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POTEE POTE ankyrin domain family member E [ Homo sapiens (human) ]

Gene ID: 445582, updated on 5-Mar-2024

Summary

Official Symbol
POTEEprovided by HGNC
Official Full Name
POTE ankyrin domain family member Eprovided by HGNC
Primary source
HGNC:HGNC:33895
See related
Ensembl:ENSG00000188219 MIM:608914; AllianceGenome:HGNC:33895
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
A26C1; POTE2; A26C1A; POTE-2; CT104.2; POTE2gamma
Summary
Involved in retina homeostasis and substantia nigra development. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in appendix (RPKM 3.7), lymph node (RPKM 3.5) and 24 other tissues See more
Orthologs
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Genomic context

See POTEE in Genome Data Viewer
Location:
2q21.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (131209536..131265278)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (131643505..131702729)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131967109..132022851)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene neurofibromin 1 pseudogene 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131958317-131958818 Neighboring gene mediator complex subunit 15 pseudogene 8 Neighboring gene RNA, U6 small nuclear 127, pseudogene Neighboring gene uncharacterized LOC440910 Neighboring gene LCR2q21.1 distal recombination region Neighboring gene cytochrome P450 family 4 subfamily F member 31, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:132056470-132056971 Neighboring gene fatty acyl-CoA reductase 2 pseudogene 4 Neighboring gene Kruppel like factor 2 pseudogene 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
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
 
involved_in substantia nigra development HEP PubMed 
Component Evidence Code Pubs
part_of NuA4 histone acetyltransferase complex 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
 
located_in blood microparticle HDA PubMed 
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

Preferred Names
POTE ankyrin domain family member E
Names
ANKRD26-like family C member 1A
cancer/testis antigen family 104, member 2
prostate, ovary, testis-expressed protein on chromosome 2
protein expressed in prostate, ovary, testis, and placenta 2

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_001083538.3NP_001077007.1  POTE ankyrin domain family member E

    See identical proteins and their annotated locations for NP_001077007.1

    Status: VALIDATED

    Source sequence(s)
    AC131180
    Consensus CDS
    CCDS46414.1
    UniProtKB/Swiss-Prot
    Q6S8J3, Q6S8J4, Q6S8J5, Q6S8J8
    Related
    ENSP00000507284.1, ENST00000683005.1
    Conserved Domains (6) summary
    smart00268
    Location:7051075
    ACTIN; Actin
    cd00204
    Location:167292
    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:177269
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:143193
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:238269
    ANK; ANK repeat [structural motif]
    cl17037
    Location:7011075
    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
    131209536..131265278
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444418.1XP_047300374.1  POTE ankyrin domain family member E isoform X1

  2. XM_047444421.1XP_047300377.1  POTE ankyrin domain family member E isoform X4

    UniProtKB/Swiss-Prot
    Q6S8J3, Q6S8J4, Q6S8J5, Q6S8J8
    Related
    ENSP00000439189.1, ENST00000356920.9
  3. XM_047444419.1XP_047300375.1  POTE ankyrin domain family member E isoform X2

  4. XM_047444420.1XP_047300376.1  POTE ankyrin domain family member E isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    131643505..131702729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342144.1XP_054198119.1  POTE ankyrin domain family member E isoform X4

  2. XM_054342142.1XP_054198117.1  POTE ankyrin domain family member E isoform X2

  3. XM_054342143.1XP_054198118.1  POTE ankyrin domain family member E isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001004054.2: Suppressed sequence

    Description
    NM_001004054.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_001005359.1: Suppressed sequence

    Description
    NM_001005359.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  3. NM_001005364.1: Suppressed sequence

    Description
    NM_001005364.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.