Aliases for TMEM266 Gene

Aliases for TMEM266 Gene

  • Transmembrane Protein 266 2 3 4 5
  • C15orf27 3 4
  • HTMEM266 3 4
  • HsHVRP1 3 4
  • HVRP1 3 4
  • Chromosome 15 Open Reading Frame 27 2
  • Transmembrane Protein C15orf27 3
  • Hv1 Related Protein 1 3
  • HV1-Related Protein 1 4
  • FLJ38190 2
  • TMEM266 5

External Ids for TMEM266 Gene

Previous HGNC Symbols for TMEM266 Gene

  • C15orf27

Summaries for TMEM266 Gene

GeneCards Summary for TMEM266 Gene

TMEM266 (Transmembrane Protein 266) is a Protein Coding gene. Diseases associated with TMEM266 include Familial Periodic Paralysis and Hypokalemic Periodic Paralysis, Type 1. An important paralog of this gene is TNS3.

UniProtKB/Swiss-Prot Summary for TMEM266 Gene

  • Voltage-sensor protein present on the post-synaptic side of glutamatergic mossy fibers and granule cells in the cerebellum (PubMed:25165868, PubMed:30810529). Despite the presence of a voltage-sensor segment, does not form a functional ion channel and its precise role remains unclear (PubMed:25165868, PubMed:30810529). Undergoes both rapid and slow structural rearrangements in response to changes in voltage (PubMed:30810529). Contains a zinc-binding site that can regulate the slow conformational transition (PubMed:30810529).

Additional gene information for TMEM266 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM266 Gene

Genomics for TMEM266 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM266 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
GH15J076058 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.1 -113 2.4 HNRNPL CTCF TARDBP LARP7 RELA ZIC2 PATZ1 RAD21 IKZF2 ZNF501 TMEM266 lnc-FBXO22-5 NRG4 FBXO22 ENSG00000187812 DNM1P35 lnc-ETFA-2
GH15J076113 Promoter 0.4 EPDnew 600.2 +53.8 53832 0.1 CTCF TMEM266 piR-57133-193 NRG4 lnc-FBXO22-5 LOC101929439 ETFA
GH15J076061 Enhancer 0.2 Ensembl 600.7 +1.6 1588 0.6 TMEM266 lnc-FBXO22-5 NRG4
GH15J076190 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 10.2 +131.1 131099 1.2 CTCF TARDBP ZNF143 RXRB REST RAD21 IRF2 TRIM22 EZH2 GTF2F1 lnc-ETFA-6 SCAPER NRG4 TMEM266 MIR631 LOC101929439 ETFA
GH15J076195 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.2 +138.4 138388 5.8 HNRNPL GATAD2A TFE3 NFKBIZ KDM1A JUND ZIC2 PKNOX1 RXRB IRF2 SCAPER NRG4 TMEM266 ISL2 ETFA TSPAN3 lnc-ETFA-6 ENSG00000196274
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM266 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM266

Genomic Locations for TMEM266 Gene

Genomic Locations for TMEM266 Gene
chr15:76,059,913-76,229,121
(GRCh38/hg38)
Size:
169,209 bases
Orientation:
Plus strand
chr15:76,352,178-76,521,462
(GRCh37/hg19)
Size:
169,285 bases
Orientation:
Plus strand

Genomic View for TMEM266 Gene

Genes around TMEM266 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM266 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM266 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM266 Gene

Proteins for TMEM266 Gene

  • Protein details for TMEM266 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M3C6-TM266_HUMAN
    Recommended name:
    Transmembrane protein 266
    Protein Accession:
    Q2M3C6
    Secondary Accessions:
    • Q8N993
    • Q96LL5

    Protein attributes for TMEM266 Gene

    Size:
    531 amino acids
    Molecular mass:
    58444 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.
    SequenceCaution:
    • Sequence=AAI04954.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI04956.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB71676.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC04562.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM266 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM266 Gene

Post-translational modifications for TMEM266 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM266 Gene

No data available for DME Specific Peptides for TMEM266 Gene

Domains & Families for TMEM266 Gene

Gene Families for TMEM266 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM266 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM266 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein C15orf27 (CO027_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2M3C6

UniProtKB/Swiss-Prot:

TM266_HUMAN :
  • The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position (PubMed:30810529). Transplantation of the transmembrane segment S4 into HVCN1, generates a functional voltage-activated proton channel (PubMed:30810529).
Domain:
  • The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position (PubMed:30810529). Transplantation of the transmembrane segment S4 into HVCN1, generates a functional voltage-activated proton channel (PubMed:30810529).
genes like me logo Genes that share domains with TMEM266: view

Function for TMEM266 Gene

Molecular function for TMEM266 Gene

UniProtKB/Swiss-Prot Function:
Voltage-sensor protein present on the post-synaptic side of glutamatergic mossy fibers and granule cells in the cerebellum (PubMed:25165868, PubMed:30810529). Despite the presence of a voltage-sensor segment, does not form a functional ion channel and its precise role remains unclear (PubMed:25165868, PubMed:30810529). Undergoes both rapid and slow structural rearrangements in response to changes in voltage (PubMed:30810529). Contains a zinc-binding site that can regulate the slow conformational transition (PubMed:30810529).

Phenotypes From GWAS Catalog for TMEM266 Gene

Gene Ontology (GO) - Molecular Function for TMEM266 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015267 NOT channel activity IDA 25165868
GO:0022832 NOT voltage-gated channel activity IEA,IDA 30810529
GO:0042803 protein homodimerization activity IDA 30810529
genes like me logo Genes that share ontologies with TMEM266: view
genes like me logo Genes that share phenotypes with TMEM266: view

Animal Model Products

CRISPR Products

miRNA for TMEM266 Gene

miRTarBase miRNAs that target TMEM266

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM266

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM266 Gene

Localization for TMEM266 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM266 Gene

Cell membrane. Multi-pass membrane protein. Cell projection, dendrite. Perikaryon. Note=Present in the dendrites and soma of cerebellar granule neurons, but not in their axon. {ECO:0000269 PubMed:25165868}.

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 TMEM266 gene
Compartment Confidence
plasma membrane 5
cytosol 4
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM266 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA,IDA --
GO:0005887 integral component of plasma membrane IEA,IDA 25165868
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM266: view

Pathways & Interactions for TMEM266 Gene

PathCards logo

SuperPathways for TMEM266 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM266 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with TMEM266: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM266 Gene

Drugs & Compounds for TMEM266 Gene

No Compound Related Data Available

Transcripts for TMEM266 Gene

mRNA/cDNA for TMEM266 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 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 TMEM266

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM266 Gene

No ASD Table

Relevant External Links for TMEM266 Gene

GeneLoc Exon Structure for
TMEM266

Expression for TMEM266 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM266

mRNA Expression by UniProt/SwissProt for TMEM266 Gene:

Q2M3C6-TM266_HUMAN
Tissue specificity: Mainly expressed in the cerebellum (PubMed:25165868). Also expressed in cerebral cortex, skeletal muscle and thyroid, but at much lower levels (PubMed:25165868).

Evidence on tissue expression from TISSUES for TMEM266 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with TMEM266: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM266 Gene

Orthologs for TMEM266 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM266 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C15H15orf27 30
  • 99.31 (n)
C15orf27 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C21H15orf27 30
  • 88.76 (n)
C15orf27 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1562084 30
  • 88.23 (n)
Mouse
(Mus musculus)
Mammalia AI118078 30 31
  • 87.36 (n)
OneToOne
Tmem266 17
Dog
(Canis familiaris)
Mammalia LOC487670 30
  • 86.27 (n)
C15orf27 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C15orf27 31
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C15orf27 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C15ORF27 30
  • 74.61 (n)
C15orf27 31
  • 72 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C15orf27 31
  • 35 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii zgc:158624 30
  • 68.05 (n)
C25H15orf27 31
  • 60 (a)
OneToOne
Dr.14493 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 25 (a)
OneToOne
Species where no ortholog for TMEM266 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 TMEM266 Gene

ENSEMBL:
Gene Tree for TMEM266 (if available)
TreeFam:
Gene Tree for TMEM266 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM266: view image

Paralogs for TMEM266 Gene

Paralogs for TMEM266 Gene

genes like me logo Genes that share paralogs with TMEM266: view

Variants for TMEM266 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM266 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs937732 - p.Arg391His
rs937733 - p.Pro427Leu

Additional dbSNP identifiers (rs#s) for TMEM266 Gene

Structural Variations from Database of Genomic Variants (DGV) for TMEM266 Gene

Variant ID Type Subtype PubMed ID
dgv2623n100 CNV gain 25217958
dgv2624n100 CNV gain 25217958
dgv2625n100 CNV gain 25217958
dgv2626n100 CNV gain 25217958
esv2660944 CNV deletion 23128226
esv2665159 CNV deletion 23128226
esv2669418 CNV deletion 23128226
esv274972 CNV loss 21479260
esv2749895 CNV deletion 23290073
esv2749898 CNV deletion 23290073
esv3350114 CNV insertion 20981092
esv3552697 CNV deletion 23714750
esv3636935 CNV loss 21293372
esv3636937 CNV loss 21293372
esv3636938 CNV loss 21293372
nsv1048760 CNV gain 25217958
nsv1054713 CNV gain 25217958
nsv1108967 CNV deletion 24896259
nsv1116463 OTHER inversion 24896259
nsv1142180 CNV tandem duplication 24896259
nsv1617 CNV deletion 18451855
nsv569998 CNV gain 21841781
nsv833057 CNV loss 17160897

Variation tolerance for TMEM266 Gene

Residual Variation Intolerance Score: 49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.33; 95.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM266 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM266

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM266 Gene

Disorders for TMEM266 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TMEM266 Gene - From: DISEASES

Disorder Aliases PubMed IDs
familial periodic paralysis
  • genetic periodic paralysis
hypokalemic periodic paralysis, type 1
  • hokpp1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with TMEM266: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM266 Gene

Publications for TMEM266 Gene

  1. Aspartate 112 is the selectivity filter of the human voltage-gated proton channel. (PMID: 22020278) Musset B … Decoursey TE (Nature 2011) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4
  3. TMEM266 is a functional voltage sensor regulated by extracellular Zn2. (PMID: 30810529) Papp F … Swartz KJ (eLife 2019) 3 4
  4. Evidence for functional diversity between the voltage-gated proton channel Hv1 and its closest related protein HVRP1. (PMID: 25165868) Kim IH … Tombola F (PloS one 2014) 3 4
  5. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody MC … Nusbaum C (Nature 2006) 3 4

Products for TMEM266 Gene

  • Biorbyt antibodies for TMEM266

Sources for TMEM266 Gene