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C6orf52 chromosome 6 open reading frame 52 [ Homo sapiens (human) ]

Gene ID: 347744, updated on 9-Dec-2022

Summary

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Official Symbol
C6orf52provided by HGNC
Official Full Name
chromosome 6 open reading frame 52provided by HGNC
Primary source
HGNC:HGNC:20881
See related
Ensembl:ENSG00000137434 AllianceGenome:HGNC:20881
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 testis (RPKM 2.9), prostate (RPKM 1.5) and 16 other tissues See more
Orthologs
all
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Genomic context

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See C6orf52 in Genome Data Viewer
Location:
6p24.2
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10671422..10694891, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10539141..10562516, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10671655..10695030, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene glucosaminyl (N-acetyl) transferase 2 (I blood group) Neighboring gene Sharpr-MPRA regulatory region 5327 Neighboring gene GCNT2 pseudogene 1 Neighboring gene PAK1 interacting protein 1 Neighboring gene Sharpr-MPRA regulatory region 12108 Neighboring gene transmembrane protein 14C Neighboring gene TMEM14B divergent transcript

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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

See citations in PubMed for homologs of this gene provided by HomoloGene

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)

Genotypes

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables tRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
involved_in selenocysteine incorporation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
putative uncharacterized protein C6orf52

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_001145020.3 → NP_001138492.1  putative uncharacterized protein C6orf52 isoform 1

    See identical proteins and their annotated locations for NP_001138492.1

    Status: VALIDATED

    Source sequence(s)
    AI376550, AI809192, AL358777, AW293245, BC016820
    Consensus CDS
    CCDS47371.1
    UniProtKB/Swiss-Prot
    Q5T4I8, Q96AS6
    Related
    ENSP00000259983.3, ENST00000259983.8

  2. NM_001354357.2 → NP_001341286.1  putative uncharacterized protein C6orf52 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AI621292, BX280692
    Consensus CDS
    CCDS87364.1
    UniProtKB/TrEMBL
    D6RAP8
    Related
    ENSP00000421837.1, ENST00000503680.1

  3. NM_001388310.1 → NP_001375239.1  putative uncharacterized protein C6orf52 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL358777
    Conserved Domains (1) summary
    pfam17654
    Location:15 → 177
    Trnau1ap; Selenocysteine tRNA 1 associated proteins

  4. NM_001388311.1 → NP_001375240.1  putative uncharacterized protein C6orf52 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL358777
    Conserved Domains (1) summary
    pfam17654
    Location:15 → 171
    Trnau1ap; Selenocysteine tRNA 1 associated proteins

RNA

  1. NR_026737.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL358777, AW183566, BC016820

  2. NR_148536.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL358777

  3. NR_148537.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL358777
    Related
    ENST00000379586.5

  4. NR_148870.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL358777
    Related
    ENST00000467832.2

  5. NR_170935.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL358777

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    10671422..10694891 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514572.3 → XP_011512874.1  putative uncharacterized protein C6orf52 isoform X1

  2. XM_011514574.3 → XP_011512876.1  putative uncharacterized protein C6orf52 isoform X2

  3. XM_024446422.2 → XP_024302190.1  putative uncharacterized protein C6orf52 isoform X3

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654713.1 Reference GRCh38.p14 PATCHES

    Range
    182306..205681 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    10539141..10562516 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T4I8.2 GenPept UniProtKB/Swiss-Prot:Q5T4I8

Gene LinkOut

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