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

Gene ID: 54058, updated on 3-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (46300430..46323870, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (44685809..44709216, complement)
RS_2024_09 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 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. Targeting C21orf58 is a Novel Treatment Strategy of Hepatocellular Carcinoma by Disrupting the Formation of JAK2/C21orf58/STAT3 Complex. Jiang H, et al. Adv Sci (Weinh), 2024 Apr. PMID 38342622, Free PMC Article
  2. 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
  3. [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
  4. Low BACH2 Expression Predicts Adverse Outcome in Chronic Lymphocytic Leukaemia. Ciardullo C, et al. Cancers (Basel), 2021 Dec 21. PMID 35008187, Free PMC Article
  5. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. Wang J, et al. J Proteome Res, 2008 Sep. PMID 18624398

See all (15) 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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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_2024_08

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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