• Gene id: 91862

Gene Summary

• Gene Symbol: MARVELD3   Gene   UCSC   Ensembl
• Aliases: MARVD3, MRVLDC3
• Gene name: MARVEL domain containing 3
• Alternate names: MARVEL domain-containing protein 3, MARVEL (membrane-associating) domain containing 3,
• Gene location: 16q22.2 (71626179: 71641964)     Exons: 5     NC_000016.10
• OMIM: 614094

Protein Summary

• Protein general information: Q96A59  
  • Name: MARVEL domain containing protein 3
  • Length: 401  
  • Mass: 44911
• Sequence:

  MEDPSGAREPRARPRERDPGRRPHPDQGRTHDRPRDRPGDPRRKRSSDGNRRRDGDRDPERDQERDGNRDRNRDR
  ERERERERDPDRGPRRDTHRDAGPRAGEHGVWEKPRQSRTRDGARGLTWDAAAPPGPAPWEAPEPPQPQRKGDPG
  RRRPESEPPSERYLPSTPRPGREEVEYYQSEAEGLLECHKCKYLCTGRACCQMLEVLLNLLILACSSVSYSSTGG
  YTGITSLGGIYYYQFGGAYSGFDGADGEKAQQLDVQFYQLKLPMVTVAMACSGALTALCCLFVAMGVLRVPWHCP
  LLLVTEGLLDMLIAGGYIPALYFYFHYLSAAYGSPVCKERQALYQSKGYSGFGCSFHGADIGAGIFAALGIVVFA
  LGAVLAIKGYRKVRKLKEKPAEMFEF

• Structural information:
  • Protein Domains: (193..38-)
    (/note="MARVEL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00581"-)
  • Interpro: IPR008253  
  • Prosite: PS51225
• Other Databases: GeneCards:  MARVELD3  Malacards:  MARVELD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005923	bicellular tight junction	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0010633	negative regulation of epithelial cell migration	IBA	biological process
GO:0070830	bicellular tight junction assembly	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0031435	mitogen-activated protein kinase kinase kinase binding	IDA	molecular function
GO:0050680	negative regulation of epithelial cell proliferation	IMP	biological process
GO:0045216	cell-cell junction organization	IMP	biological process
GO:1902414	protein localization to cell junction	IMP	biological process
GO:0046329	negative regulation of JNK cascade	IMP	biological process
GO:0010633	negative regulation of epithelial cell migration	IMP	biological process
GO:0006970	response to osmotic stress	IMP	biological process
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0070830	bicellular tight junction assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881