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... See more...

Aliases for ERMARD Gene

Aliases for ERMARD Gene

  • ER Membrane Associated RNA Degradation 2 3 5
  • Endoplasmic Reticulum Membrane-Associated RNA Degradation Protein 3 4
  • DJ266L20.3 2 3
  • C6orf70 3 4
  • ER Membrane-Associated RNA Degradation Protein 4
  • Chromosome 6 Open Reading Frame 70 2
  • Transmembrane Protein C6orf70 3
  • FLJ11152 2
  • ERMARD 5
  • 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 Summary for ERMARD Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERMARD Gene

Genomics for ERMARD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ERMARD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERMARD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERMARD

Genomic Locations for ERMARD Gene

Genomic Locations for ERMARD Gene
chr6:169,751,622-169,781,600
(GRCh38/hg38)
Size:
29,979 bases
Orientation:
Plus strand
chr6:170,151,718-170,181,680
(GRCh37/hg19)
Size:
29,963 bases
Orientation:
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:
    Q5T6L9-EMARD_HUMAN
    Recommended name:
    Endoplasmic reticulum membrane-associated RNA degradation protein
    Protein Accession:
    Q5T6L9
    Secondary Accessions:
    • B4DFH0
    • F8WAF1
    • Q3ZCS8
    • Q5T6L8
    • Q9NUT5
    • Q9NVU2

    Protein attributes for ERMARD Gene

    Size:
    678 amino acids
    Molecular mass:
    77788 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH44812.1; Type=Erroneous termination; Note=Extended C-terminus.; Evidence={ECO:0000305}; Sequence=BAA91653.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ERMARD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERMARD Gene

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

Gene Families for ERMARD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ERMARD Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ERMARD Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein C6orf70 (CF070_HUMAN)
genes like me logo Genes that share domains with ERMARD: view

No data available for Graphical View of Domain Structure 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 From GWAS Catalog for ERMARD Gene

Gene Ontology (GO) - Molecular Function for ERMARD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with ERMARD: view
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERMARD

No data available for Enzyme Numbers (IUBMB) , 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERMARD gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 3
cytosol 2
cytoskeleton 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ERMARD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ERMARD: view

Pathways & Interactions for ERMARD Gene

PathCards logo

SuperPathways for ERMARD Gene

No Data Available

Interacting Proteins for ERMARD Gene

Gene Ontology (GO) - Biological Process for ERMARD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with ERMARD: view

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

mRNA/cDNA for ERMARD Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERMARD

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: - -
SP9:

ExUns: 20a · 20b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ERMARD Gene

GeneLoc Exon Structure for
ERMARD

Expression for ERMARD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for ERMARD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERMARD

Evidence on tissue expression from TISSUES for ERMARD Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERMARD Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • skull
Thorax:
  • aorta
  • heart
  • heart valve
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ERMARD: view

Primer Products

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
Chimpanzee
(Pan troglodytes)
Mammalia C6H6orf70 30
  • 99.21 (n)
C6ORF70 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C12H6orf70 30
  • 79.21 (n)
ERMARD 31
  • 75 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C9H6orf70 30
  • 78.85 (n)
ERMARD 31
  • 73 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ermard 30
  • 77.33 (n)
Mouse
(Mus musculus)
Mammalia Ermard 30 17 31
  • 76.15 (n)
OneToMany
Gm3435 31
  • 70 (a)
OneToMany
9030025P20Rik 31
  • 70 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia ERMARD 31
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ERMARD 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C3H6ORF70 30
  • 66.01 (n)
ERMARD 31
  • 59 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ERMARD 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100495616 30
  • 59.44 (n)
Species where no ortholog for ERMARD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for ERMARD (if available)
TreeFam:
Gene Tree for ERMARD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERMARD: view image

Paralogs for ERMARD Gene

No data available for Paralogs for ERMARD Gene

Variants for ERMARD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERMARD Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
668133 Benign: not provided 169,773,059(+) A/G INTRON_VARIANT
668134 Benign: not provided 169,779,602(+) T/C INTRON_VARIANT
678368 Benign: not provided 169,776,523(+) T/C MISSENSE_VARIANT,INTRON_VARIANT
680094 Benign: not provided 169,756,883(+) A/G INTRON_VARIANT
680098 Likely Benign: not provided 169,766,576(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ERMARD Gene

Structural Variations from Database of Genomic Variants (DGV) for ERMARD Gene

Variant ID Type Subtype PubMed ID
esv2184238 CNV deletion 18987734
esv2574170 CNV deletion 19546169
esv2671331 CNV deletion 23128226
esv2674612 CNV deletion 23128226
esv2733521 CNV deletion 23290073
esv2733522 CNV deletion 23290073
nsv1032232 CNV loss 25217958
nsv1074451 CNV deletion 25765185
nsv1124152 CNV deletion 24896259
nsv1135972 CNV deletion 24896259
nsv605499 CNV gain 21841781
nsv949903 CNV deletion 24416366
nsv949904 CNV deletion 24416366

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)

Additional Variant Information for ERMARD Gene

Human Gene Mutation Database (HGMD)
ERMARD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERMARD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERMARD Gene

Disorders for ERMARD Gene

MalaCards: The human disease database

(7) MalaCards diseases for ERMARD Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
periventricular nodular heterotopia 6
  • pvnh6
periventricular nodular heterotopia
  • periventricular heterotopia
6q terminal deletion syndrome
anterior segment dysgenesis 3
  • iris hypoplasia with glaucoma
van maldergem syndrome
  • cerebrofacioarticular syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

EMARD_HUMAN
  • 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.
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 : a journal of neurology 2013) 3 4
  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 (Biology direct 2013) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3

Products for ERMARD Gene

Sources for ERMARD Gene