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

Gene ID: 653781, updated on 11-Apr-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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Location:
2q21.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130611078..130658037)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (131044985..131091950)
105.20220307 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
  • 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_2023_10

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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