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    C16orf46 chromosome 16 open reading frame 46 [ Homo sapiens (human) ]

    Gene ID: 123775, updated on 28-Oct-2024

    Summary

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    Official Symbol
    C16orf46provided by HGNC
    Official Full Name
    chromosome 16 open reading frame 46provided by HGNC
    Primary source
    HGNC:HGNC:26525
    See related
    Ensembl:ENSG00000166455 AllianceGenome:HGNC:26525
    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
    Summary
    Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in testis (RPKM 4.0), thyroid (RPKM 3.1) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C16orf46 in Genome Data Viewer
    Location:
    16q23.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (81053497..81077238, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (87115033..87138779, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (81087102..81110843, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11175 Neighboring gene CENPN antisense RNA 1 Neighboring gene centromere protein N Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7750 Neighboring gene ATM interactor Neighboring gene uncharacterized LOC105371361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81110606-81111266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81111267-81111925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7752 Neighboring gene glycine cleavage system protein H Neighboring gene RNA, U6 small nuclear 1191, pseudogene Neighboring gene polycystin 1 like 2 (gene/pseudogene)

    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. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. Anney RJ, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Dec 5. PMID 18951430
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    3. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
    4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32702

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein C16orf46

    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_001100873.2 → NP_001094343.1  uncharacterized protein C16orf46 isoform 1

      See identical proteins and their annotated locations for NP_001094343.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC092718, AK057264, BC064143, DA525473
      Consensus CDS
      CCDS42201.1
      UniProtKB/Swiss-Prot
      Q6P387
      Related
      ENSP00000367874.4, ENST00000378611.8
      Conserved Domains (1) summary
      pfam15032
      Location:1 → 381
      DUF4529; Protein of unknown function (DUF4529)

    2. NM_152337.3 → NP_689550.2  uncharacterized protein C16orf46 isoform 2

      See identical proteins and their annotated locations for NP_689550.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks differs in the 5' UTR and in the 3' UTR and coding region compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AA905107, AC092718, AK057264, BC064143, DA525473
      Consensus CDS
      CCDS10932.1
      UniProtKB/Swiss-Prot
      Q6P387, Q96MA7
      Related
      ENSP00000299578.4, ENST00000299578.10
      Conserved Domains (1) summary
      pfam15032
      Location:1 → 395
      DUF4529; Protein of unknown function (DUF4529)

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      81053497..81077238 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005255792.3 → XP_005255849.1  uncharacterized protein C16orf46 isoform X2

      See identical proteins and their annotated locations for XP_005255849.1

      UniProtKB/Swiss-Prot
      Q6P387
      Conserved Domains (1) summary
      pfam15032
      Location:1 → 381
      DUF4529; Protein of unknown function (DUF4529)

    2. XM_047433586.1 → XP_047289542.1  uncharacterized protein C16orf46 isoform X1

      UniProtKB/Swiss-Prot
      Q6P387, Q96MA7

    3. XM_011522849.3 → XP_011521151.3  uncharacterized protein C16orf46 isoform X1

      UniProtKB/Swiss-Prot
      Q6P387, Q96MA7

    4. XM_011522848.3 → XP_011521150.3  uncharacterized protein C16orf46 isoform X1

      UniProtKB/Swiss-Prot
      Q6P387, Q96MA7

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791800.1 Reference GRCh38.p14 PATCHES

      Range
      101736..125477 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333190.1 → XP_054189165.1  uncharacterized protein C16orf46 isoform X2

    2. XM_054333189.1 → XP_054189164.1  uncharacterized protein C16orf46 isoform X1

      UniProtKB/Swiss-Prot
      Q6P387, Q96MA7

    3. XM_054333187.1 → XP_054189162.1  uncharacterized protein C16orf46 isoform X1

      UniProtKB/Swiss-Prot
      Q6P387, Q96MA7

    4. XM_054333188.1 → XP_054189163.1  uncharacterized protein C16orf46 isoform X1

      UniProtKB/Swiss-Prot
      Q6P387, Q96MA7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      87115033..87138779 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379540.1 → XP_054235515.1  uncharacterized protein C16orf46 isoform X2

    2. XM_054379539.1 → XP_054235514.1  uncharacterized protein C16orf46 isoform X1

    3. XM_054379537.1 → XP_054235512.1  uncharacterized protein C16orf46 isoform X1

    4. XM_054379538.1 → XP_054235513.1  uncharacterized protein C16orf46 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P387.2 GenPept UniProtKB/Swiss-Prot:Q6P387

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