ERMARD (ER membrane associated RNA degradation)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55780
Gene name Gene Name - the full gene name approved by the HGNC.
ER membrane associated RNA degradation
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERMARD
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf70, PVNH6, dJ266L20.3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PVNH6
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q27
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0007275 Process Multicellular organism development IEA
GO:0008150 Process Biological_process ND
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615532 21056 ENSG00000130023
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (11)
Causal
Disease term Disease name dbSNP ID References
Aortic aneurysm Aortic Aneurysm rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953
View all (29 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Mental retardation Mild Mental Retardation rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Periventricular Nodular Heterotopia periventricular nodular heterotopia GenCC