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

    Gene ID: 153562, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ30532

    Gene Ontology Provided by GOA

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

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

    NCBI Reference Sequences (RefSeq)

    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_001038603.3NP_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:185361
      MARVEL; Membrane-associating domain
      pfam07303
      Location:449547
      Occludin_ELL; Occludin homology domain
    2. NM_001244734.2NP_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:185361
      MARVEL; Membrane-associating domain
      pfam07303
      Location:437535
      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_005248445.5XP_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:185361
      MARVEL; Membrane-associating domain
      pfam07303
      Location:449547
      Occludin_ELL; Occludin homology domain
    2. XM_005248447.5XP_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:185361
      MARVEL; Membrane-associating domain
      pfam07303
      Location:437535
      Occludin_ELL; Occludin homology domain
    3. XM_005248446.5XP_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:185361
      MARVEL; Membrane-associating domain
      pfam07303
      Location:449547
      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_054333013.1XP_054188988.1  MARVEL domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A1BQX0, A1BQX1, A8KA97, Q8N4S9, Q96NM9
      UniProtKB/TrEMBL
      D6RA09
    2. XM_054333015.1XP_054188990.1  MARVEL domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      D6RA09
    3. XM_054333014.1XP_054188989.1  MARVEL domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      D6RA09
    4. XM_054333012.1XP_054188987.1  MARVEL domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A1BQX0, A1BQX1, A8KA97, Q8N4S9, Q96NM9
      UniProtKB/TrEMBL
      D6RA09

    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_054329490.1XP_054185465.1  MARVEL domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JN23
    2. XM_054329492.1XP_054185467.1  MARVEL domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JN23
    3. XM_054329491.1XP_054185466.1  MARVEL domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JN23
    4. XM_054329493.1XP_054185468.1  MARVEL domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JN23

    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_054351799.1XP_054207774.1  MARVEL domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JN23
    2. XM_054351802.1XP_054207777.1  MARVEL domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JN23
    3. XM_054351801.1XP_054207776.1  MARVEL domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JN23
    4. XM_054351800.1XP_054207775.1  MARVEL domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JN23

    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.