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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
  • 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 and Dubowitz Syndrome. An important paralog of this gene is POTEE.

No data available for Entrez Gene 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

Promoters for POTEF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001827141 -478 2600 TBP SAP130 NFYC ARID4B MNT THRB POLR2A IKZF1 ZNF512

Genomic Location for POTEF Gene

130,073,479 bp from pter
130,129,222 bp from pter
55,744 bases
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:
    Recommended name:
    POTE ankyrin domain family member F
    Protein Accession:
    Secondary Accessions:
    • A6NC34

    Protein attributes for POTEF Gene

    1075 amino acids
    Molecular mass:
    121445 Da
    Quaternary structure:
    No Data Available
    • 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 Lys 114 and Lys 116
  • 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

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



  • In the N-terminal section; belongs to the POTE family.
  • Contains 5 ANK repeats.
  • In the N-terminal section; belongs to the POTE family.
  • In the C-terminal section; belongs to the actin family.
  • Contains 5 ANK repeats.
genes like me logo Genes that share domains with POTEF: view

Function for POTEF Gene

Animal Model Products

miRNA for POTEF Gene

miRTarBase miRNAs that target POTEF

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

Jensen Localization Image for POTEF Gene COMPARTMENTS Subcellular localization image for POTEF gene
Compartment Confidence
extracellular 5
cytosol 4
nucleus 4
cytoskeleton 3
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 2
plasma membrane 2
lysosome 1
peroxisome 1
vacuole 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

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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for POTEF Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for POTEF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:


SOURCE GeneReport for Unigene cluster for POTEF Gene:


mRNA Expression by UniProt/SwissProt for POTEF Gene:

Tissue specificity: Expressed in breast cancer cell lines (at protein level).
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 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
(Pan troglodytes)
Mammalia POTEF 34
  • 98.36 (n)
-- 35
  • 98 (a)
(Rattus norvegicus)
Mammalia LOC100361457 34
  • 85.24 (n)
(Canis familiaris)
Mammalia -- 35
  • 41 (a)
-- 35
  • 38 (a)
-- 35
  • 37 (a)
-- 35
  • 13 (a)
-- 35
  • 11 (a)
-- 35
  • 10 (a)
-- 35
  • 10 (a)
-- 35
  • 8 (a)
(Monodelphis domestica)
Mammalia -- 35
  • 38 (a)
(Mus musculus)
Mammalia Poteg 35
  • 23 (a)
(Bos Taurus)
Mammalia -- 35
  • 10 (a)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 8 (a)
(Gallus gallus)
Aves ACTBL2 34
  • 74.6 (n)
-- 35
  • 12 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 37 (a)
(Danio rerio)
Actinopterygii zgc:86725 34
  • 78.43 (n)
  • 8 (a)
fruit fly
(Drosophila melanogaster)
Insecta Act88F 34
  • 82.44 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001676 34
  • 77.99 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ACT3 34
  • 72.74 (n)
(Oryza sativa)
Liliopsida Os03g0836000 34
  • 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

Gene Tree for POTEF (if available)
Gene Tree for POTEF (if available)

Paralogs for POTEF Gene 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
rs10168098 -- 130,108,588(+) ACCCA(A/G)TGCGT intron-variant, upstream-variant-2KB
rs10179679 -- 130,122,832(+) cagat(A/G)acagt intron-variant
rs10183148 -- 130,117,781(+) TGGAA(C/T)TGATG intron-variant
rs10191331 -- 130,117,697(+) TATAT(A/G)GGTTC intron-variant
rs1020551 -- 130,128,369(-) CGGGT(A/G)ACTCT intron-variant, upstream-variant-2KB

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

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

Disorders for POTEF Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
baraitser-winter syndrome
  • brws
dubowitz syndrome
  • dubowitz's syndrome
- 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:
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. (Proc. Natl. Acad. Sci. U.S.A. 2006) 2 3 4 64
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (PMID: 26460568) Johnson-Kerner B.L. … Wichterle H. (PLoS ONE 2015) 3 64
  5. RSPO-LGR4 functions via IQGAP1 to potentiate Wnt signaling. (PMID: 24639526) Carmon K.S. … Liu Q. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3 64

Products for POTEF Gene

Sources for POTEF Gene

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