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Aliases for POTEF Gene

Aliases for POTEF Gene

  • POTE Ankyrin Domain Family Member F 2 3 5
  • ANKRD26-Like Family C Member 1B 3 4
  • Chimeric POTE-Actin Protein 3 4
  • A26C1B 3 4
  • Prostate, Ovary, Testis Expressed Protein On Chromosome 2 3
  • POTE Ankyrin Domain Family, Member F 2
  • ANKRD26-Like Family C, Member 1B 2
  • POTE-2 Alpha-Actin 3
  • Beta Actin 3
  • POTE2alpha 3
  • POTEACTIN 3
  • ACTB 3

External Ids for POTEF Gene

Previous HGNC Symbols for POTEF Gene

  • A26C1B

Previous GeneCards Identifiers for POTEF Gene

  • GC02M130558
  • GC02M130831

Summaries for POTEF Gene

GeneCards Summary for POTEF Gene

POTEF (POTE Ankyrin Domain Family Member F) is a Protein Coding gene. Diseases associated with POTEF include Baraitser-Winter Syndrome. An important paralog of this gene is POTEE.

Additional gene information for POTEF Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POTEF Gene

Genomics for POTEF Gene

Regulatory Elements for POTEF Gene


Genomic Location for POTEF Gene

Chromosome:
2
Start:
130,073,479 bp from pter
End:
130,129,222 bp from pter
Size:
55,744 bases
Orientation:
Minus strand

Genomic View for POTEF Gene

Genes around POTEF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POTEF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POTEF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POTEF Gene

Proteins for POTEF Gene

  • Protein details for POTEF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A5A3E0-POTEF_HUMAN
    Recommended name:
    POTE ankyrin domain family member F
    Protein Accession:
    A5A3E0
    Secondary Accessions:
    • A6NC34

    Protein attributes for POTEF Gene

    Size:
    1075 amino acids
    Molecular mass:
    121445 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Results from the insertion of a beta-actin fragment at the C-terminus in the POTEE paralog gene leading to the formation of a new functional chimeric protein. This insertion occured before the divergence of the Old World monkeys and apes.

neXtProt entry for POTEF Gene

Post-translational modifications for POTEF Gene

  • Ubiquitination at Lys114 and posLast=116116
  • Modification sites at PhosphoSitePlus

Other Protein References for POTEF Gene

No data available for DME Specific Peptides for POTEF Gene

Domains & Families for POTEF Gene

Gene Families for POTEF Gene

Protein Domains for POTEF Gene

Suggested Antigen Peptide Sequences for POTEF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A5A3E0

UniProtKB/Swiss-Prot:

POTEF_HUMAN :
  • In the N-terminal section; belongs to the POTE family.
Family:
  • In the N-terminal section; belongs to the POTE family.
  • In the C-terminal section; belongs to the actin family.
genes like me logo Genes that share domains with POTEF: view

Function for POTEF Gene

Animal Model Products

CRISPR Products

miRNA for POTEF Gene

miRTarBase miRNAs that target POTEF

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POTEF
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POTEF Gene

Localization for POTEF Gene

Subcellular locations from UniProtKB/Swiss-Prot for POTEF Gene

Cytoplasm, cell cortex. Note=Colocalizes with actin filaments.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POTEF gene
Compartment Confidence
extracellular 5
nucleus 3
cytosol 3
cytoskeleton 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for POTEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005737 cytoplasm IEA --
GO:0005938 cell cortex IEA --
GO:0070062 extracellular exosome IDA 23533145
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with POTEF: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for POTEF Gene

Pathways & Interactions for POTEF Gene

SuperPathways for POTEF Gene

No Data Available

Interacting Proteins for POTEF Gene

Gene Ontology (GO) - Biological Process for POTEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IEP 23580065
genes like me logo Genes that share ontologies with POTEF: view

No data available for Pathways by source and SIGNOR curated interactions for POTEF Gene

Drugs & Compounds for POTEF Gene

No Compound Related Data Available

Transcripts for POTEF Gene

mRNA/cDNA for POTEF Gene

(4) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for POTEF Gene

POTE ankyrin domain family, member F:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POTEF
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for POTEF Gene

No ASD Table

Relevant External Links for POTEF Gene

GeneLoc Exon Structure for
POTEF
ECgene alternative splicing isoforms for
POTEF

Expression for POTEF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POTEF Gene

mRNA differential expression in normal tissues according to GTEx for POTEF Gene

This gene is overexpressed in Testis (x36.8).

Protein differential expression in normal tissues from HIPED for POTEF Gene

This gene is overexpressed in Saliva (23.1), Heart (15.8), Brain (12.5), and Skin (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POTEF Gene



Protein tissue co-expression partners for POTEF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POTEF Gene:

POTEF

SOURCE GeneReport for Unigene cluster for POTEF Gene:

Hs.580547

mRNA Expression by UniProt/SwissProt for POTEF Gene:

A5A3E0-POTEF_HUMAN
Tissue specificity: Expressed in breast cancer cell lines (at protein level).

Evidence on tissue expression from TISSUES for POTEF Gene

  • Intestine(2)
genes like me logo Genes that share expression patterns with POTEF: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for POTEF Gene

Orthologs for POTEF Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POTEF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POTEF 33
  • 98.36 (n)
-- 34
  • 98 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC100361457 33
  • 85.24 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 41 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
-- 34
  • 13 (a)
ManyToMany
-- 34
  • 11 (a)
ManyToMany
-- 34
  • 10 (a)
ManyToMany
-- 34
  • 10 (a)
ManyToMany
-- 34
  • 8 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 38 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Poteg 34
  • 23 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 10 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 8 (a)
OneToMany
chicken
(Gallus gallus)
Aves ACTBL2 33
  • 74.6 (n)
-- 34
  • 12 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 37 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii zgc:86725 33
  • 78.43 (n)
ANKRD7 34
  • 8 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Act88F 33
  • 82.44 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001676 33
  • 77.99 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACT1 33
  • 72.74 (n)
rice
(Oryza sativa)
Liliopsida Os03g0836000 33
  • 73.1 (n)
Species where no ortholog for POTEF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POTEF Gene

ENSEMBL:
Gene Tree for POTEF (if available)
TreeFam:
Gene Tree for POTEF (if available)

Paralogs for POTEF Gene

Pseudogenes.org Pseudogenes for POTEF Gene

genes like me logo Genes that share paralogs with POTEF: view

Variants for POTEF Gene

Sequence variations from dbSNP and Humsavar for POTEF Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000077081 -- 130,121,778(+) TATTT(C/T)TTAAC intron-variant, upstream-variant-2KB
rs1000204641 -- 130,102,473(+) TTCTC(C/T)ACTTC intron-variant
rs1000337861 -- 130,108,935(+) CATGG(A/G)AGACC intron-variant, upstream-variant-2KB
rs1000554400 -- 130,122,261(+) TTGCT(-/ATAA)ATACT intron-variant, upstream-variant-2KB
rs1000770102 -- 130,110,523(+) CTAGC(C/T)TTTTA intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for POTEF Gene

Variant ID Type Subtype PubMed ID
dgv1169e212 CNV loss 25503493
dgv2032n106 OTHER inversion 24896259
dgv4072n100 CNV loss 25217958
dgv4073n100 CNV gain 25217958
esv2751826 CNV gain 17911159
esv2759092 CNV gain+loss 17122850
esv2760631 CNV gain+loss 21179565
esv2763387 CNV loss 21179565
esv3584061 CNV loss 25503493
esv3584065 CNV loss 25503493
esv3584069 CNV loss 25503493
esv3592438 CNV loss 21293372
esv3592439 CNV gain 21293372
esv3893326 CNV gain 25118596
nsv1001337 CNV loss 25217958
nsv1008911 CNV gain 25217958
nsv1011360 CNV loss 25217958
nsv10160 CNV gain+loss 18304495
nsv10163 CNV loss 18304495
nsv10164 CNV loss 18304495
nsv428403 CNV loss 18775914
nsv459274 CNV loss 19166990
nsv583046 CNV loss 21841781
nsv7327 OTHER inversion 18451855
nsv821629 CNV loss 15273396
nsv834374 CNV gain 17160897
nsv834375 CNV loss 17160897
nsv953161 CNV deletion 24416366
nsv961881 CNV duplication 23825009
nsv961882 CNV duplication 23825009
nsv962004 CNV duplication 23825009
nsv962005 CNV duplication 23825009
nsv998333 CNV gain+loss 25217958

Variation tolerance for POTEF Gene

Residual Variation Intolerance Score: 90.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.24; 76.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POTEF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POTEF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POTEF Gene

Disorders for POTEF Gene

MalaCards: The human disease database

(1) MalaCards diseases for POTEF Gene - From: DISEASES

Disorder Aliases PubMed IDs
baraitser-winter syndrome
  • brws
- elite association - COSMIC cancer census association via MalaCards
Search POTEF in MalaCards View complete list of genes associated with diseases

Relevant External Links for POTEF

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POTEF
genes like me logo Genes that share disorders with POTEF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POTEF Gene

Publications for POTEF Gene

  1. Evolution and expression of chimeric POTE-actin genes in the human genome. (PMID: 17101985) Lee Y … Pastan I (Proceedings of the National Academy of Sciences of the United States of America 2006) 2 3 4 60
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60
  5. Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (PMID: 26460568) Johnson-Kerner BL … Wichterle H (PloS one 2015) 3 60

Products for POTEF Gene

Sources for POTEF Gene

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