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C5orf52 chromosome 5 open reading frame 52 [ Homo sapiens (human) ]

Gene ID: 100190949, updated on 27-Nov-2024

Summary

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Official Symbol
C5orf52provided by HGNC
Official Full Name
chromosome 5 open reading frame 52provided by HGNC
Primary source
HGNC:HGNC:35121
See related
Ensembl:ENSG00000187658 AllianceGenome:HGNC:35121
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
Biased expression in testis (RPKM 8.9), colon (RPKM 1.5) and 2 other tissues See more
Orthologs
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Genomic context

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See C5orf52 in Genome Data Viewer
Location:
5q33.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (157670941..157680158)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (158189985..158199183)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (157098541..157107166)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 390, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23527 Neighboring gene SRY-box transcription factor 30 Neighboring gene uncharacterized LOC105377675 Neighboring gene Sharpr-MPRA regulatory region 8057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:157098206-157098763 Neighboring gene Sharpr-MPRA regulatory region 5199 Neighboring gene uncharacterized LOC105377676 Neighboring gene SOX30 pseudogene 1

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. The DNA sequence and comparative analysis of human chromosome 5. Schmutz J, et al. Nature, 2004 Sep 16. PMID 15372022
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

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)

General gene information

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Markers

Homology

General protein information

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Preferred Names
uncharacterized protein C5orf52

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_001145132.2 → NP_001138604.1  uncharacterized protein C5orf52

    See identical proteins and their annotated locations for NP_001138604.1

    Status: VALIDATED

    Source sequence(s)
    AC008694, AI187821, BG721329
    Consensus CDS
    CCDS47329.1
    UniProtKB/Swiss-Prot
    A6NGY3
    Related
    ENSP00000387027.3, ENST00000409999.4

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    157670941..157680158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534416.3 → XP_011532718.1  uncharacterized protein C5orf52 isoform X1

    See identical proteins and their annotated locations for XP_011532718.1

    UniProtKB/Swiss-Prot
    A6NGY3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    158189985..158199183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351374.1 → XP_054207349.1  uncharacterized protein C5orf52 isoform X1

    UniProtKB/Swiss-Prot
    A6NGY3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NGY3.2 GenPept UniProtKB/Swiss-Prot:A6NGY3

Gene LinkOut

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