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Marveld2 Gene Detail
Summary
  • Symbol
    Marveld2
  • Name
    MARVEL (membrane-associating) domain containing 2
  • Synonyms
    MGC:55067, Mrvldc2, Tric, Tric-a, Tric-b, Tric-c, Tricellulin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2446166
    NCBI Gene: 218518
  • Gene Overview
    MyGene.info: MARVELD2
Location & Maps
more
  • Sequence Map
    Chr13:100595957-100616971 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      21015 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 53.23 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    MARVELD2, MARVEL domain containing 2
  • Vertebrate Orthologs
    11
  • Human Ortholog
    MARVELD2, MARVEL domain containing 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DFNB49, MARVD2, MRVLDC2, Tric
  • Links
    NCBI Gene ID: 153562
    neXtProt AC: NX_Q8N4S9

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

Human Diseases
more
  • Diseases
    1 with Marveld2 mouse models; 1 with human MARVELD2 associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 49; DFNB49   OMIM: 610153 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    6 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Targeted
    4
  • Incidental Mutations
    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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    160 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 33
    cDNA 33

    Microarray probesets 2
References
more
  • Summaries
    All 31
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 8
    Phenotypes 6
  • 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

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
09/20/2016
MGI 6.05
The Jackson Laboratory