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MARVELD2 MARVEL domain containing 2 [ Homo sapiens (human) ]

Gene ID: 153562, updated on 3-Nov-2024

Summary

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Official Symbol
MARVELD2provided by HGNC
Official Full Name
MARVEL domain containing 2provided by HGNC
Primary source
HGNC:HGNC:26401
See related
Ensembl:ENSG00000152939 MIM:610572; AllianceGenome:HGNC:26401
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
Tric; DFNB49; MARVD2; MRVLDC2
Summary
The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Expression
Broad expression in thyroid (RPKM 13.9), colon (RPKM 5.1) and 16 other tissues See more
Orthologs
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Genomic context

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See MARVELD2 in Genome Data Viewer
Location:
5q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (69415116..69444330)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (70241108..70269905)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (68710943..68740157)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit B9 pseudogene 1 Neighboring gene adenylate kinase 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68665899-68666448 Neighboring gene TATA-box binding protein associated factor 9 Neighboring gene RAD17 checkpoint clamp loader component Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:68710720-68711603 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:68711604-68712486 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:68737437-68737634 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:68758407-68758575 Neighboring gene ribosomal protein S27 pseudogene 14 Neighboring gene uncharacterized LOC101928924 Neighboring gene RNA, 7SL, cytoplasmic 616, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Tricellulin expression in normal and neoplastic human pancreas. Korompay A, et al. Histopathology, 2012 May. PMID 22394074
  2. c-Jun N-terminal kinase is largely involved in the regulation of tricellular tight junctions via tricellulin in human pancreatic duct epithelial cells. Kojima T, et al. J Cell Physiol, 2010 Nov. PMID 20533305
  3. Contribution of the tricellular tight junction to paracellular permeability in leaky and tight epithelia. Krug SM. Ann N Y Acad Sci, 2017 Jun. PMID 28605032
  4. A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. Taghipour-Sheshdeh A, et al. Genomics, 2019 Jul. PMID 29752989
  5. Expression and localization of tricellulin in human nasal epithelial cells in vivo and in vitro. Ohkuni T, et al. Med Mol Morphol, 2009 Dec. PMID 20033365

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SARS-CoV-2 NSP12 associates with TRiC and the P323L substitution acts as a host adaption.
    Title: SARS-CoV-2 NSP12 associates with TRiC and the P323L substitution acts as a host adaption.
  2. Structural basis of plp2-mediated cytoskeletal protein folding by TRiC/CCT.
    Title: Structural basis of plp2-mediated cytoskeletal protein folding by TRiC/CCT.
  3. Co-occurrence of two rare genetic diseases: A potential pitfall for prenatal diagnosis in successive pregnancies.
    Title: Co-occurrence of two rare genetic diseases: A potential pitfall for prenatal diagnosis in successive pregnancies.
  4. Association of tricellulin expression with poor colorectal cancer prognosis and metastasis.
    Title: Association of tricellulin expression with poor colorectal cancer prognosis and metastasis.
  5. Recessive insertion variant in the MARVELD2 segregates with non-syndromic hearing loss in an Iranian family.
    Title: A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
  6. ELISA revealed that Crohn's Disease twins demonstrated significantly lower levels of tight junction protein tricellulin compared with external controls.
    Title: Gut Barrier Dysfunction-A Primary Defect in Twins with Crohn's Disease Predominantly Caused by Genetic Predisposition.
  7. this study shows that tricellulin is regulated via interleukin-13-receptor alpha2, affects macromolecule uptake, and is decreased in ulcerative colitis
    Title: Tricellulin is regulated via interleukin-13-receptor α2, affects macromolecule uptake, and is decreased in ulcerative colitis.
  8. Our results provide new insights into the function of tricellulin, and its nuclear localization may become a new prognostic factor for pancreatic cancers.
    Title: Nuclear localization of tricellulin promotes the oncogenic property of pancreatic cancer.
  9. GSK3beta may inhibit VRK2 catalytic activity by disrupting its flexibility. The inhibition of VRK2 catalytic activity by GSK3beta may also inhibit VRK2-induced degradation of TRiC, which could suppress polyQ-expanded Htt aggregation.
    Title: Glycogen synthase kinase 3β suppresses polyglutamine aggregation by inhibiting Vaccinia-related kinase 2 activity.
  10. Tricellulin-dependent macromolecule passage was comparably regulated in leaky and tight epithelia, but relative and absolute ion permeabilities of the tricellular tight junction (tTJ) were different.
    Title: Contribution of the tricellular tight junction to paracellular permeability in leaky and tight epithelia.
Submit: New GeneRIF Correction See all GeneRIFs (31)

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
Autosomal recessive nonsyndromic hearing loss 49
MedGen: C1857811 OMIM: 610153 GeneReviews: Genetic Hearing Loss Overview
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ30532

Gene Ontology Provided by GOA

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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cell-cell junction organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in establishment of endothelial barrier IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Schmidt-Lanterman incisure 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 IDA
Inferred from Direct Assay
more info
 PubMed 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
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 cell junction IDA
Inferred from Direct Assay
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in paranodal junction IEA
Inferred from Electronic Annotation
more info
  
located_in tight junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in tricellular tight junction IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
MARVEL domain-containing protein 2
Names
MARVEL (membrane-associating) domain containing 2
tricellulin

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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

  1. NG_017201.2 RefSeqGene

    Range
    5005..34219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1380

mRNA and Protein(s)

  1. NM_001038603.3 → NP_001033692.2  MARVEL domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001033692.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC145146, AK292962, BC033689, BG943115
    Consensus CDS
    CCDS34175.1
    UniProtKB/Swiss-Prot
    A1BQX0, A1BQX1, A8KA97, Q8N4S9, Q96NM9
    UniProtKB/TrEMBL
    D6RA09
    Related
    ENSP00000323264.5, ENST00000325631.10
    Conserved Domains (2) summary
    pfam01284
    Location:185 → 361
    MARVEL; Membrane-associating domain
    pfam07303
    Location:449 → 547
    Occludin_ELL; Occludin homology domain

  2. NM_001244734.2 → NP_001231663.1  MARVEL domain-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001231663.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC145146, BC033689, BG943115, DQ682657
    Consensus CDS
    CCDS58956.1
    UniProtKB/TrEMBL
    D6RA09
    Related
    ENSP00000396244.2, ENST00000454295.6
    Conserved Domains (2) summary
    pfam01284
    Location:185 → 361
    MARVEL; Membrane-associating domain
    pfam07303
    Location:437 → 535
    Occludin_ELL; Occludin homology domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    69415116..69444330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248445.5 → XP_005248502.1  MARVEL domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005248502.1

    UniProtKB/Swiss-Prot
    A1BQX0, A1BQX1, A8KA97, Q8N4S9, Q96NM9
    UniProtKB/TrEMBL
    D6RA09
    Related
    ENSP00000423490.1, ENST00000512803.5
    Conserved Domains (2) summary
    pfam01284
    Location:185 → 361
    MARVEL; Membrane-associating domain
    pfam07303
    Location:449 → 547
    Occludin_ELL; Occludin homology domain

  2. XM_005248447.5 → XP_005248504.1  MARVEL domain-containing protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005248504.1

    UniProtKB/TrEMBL
    D6RA09
    Conserved Domains (2) summary
    pfam01284
    Location:185 → 361
    MARVEL; Membrane-associating domain
    pfam07303
    Location:437 → 535
    Occludin_ELL; Occludin homology domain

  3. XM_005248446.5 → XP_005248503.1  MARVEL domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005248503.1

    UniProtKB/Swiss-Prot
    A1BQX0, A1BQX1, A8KA97, Q8N4S9, Q96NM9
    UniProtKB/TrEMBL
    D6RA09
    Conserved Domains (2) summary
    pfam01284
    Location:185 → 361
    MARVEL; Membrane-associating domain
    pfam07303
    Location:449 → 547
    Occludin_ELL; Occludin homology domain

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791777.1 Reference GRCh38.p14 PATCHES

    Range
    81863..111101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333013.1 → XP_054188988.1  MARVEL domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A1BQX0, A1BQX1, A8KA97, Q8N4S9, Q96NM9

  2. XM_054333015.1 → XP_054188990.1  MARVEL domain-containing protein 2 isoform X2

  3. XM_054333014.1 → XP_054188989.1  MARVEL domain-containing protein 2 isoform X2

  4. XM_054333012.1 → XP_054188987.1  MARVEL domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    A1BQX0, A1BQX1, A8KA97, Q8N4S9, Q96NM9

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    198539..227323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329490.1 → XP_054185465.1  MARVEL domain-containing protein 2 isoform X1

  2. XM_054329492.1 → XP_054185467.1  MARVEL domain-containing protein 2 isoform X2

  3. XM_054329491.1 → XP_054185466.1  MARVEL domain-containing protein 2 isoform X1

  4. XM_054329493.1 → XP_054185468.1  MARVEL domain-containing protein 2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    70241108..70269905
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351799.1 → XP_054207774.1  MARVEL domain-containing protein 2 isoform X1

  2. XM_054351802.1 → XP_054207777.1  MARVEL domain-containing protein 2 isoform X2

  3. XM_054351801.1 → XP_054207776.1  MARVEL domain-containing protein 2 isoform X2

  4. XM_054351800.1 → XP_054207775.1  MARVEL domain-containing protein 2 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_144724.1: Suppressed sequence

    Description
    NM_144724.1: This RefSeq was permanently suppressed because it contains an intron with non-consensus splice sites that is not sufficiently supported by available transcript data.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N4S9.2 GenPept UniProtKB/Swiss-Prot:Q8N4S9

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