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Aliases for ERMARD Gene

Aliases for ERMARD Gene

  • ER Membrane Associated RNA Degradation 2 3 5
  • C6orf70 3 4
  • Endoplasmic Reticulum Membrane-Associated RNA Degradation Protein 3
  • 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.

Additional gene information for ERMARD Gene

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

Genomics for ERMARD Gene

GeneHancer (GH) Regulatory Elements for ERMARD Gene

Promoters and enhancers for ERMARD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I169750 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 555.5 +0.2 212 3.3 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ERMARD TCTE3 GC06M169749 WDR27 ENSG00000266896 PDCD2 TBP FAM120B PSMB1 ENSG00000236173
GH06I169721 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.8 -27.5 -27456 4.7 PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ENSG00000232640 ENSG00000227704 PHF10 ERMARD WDR27 C6orf120 ENSG00000266896 TCTE3 ENSG00000236173
GH06I170400 Enhancer 0.9 ENCODE 37.8 +648.8 648846 0.5 HDGF FOXA2 ARNT NEUROD1 YBX1 TCF12 ZNF207 ATF7 ZNF548 NCOA1 WDR27 TBP ENSG00000266896 FAM120B ERMARD PDCD2 TCTE3 ENSG00000272848 PHF10 ENSG00000232640
GH06I170551 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11 +802.0 802028 5 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC TBP PSMB1 PIR48716 ENSG00000266896 PDCD2 WDR27 FAM120B ERMARD
GH06I170305 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.6 +555.5 555508 3.4 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B FAM120B DLL1 WDR27 ENSG00000266896 ERMARD PSMB1 TBP MIR4644
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERMARD on UCSC Golden Path with GeneCards custom track

Genomic Locations for ERMARD Gene

Genomic Locations for ERMARD Gene
chr6:169,751,622-169,781,584
(GRCh38/hg38)
Size:
29,963 bases
Orientation:
Plus strand
chr6:170,151,718-170,181,680
(GRCh37/hg19)

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; 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

    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:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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.

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
mitochondrion 1
peroxisome 1

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

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

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
ERMARD

Expression for ERMARD Gene

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

NURSA nuclear receptor signaling pathways regulating expression of ERMARD Gene:

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

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 33
  • 99.21 (n)
C6ORF70 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C12H6orf70 33
  • 79.21 (n)
ERMARD 34
  • 75 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C9H6orf70 33
  • 78.85 (n)
ERMARD 34
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ermard 33
  • 77.33 (n)
mouse
(Mus musculus)
Mammalia Ermard 33 16 34
  • 76.15 (n)
9030025P20Rik 34
  • 70 (a)
OneToMany
Gm3435 34
  • 70 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ERMARD 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERMARD 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves C3H6ORF70 33
  • 66.01 (n)
ERMARD 34
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERMARD 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495616 33
  • 59.44 (n)
Species where no ortholog for ERMARD was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for ERMARD (if available)
TreeFam:
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 Variation AA Info Type
rs151283330 uncertain-significance, likely-benign, not provided, not specified 169,769,642(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs398122410 pathogenic, Periventricular nodular heterotopia 6, Periventricular nodular heterotopia 6 (PVNH6) [MIM:615544] 169,769,610(+) T/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs143351214 conflicting-interpretations-of-pathogenicity, not specified 169,773,331(+) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs113995515 likely-benign, not specified 169,776,058(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs141826774 likely-benign, not specified 169,756,407(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

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

Disorder Aliases PubMed IDs
periventricular nodular heterotopia 6
  • pvnh6
periventricular nodular heterotopia
  • periventricular heterotopia
6q terminal deletion syndrome
strabismus
  • strabismus, susceptibility to
- 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.

Additional Disease Information for ERMARD

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

No data available for Genatlas for ERMARD Gene

Publications for ERMARD Gene

  1. 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 58
  2. 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 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58

Products for ERMARD Gene

Sources for ERMARD Gene

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