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    C6orf47 chromosome 6 open reading frame 47 [ Homo sapiens (human) ]

    Gene ID: 57827, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C6orf47provided by HGNC
    Official Full Name
    chromosome 6 open reading frame 47provided by HGNC
    Primary source
    HGNC:HGNC:19076
    See related
    Ensembl:ENSG00000204439 AllianceGenome:HGNC:19076
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G4; NG34; D6S53E
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    mouse all
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    Genomic context

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    See C6orf47 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31658298..31660778, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31511331..31513811, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31626075..31628555, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene proline rich coiled-coil 2A Neighboring gene ReSE screen-validated silencer GRCh37_chr6:31602456-31602619 Neighboring gene microRNA 6832 Neighboring gene BAG cochaperone 6 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31619307-31619886 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31619887-31620466 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31620467-31621046 Neighboring gene apolipoprotein M Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31627653-31628190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31628191-31628727 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31633065-31633659 Neighboring gene G-patch domain and ankyrin repeats 1 Neighboring gene casein kinase 2 beta Neighboring gene lymphocyte antigen 6 family member G5B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Identification of multiple HTF-island associated genes in the human major histocompatibility complex class III region. Sargent CA, et al. EMBO J, 1989 Aug. PMID 2477242, Free PMC Article
    2. Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis. Harney SM, et al. Rheumatology (Oxford), 2008 Dec. PMID 18835879
    3. Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach. McKinnon E, et al. Diabetes Obes Metab, 2009 Feb. PMID 19143821, Free PMC Article
    4. Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. Xie T, et al. Genome Res, 2003 Dec. PMID 14656967, Free PMC Article
    5. Large-scale phosphomimetic screening identifies phospho-modulated motif-based protein interactions. Kliche J, et al. Mol Syst Biol, 2023 Jul 11. PMID 37219487, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C6orf47
    Names
    protein G4

    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.

    mRNA and Protein(s)

    1. NM_021184.4 → NP_067007.3  uncharacterized protein C6orf47

      See identical proteins and their annotated locations for NP_067007.3

      Status: VALIDATED

      Source sequence(s)
      AJ245433, AL662899, BC012950, BC063584
      Consensus CDS
      CCDS34399.1
      UniProtKB/Swiss-Prot
      B0UXA1, B0UZ50, O95873, Q5SSS6, Q95IG0
      UniProtKB/TrEMBL
      A0A1U9X7F2, A0A1U9X7F9
      Related
      ENSP00000365076.1, ENST00000375911.2
      Conserved Domains (1) summary
      pfam15576
      Location:16 → 265
      DUF4661; Domain of unknown function (DUF4661)

    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
      31658298..31660778 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3135587..3138068 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      2906069..2908549 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      2963344..2965825 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      3000170..3002650 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      2914116..2916596 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      2957575..2960055 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      31511331..31513811 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95873.2 GenPept UniProtKB/Swiss-Prot:O95873

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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