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    POTEC POTE ankyrin domain family member C [ Homo sapiens (human) ]

    Gene ID: 388468, updated on 17-Sep-2024

    Summary

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    Official Symbol
    POTECprovided by HGNC
    Official Full Name
    POTE ankyrin domain family member Cprovided by HGNC
    Primary source
    HGNC:HGNC:33894
    See related
    Ensembl:ENSG00000183206 AllianceGenome:HGNC:33894
    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
    A26B2; POTE18; CT104.6; POTE-18
    Expression
    Restricted expression toward testis (RPKM 4.1) See more
    Orthologs
    all
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    Genomic context

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    See POTEC in Genome Data Viewer
    Location:
    18p11.21
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (14507339..14543600, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (14670242..14706527, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (14507338..14543599, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr18:14458017-14458177 Neighboring gene LONRF2 pseudogene 1 Neighboring gene CXADR pseudogene 3 Neighboring gene GRAM domain containing 4 pseudogene 7 Neighboring gene RNA, U6 small nuclear 1021, pseudogene Neighboring gene uncharacterized LOC105372004 Neighboring gene olfactory receptor family 4 subfamily K member 7 pseudogene Neighboring gene olfactory receptor family 4 subfamily K member 8 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. POTE, a highly homologous gene family located on numerous chromosomes and expressed in prostate, ovary, testis, placenta, and prostate cancer. Bera TK, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12475935, Free PMC Article
    2. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    3. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    4. 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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • DKFZp686J0529

    General protein information

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    Preferred Names
    POTE ankyrin domain family member C
    Names
    ANKRD26-like family B member 2
    cancer/testis antigen family 104, member 6
    prostate, ovary, testis-expressed protein on chromosome 18

    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_001137671.2 → NP_001131143.1  POTE ankyrin domain family member C isoform 1

      See identical proteins and their annotated locations for NP_001131143.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AP006261
      Consensus CDS
      CCDS45835.1
      UniProtKB/Swiss-Prot
      B2RU33
      UniProtKB/TrEMBL
      A0A087X187
      Related
      ENSP00000351856.5, ENST00000358970.10
      Conserved Domains (3) summary
      PHA03095
      Location:222 → 349
      PHA03095; ankyrin-like protein; Provisional
      sd00045
      Location:238 → 269
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:143 → 236
      Ank_2; Ankyrin repeats (3 copies)

    RNA

    1. NR_134878.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK307658, AP006261, BX649118
      Related
      ENST00000511306.5

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      14507339..14543600 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      14670242..14706527 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B2RU33.2 GenPept UniProtKB/Swiss-Prot:B2RU33

    Gene LinkOut

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

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