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Aliases for MARVELD2 Gene

Aliases for MARVELD2 Gene

  • MARVEL Domain Containing 2 2 3 5
  • Tricellulin 2 3 4
  • MARVEL (Membrane-Associating) Domain Containing 2 2 3
  • Tric 3 4
  • Deafness, Autosomal Recessive 49 2
  • MRVLDC2 3
  • MARVD2 3
  • DFNB49 3

External Ids for MARVELD2 Gene

Previous HGNC Symbols for MARVELD2 Gene

  • MRVLDC2
  • DFNB49

Previous GeneCards Identifiers for MARVELD2 Gene

  • GC05P068746
  • GC05P065667

Summaries for MARVELD2 Gene

Entrez Gene Summary for MARVELD2 Gene

  • 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]

GeneCards Summary for MARVELD2 Gene

MARVELD2 (MARVEL Domain Containing 2) is a Protein Coding gene. Diseases associated with MARVELD2 include deafness, autosomal recessive 49 and dfnb49 nonsyndromic hearing loss and deafness. An important paralog of this gene is ELL3.

UniProtKB/Swiss-Prot for MARVELD2 Gene

  • Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing.

Gene Wiki entry for MARVELD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MARVELD2 Gene

Genomics for MARVELD2 Gene

Regulatory Elements for MARVELD2 Gene

Promoters for MARVELD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MARVELD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MARVELD2 Gene

Chromosome:
5
Start:
69,415,112 bp from pter
End:
69,444,330 bp from pter
Size:
29,219 bases
Orientation:
Plus strand

Genomic View for MARVELD2 Gene

Genes around MARVELD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARVELD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARVELD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MARVELD2 Gene

Proteins for MARVELD2 Gene

  • Protein details for MARVELD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4S9-MALD2_HUMAN
    Recommended name:
    MARVEL domain-containing protein 2
    Protein Accession:
    Q8N4S9
    Secondary Accessions:
    • A1BQX0
    • A1BQX1
    • A8KA97
    • Q96NM9

    Protein attributes for MARVELD2 Gene

    Size:
    558 amino acids
    Molecular mass:
    64168 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MARVELD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MARVELD2 Gene

Proteomics data for MARVELD2 Gene at MOPED

Post-translational modifications for MARVELD2 Gene

  • Ubiquitination at Lys 87
  • Modification sites at PhosphoSitePlus

Other Protein References for MARVELD2 Gene

Antibody Products

No data available for DME Specific Peptides for MARVELD2 Gene

Domains & Families for MARVELD2 Gene

Protein Domains for MARVELD2 Gene

Suggested Antigen Peptide Sequences for MARVELD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N4S9

UniProtKB/Swiss-Prot:

MALD2_HUMAN :
  • Contains 1 MARVEL domain.
Domain:
  • Contains 1 MARVEL domain.
genes like me logo Genes that share domains with MARVELD2: view

No data available for Gene Families for MARVELD2 Gene

Function for MARVELD2 Gene

Molecular function for MARVELD2 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing.
genes like me logo Genes that share phenotypes with MARVELD2: view

Human Phenotype Ontology for MARVELD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MARVELD2 Gene

MGI Knock Outs for MARVELD2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for MARVELD2 Gene

Localization for MARVELD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARVELD2 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, tight junction. Note=Found at tricellular contacts. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MARVELD2 Gene COMPARTMENTS Subcellular localization image for MARVELD2 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for MARVELD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23073616
GO:0005923 bicellular tight junction IDA 20164257
GO:0016323 basolateral plasma membrane IDA 23073616
GO:0016324 apical plasma membrane IDA 23073616
GO:0043220 Schmidt-Lanterman incisure IEA --
genes like me logo Genes that share ontologies with MARVELD2: view

Pathways & Interactions for MARVELD2 Gene

SuperPathways for MARVELD2 Gene

No Data Available

Interacting Proteins for MARVELD2 Gene

Gene Ontology (GO) - Biological Process for MARVELD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070830 bicellular tight junction assembly IMP 20164257
genes like me logo Genes that share ontologies with MARVELD2: view

No data available for Pathways by source and SIGNOR curated interactions for MARVELD2 Gene

Drugs & Compounds for MARVELD2 Gene

No Compound Related Data Available

Transcripts for MARVELD2 Gene

Unigene Clusters for MARVELD2 Gene

MARVEL domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MARVELD2 Gene

No ASD Table

Relevant External Links for MARVELD2 Gene

GeneLoc Exon Structure for
MARVELD2
ECgene alternative splicing isoforms for
MARVELD2

Expression for MARVELD2 Gene

mRNA expression in normal human tissues for MARVELD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MARVELD2 Gene

This gene is overexpressed in Liver (x5.4), Thyroid (x4.9), and Pancreas (x4.3).

Protein differential expression in normal tissues from HIPED for MARVELD2 Gene

This gene is overexpressed in Liver, secretome (54.8) and Frontal cortex (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MARVELD2 Gene



SOURCE GeneReport for Unigene cluster for MARVELD2 Gene Hs.657687

genes like me logo Genes that share expression patterns with MARVELD2: view

Protein tissue co-expression partners for MARVELD2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MARVELD2 Gene

Orthologs for MARVELD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MARVELD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MARVELD2 35
  • 99.52 (n)
  • 99.28 (a)
MARVELD2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MARVELD2 36
  • 89 (a)
OneToOne
MARVELD2 35
  • 87.4 (n)
  • 88.99 (a)
dog
(Canis familiaris)
Mammalia MARVELD2 35
  • 76.33 (n)
  • 77.17 (a)
MARVELD2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Marveld2 16
Marveld2 35
  • 85.18 (n)
  • 88.38 (a)
Marveld2 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MARVELD2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MARVELD2 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Marveld2 35
  • 84.96 (n)
  • 88.45 (a)
chicken
(Gallus gallus)
Aves MARVELD2 35
  • 68.41 (n)
  • 68.55 (a)
MARVELD2 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia marveld2 35
  • 68.5 (n)
  • 68.68 (a)
Str.6880 35
zebrafish
(Danio rerio)
Actinopterygii marveld2a 36
  • 57 (a)
OneToMany
marveld2b 36
  • 55 (a)
OneToMany
marveld2a 35
  • 63.85 (n)
  • 62.27 (a)
fruit fly
(Drosophila melanogaster)
Insecta Su(Tpl) 36
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1855 36
  • 16 (a)
OneToMany
Species with no ortholog for MARVELD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MARVELD2 Gene

ENSEMBL:
Gene Tree for MARVELD2 (if available)
TreeFam:
Gene Tree for MARVELD2 (if available)

Paralogs for MARVELD2 Gene

Paralogs for MARVELD2 Gene

(1) SIMAP similar genes for MARVELD2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MARVELD2: view

Variants for MARVELD2 Gene

Sequence variations from dbSNP and Humsavar for MARVELD2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_047436 -
rs2583700 -- 69,436,454(+) acaca(C/T)aTATA intron-variant
rs67763488 -- 69,428,182(+) AGCAG(-/A)AAAAA intron-variant
rs57476159 -- 69,436,450(+) ACACA(-/CACATA)TATAT intron-variant
rs112521677 -- 69,436,452(+) ACACA(C/T)ATATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MARVELD2 Gene

Variant ID Type Subtype PubMed ID
nsv821643 CNV Loss 15273396
nsv881767 CNV Loss 21882294
nsv881768 CNV Loss 21882294
nsv428117 CNV Gain+Loss 18775914
esv2435100 CNV Deletion 19546169
esv2030621 CNV Deletion 18987734
esv9527 CNV Loss 19470904
esv2730289 CNV Deletion 23290073

Variation tolerance for MARVELD2 Gene

Residual Variation Intolerance Score: 77.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.85; 74.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MARVELD2 Gene

HapMap Linkage Disequilibrium report
MARVELD2
Human Gene Mutation Database (HGMD)
MARVELD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MARVELD2 Gene

Disorders for MARVELD2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for MARVELD2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 49
  • deafness, autosomal recessive, 49
dfnb49 nonsyndromic hearing loss and deafness
  • dfnb 49 nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal dominant 40
  • deafness, autosomal dominant, 40
deafness, autosomal recessive 76
  • deafness, autosomal recessive, 76
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MALD2_HUMAN
  • Deafness, autosomal recessive, 49 (DFNB49) [MIM:610153]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:17186462}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MARVELD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MARVELD2
genes like me logo Genes that share disorders with MARVELD2: view

No data available for Genatlas for MARVELD2 Gene

Publications for MARVELD2 Gene

  1. Tricellulin is a tight-junction protein necessary for hearing. (PMID: 17186462) Riazuddin S. … Friedman T.B. (Am. J. Hum. Genet. 2006) 2 3 4 23 67
  2. Tight junction-associated MARVEL proteins marveld3, tricellulin, and occludin have distinct but overlapping functions. (PMID: 20164257) Raleigh D.R. … Turner J.R. (Mol. Biol. Cell 2010) 3 23
  3. Tricellulin forms a barrier to macromolecules in tricellular tight junctions without affecting ion permeability. (PMID: 19535456) Krug S.M. … Fromm M. (Mol. Biol. Cell 2009) 3 23
  4. Differential phosphorylation of occludin and tricellulin by CK2 and CK1. (PMID: 19538290) DAPrfel M.J. … Huber O. (Ann. N. Y. Acad. Sci. 2009) 3 23
  5. Expression and localization of tricellulin in human nasal epithelial cells in vivo and in vitro. (PMID: 20033365) Ohkuni T. … Sawada N. (Med Mol Morphol 2009) 3 23

Products for MARVELD2 Gene

Sources for MARVELD2 Gene

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