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

Gene ID: 153562, updated on 5-Mar-2019

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
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

Genomic context

See MARVELD2 in Genome Data Viewer
Location:
5q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (69415112..69444022)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (68710939..68738701)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit B9 pseudogene Neighboring gene adenylate kinase 6 Neighboring gene TATA-box binding protein associated factor 9 Neighboring gene RAD17 checkpoint clamp loader component 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30532

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-cell junction organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of endothelial barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Schmidt-Lanterman incisure IEA
Inferred from Electronic Annotation
more info
 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
paranodal junction IEA
Inferred from Electronic Annotation
more info
 
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)

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_017201.1 RefSeqGene

    Range
    5001..31952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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
    Q8N4S9
    Related
    ENSP00000323264.5, ENST00000325631.9
    Conserved Domains (2) summary
    pfam01284
    Location:185361
    MARVEL; Membrane-associating domain
    pfam07303
    Location:449547
    Occludin_ELL; Occludin homology domain
  2. NM_001244734.1NP_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/Swiss-Prot
    Q8N4S9
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    69415112..69444022
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248446.4XP_005248503.1  MARVEL domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005248503.1

    UniProtKB/Swiss-Prot
    Q8N4S9
    Conserved Domains (2) summary
    pfam01284
    Location:185361
    MARVEL; Membrane-associating domain
    pfam07303
    Location:449547
    Occludin_ELL; Occludin homology domain
  2. XM_005248447.4XP_005248504.1  MARVEL domain-containing protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005248504.1

    UniProtKB/Swiss-Prot
    Q8N4S9
    Conserved Domains (2) summary
    pfam01284
    Location:185361
    MARVEL; Membrane-associating domain
    pfam07303
    Location:437535
    Occludin_ELL; Occludin homology domain
  3. XM_005248445.4XP_005248502.1  MARVEL domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005248502.1

    UniProtKB/Swiss-Prot
    Q8N4S9
    Conserved Domains (2) summary
    pfam01284
    Location:185361
    MARVEL; Membrane-associating domain
    pfam07303
    Location:449547
    Occludin_ELL; Occludin homology domain

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    198535..225032
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
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