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    C4orf51 chromosome 4 open reading frame 51 [ Homo sapiens (human) ]

    Gene ID: 646603, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C4orf51provided by HGNC
    Official Full Name
    chromosome 4 open reading frame 51provided by HGNC
    Primary source
    HGNC:HGNC:37264
    See related
    Ensembl:ENSG00000237136 AllianceGenome:HGNC:37264
    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
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

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    See C4orf51 in Genome Data Viewer
    Location:
    4q31.21
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (145680146..145792443)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (148995961..149108468)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (146601298..146653949)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15732 Neighboring gene long intergenic non-protein coding RNA 2491 Neighboring gene nuclear receptor coactivator 4 pseudogene 3 Neighboring gene metabolism of cobalamin associated A Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:146608063-146608617 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:146619735-146620662 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146620663-146621589 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:146624094-146624783 Neighboring gene NANOG hESC enhancer GRCh37_chr4:146625046-146625631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15733 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:146655149-146655948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:146655949-146656746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:146683575-146684076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:146684077-146684576 Neighboring gene zinc finger protein 827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21967 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:146729136-146730335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21969 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:146746417-146746985 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:146753533-146754304 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146756877-146757401 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146757402-146757925 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:146758974-146759498 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:146759499-146760022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146799791-146800383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:146853271-146853772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21972 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:146875811-146877010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21974 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:146975373-146976572 Neighboring gene uncharacterized LOC105377468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21978 Neighboring gene uncharacterized LOC105377469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21979 Neighboring gene long intergenic non-protein coding RNA 1095

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review. Vlaikou AM, et al. Cytogenet Genome Res, 2014. PMID 24733116
    2. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683

    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

    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

    General protein information

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    Preferred Names
    uncharacterized protein C4orf51

    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_001080531.3 → NP_001074000.1  uncharacterized protein C4orf51

      See identical proteins and their annotated locations for NP_001074000.1

      Status: VALIDATED

      Source sequence(s)
      AC093864, AC107212
      Consensus CDS
      CCDS47140.1
      UniProtKB/Swiss-Prot
      C9J302
      Related
      ENSP00000391404.1, ENST00000438731.7
      Conserved Domains (1) summary
      pfam15849
      Location:1 → 168
      DUF4722; Domain of unknown function (DUF4722)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      145680146..145792443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416079.1 → XP_047272035.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    2. XM_047416083.1 → XP_047272039.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    3. XM_047416086.1 → XP_047272042.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    4. XM_047416082.1 → XP_047272038.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    5. XM_047416078.1 → XP_047272034.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    6. XM_047416084.1 → XP_047272040.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    7. XM_047416085.1 → XP_047272041.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    8. XM_047416087.1 → XP_047272043.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    9. XM_047416080.1 → XP_047272036.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    10. XM_047416081.1 → XP_047272037.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    11. XM_024454189.2 → XP_024309957.1  uncharacterized protein C4orf51 isoform X3

      Conserved Domains (1) summary
      pfam15849
      Location:1 → 103
      DUF4722; Domain of unknown function (DUF4722)

    12. XM_024454188.2 → XP_024309956.1  uncharacterized protein C4orf51 isoform X2

      Conserved Domains (1) summary
      pfam15849
      Location:1 → 102
      DUF4722; Domain of unknown function (DUF4722)

    13. XM_024454190.2 → XP_024309958.1  uncharacterized protein C4orf51 isoform X4

      Conserved Domains (1) summary
      pfam15849
      Location:1 → 104
      DUF4722; Domain of unknown function (DUF4722)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      148995961..149108468
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350724.1 → XP_054206699.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    2. XM_054350723.1 → XP_054206698.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    3. XM_054350727.1 → XP_054206702.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    4. XM_054350722.1 → XP_054206697.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    5. XM_054350719.1 → XP_054206694.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    6. XM_054350725.1 → XP_054206700.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    7. XM_054350726.1 → XP_054206701.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    8. XM_054350728.1 → XP_054206703.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    9. XM_054350720.1 → XP_054206695.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    10. XM_054350721.1 → XP_054206696.1  uncharacterized protein C4orf51 isoform X1

      UniProtKB/Swiss-Prot
      C9J302

    11. XM_054350730.1 → XP_054206705.1  uncharacterized protein C4orf51 isoform X3

    12. XM_054350729.1 → XP_054206704.1  uncharacterized protein C4orf51 isoform X2

    13. XM_054350731.1 → XP_054206706.1  uncharacterized protein C4orf51 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    C9J302.1 GenPept UniProtKB/Swiss-Prot:C9J302

    Gene LinkOut

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