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    C5orf15 chromosome 5 open reading frame 15 [ Homo sapiens (human) ]

    Gene ID: 56951, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C5orf15provided by HGNC
    Official Full Name
    chromosome 5 open reading frame 15provided by HGNC
    Primary source
    HGNC:HGNC:20656
    See related
    Ensembl:ENSG00000113583 AllianceGenome:HGNC:20656
    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
    Also known as
    KCT2; HTGN29
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 33.5), kidney (RPKM 32.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C5orf15 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (133955510..133968625, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (134479154..134492270, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (133291201..133304316, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16348 Neighboring gene WNT signaling pathway activating non-coding RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:133268859-133269486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23112 Neighboring gene uncharacterized LOC105379183 Neighboring gene MPRA-validated peak5471 silencer Neighboring gene voltage dependent anion channel 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23116 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23120 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133382518-133383158 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133383159-133383798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:133385203-133385778 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:133387505-133388080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133394172-133394770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:133394771-133395367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23121 Neighboring gene short transmembrane mitochondrial protein 1-like

    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. A meta-validated immune infiltration-related gene model predicts prognosis and immunotherapy sensitivity in HNSCC. Ding Y, et al. BMC Cancer, 2023 Jan 13. PMID 36639648, Free PMC Article
    2. Identification of novel genes for secreted and membrane-anchored proteins in human keratinocytes. Bonkobara M, et al. Br J Dermatol, 2003 Apr. PMID 12752121
    3. 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
    4. Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. Xie T, et al. Neurobiol Aging, 2014 Jul. PMID 24529757
    5. Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint. Bailey ML, et al. Genetics, 2015 Nov. PMID 26354767, Free PMC Article

    See all (28) 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
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    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

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    keratinocyte-associated transmembrane protein 2
    Names
    keratinocytes associated transmembrane protein 2

    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_020199.3 → NP_064584.1  keratinocyte-associated transmembrane protein 2 precursor

      See identical proteins and their annotated locations for NP_064584.1

      Status: VALIDATED

      Source sequence(s)
      BC020875, BM681428, BP245947
      Consensus CDS
      CCDS4167.1
      UniProtKB/Swiss-Prot
      B2RD10, D3DQ92, Q8NC54, Q9NRG2
      Related
      ENSP00000231512.3, ENST00000231512.5

    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
      133955510..133968625 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      134479154..134492270 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NC54.2 GenPept UniProtKB/Swiss-Prot:Q8NC54

    Gene LinkOut

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

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