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    C21orf58 chromosome 21 open reading frame 58 [ Homo sapiens (human) ]

    Gene ID: 54058, updated on 23-Apr-2024

    Summary

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    Official Symbol
    C21orf58provided by HGNC
    Official Full Name
    chromosome 21 open reading frame 58provided by HGNC
    Primary source
    HGNC:HGNC:1300
    See related
    Ensembl:ENSG00000160298 AllianceGenome:HGNC:1300
    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
    Broad expression in bone marrow (RPKM 2.0), testis (RPKM 2.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C21orf58 in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (46300430..46323870, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (44685809..44709216, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47720344..47743784, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47614165-47614666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47614667-47615166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47621241-47621767 Neighboring gene small nucleolar RNA, C/D box 159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47638552-47639452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47640419-47640920 Neighboring gene lanosterol synthase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13414 Neighboring gene Sharpr-MPRA regulatory region 3947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13416 Neighboring gene MCM3AP antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18599 Neighboring gene minichromosome maintenance complex component 3 associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47709143-47709725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47709726-47710307 Neighboring gene Sharpr-MPRA regulatory region 4411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47715289-47715862 Neighboring gene Sharpr-MPRA regulatory region 1466 Neighboring gene ybeY metalloendoribonuclease Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47736113-47736948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47737784-47738618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47738619-47739453 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:47741059-47741321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13420 Neighboring gene uncharacterized LOC128092249 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:47746938-47747110 Neighboring gene pericentrin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18601 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47783310-47783810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18603 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47798693-47799473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47805909-47806409 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47823360-47823870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47823871-47824380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47831521-47832096 Neighboring gene ribosomal protein L18a pseudogene 2

    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. From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. Reymond A, et al. Genomics, 2001 Nov. PMID 11707072
    2. [IMAGE: molecular integration of the analysis of the human genome and its expression]. Auffray C, et al. C R Acad Sci III, 1995 Feb. PMID 7757816
    3. Low BACH2 Expression Predicts Adverse Outcome in Chronic Lymphocytic Leukaemia. Ciardullo C, et al. Cancers (Basel), 2021 Dec 21. PMID 35008187, Free PMC Article
    4. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. Wang J, et al. J Proteome Res, 2008 Sep. PMID 18624398
    5. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Targeting C21orf58 is a Novel Treatment Strategy of Hepatocellular Carcinoma by Disrupting the Formation of JAK2/C21orf58/STAT3 Complex.
      Title: Targeting C21orf58 is a Novel Treatment Strategy of Hepatocellular Carcinoma by Disrupting the Formation of JAK2/C21orf58/STAT3 Complex.
    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

    General protein information

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    Preferred Names
    uncharacterized protein C21orf58

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001286462.2 → NP_001273391.1  uncharacterized protein C21orf58 isoform 2

      See identical proteins and their annotated locations for NP_001273391.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, uses alternate acceptor splice sites at 2 internal exons and is alternatively spliced at the 3' end compared to variant 1. The differences at the 5' end result in translation initiation from an alternate start codon, and a shorter isoform (2) with a distinct N-terminus compared to isoform 1. Variants 2-5 encode the same isoform.
      Source sequence(s)
      AK056387, BC028934, CB305953
      Consensus CDS
      CCDS68229.1
      UniProtKB/Swiss-Prot
      P58505
      Related
      ENSP00000380799.1, ENST00000397683.5
      Conserved Domains (1) summary
      pfam15248
      Location:128 → 185
      DUF4587; Domain of unknown function (DUF4587)

    2. NM_001286463.1 → NP_001273392.1  uncharacterized protein C21orf58 isoform 2

      See identical proteins and their annotated locations for NP_001273392.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses alternate acceptor splice sites at 2 internal exons that results in translation initiation from an alternate start codon compared to variant 1. The resulting shorter isoform (2) has a distinct N-terminus compared to isoform 1. Variants 2-5 encode the same isoform.
      Source sequence(s)
      AK056387, AK096641, AK098098, BM475055
      Consensus CDS
      CCDS68229.1
      UniProtKB/Swiss-Prot
      P58505
      Related
      ENSP00000380796.1, ENST00000397679.5
      Conserved Domains (1) summary
      pfam15248
      Location:128 → 185
      DUF4587; Domain of unknown function (DUF4587)

    3. NM_001286476.2 → NP_001273405.1  uncharacterized protein C21orf58 isoform 2

      See identical proteins and their annotated locations for NP_001273405.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses alternate acceptor splice sites at 2 internal exons and is alternatively spliced at the 3' end compared to variant 1. The differences at the 5' end result in translation initiation from an alternate start codon, and a shorter isoform (2) with a distinct N-terminus compared to isoform 1. Variants 2-5 encode the same isoform.
      Source sequence(s)
      AP000471
      Consensus CDS
      CCDS68229.1
      UniProtKB/Swiss-Prot
      P58505
      Related
      ENSP00000380798.3, ENST00000397682.7
      Conserved Domains (1) summary
      pfam15248
      Location:128 → 185
      DUF4587; Domain of unknown function (DUF4587)

    4. NM_001286477.2 → NP_001273406.1  uncharacterized protein C21orf58 isoform 2

      See identical proteins and their annotated locations for NP_001273406.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses alternate splice sites at the 5' terminal exon and an internal exon that results in translation initiation from an alternate start codon compared to variant 1. The resulting shorter isoform (2) has a distinct N-terminus compared to isoform 1. Variants 2-5 encode the same isoform.
      Source sequence(s)
      AP000471
      Consensus CDS
      CCDS68229.1
      UniProtKB/Swiss-Prot
      P58505
      Related
      ENSP00000380797.1, ENST00000397680.5
      Conserved Domains (1) summary
      pfam15248
      Location:128 → 185
      DUF4587; Domain of unknown function (DUF4587)

    5. NM_058180.5 → NP_478060.2  uncharacterized protein C21orf58 isoform 1

      See identical proteins and their annotated locations for NP_478060.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP000471
      Consensus CDS
      CCDS13735.1
      UniProtKB/Swiss-Prot
      B3KPI1, P58505, Q8N7N9
      UniProtKB/TrEMBL
      H7C1T9
      Related
      ENSP00000291691.8, ENST00000291691.12
      Conserved Domains (1) summary
      pfam15248
      Location:234 → 291
      DUF4587; Domain of unknown function (DUF4587)

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      46300430..46323870 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724018.5 → XP_006724081.1  uncharacterized protein C21orf58 isoform X4

      UniProtKB/TrEMBL
      H0YCB6
      Conserved Domains (1) summary
      pfam15248
      Location:234 → 268
      DUF4587; Domain of unknown function (DUF4587)

    2. XM_011529619.4 → XP_011527921.1  uncharacterized protein C21orf58 isoform X1

      See identical proteins and their annotated locations for XP_011527921.1

      UniProtKB/Swiss-Prot
      B3KPI1, P58505, Q8N7N9
      UniProtKB/TrEMBL
      H7C1T9
      Conserved Domains (1) summary
      pfam15248
      Location:234 → 291
      DUF4587; Domain of unknown function (DUF4587)

    3. XM_047440894.1 → XP_047296850.1  uncharacterized protein C21orf58 isoform X6

      Related
      ENSP00000431312.1, ENST00000491666.5

    4. XM_011529620.4 → XP_011527922.1  uncharacterized protein C21orf58 isoform X1

      See identical proteins and their annotated locations for XP_011527922.1

      UniProtKB/Swiss-Prot
      B3KPI1, P58505, Q8N7N9
      UniProtKB/TrEMBL
      H7C1T9
      Conserved Domains (1) summary
      pfam15248
      Location:234 → 291
      DUF4587; Domain of unknown function (DUF4587)

    5. XM_047440893.1 → XP_047296849.1  uncharacterized protein C21orf58 isoform X2

    6. XM_047440892.1 → XP_047296848.1  uncharacterized protein C21orf58 isoform X2

    7. XM_005261148.6 → XP_005261205.1  uncharacterized protein C21orf58 isoform X1

      See identical proteins and their annotated locations for XP_005261205.1

      UniProtKB/Swiss-Prot
      B3KPI1, P58505, Q8N7N9
      UniProtKB/TrEMBL
      H7C1T9
      Conserved Domains (1) summary
      pfam15248
      Location:234 → 291
      DUF4587; Domain of unknown function (DUF4587)

    8. XM_011529623.4 → XP_011527925.1  uncharacterized protein C21orf58 isoform X3

      UniProtKB/TrEMBL
      H7C1T9
      Conserved Domains (1) summary
      pfam15248
      Location:207 → 264
      DUF4587; Domain of unknown function (DUF4587)

    9. XM_047440895.1 → XP_047296851.1  uncharacterized protein C21orf58 isoform X7

      Related
      ENSP00000402356.1, ENST00000417060.5

    10. XM_017028392.2 → XP_016883881.1  uncharacterized protein C21orf58 isoform X8

      UniProtKB/Swiss-Prot
      P58505
      Conserved Domains (1) summary
      pfam15248
      Location:128 → 185
      DUF4587; Domain of unknown function (DUF4587)

    11. XM_017028393.2 → XP_016883882.1  uncharacterized protein C21orf58 isoform X8

      UniProtKB/Swiss-Prot
      P58505
      Conserved Domains (1) summary
      pfam15248
      Location:128 → 185
      DUF4587; Domain of unknown function (DUF4587)

    12. XM_011529624.3 → XP_011527926.1  uncharacterized protein C21orf58 isoform X5

      Conserved Domains (1) summary
      pfam15248
      Location:169 → 226
      DUF4587; Domain of unknown function (DUF4587)

    13. XM_047440896.1 → XP_047296852.1  uncharacterized protein C21orf58 isoform X10

    14. XM_011529628.3 → XP_011527930.1  uncharacterized protein C21orf58 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      44685809..44709216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324643.1 → XP_054180618.1  uncharacterized protein C21orf58 isoform X4

    2. XM_054324638.1 → XP_054180613.1  uncharacterized protein C21orf58 isoform X1

      UniProtKB/Swiss-Prot
      B3KPI1, P58505, Q8N7N9

    3. XM_054324639.1 → XP_054180614.1  uncharacterized protein C21orf58 isoform X1

      UniProtKB/Swiss-Prot
      B3KPI1, P58505, Q8N7N9

    4. XM_054324645.1 → XP_054180620.1  uncharacterized protein C21orf58 isoform X6

    5. XM_054324641.1 → XP_054180616.1  uncharacterized protein C21orf58 isoform X2

    6. XM_054324640.1 → XP_054180615.1  uncharacterized protein C21orf58 isoform X2

    7. XM_054324637.1 → XP_054180612.1  uncharacterized protein C21orf58 isoform X1

      UniProtKB/Swiss-Prot
      B3KPI1, P58505, Q8N7N9

    8. XM_054324649.1 → XP_054180624.1  uncharacterized protein C21orf58 isoform X7

    9. XM_054324646.1 → XP_054180621.1  uncharacterized protein C21orf58 isoform X7

    10. XM_054324642.1 → XP_054180617.1  uncharacterized protein C21orf58 isoform X3

    11. XM_054324647.1 → XP_054180622.1  uncharacterized protein C21orf58 isoform X7

    12. XM_054324650.1 → XP_054180625.1  uncharacterized protein C21orf58 isoform X7

    13. XM_054324648.1 → XP_054180623.1  uncharacterized protein C21orf58 isoform X7

    14. XM_054324652.1 → XP_054180627.1  uncharacterized protein C21orf58 isoform X8

    15. XM_054324651.1 → XP_054180626.1  uncharacterized protein C21orf58 isoform X8

    16. XM_054324644.1 → XP_054180619.1  uncharacterized protein C21orf58 isoform X5

    17. XM_054324654.1 → XP_054180629.1  uncharacterized protein C21orf58 isoform X10

    18. XM_054324653.1 → XP_054180628.1  uncharacterized protein C21orf58 isoform X9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199071.2: Suppressed sequence

      Description
      NM_199071.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P58505.2 GenPept UniProtKB/Swiss-Prot:P58505

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