Aliases for POTEC Gene

Aliases for POTEC Gene

  • POTE Ankyrin Domain Family Member C 2 3 4 5
  • POTE-18 2 3 4
  • POTE18 2 3 4
  • Prostate, Ovary, Testis-Expressed Protein On Chromosome 18 3 4
  • Cancer/Testis Antigen Family 104, Member 6 2 3
  • ANKRD26-Like Family B Member 2 3 4
  • CT104.6 2 3
  • A26B2 3 4
  • POTE Ankyrin Domain Family, Member C 2
  • ANKRD26-Like Family B, Member 2 2
  • DKFZp686J0529 2
  • POTEC 5

External Ids for POTEC Gene

Previous HGNC Symbols for POTEC Gene

  • A26B2

Previous GeneCards Identifiers for POTEC Gene

  • GC18M014505

Summaries for POTEC Gene

GeneCards Summary for POTEC Gene

POTEC (POTE Ankyrin Domain Family Member C) is a Protein Coding gene. Diseases associated with POTEC include Cycloplegia and Eye Accommodation Disease. An important paralog of this gene is POTEB3.

Additional gene information for POTEC Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POTEC Gene

Genomics for POTEC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POTEC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J014543 Promoter 0.3 EPDnew 600.7 0.0 -18 0.1 POTEC piR-31534-312 ANKRD30B
GH18J014642 Promoter 0.3 EPDnew 600.2 -98.9 -98926 0.1 GTF2IP8 LOC105372004 lnc-POTEC-8 POTEC ANKRD30B
GH18J014430 Promoter/Enhancer 0.8 ENCODE CraniofacialAtlas 0.1 +112.2 112223 1.2 CTCF CTBP1 GABPB1 MAZ MNT ENSG00000286593 LOC105372003 lnc-POTEC-6 POTEC ZNF519
GH18J014450 Promoter 0.6 Ensembl 0.2 +92.6 92599 2 CTCF ZFX ZNF366 LONRF2P1 lnc-POTEC-6 AB372632-005 POTEC ZNF519
GH18J014178 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 0 +364.3 364299 1.8 GATAD2A PRDM10 ZNF629 TFE3 CTCF ZNF692 ZIC2 RXRB PATZ1 RAD21 ANKRD20A5P lnc-MC5R-1 piR-61212-001 ZNF519 POTEC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POTEC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POTEC

Top Transcription factor binding sites by QIAGEN in the POTEC gene promoter:
  • Nkx2-2
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C

Genomic Locations for POTEC Gene

Genomic Locations for POTEC Gene
chr18:14,507,339-14,543,600
(GRCh38/hg38)
Size:
36,262 bases
Orientation:
Minus strand
chr18:14,507,338-14,543,599
(GRCh37/hg19)
Size:
36,262 bases
Orientation:
Minus strand

Genomic View for POTEC Gene

Genes around POTEC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for POTEC Gene

Proteins for POTEC Gene

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

    Protein Symbol:
    B2RU33-POTEC_HUMAN
    Recommended name:
    POTE ankyrin domain family member C
    Protein Accession:
    B2RU33

    Protein attributes for POTEC Gene

    Size:
    542 amino acids
    Molecular mass:
    61188 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI40941.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

neXtProt entry for POTEC Gene

Post-translational modifications for POTEC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POTEC Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POTEC Gene

Domains & Families for POTEC Gene

Gene Families for POTEC Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for POTEC Gene

Suggested Antigen Peptide Sequences for POTEC Gene

GenScript: Design optimal peptide antigens:
  • Prostate, ovary, testis-expressed protein on chromosome 18 (POTEC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

B2RU33

UniProtKB/Swiss-Prot:

POTEC_HUMAN :
  • Belongs to the POTE family.
Family:
  • Belongs to the POTE family.
genes like me logo Genes that share domains with POTEC: view

Function for POTEC Gene

Gene Ontology (GO) - Molecular Function for POTEC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with POTEC: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POTEC

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

Localization for POTEC Gene

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 POTEC gene
Compartment Confidence
nucleus 1
cytosol 1
plasma membrane 0
extracellular 0
mitochondrion 0
peroxisome 0
endoplasmic reticulum 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for POTEC Gene

Pathways & Interactions for POTEC Gene

PathCards logo

SuperPathways for POTEC Gene

No Data Available

Gene Ontology (GO) - Biological Process for POTEC Gene

None

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

Drugs & Compounds for POTEC Gene

No Compound Related Data Available

Transcripts for POTEC Gene

mRNA/cDNA for POTEC Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POTEC

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

No ASD Table

Relevant External Links for POTEC Gene

GeneLoc Exon Structure for
POTEC

Expression for POTEC Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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

This gene is overexpressed in Testis (x50.6).

Protein differential expression in normal tissues from HIPED for POTEC Gene

This gene is overexpressed in Brain (37.0) and Islet of Langerhans (32.0).

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



Protein tissue co-expression partners for POTEC Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POTEC

SOURCE GeneReport for Unigene cluster for POTEC Gene:

Hs.454726

mRNA Expression by UniProt/SwissProt for POTEC Gene:

B2RU33-POTEC_HUMAN
Tissue specificity: Expressed in prostate and testis.
genes like me logo Genes that share expression patterns with POTEC: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for POTEC Gene

Orthologs for POTEC Gene

This gene was present in the common ancestor of chordates.

Orthologs for POTEC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC473909 30
  • 98.51 (n)
POTEC 31
  • 89 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 42 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 37 (a)
ManyToMany
-- 31
  • 11 (a)
ManyToMany
-- 31
  • 8 (a)
ManyToMany
-- 31
  • 7 (a)
ManyToMany
-- 31
  • 4 (a)
ManyToMany
-- 31
  • 2 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Gm1758 31
  • 35 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 5 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 3 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 9 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 36 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii ANKRD7 31
  • 5 (a)
OneToMany
Species where no ortholog for POTEC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for POTEC Gene

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

Paralogs for POTEC Gene

(24) SIMAP similar genes for POTEC Gene using alignment to 2 proteins:

  • POTEC_HUMAN
  • D7UEQ8_HUMAN
genes like me logo Genes that share paralogs with POTEC: view

Variants for POTEC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POTEC Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs12454500 - p.Met166Ile
rs28535987 - p.Thr3Ala
rs45469098 - p.His86Asp
rs45488295 - p.Ala10Thr
rs45554841 - p.Cys72Tyr

Additional dbSNP identifiers (rs#s) for POTEC Gene

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

Variant ID Type Subtype PubMed ID
dgv1860e59 CNV duplication 20981092
dgv1861e59 CNV duplication 20981092
dgv1862e59 CNV duplication 20981092
dgv1863e59 CNV duplication 20981092
esv22403 CNV gain+loss 19812545
esv2656459 CNV deletion 23128226
esv2758715 CNV gain 17122850
esv3327481 CNV duplication 20981092
esv3363162 CNV duplication 20981092
esv3375784 CNV duplication 20981092
esv3401517 CNV duplication 20981092
esv3429825 CNV duplication 20981092
esv3641900 CNV loss 21293372
nsv510732 CNV deletion 20534489
nsv514861 CNV gain 21397061
nsv576531 CNV gain 21841781
nsv819182 CNV insertion 19587683
nsv833593 CNV gain 17160897
nsv960672 CNV duplication 23825009
nsv9615 CNV gain+loss 18304495
nsv962898 CNV duplication 23825009
nsv962899 CNV duplication 23825009
nsv978611 CNV duplication 23825009
nsv978651 CNV duplication 23825009

Variation tolerance for POTEC Gene

Residual Variation Intolerance Score: 89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.90; 74.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POTEC Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for POTEC Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cycloplegia
  • ciliary muscle paresis
eye accommodation disease
- elite association - COSMIC cancer census association via MalaCards
Search POTEC in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with POTEC: view

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

Publications for POTEC Gene

  1. POTE, a highly homologous gene family located on numerous chromosomes and expressed in prostate, ovary, testis, placenta, and prostate cancer. (PMID: 12475935) Bera TK … Pastan I (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  3. DNA sequence and analysis of human chromosome 18. (PMID: 16177791) Nusbaum C … Lander ES (Nature 2005) 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for POTEC Gene

Sources for POTEC Gene