• Gene id: 55780

Gene Summary

• Gene Symbol: ERMARD   Gene   UCSC   Ensembl
• Aliases: C6orf70, PVNH6, dJ266L20.3
• Gene name: ER membrane associated RNA degradation
• Alternate names: endoplasmic reticulum membrane-associated RNA degradation protein, transmembrane protein C6orf70,
• Gene location: 6q27 (169751621: 169781599)     Exons: 21     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene
• OMIM: 615532

Protein Summary

• Protein general information: Q5T6L9  
  • Name: Endoplasmic reticulum membrane associated RNA degradation protein (ER membrane associated RNA degradation protein)
  • Length: 678  
  • Mass: 77788
• Sequence:

  MEVLIGDPITTCLSPSVYDIICNLGFQLRENCDINSIVTQNGEVCWKTITDCVSYTESEQGLDYWGSVRLLGPVC
  EAVHSHFLSLTKGQFEIRYAPWFQWTSFPELFPEIFDALESLQSPAISLSLMKLTSCLERALGDVFLLIGKECPF
  LLRDLLSSEELAQVFSQSVMNVLKVFVGSPCGLNLRNVLWHGFASPEEIPPKYCSMMILLTAGLGQLLKSYLQNT
  KLTLAHRSFISLTNLEDLIVFPDVTYEVLSVLEEVMMKSAFILKIMLPYWEVALVKFKSHRFADCAILLLTQLET
  GLRNVFATLNRCPKRLLTAESTALYTTFDQILAKHLNDGKINQLPLFLGEPAMEFLWDFLNHQEGPRIRDHLSHG
  EINLHEFSKETTNQLLAFSLVLLLRFVDDCLLSVFKEKSAVELLISLAEGYSSRCHPVFQLKKQVLSCEESIRVW
  ALLPFPEELTRQAVRLEDNSETNACHSLITKMTDELYHHMPENRCVLKDLDRLPTETWPQLLRELCSTPVPTLFC
  PRIVLEVLVVLRSISEQCRRVSSQVTVASELRHRQWVERTLRSRQRQNYLRMWSSIRLLSPVLSLILLLIALELV
  NIHAVCGKNAHEYQQYLKFVKSILQYTENLVAYTSYEKNKWNETINLTHTALLKMWTFSEKKQMLIHLAKKSTSK
  VLL

• Structural information:
  • Interpro: IPR025209  IPR039635  
  • STRING: ENSP00000355735
• Other Databases: GeneCards:  ERMARD  Malacards:  ERMARD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Periventricular nodular heterotopia	KEGG:H00270
Periventricular nodular heterotopia	KEGG:H00270
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq