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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:100732465-100753479 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 53.23 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    160 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2446166
 protein coding gene Chr13:100732465-100753479 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020887
 protein coding gene Chr13:102516168-102537821 (-)
A/J MGP_AJ_G0020839
 protein coding gene Chr13:98535315-98557002 (-)
AKR/J MGP_AKRJ_G0020814
 protein coding gene Chr13:101560332-101582963 (-)
BALB/cJ MGP_BALBcJ_G0020838
 protein coding gene Chr13:99262024-99284739 (-)
C3H/HeJ MGP_C3HHeJ_G0020628
 protein coding gene Chr13:101267694-101289021 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021272
 protein coding gene Chr13:105566232-105595199 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018843
 protein coding gene Chr13:94363235-94383968 (-)
CAST/EiJ MGP_CASTEiJ_G0020147
 protein coding gene Chr13:100729323-100754370 (-)
CBA/J MGP_CBAJ_G0020589
 protein coding gene Chr13:109735170-109756305 (-)
DBA/2J MGP_DBA2J_G0020714
 protein coding gene Chr13:98317368-98338524 (-)
FVB/NJ MGP_FVBNJ_G0020695
 protein coding gene Chr13:97055666-97076702 (-)
LP/J MGP_LPJ_G0020788
 protein coding gene Chr13:102533627-102555782 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020724
 protein coding gene Chr13:109983712-110006446 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021312
 protein coding gene Chr13:101013777-101042424 (-)
PWK/PhJ MGP_PWKPhJ_G0019900
 protein coding gene Chr13:97031818-97053717 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019722
 protein coding gene Chr13:97240494-97269588 (-)
WSB/EiJ MGP_WSBEiJ_G0020204
 protein coding gene Chr13:101476065-101499145 (-)



Homology
more
  • Human Ortholog
    MARVELD2, MARVEL domain containing 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MARVELD2, MARVEL domain containing 2
  • Synonyms
    DFNB49, MARVD2, MRVLDC2, Tric
  • Links
    NCBI Gene ID: 153562
    neXtProt AC: NX_Q8N4S9
    UniProt: Q8N4S9

  • Chr Location
    5q13.2; chr5:69415065-69444330 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Marveld2 mouse models; 1 with human MARVELD2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 3 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    4 images
    9 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.
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
less
  • All GO Annotations
    30
  • GO References
    11
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    853
  • Tissues
    48
  • cDNA Data
    34
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      cDNA 34
      Primer pair 1
      Other 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 6
      Diseases 2
      Gene Ontology 11
      Phenotypes 9
    • 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:327957 Kim YS, et al., Rap1 controls epiblast morphogenesis in sync with the pluripotency states transition. Dev Cell. 2022 Aug 22;57(16):1937-1956.e8
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory