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    ERMARD ER membrane associated RNA degradation [ Homo sapiens (human) ]

    Gene ID: 55780, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ERMARDprovided by HGNC
    Official Full Name
    ER membrane associated RNA degradationprovided by HGNC
    Primary source
    HGNC:HGNC:21056
    See related
    Ensembl:ENSG00000130023 MIM:615532; AllianceGenome:HGNC:21056
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PVNH6; C6orf70; dJ266L20.3
    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 are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
    Expression
    Ubiquitous expression in testis (RPKM 11.2), thyroid (RPKM 6.1) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ERMARD in Genome Data Viewer
    Location:
    6q27
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (169751306..169781600)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (171105236..171135403)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (170151718..170181696)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 27 Neighboring gene uncharacterized LOC124901471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170040667-170041282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170047131-170048124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25463 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:170056229-170057024 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:170057025-170057820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170061015-170061514 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:170062913-170064112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170068091-170068591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170067590-170068090 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:170067058-170067246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170092723-170093223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17799 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:170124719-170125261 Neighboring gene chromosome 6 open reading frame 120 Neighboring gene MPRA-validated peak6328 silencer Neighboring gene PHD finger protein 10 Neighboring gene dynein light chain Tctex-type 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170171824-170172324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170172325-170172825 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:170183046-170183546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170200599-170201291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170201292-170201985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170201986-170202678 Neighboring gene long intergenic non-protein coding RNA 242 Neighboring gene long intergenic non-protein coding RNA 574 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:170227060-170227735 Neighboring gene zinc finger protein 227-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Conti V, et al. Brain, 2013 Nov. PMID 24056535
    2. Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107410
    3. Comprehensive analysis of the HEPN superfamily: identification of novel roles in intra-genomic conflicts, defense, pathogenesis and RNA processing. Anantharaman V, et al. Biol Direct, 2013 Jun 15. PMID 23768067, Free PMC Article
    4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Periventricular nodular heterotopia 6
    MedGen: C3809872 OMIM: 615544 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2013-11-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2013-11-13)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11152

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    endoplasmic reticulum membrane-associated RNA degradation protein
    Names
    transmembrane protein C6orf70

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033842.1 RefSeqGene

      Range
      5001..34979
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278531.2 → NP_001265460.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform 2

      See identical proteins and their annotated locations for NP_001265460.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon and contains another alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AA909435, AK001369, AL354892, DA650477
      Consensus CDS
      CCDS64572.1
      UniProtKB/Swiss-Prot
      Q5T6L9
      Related
      ENSP00000355734.1, ENST00000366772.6
      Conserved Domains (1) summary
      pfam13910
      Location:133 → 214
      DUF4209; Domain of unknown function (DUF4209)

    2. NM_001278532.2 → NP_001265461.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform 3

      See identical proteins and their annotated locations for NP_001265461.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' end and uses a downstream start codon compared to variant 1. It encodes isoform 3, which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AA909435, AK002014, AK294090, AL354892, DA650477
      Consensus CDS
      CCDS64574.1
      UniProtKB/Swiss-Prot
      Q5T6L9
      Related
      ENSP00000375945.4, ENST00000392095.8
      Conserved Domains (1) summary
      pfam13910
      Location:7 → 88
      DUF4209; Domain of unknown function (DUF4209)

    3. NM_001278533.2 → NP_001265462.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform 4

      See identical proteins and their annotated locations for NP_001265462.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AA909435, AL354892, BC044812, DA650477
      Consensus CDS
      CCDS64573.1
      UniProtKB/Swiss-Prot
      Q5T6L9
      Related
      ENSP00000397661.2, ENST00000418781.7
      Conserved Domains (1) summary
      pfam13910
      Location:133 → 214
      DUF4209; Domain of unknown function (DUF4209)

    4. NM_001410957.1 → NP_001397886.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL354892
      Consensus CDS
      CCDS94040.1
      UniProtKB/TrEMBL
      K7ERF7
      Related
      ENSP00000468240.1, ENST00000588451.1

    5. NM_018341.3 → NP_060811.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform 1

      See identical proteins and their annotated locations for NP_060811.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA909435, AK002014, AK294090, AL354892, DA650477
      Consensus CDS
      CCDS34576.1
      UniProtKB/Swiss-Prot
      B4DFH0, F8WAF1, Q3ZCS8, Q5T6L8, Q5T6L9, Q9NUT5, Q9NVU2
      Related
      ENSP00000355735.3, ENST00000366773.8
      Conserved Domains (1) summary
      pfam13910
      Location:133 → 214
      DUF4209; Domain of unknown function (DUF4209)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      169751306..169781600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419020.1 → XP_047274976.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X5

    2. XM_047419021.1 → XP_047274977.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X5

    3. XM_011535938.4 → XP_011534240.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X1

      See identical proteins and their annotated locations for XP_011534240.1

      Conserved Domains (1) summary
      pfam13910
      Location:133 → 214
      DUF4209; Domain of unknown function (DUF4209)

    4. XM_047419018.1 → XP_047274974.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X2

    5. XM_047419023.1 → XP_047274979.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X6

    6. XM_017011030.2 → XP_016866519.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X4

    7. XM_047419019.1 → XP_047274975.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X3

    8. XM_047419025.1 → XP_047274981.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X8

    9. XM_047419024.1 → XP_047274980.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X7

    10. XM_011535940.3 → XP_011534242.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X5

      See identical proteins and their annotated locations for XP_011534242.1

      UniProtKB/Swiss-Prot
      Q5T6L9
      Conserved Domains (1) summary
      pfam13910
      Location:7 → 88
      DUF4209; Domain of unknown function (DUF4209)

    11. XM_017011031.2 → XP_016866520.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X4

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187552.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      26508..56802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328674.1 → XP_054184649.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X5

    2. XM_054328669.1 → XP_054184644.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X1

    3. XM_054328670.1 → XP_054184645.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X2

    4. XM_054328679.1 → XP_054184654.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X6

    5. XM_054328672.1 → XP_054184647.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X4

    6. XM_054328675.1 → XP_054184650.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X9

    7. XM_054328671.1 → XP_054184646.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X3

    8. XM_054328681.1 → XP_054184656.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X8

    9. XM_054328680.1 → XP_054184655.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X7

    10. XM_054328678.1 → XP_054184653.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X5

    11. XM_054328677.1 → XP_054184652.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X5

    12. XM_054328676.1 → XP_054184651.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X5

    13. XM_054328673.1 → XP_054184648.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      171105236..171135403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355867.1 → XP_054211842.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X5

    2. XM_054355862.1 → XP_054211837.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X1

    3. XM_054355863.1 → XP_054211838.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X2

    4. XM_054355871.1 → XP_054211846.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X6

    5. XM_054355865.1 → XP_054211840.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X4

    6. XM_054355868.1 → XP_054211843.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X10

    7. XM_054355864.1 → XP_054211839.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X3

    8. XM_054355873.1 → XP_054211848.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X8

    9. XM_054355872.1 → XP_054211847.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X7

    10. XM_054355870.1 → XP_054211845.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X5

    11. XM_054355869.1 → XP_054211844.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X5

    12. XM_054355866.1 → XP_054211841.1  endoplasmic reticulum membrane-associated RNA degradation protein isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T6L9.1 GenPept UniProtKB/Swiss-Prot:Q5T6L9

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