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

    Gene ID: 153562, updated on 28-Oct-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
    mouse all
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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 forms a barrier to macromolecules in tricellular tight junctions without affecting ion permeability. Krug SM, et al. Mol Biol Cell, 2009 Aug. PMID 19535456, Free PMC Article
    2. 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
    3. A look at tricellulin and its role in tight junction formation and maintenance. Mariano C, et al. Eur J Cell Biol, 2011 Oct. PMID 21868126
    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. 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

    See all (63) 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
    		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)

    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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    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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