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    CT47A12 cancer/testis antigen family 47 member A12 [ Homo sapiens (human) ]

    Gene ID: 100507170, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CT47A12provided by HGNC
    Official Full Name
    cancer/testis antigen family 47 member A12provided by HGNC
    Primary source
    HGNC:HGNC:33292
    See related
    Ensembl:ENSG00000226685 AllianceGenome:HGNC:33292
    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
    CT47; CT47.12
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Restricted expression toward testis (RPKM 5.8) See more
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    Genomic context

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    See CT47A12 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (120877490..120932301, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (119253165..119256487, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (120011344..120066155, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene proliferation-associated 2G4 pseudogene 1 Neighboring gene cancer/testis antigen family 47 member B1 Neighboring gene cancer/testis antigen family 47 member A11 Neighboring gene cancer/testis antigen family 47 member A10

    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. Identification of a new cancer/testis gene family, CT47, among expressed multicopy genes on the human X chromosome. Chen YT, et al. Genes Chromosomes Cancer, 2006 Apr. PMID 16382448
    2. A Genome-Wide CRISPR Screen Identifies Genes Critical for Resistance to FLT3 Inhibitor AC220. Hou P, et al. Cancer Res, 2017 Aug 15. PMID 28625976, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    cancer/testis antigen 47A
    Names
    cancer/testis CT47 family, member 12
    cancer/testis antigen 47
    cancer/testis antigen 47A family member

    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_001242922.2 → NP_001229851.1  cancer/testis antigen 47A

      See identical proteins and their annotated locations for NP_001229851.1

      Status: VALIDATED

      Source sequence(s)
      AC008162, AL670379
      Consensus CDS
      CCDS56607.1
      UniProtKB/Swiss-Prot
      Q5JQC4, Q8N747
      UniProtKB/TrEMBL
      A0AAG2UWD2
      Related
      ENSP00000391318.2, ENST00000419982.3
      Conserved Domains (1) summary
      pfam15623
      Location:1 → 263
      CT47; Cancer/testis gene family 47

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      120877490..120932301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029190.2 → XP_016884679.1  cancer/testis antigen 47A isoform X1

      Conserved Domains (1) summary
      pfam15623
      Location:1 → 247
      CT47; Cancer/testis gene family 47

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      119253165..119256487 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328239.1 → XP_054184214.1  cancer/testis antigen 47A isoform X2

      UniProtKB/Swiss-Prot
      Q5JQC4, Q8N747
      UniProtKB/TrEMBL
      A0AAG2UWD2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5JQC4.1 GenPept UniProtKB/Swiss-Prot:Q5JQC4

    Gene LinkOut

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

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    Research Materials