Version 5.4
Homo sapiens Gene: MARVELD2
Summary
InnateDB Gene IDBG-26092.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MARVELD2
Gene Name MARVEL domain containing 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000152939
Encoded Proteins
IDBP-26096
MARVEL domain containing 2
IDBP-370246
MARVEL domain containing 2
IDBP-370252
MARVEL domain containing 2
IDBP-370257
MARVEL domain containing 2
IDBP-481063
MARVEL domain containing 2
IDBP-475971
MARVEL domain containing 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:69415112-69444330
Strand Forward strand
Band q13.2
Transcripts
ENST00000325631 ENSP00000323264
ENST00000413223 ENSP00000398922
ENST00000454295 ENSP00000396244
ENST00000436532 ENSP00000414776
ENST00000515844 ENSP00000421902
ENST00000512803 ENSP00000423490
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007605 sensory perception of sound
GO:0045216 cell-cell junction organization
GO:0061028 establishment of endothelial barrier
GO:0070830 tight junction assembly
Cellular Component
GO:0005737 cytoplasm
GO:0005923 tight junction
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0031410 cytoplasmic vesicle
GO:0033010 paranodal junction
GO:0043220 Schmidt-Lanterman incisure
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000021636
View Gene Order
ENSBTAG00000040001
Not yet available
Pathways
NETPATH
NetPath_4
EGFR1 pathway
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL D6RAH8
UniProt Splice Variant
Entrez Gene 153562
UniGene Hs.726520
RefSeq NM_001038603 NM_001244734 XM_005248445 XM_005248446 XM_005248447
HUGO HGNC:26401
OMIM 610572
CCDS CCDS34175 CCDS58956
HPRD 11293
IMGT
EMBL AC145146
GenPept
RNA Seq Atlas 153562

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca