Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID	55780
Gene name	ER membrane associated RNA degradation
Gene symbol	ERMARD
Synonyms (NCBI Gene)	C6orf70PVNH6dJ266L20.3
Chromosome	6
Chromosome location	6q27
Summary	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

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74451194	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs143351214	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs151283330	A>G	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs398122410	T>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant

Show/Hide all (5)

GO ID	Ontology	Definition	Evidence
GO:0003674	Function	Molecular_function	ND
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0008150	Process	Biological_process	ND
GO:0016020	Component	Membrane	IEA

MIM	HGNC	e!Ensembl
615532	21056	ENSG00000130023

Q5T6L9

Protein name

Endoplasmic reticulum membrane-associated RNA degradation protein (ER membrane-associated RNA degradation protein)

Protein function

May play a role in neuronal migration during embryonic development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13910	DUF4209	133 → 214	Domain of unknown function (DUF4209)	Domain

Sequence

MEVLIGDPITTCLSPSVYDIICNLGFQLRENCDINSIVTQNGEVCWKTITDCVSYTESEQ
GLDYWGSVRLLGPVCEAVHSHFLSLTKGQFEIRYAPWFQWTSFPELFPEIFDALESLQSP
AISLSLMKLTSCLERALGDVFLLIGKECPFLLRDLLSSEELAQVFSQSVMNVLKVFVGSP
CGLNLRNVLWHGFASPEEIPPKYCSMMILLTAGLGQLLKSYLQNTKLTLAHRSFISLTNL
EDLIVFPDVTYEVLSVLEEVMMKSAFILKIMLPYWEVALVKFKSHRFADCAILLLTQLET
GLRNVFATLNRCPKRLLTAESTALYTTFDQILAKHLNDGKINQLPLFLGEPAMEFLWDFL
NHQEGPRIRDHLSHGEINLHEFSKETTNQLLAFSLVLLLRFVDDCLLSVFKEKSAVELLI
SLAEGYSSRCHPVFQLKKQVLSCEESIRVWALLPFPEELTRQAVRLEDNSETNACHSLIT
KMTDELYHHMPENRCVLKDLDRLPTETWPQLLRELCSTPVPTLFCPRIVLEVLVVLRSIS
EQCRRVSSQVTVASELRHRQWVERTLRSRQRQNYLRMWSSIRLLSPVLSLILLLIALELV
NIHAVCGKNAHEYQQYLKFVKSILQYTENLVAYTSYEKNKWNETINLTHTALLKMWTFSE
KKQMLIHLAKKSTSKVLL

Sequence length

678

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Periventricular nodular heterotopia 6	Likely pathogenic; Pathogenic	rs2128365099, rs2128344292, rs762266071, rs1793536857, rs398122410	RCV001775288 RCV002266501 RCV003126311 RCV003991986 RCV000074458

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ERMARD-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs760535940, rs139763023, rs768502290, rs555583101, rs1407755819, rs527584203, rs568136827, rs781086812, rs765837818, rs768520209, rs776104892, rs151283330, rs148450358, rs149649895, rs144899015 View all (13 more)	RCV003893222 RCV003953826 RCV003896236 RCV003916582 RCV003420810 RCV003909174 RCV003921453 RCV003899642 RCV003961645 RCV003971879 RCV004750955 RCV003972565 RCV003912703 RCV003970183 RCV003912704 RCV003902587 RCV003970143 RCV003912677 RCV003970165 RCV003960163 RCV003942681 RCV003935652 RCV004751633 RCV003948028 RCV003962867 RCV003950677 RCV003975724 RCV003903035
See cases	Uncertain significance	rs367621676, rs1791310307	RCV001801234 RCV002252480

ERMARD (ER membrane associated RNA degradation)