tight junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	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 tight junction	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: claudin-10

Names: OSP-like protein; oligodendrocyte-specific protein-like

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.

Genomic

NG_047100.1 RefSeqGene

Range

124122..151161

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001160100.2 → NP_001153572.1 claudin-10 isoform a_i1

See identical proteins and their annotated locations for NP_001153572.1

Status: REVIEWED

Description

Transcript Variant: This variant (a_v1) uses an alternate in-frame splice site in the 5' coding region, compared to variant a. The resulting isoform (a_i1) lacks an internal segment near the N-terminus, compared to isoform a.

Source sequence(s)

AK055855, AL139376, BG697724, DB544708

UniProtKB/Swiss-Prot

P78369

Conserved Domains (1) summary

cl21598
Location:9 → 158

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_006984.5 → NP_008915.1 claudin-10 isoform b

See identical proteins and their annotated locations for NP_008915.1

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.

Source sequence(s)

AK055855, AL139376, BC010920, BG697724, DA133712, DB544708

Consensus CDS

CCDS9476.1

UniProtKB/Swiss-Prot

P78369, Q6IBF9, Q96N78

Related

ENSP00000299339.2, ENST00000299339.3

Conserved Domains (1) summary

pfam00822
Location:4 → 179

PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
NM_182848.4 → NP_878268.1 claudin-10 isoform a

See identical proteins and their annotated locations for NP_878268.1

Status: REVIEWED

Description

Transcript Variant: This variant (a) represents the longest transcript and encodes isoform a.

Source sequence(s)

AK055855, AL139376, BG697724, DB544708

Consensus CDS

CCDS9475.1

UniProtKB/Swiss-Prot

P78369

Related

ENSP00000366069.2, ENST00000376873.7

Conserved Domains (1) summary

cl21598
Location:9 → 177

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