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    C4orf17 chromosome 4 open reading frame 17 [ Homo sapiens (human) ]

    Gene ID: 84103, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C4orf17provided by HGNC
    Official Full Name
    chromosome 4 open reading frame 17provided by HGNC
    Primary source
    HGNC:HGNC:25274
    See related
    Ensembl:ENSG00000138813 AllianceGenome:HGNC:25274
    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
    Restricted expression toward testis (RPKM 11.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See C4orf17 in Genome Data Viewer
    Location:
    4q23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99511021..99542303)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102825795..102857071)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100432178..100463460)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723576 Neighboring gene D-E enhancer region downstream of ADH7 Neighboring gene ADH7 promoter Neighboring gene alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:100367692-100368891 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:100484300-100485499 Neighboring gene tRNA methyltransferase 10A Neighboring gene microsomal triglyceride transfer protein

    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. Novel genes involved in canonical Wnt/beta-catenin signaling pathway in early Ciona intestinalis embryos. Wada S, et al. Dev Growth Differ, 2008 May. PMID 18336583
    2. A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. Östensson M, et al. PLoS One, 2013. PMID 23936387, Free PMC Article
    3. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. Luykx JJ, et al. Mol Psychiatry, 2014 Feb. PMID 23319000
    4. Genetic variants associated with disordered eating. Wade TD, et al. Int J Eat Disord, 2013 Sep. PMID 23568457, Free PMC Article
    5. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924

    See all (16) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    EBI GWAS Catalog

    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

    Clone Names

    • DKFZp434G072

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C4orf17

    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_032149.3 → NP_115525.2  uncharacterized protein C4orf17

      See identical proteins and their annotated locations for NP_115525.2

      Status: VALIDATED

      Source sequence(s)
      AK223345, AL136838
      Consensus CDS
      CCDS3649.1
      UniProtKB/Swiss-Prot
      Q53FE4, Q6FI84, Q6IS77, Q8NA78, Q9H0D9
      UniProtKB/TrEMBL
      B2RBK9
      Related
      ENSP00000322582.4, ENST00000326581.9
      Conserved Domains (1) summary
      pfam15256
      Location:27 → 222
      SPATIAL; SPATIAL

    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
      99511021..99542303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532315.3 → XP_011530617.1  uncharacterized protein C4orf17 isoform X1

      Related
      ENSP00000423411.1, ENST00000477187.1
      Conserved Domains (1) summary
      pfam15256
      Location:27 → 182
      SPATIAL; SPATIAL

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      102825795..102857071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350982.1 → XP_054206957.1  uncharacterized protein C4orf17 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53FE4.3 GenPept UniProtKB/Swiss-Prot:Q53FE4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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