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Aliases for ERMARD Gene

Aliases for ERMARD Gene

  • ER Membrane-Associated RNA Degradation 2 3 5
  • C6orf70 3 4
  • ER Membrane-Associated RNA Degradation Protein 4
  • Chromosome 6 Open Reading Frame 70 2
  • Transmembrane Protein C6orf70 3
  • DJ266L20.3 3
  • PVNH6 3

External Ids for ERMARD Gene

Previous HGNC Symbols for ERMARD Gene

  • C6orf70

Previous GeneCards Identifiers for ERMARD Gene

  • GC06P170152

Summaries for ERMARD Gene

Entrez Gene Summary for ERMARD 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 are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

GeneCards Summary for ERMARD Gene

ERMARD (ER Membrane-Associated RNA Degradation) is a Protein Coding gene. Diseases associated with ERMARD include Periventricular Nodular Heterotopia 6 and Periventricular Nodular Heterotopia.

UniProtKB/Swiss-Prot for ERMARD Gene

  • May play a role in neuronal migration during embryonic development.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERMARD Gene

Genomics for ERMARD Gene

Regulatory Elements for ERMARD Gene

Enhancers for ERMARD Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ERMARD on UCSC Golden Path with GeneCards custom track

Genomic Location for ERMARD Gene

169,751,622 bp from pter
169,781,584 bp from pter
29,963 bases
Plus strand

Genomic View for ERMARD Gene

Genes around ERMARD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERMARD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERMARD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERMARD Gene

Proteins for ERMARD Gene

  • Protein details for ERMARD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Endoplasmic reticulum membrane-associated RNA degradation protein
    Protein Accession:
    Secondary Accessions:
    • B4DFH0
    • F8WAF1
    • Q3ZCS8
    • Q5T6L8
    • Q9NUT5
    • Q9NVU2

    Protein attributes for ERMARD Gene

    678 amino acids
    Molecular mass:
    77788 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH44812.1; Type=Erroneous termination; Positions=679; Note=Translated as stop.; Evidence={ECO:0000305}; Sequence=BAA91653.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ERMARD Gene


neXtProt entry for ERMARD Gene

Proteomics data for ERMARD Gene at MOPED

Post-translational modifications for ERMARD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ERMARD Gene

Domains & Families for ERMARD Gene

Protein Domains for ERMARD Gene


Suggested Antigen Peptide Sequences for ERMARD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ERMARD: view

No data available for Gene Families and UniProtKB/Swiss-Prot for ERMARD Gene

Function for ERMARD Gene

Molecular function for ERMARD Gene

UniProtKB/Swiss-Prot Function:
May play a role in neuronal migration during embryonic development.

Phenotypes for ERMARD Gene

genes like me logo Genes that share phenotypes with ERMARD: view

Human Phenotype Ontology for ERMARD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ERMARD Gene

Localization for ERMARD Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERMARD Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for ERMARD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ERMARD: view

No data available for Subcellular locations from COMPARTMENTS for ERMARD Gene

Pathways & Interactions for ERMARD Gene

SuperPathways for ERMARD Gene

No Data Available

Interacting Proteins for ERMARD Gene

Gene Ontology (GO) - Biological Process for ERMARD Gene


No data available for Pathways by source and SIGNOR curated interactions for ERMARD Gene

Drugs & Compounds for ERMARD Gene

No Compound Related Data Available

Transcripts for ERMARD Gene

Alternative Splicing Database (ASD) splice patterns (SP) for ERMARD Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^
SP1: - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - -
SP5: - -
SP6: -
SP7: -
SP8: - -

ExUns: 20a · 20b

Relevant External Links for ERMARD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ERMARD Gene

mRNA expression in normal human tissues for ERMARD Gene

Protein differential expression in normal tissues from HIPED for ERMARD Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ERMARD Gene

genes like me logo Genes that share expression patterns with ERMARD: view

Protein tissue co-expression partners for ERMARD Gene

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ERMARD Gene

Orthologs for ERMARD Gene

This gene was present in the common ancestor of chordates.

Orthologs for ERMARD Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia C9H6orf70 35
  • 78.85 (n)
  • 73.52 (a)
  • 73 (a)
(Canis familiaris)
Mammalia C12H6orf70 35
  • 79.21 (n)
  • 75.26 (a)
  • 75 (a)
(Mus musculus)
Mammalia Ermard 35
  • 76.15 (n)
  • 70.26 (a)
Ermard 16
9030025P20Rik 36
  • 70 (a)
Ermard 36
  • 70 (a)
Gm3435 36
  • 70 (a)
(Pan troglodytes)
Mammalia C6H6orf70 35
  • 99.21 (n)
  • 98.23 (a)
C6ORF70 36
  • 98 (a)
(Rattus norvegicus)
Mammalia Ermard 35
  • 77.33 (n)
  • 71.56 (a)
(Monodelphis domestica)
Mammalia ERMARD 36
  • 65 (a)
(Ornithorhynchus anatinus)
Mammalia ERMARD 36
  • 63 (a)
(Gallus gallus)
Aves C3H6ORF70 35
  • 66.01 (n)
  • 60.12 (a)
  • 59 (a)
(Anolis carolinensis)
Reptilia ERMARD 36
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495616 35
  • 59.44 (n)
  • 51.85 (a)
Species with no ortholog for ERMARD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ERMARD Gene

Gene Tree for ERMARD (if available)
Gene Tree for ERMARD (if available)

Paralogs for ERMARD Gene

No data available for Paralogs for ERMARD Gene

Variants for ERMARD Gene

Sequence variations from dbSNP and Humsavar for ERMARD Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs4716346 - 169,776,552(+) GCATC(A/G)GCGAA intron-variant, nc-transcript-variant, reference, missense
VAR_070433 Periventricular nodular heterotopia 6 (PVNH6)
rs5881840 -- 169,758,147(+) TGAGG(-/G)AAGTT intron-variant
rs6459658 -- 169,755,235(+) ATATC(A/T)TGTGA intron-variant
rs6459659 -- 169,758,772(+) GATGA(A/G)TGAGT intron-variant

Variation tolerance for ERMARD Gene

Residual Variation Intolerance Score: 87.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.37; 70.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERMARD Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ERMARD Gene

Disorders for ERMARD Gene

MalaCards: The human disease database

(3) MalaCards diseases for ERMARD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
periventricular nodular heterotopia 6
  • pvnh6
periventricular nodular heterotopia
  • paroxysmal nocturnal hemoglobinuria
6q terminal deletion syndrome
- elite association - COSMIC cancer census association via MalaCards


  • Periventricular nodular heterotopia 6 (PVNH6) [MIM:615544]: A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy. {ECO:0000269 PubMed:24056535}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ERMARD

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ERMARD: view

No data available for Genatlas for ERMARD Gene

Publications for ERMARD Gene

  1. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. (PMID: 24056535) Conti V. … Guerrini R. (Brain 2013) 3 4 67
  2. Comprehensive analysis of the HEPN superfamily: identification of novel roles in intra-genomic conflicts, defense, pathogenesis and RNA processing. (PMID: 23768067) Anantharaman V. … Aravind L. (Biol. Direct 2013) 2 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  5. Expressed sequence tag analysis of human RPE/choroid for the NEIBank project: over 6000 non-redundant transcripts, novel genes and splice variants. (PMID: 12107410) Wistow G. … Peterson K. (Mol. Vis. 2002) 3

Products for ERMARD Gene

Sources for ERMARD Gene