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    C8orf44 chromosome 8 putative open reading frame 44 [ Homo sapiens (human) ]

    Gene ID: 56260, updated on 5-Mar-2024

    Summary

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    Official Symbol
    C8orf44provided by HGNC
    Official Full Name
    chromosome 8 putative open reading frame 44provided by HGNC
    Primary source
    HGNC:HGNC:25646
    See related
    Ensembl:ENSG00000288596 AllianceGenome:HGNC:25646
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 1.9), testis (RPKM 1.9) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See C8orf44 in Genome Data Viewer
    Location:
    8q13.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (66667596..66681531)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (67093351..67107284)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (67579831..67593766)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27484 Neighboring gene uncharacterized LOC105375884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27488 Neighboring gene valosin containing protein interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27490 Neighboring gene C8orf44-SGK3 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19255 Neighboring gene serum/glucocorticoid regulated kinase family member 3 Neighboring gene NANOG hESC enhancer GRCh37_chr8:67666223-67666757 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:67687144-67687644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:67690173-67690674 Neighboring gene pituitary tumor-transforming 3, pseudogene Neighboring gene MPRA-validated peak7059 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27492 Neighboring gene minichromosome maintenance domain containing 2 Neighboring gene small nucleolar RNA, C/D box 87 Neighboring gene small nucleolar RNA host gene 6

    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. Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint. Bailey ML, et al. Genetics, 2015 Nov. PMID 26354767, Free PMC Article
    2. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    3. 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
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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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    Readthrough C8orf44-SGK3

    Readthrough gene: C8orf44-SGK3, Included gene: SGK3

    Homology

    Clone Names

    • FLJ11267

    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.

    RNA

    1. NR_161216.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AC090154
      Related
      ENST00000661636.1

    2. NR_161217.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC090154

    3. NR_161218.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC090154
      Related
      ENST00000521889.5

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      66667596..66681531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      67093351..67107284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_019607.2: Suppressed sequence

      Description
      NM_019607.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CB5.2 GenPept UniProtKB/Swiss-Prot:Q96CB5

    Gene LinkOut

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

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