• Gene id: 255520

Gene Summary

• Gene Symbol: ELMOD2   Gene   UCSC   Ensembl
• Aliases: 9830169G11Rik
• Gene name: ELMO domain containing 2
• Alternate names: ELMO domain-containing protein 2, ELMO/CED-12 domain containing 2,
• Gene location: 4q31.1 (140524145: 140553769)     Exons: 12     NC_000004.12
• Gene summary(Entrez): This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by
• OMIM: 610196

Protein Summary

• Protein general information: Q8IZ81  
  • Name: ELMO domain containing protein 2
  • Length: 293  
  • Mass: 34961
  • Tissue specificity: Alveolar cells (morphologically type II cells) and alveolar macrophages (at protein level). Expressed in brain, colon, heart, kidney, liver, lung, muscle, placenta, small intestine, spleen, stomach and testis. In lung it is expressed i
• Sequence:

  MFISLWEFFYGHFFRFWMKWLLRQMTGKCELQRIFDTYVGAQRTHRIENSLTYSKNKVLQKATHVVQSEVDKYVD
  DIMKEKNINPEKDASFKICMKMCLLQITGYKQLYLDVESVRKRPYDSDNLQHEELLMKLWNLLMPTKKLNARISK
  QWAEIGFQGDDPKTDFRGMGILGLINLVYFSENYTSEAHQILSRSNHPKLGYSYAIVGINLTEMAYSLLKSEALK
  FHLYNLVPGIPTMEHFHQFYCYLVYEFDKFWFEEEPESIMYFNLYREKFHEKIKGLLLDCNVALTLKV

• Structural information:
  • Protein Domains: (126..28-)
    (/note="ELMO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00664"-)
  • Interpro: IPR006816  IPR030724  
  • Prosite: PS51335
  • STRING: ENSP00000326342
• Other Databases: GeneCards:  ELMOD2  Malacards:  ELMOD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0050688	regulation of defense response to virus	IDA	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0051607	defense response to virus	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0016020	membrane	HDA	cellular component

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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881