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    POTED POTE ankyrin domain family member D [ Homo sapiens (human) ]

    Gene ID: 317754, updated on 10-Dec-2024

    Summary

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    Official Symbol
    POTEDprovided by HGNC
    Official Full Name
    POTE ankyrin domain family member Dprovided by HGNC
    Primary source
    HGNC:HGNC:23822
    See related
    Ensembl:ENSG00000166351 MIM:607549; AllianceGenome:HGNC:23822
    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
    POTE; A26B3; POTE21; ANKRD21; CT104.1; POTE-21
    Summary
    Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 4.0) See more
    Orthologs
    all
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    Genomic context

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    See POTED in Genome Data Viewer
    Location:
    21q11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (13609777..13645823)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (11954085..11990156)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (14982098..15018144)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1674 Neighboring gene olfactory receptor family 4 subfamily K member 12 pseudogene Neighboring gene RNA, U6 small nuclear 286, pseudogene Neighboring gene microRNA 3118-1 Neighboring gene GRAM domain containing 4 pseudogene 1 Neighboring gene CXADR pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. POTE protein, a cancer-testis antigen, is highly expressed in spermatids in human testis and is associated with apoptotic cells. Bera TK, et al. Biochem Biophys Res Commun, 2012 Jan 27. PMID 22234308, Free PMC Article
    2. Expression of POTE protein in human testis detected by novel monoclonal antibodies. Ise T, et al. Biochem Biophys Res Commun, 2008 Jan 25. PMID 17996727, Free PMC Article
    3. Five POTE paralogs and their splice variants are expressed in human prostate and encode proteins of different lengths. Bera TK, et al. Gene, 2004 Aug 4. PMID 15276201
    4. Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains. Hahn Y, et al. Gene, 2006 Feb 1. PMID 16364570
    5. 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

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study suggests POTE may have a role in apoptosis in the human testis.
      Title: POTE protein, a cancer-testis antigen, is highly expressed in spermatids in human testis and is associated with apoptotic cells.
    2. By immunohistochemistry we demonstrated that the POTE protein is expressed in primary spermatocytes, implying a role in spermatogenesis.
      Title: Expression of POTE protein in human testis detected by novel monoclonal antibodies.
    3. POTE protein isoforms were characterized and may have important signaling function in the reproductive system.
      Title: Five POTE paralogs and their splice variants are expressed in human prostate and encode proteins of different lengths.
    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

    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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    Homology

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    POTE ankyrin domain family member D
    Names
    ANKRD26-like family B member 3
    Expressed in prostate, ovary, testis, and placenta
    ankyrin repeat domain 21
    ankyrin repeat domain-containing protein 21
    cancer/testis antigen family 104, member 1
    prostate, ovary, testis-expressed protein

    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_174981.6 → NP_778146.2  POTE ankyrin domain family member D

      See identical proteins and their annotated locations for NP_778146.2

      Status: VALIDATED

      Source sequence(s)
      AP001465
      Consensus CDS
      CCDS13562.1
      UniProtKB/Swiss-Prot
      C9JCF7, Q86YR6
      UniProtKB/TrEMBL
      A0A087X187
      Related
      ENSP00000299443.5, ENST00000299443.6
      Conserved Domains (5) summary
      cd00204
      Location:167 → 292
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      TIGR04211
      Location:440 → 556
      SH3_and_anchor; SH3 domain protein
      pfam12796
      Location:177 → 269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:143 → 193
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:174 → 203
      ANK; ANK repeat [structural motif]

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      13609777..13645823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723997.4 → XP_006724060.1  POTE ankyrin domain family member D isoform X1

      See identical proteins and their annotated locations for XP_006724060.1

      UniProtKB/TrEMBL
      D7UEQ8
      Conserved Domains (4) summary
      cd00204
      Location:167 → 292
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:177 → 269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:143 → 193
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:174 → 203
      ANK; ANK repeat [structural motif]

    2. XM_011529550.3 → XP_011527852.1  POTE ankyrin domain family member D isoform X2

      UniProtKB/TrEMBL
      A0A087X1W7
      Related
      ENSP00000484512.1, ENST00000620442.4
      Conserved Domains (4) summary
      cd00204
      Location:167 → 292
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:177 → 269
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:143 → 193
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:174 → 203
      ANK; ANK repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      11954085..11990156
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324459.1 → XP_054180434.1  POTE ankyrin domain family member D isoform X1

      UniProtKB/TrEMBL
      D7UEQ8

    2. XM_054324460.1 → XP_054180435.1  POTE ankyrin domain family member D isoform X2

      UniProtKB/TrEMBL
      A0A087X1W7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YR6.2 GenPept UniProtKB/Swiss-Prot:Q86YR6

    Gene LinkOut

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

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