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Aliases for MARVELD2 Gene

Aliases for MARVELD2 Gene

  • MARVEL Domain Containing 2 2 3
  • Tricellulin 2 3 4
  • Tric 3 4 6
  • MARVEL (Membrane-Associating) Domain Containing 2 2 3
  • MARVD2 3 6
  • DFNB49 3 6
  • MARVEL Domain-Containing Protein 2 3
  • Deafness, Autosomal Recessive 49 2
  • MRVLDC2 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

Genomic Location for MARVELD2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys87 and Lys175
  • Modification sites at PhosphoSitePlus

Other Protein References for MARVELD2 Gene

Antibody Products

No data available for DME Specific Peptides for MARVELD2 Gene

Domains 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 :
  • Q8N4S9
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.

Gene Ontology (GO) - Molecular Function for MARVELD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20164257
genes like me logo Genes that share ontologies with MARVELD2: view
genes like me logo Genes that share phenotypes with MARVELD2: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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

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:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IDA 23073616
genes like me logo Genes that share ontologies with MARVELD2: view

Pathways 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:0007605 sensory perception of sound IMP 17186462
GO:0045216 cell-cell junction organization IMP 20164257
GO:0061028 establishment of endothelial barrier IMP 23073616
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 for MARVELD2 Gene

Transcripts for MARVELD2 Gene

Unigene Clusters for MARVELD2 Gene

MARVEL domain containing 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MARVELD2

Primer Products

Flow Cytometry Products

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 (5.4), Thyroid (4.9), and Pancreas (4.3).

Integrated Proteomics: protein expression 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 expressions with MARVELD2: view

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 35
  • 87.4 (n)
  • 88.99 (a)
MARVELD2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MARVELD2 35
  • 76.33 (n)
  • 77.17 (a)
MARVELD2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Marveld2 35
  • 85.18 (n)
  • 88.38 (a)
Marveld2 16
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 35
  • 63.85 (n)
  • 62.27 (a)
marveld2a 36
  • 57 (a)
OneToMany
marveld2b 36
  • 55 (a)
OneToMany
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

Selected 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 MAF
rs299072 -- 69,434,407(-) ATCAC(A/T)GCTCA intron-variant
rs299073 -- 69,433,855(-) GAATT(A/G)TCATC intron-variant
rs299074 -- 69,433,585(-) CTACT(C/T)GGGAG intron-variant
rs299075 -- 69,432,717(-) GGGCC(C/T)CTCAA intron-variant
rs299076 -- 69,431,264(-) agtgg(C/T)gggcg 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

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

(1) OMIM Diseases for MARVELD2 Gene (610572)

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.

(2) University of Copenhagen DISEASES for MARVELD2 Gene

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

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
  2. Tricellulin constitutes a novel barrier at tricellular contacts of epithelial cells. (PMID: 16365161) Ikenouchi J. … Tsukita S. (J. Cell Biol. 2005) 3 4 23
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. (PMID: 18084694) Chishti M.S. … Ahmad W. (J. Hum. Genet. 2008) 3 23

Products for MARVELD2 Gene

  • antibodies-online peptides for MARVELD2
  • antibodies-online antibodies for MARVELD2
  • antibodies-online kits for MARVELD2

Sources for MARVELD2 Gene

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