ERMARD (ER membrane associated RNA degradation)

Gene

• Entrez ID: 55780
• Gene name: ER membrane associated RNA degradation
• Gene symbol: ERMARD
• Synonyms (NCBI Gene): C6orf70, PVNH6, dJ266L20.3
• 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

SNPs

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
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

Other IDs

• MIM: 615532
• HGNC: 21056
• e!Ensembl: ENSG00000130023

Protein

• UniProt ID: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Periventricular nodular heterotopia 6	Likely pathogenic; Pathogenic	rs2128365099, rs2128344292, rs762266071, rs1793536857, rs398122410	RCV001775288 RCV002266501 RCV003126311 RCV003991986 RCV000074458	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ERMARD-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIVENTRICULAR HETEROTOPIA, X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIVENTRICULAR NODULAR HETEROTOPIA	—	CTD, ClinGen, Disgenet, GWAS catalog, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
6q terminal deletion syndrome	6q terminal deletion syndrome	BEFREE	24056535		★☆☆☆☆ Found in Text Mining only
6q terminal deletion syndrome	6q terminal deletion syndrome	ORPHANET_DG	24056535		★☆☆☆☆ Found in Text Mining only
6q terminal deletion syndrome	6q terminal deletion syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral Periventricular Nodular Heterotopia	Periventricular heterotopia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24056535		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periventricular Heterotopia, X-Linked	Periventricular Heterotopia, X-Linked	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	24056535, 29286390		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	ORPHANET_DG	24056535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	GENOMICS_ENGLAND_DG	24056535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular nodular heterotopia	Periventricular Nodular Heterotopia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIVENTRICULAR NODULAR HETEROTOPIA 6	Periventricular Nodular Heterotopia	UNIPROT_DG	24056535		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PERIVENTRICULAR NODULAR HETEROTOPIA 6	Periventricular Nodular Heterotopia	GENOMICS_ENGLAND_DG	24056535		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PERIVENTRICULAR NODULAR HETEROTOPIA 6	Periventricular Nodular Heterotopia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only