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Gene : MARVELD2 Homo sapiens

Name  ? MARVEL domain containing 2 Cytological Location  5q13.2
Brief Description  MARVEL domain containing 2
Description  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]
  • synonyms:
  • FLJ30532,
  • Tric,
  • HGNC:26401,
  • TRIC,
  • MRVLDC2,
  • NM_144724,
  • MARVELD2,
  • uc003jwq.4,
  • tricellulin,
  • DFNB49,
  • AK055094,
  • DFNB49,
  • MRVLDC2,
  • deafness, autosomal recessive 49,
  • MARVEL (membrane-associating) domain containing 2,
  • MARVD2,
  • OTTHUMG00000162512
  • identifiers:
  • 153562,
  • ENSG00000152939,
  • MARVELD2

Genome feature

Region: gene ? Length: 29215  
Location: 5:69415116-69444330 Cyto location: 5q13.2


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

498 SN Ps

5 Cross References

17 Data Sets

11 Homologues

0 Located Features

97 Rna Seq Results