Marveld2 MARVEL (membrane-associating) domain containing 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Marveld2provided by MGI
Official Full Name: MARVEL (membrane-associating) domain containing 2provided by MGI
Primary source: MGI:MGI:2446166
See related: Ensembl:ENSMUSG00000021636 AllianceGenome:MGI:2446166
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Tric; Trica; Tricb; Tricc; MARVD2; Mrvldc2
Summary: Acts upstream of or within cell-cell junction organization and sensory perception of sound. Located in Schmidt-Lanterman incisure; paranodal junction; and tight junction. Is expressed in several structures, including brain; genitourinary system; gut; immune system; and sensory organ. Used to study autosomal recessive nonsyndromic deafness 49. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 49. Orthologous to human MARVELD2 (MARVEL domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in large intestine adult (RPKM 10.0), colon adult (RPKM 8.9) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 D1; 13 53.23 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (100732465..100753479, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (100595957..100616971, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Tricellulin, alpha-Catenin and Microfibrillar-Associated Protein 5 Exhibit Concomitantly Altered Immunosignals along with Vascular, Extracellular and Cytoskeletal Elements after Experimental Focal Cerebral Ischemia.
Title: Tricellulin, α-Catenin and Microfibrillar-Associated Protein 5 Exhibit Concomitantly Altered Immunosignals along with Vascular, Extracellular and Cytoskeletal Elements after Experimental Focal Cerebral Ischemia.
Tricellulin secures the epithelial barrier at tricellular junctions by interacting with actomyosin.
Title: Tricellulin secures the epithelial barrier at tricellular junctions by interacting with actomyosin.
This study has shown that the Endolymphatic Sac in Tric-/- mice showed no changes in morphology or disruption in macromolecular barrier function. The effects of solute leakages in the ES of Tric-/- mice may be very limited and compensable, or that the ES epithelia may have other sealing system covering the lack of tricellulin.
Title: Tricellulin Expression and its Deletion Effects in the Endolymphatic Sac.
Findings suggest that both tricellular tight junctions proteins TRIC and LSR have crucial roles for the differentiated cochlear cell survival.
Title: Histone deacetylase inhibition prevents cell death induced by loss of tricellular tight junction proteins in temperature-sensitive mouse cochlear cells.
Tricellulin is a specific redox sensor and sealing element at 3-cell contacts and may compensate as a redox mediator for occludin loss at 2-cell contacts in vivo and in vitro.
Title: Redox Regulation of Cell Contacts by Tricellulin and Occludin: Redox-Sensitive Cysteine Sites in Tricellulin Regulate Both Tri- and Bicellular Junctions in Tissue Barriers as Shown in Hypoxia and Ischemia.
GFP-tagged angulin-1/LSR, in which serine 288 was substituted by alanine, was observed to be dispersed to bicellular junctions, indicating that phosphorylation of Ser288 is crucial for the exclusive localization of angulin-1/LSR and tricellulin at tTJs.
Title: JNK1/2-dependent phosphorylation of angulin-1/LSR is required for the exclusive localization of angulin-1/LSR and tricellulin at tricellular contacts in EpH4 epithelial sheet.
localization of angulin-1/LSR and tricellulin at tricellular contacts of brain and retinal endothelial cells in vivo
Title: Localization of angulin-1/LSR and tricellulin at tricellular contacts of brain and retinal endothelial cells in vivo.
Loss of tricellulin prevented the coalition of the strands of the bicellular junction with the central element of the tricellular junction in the inner ear epithelia.
Title: Tricellulin deficiency affects tight junction architecture and cochlear hair cells.
The findings show the heterogeneity of the molecular organization of tTJs in terms of the content of LSR, ILDR1 or ILDR2, and suggest that ILDR1-mediated recruitment of tricellulin to TCs is required for hearing.
Title: Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis.
The tricellulin may be a component to maintain the integrity for PNS myelin function and morphology.
Title: Tricellulin is expressed in autotypic tight junctions of peripheral myelinating Schwann cells.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Targeted (4) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bicellular tight junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicellular tight junction assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell-cell junction organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell-cell junction organization	ISO Inferred from Sequence Orthology more info
involved_in establishment of endothelial barrier	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Schmidt-Lanterman incisure	IDA Inferred from Direct Assay more info	PubMed
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology 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 bicellular tight junction	ISO Inferred from Sequence Orthology more info
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in paranodal junction	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in tight junction	ISO Inferred from Sequence Orthology more info
located_in tricellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in tricellular tight junction	IMP Inferred from Mutant Phenotype more info	PubMed
located_in tricellular tight junction	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: MARVEL domain-containing protein 2

Names: tricellulin

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_001038602.4 → NP_001033691.1 MARVEL domain-containing protein 2 isoform 1

See identical proteins and their annotated locations for NP_001033691.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC165159, AK133741

Consensus CDS

CCDS26732.1

UniProtKB/Swiss-Prot

Q3UZP0, Q80UJ4, Q99LE8

UniProtKB/TrEMBL

A1BQX3

Related

ENSMUSP00000022137.8, ENSMUST00000022137.14

Conserved Domains (2) summary

pfam01284
Location:182 → 358

MARVEL; Membrane-associating domain

pfam07303
Location:443 → 545

Occludin_ELL; Occludin homology domain
NM_178410.3 → NP_848497.2 MARVEL domain-containing protein 2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC165159

Consensus CDS

CCDS49345.1

UniProtKB/TrEMBL

E9Q1T5

Related

ENSMUSP00000129990.2, ENSMUST00000163163.9

Conserved Domains (1) summary

pfam07303
Location:169 → 267

Occludin_ELL; Occludin homology domain