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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
  • MARVEL Domain-Containing Protein 2 3
  • Deafness, Autosomal Recessive 49 2
  • MRVLDC2 3
  • MARVD2 3
  • DFNB49 3
  • Tric 3
  • TRIC 4

External Ids for MARVELD2 Gene

Previous HGNC Symbols for MARVELD2 Gene

  • 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 Nonsyndromic Deafness. Among its related pathways are Tight junction. An important paralog of this gene is OCEL1.

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

Additional gene information for MARVELD2 Gene

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

Genomics for MARVELD2 Gene

GeneHancer (GH) Regulatory Elements for MARVELD2 Gene

Promoters and enhancers for MARVELD2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J069414 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 650.7 +0.8 819 3 CLOCK ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 GLIS2 ZNF213 MARVELD2 CCDC125 GC05M069454 RAD17
GH05J069489 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.7 +78.3 78327 8.8 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 NFYC OCLN ENSG00000198237 ENSG00000254701 MARVELD2 RNU6-724P SLC30A5 SMA4 CDK7 GUSBP3 ENSG00000179978
GH05J069449 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.3 +37.8 37793 6.2 HDAC1 ELF3 FOXA2 ARID4B RAD21 RARA YY1 FOS CREM MIXL1 OCLN CCDC125 RAD17 LOC101928924 MARVELD2 GTF2H2C ENSG00000250138 ENSG00000198237 SMN2 GC05M069454
GH05J069498 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.7 +86.5 86498 5.5 FEZF1 ZNF2 GLIS2 ZNF213 KLF7 FOS KLF13 SP3 SP5 YY2 LOC101928924 MARVELD2 RNU6-724P GUSBP3 OCLN GTF2H2C GC05P069473
GH05J069516 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.8 +104.2 104230 5.9 PKNOX1 FOXA2 ARNT NEUROD1 FEZF1 ZNF2 YY1 ZNF213 FOS KLF13 GTF2H2C ENSG00000198237 ENSG00000254701 GUSBP3 ENSG00000253333 CDH12P2 SLC30A5 RAD17 LOC728499 ENSG00000251158
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MARVELD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MARVELD2 gene promoter:
  • ARP-1
  • HFH-1
  • Nkx2-5
  • IRF-7A
  • FOXD1

Genomic Locations for MARVELD2 Gene

Genomic Locations for MARVELD2 Gene
29,266 bases
Plus strand
29,219 bases
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:
    Recommended name:
    MARVEL domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • A1BQX0
    • A1BQX1
    • A8KA97
    • Q96NM9

    Protein attributes for MARVELD2 Gene

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

    Three dimensional structures from OCA and Proteopedia for MARVELD2 Gene

    Alternative splice isoforms for MARVELD2 Gene


neXtProt entry for MARVELD2 Gene

Post-translational modifications for MARVELD2 Gene

  • Ubiquitination at isoforms=2, 387
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MARVELD2 Gene

Domains & Families for MARVELD2 Gene

Gene Families for MARVELD2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

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

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

No data available for UniProtKB/Swiss-Prot 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

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MARVELD2 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MARVELD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 23073616
GO:0005886 plasma membrane IEA --
GO:0005923 bicellular tight junction IEA,IDA 20164257
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MARVELD2: view

Pathways & Interactions for MARVELD2 Gene

SuperPathways for MARVELD2 Gene

SuperPathway Contained pathways
1 Tight junction
genes like me logo Genes that share pathways with MARVELD2: view

Pathways by source for MARVELD2 Gene

1 KEGG pathway for MARVELD2 Gene

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 IEA,IMP 17186462
GO:0045216 cell-cell junction organization IEA,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 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:

Clone Products

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

No ASD Table

Relevant External Links for MARVELD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MARVELD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MARVELD2 Gene

Protein tissue co-expression partners for MARVELD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MARVELD2 Gene:


SOURCE GeneReport for Unigene cluster for MARVELD2 Gene:


Evidence on tissue expression from TISSUES for MARVELD2 Gene

  • Lung(4.3)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MARVELD2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with MARVELD2: view

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
(Pan troglodytes)
Mammalia MARVELD2 34 33
  • 99.52 (n)
(Bos Taurus)
Mammalia MARVELD2 34 33
  • 87.4 (n)
(Mus musculus)
Mammalia Marveld2 16 34 33
  • 85.18 (n)
(Rattus norvegicus)
Mammalia Marveld2 33
  • 84.96 (n)
(Monodelphis domestica)
Mammalia MARVELD2 34
  • 80 (a)
(Canis familiaris)
Mammalia MARVELD2 34 33
  • 76.33 (n)
(Ornithorhynchus anatinus)
Mammalia MARVELD2 34
  • 76 (a)
(Gallus gallus)
Aves MARVELD2 34 33
  • 68.41 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia marveld2 33
  • 68.5 (n)
Str.6880 33
(Danio rerio)
Actinopterygii marveld2a 34 33
  • 63.85 (n)
marveld2b 34
  • 55 (a)
fruit fly
(Drosophila melanogaster)
Insecta Su(Tpl) 34
  • 8 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1855 34
  • 16 (a)
Species where no ortholog for MARVELD2 was found in the sources mined by GeneCards:
  • 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

Gene Tree for MARVELD2 (if available)
Gene Tree for MARVELD2 (if available)
Evolutionary constrained regions (ECRs) for MARVELD2: view image

Paralogs for MARVELD2 Gene

Paralogs for MARVELD2 Gene

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

  • D6RA09_HUMAN
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 Variation AA Info Type
rs1000057566 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 69,441,864(+) A/G 3_prime_UTR_variant
rs1045220767 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 69,441,775(+) C/T 3_prime_UTR_variant
rs115738510 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 69,420,113(+) A/G coding_sequence_variant, missense_variant
rs118203957 pathogenic, Deafness, neurosensory, autosomal recessive 49, Nonsyndromic hearing loss and deafness, not provided 69,433,088(+) C/G/T coding_sequence_variant, missense_variant, stop_gained
rs1185246 benign, likely-benign, not specified, Nonsyndromic Hearing Loss, Recessive 69,419,483(+) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv359e215 CNV deletion 23714750
esv2030621 CNV deletion 18987734
esv2435100 CNV deletion 19546169
esv2730289 CNV deletion 23290073
esv9527 CNV loss 19470904
nsv428117 CNV gain+loss 18775914
nsv821643 CNV loss 15273396

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)

Additional Variant Information for MARVELD2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for MARVELD2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MARVELD2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 49
  • dfnb49
nonsyndromic deafness
  • nonsyndromic hearing loss
non-syndromic genetic deafness
  • isolated genetic deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal recessive 42
  • dfnb42
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Additional Disease Information for 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 TB (American journal of human genetics 2006) 2 3 4 22 58
  2. Tricellulin constitutes a novel barrier at tricellular contacts of epithelial cells. (PMID: 16365161) Ikenouchi J … Tsukita S (The Journal of cell biology 2005) 3 4 22 58
  3. Tight junction-associated MARVEL proteins marveld3, tricellulin, and occludin have distinct but overlapping functions. (PMID: 20164257) Raleigh DR … Turner JR (Molecular biology of the cell 2010) 3 22 58
  4. Tricellulin forms a barrier to macromolecules in tricellular tight junctions without affecting ion permeability. (PMID: 19535456) Krug SM … Fromm M (Molecular biology of the cell 2009) 3 22 58
  5. Differential phosphorylation of occludin and tricellulin by CK2 and CK1. (PMID: 19538290) Dörfel MJ … Huber O (Annals of the New York Academy of Sciences 2009) 3 22 58

Products for MARVELD2 Gene

Sources for MARVELD2 Gene

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