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Marveld2
Gene Detail
Symbol

Name
ID
Marveld2
MARVEL (membrane-associating) domain containing 2
MGI:2446166
Synonyms
MGC:55067, Mrvldc2, Tric, Tric-a, Tric-b, Tric-c, Tricellulin
Feature Type
protein coding gene
Genetic Map
Chromosome 13
53.23 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr13:100595957-100616971 bp, - strand
From NCBI annotation of GRCm38

  21015 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:27037  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: MARVELD2
Gene Tree: Marveld2

Human
homologs
MARVELD2, MARVEL domain containing 2
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 153562
neXtProt AC: NX_Q8N4S9

Human Synonyms: DFNB49, MARVD2, MRVLDC2, Tric

Human Chr (Location): 5q13.2; chr5:69415112-69442063 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MARVELD2

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from APF )
 
Mice homozygous for a knock-in mutation fisplay syndromic deafness with rapid progressive degeneration of the hair cells, increased body and organ weights and abnormal tricellular tight junctions. However, vestibular function is intact.
 
Human Diseases Modeled in Mice Using Marveld2 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Marveld2 interacts with 174 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process bicellular tight junction assembly, cell-cell junction organization, ...
Component apical plasma membrane, basolateral plasma membrane, ...
Function molecular_function
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (102)    Tissues (13)    Images (32)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 102
cDNA source data(33)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase marveld2    NEW 
Molecular
reagents
All nucleic(33) cDNA(33)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000021636 (Evidence)
Entrez Gene 218518 (Evidence)
UniGene 25300
DFCI TC1579591
DoTS DT.488609, DT.94233947, DT.101297231
NIA Mouse Gene Index U035111
Consensus CDS Project CCDS26732.1, CCDS49345.1
International Mouse Phenotyping Consortium Status Marveld2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 218518 NCBI Gene Model | MGI Sequence Detail 21015 C57BL/6J ±  kb
transcript NM_001038602 RefSeq | MGI Sequence Detail 3061 C57BL/6 
polypeptide Q3UZP0 UniProt | EBI | MGI Sequence Detail 555 Not Applicable 

For the selected sequences
All sequences(38) RefSeq(6) UniProt(7)
Polymorphisms
SNPs within 2kb(162 from dbSNP Build 137)    SNPs within 2kb including multiple locations(164)
Protein-related
information
ResourceIDDescription
InterPro IPR008253 Marvel
InterPro IPR010844 Occludin/RNA polymerase II elongation factor, ELL domain
Protein Ontology PR:000010192 MARVEL domain-containing protein 2
Graphical View of Protein Domain Structure
References
(Earliest) J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
(Latest) J:201580 Nayak G, et al., Tricellulin deficiency affects tight junction architecture and cochlear hair cells. J Clin Invest. 2013 Sep 3;123(9):4036-49
All references(34)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory