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
MARVEL domain containing 2
MARVEL domain containing 2
MARVEL domain containing 2
MARVEL domain containing 2
MARVEL domain containing 2
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
EGFR1 pathway
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q8N4S9
TrEMBL D6RA09 D6RAH8
UniProt Splice Variant
Entrez Gene 153562
UniGene Hs.726520
RefSeq NM_001038603 XM_005248445 XM_005248446 NM_001244734 XM_005248447
HUGO HGNC:26401
OMIM 610572
CCDS CCDS34175 CCDS58956
HPRD 11293
IMGT
EMBL AB219936 AB219937 AC145146 AK055094 AK292962 BC033689 CH471137 DQ682656 DQ682657
GenPept AAH33689 ABG89104 ABG89105 BAB70853 BAE54513 BAE54514 BAF85651 EAW51277
RNA Seq Atlas 153562