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    POTEJ POTE ankyrin domain family member J [ Homo sapiens (human) ]

    Gene ID: 653781, updated on 17-Sep-2024

    Summary

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    Official Symbol
    POTEJprovided by HGNC
    Official Full Name
    POTE ankyrin domain family member Jprovided by HGNC
    Primary source
    HGNC:HGNC:37094
    See related
    Ensembl:ENSG00000222038 AllianceGenome:HGNC:37094
    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
    POTE2beta
    Summary
    Involved in retina homeostasis. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 3.1), prostate (RPKM 1.6) and 3 other tissues See more
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    Genomic context

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    See POTEJ in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130611078..130658037)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (131044985..131091950)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131369013..131415610)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131333984-131334654 Neighboring gene serine protease 40A (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131340236-131340736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131350757-131351257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131355418-131355918 Neighboring gene cryptic, EGF-CFC family member 1 Neighboring gene RNA, U6 small nuclear 848, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131422411-131422912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131422913-131423412 Neighboring gene cytochrome P450 family 4 subfamily F member 30, pseudogene Neighboring gene LCR2q21.1 proximal recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131451031-131451531 Neighboring gene fatty acyl-CoA reductase 2 pseudogene 3 Neighboring gene Kruppel like factor 2 pseudogene 3

    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. Discovery of a long inverted repeat in human POTE genes. Wang Y, et al. Genomics, 2009 Oct. PMID 19463943
    2. POTE paralogs are induced and differentially expressed in many cancers. Bera TK, et al. Cancer Res, 2006 Jan 1. PMID 16397215
    3. Selective POTE paralogs on chromosome 2 are expressed in human embryonic stem cells. Bera TK, et al. Stem Cells Dev, 2008 Apr. PMID 18447647, Free PMC Article
    4. Evolution and expression of chimeric POTE-actin genes in the human genome. Lee Y, et al. Proc Natl Acad Sci U S A, 2006 Nov 21. PMID 17101985, Free PMC Article
    5. 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

    See all (38) citations in PubMed

    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)

    Genotypes

    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

    Function Evidence Code Pubs
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of postsynaptic actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in axonogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in postsynaptic actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of NuA4 histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    POTE ankyrin domain family member J

    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_001277083.2 → NP_001264012.1  POTE ankyrin domain family member J

      See identical proteins and their annotated locations for NP_001264012.1

      Status: VALIDATED

      Source sequence(s)
      AC140481
      Consensus CDS
      CCDS59432.1
      UniProtKB/Swiss-Prot
      P0CG39
      Related
      ENSP00000387176.1, ENST00000409602.2
      Conserved Domains (6) summary
      smart00268
      Location:668 → 1038
      ACTIN; Actin
      cd00204
      Location:130 → 255
      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:140 → 232
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:106 → 156
      Ank_4; Ankyrin repeats (many copies)
      sd00045
      Location:201 → 232
      ANK; ANK repeat [structural motif]
      cl17037
      Location:664 → 1038
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      130611078..130658037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004741.3 → XP_016860230.1  POTE ankyrin domain family member J isoform X1

      Conserved Domains (5) summary
      smart00268
      Location:678 → 1048
      ACTIN; Actin
      cd00204
      Location:130 → 265
      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:216 → 308
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:211 → 242
      ANK; ANK repeat [structural motif]
      cl17037
      Location:674 → 1048
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    2. XM_017004742.2 → XP_016860231.1  POTE ankyrin domain family member J isoform X2

    3. XM_017004743.3 → XP_016860232.1  POTE ankyrin domain family member J isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      131044985..131091950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343492.1 → XP_054199467.1  POTE ankyrin domain family member J isoform X1

    2. XM_054343493.1 → XP_054199468.1  POTE ankyrin domain family member J isoform X2

    3. XM_054343494.1 → XP_054199469.1  POTE ankyrin domain family member J isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CG39.1 GenPept UniProtKB/Swiss-Prot:P0CG39

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