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

Gene ID: 57827, updated on 5-Mar-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
Orthologs
mouse all
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Genomic context

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Location:
6p21.33
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31658298..31660778, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31511331..31513811, complement)
105.20220307 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. Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region. Lehner B, et al. Genomics, 2004 Jan. PMID 14667819

See all (21) 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)

Genotypes

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_2023_10

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

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