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Aliases for TMEM270 Gene

Aliases for TMEM270 Gene

  • Transmembrane Protein 270 2 3
  • Williams-Beuren Syndrome Chromosome Region 28 2 3 5
  • WBSCR28 3 4 5
  • Williams-Beuren Syndrome Chromosomal Region 28 Protein 3
  • Williams-Beuren Syndrome Critical Region 28 3

External Ids for TMEM270 Gene

Previous HGNC Symbols for TMEM270 Gene

  • WBSCR28

Summaries for TMEM270 Gene

GeneCards Summary for TMEM270 Gene

TMEM270 (Transmembrane Protein 270) is a Protein Coding gene. Diseases associated with TMEM270 include Williams-Beuren Syndrome.

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 TMEM270 Gene

Genomics for TMEM270 Gene

Regulatory Elements for TMEM270 Gene

Enhancers for TMEM270 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G073825 1.6 Ensembl ENCODE dbSUPER 13.2 -31.2 -31223 8.4 HDGF PKNOX1 FOXA2 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B METTL27 TMEM270 BUD23 DNAJC30 VPS37D ABHD11-AS1 ABHD11 GC07P073835 CLDN4
GH07G073838 0.9 ENCODE dbSUPER 13.3 -22.3 -22293 1.1 SOX5 CBX3 ZFP64 NR2F1 ZMYM3 NCOR1 ADNP RCOR2 ZNF580 NR2F6 METTL27 TMEM270 VPS37D GC07P073835
GH07G073840 0.7 ENCODE dbSUPER 13.3 -20.9 -20934 0.2 CTCF PCBP1 TMEM270 VPS37D GC07P073835 METTL27
GH07G073834 0.2 dbSUPER 13.2 -26.4 -26445 0.5 METTL27 TMEM270 VPS37D GC07P073835 CLDN4
GH07G073849 1.9 FANTOM5 Ensembl ENCODE dbSUPER 0.4 -10.2 -10204 3.9 PKNOX1 ARNT SIN3A FEZF1 ZNF766 FOS DEK ZNF263 SP3 JUNB METTL27 ELN BUD23 DNAJC30 VPS37D BCL7B GC07M073847 TMEM270
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM270 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM270 Gene

Chromosome:
7
Start:
73,861,159 bp from pter
End:
73,865,894 bp from pter
Size:
4,736 bases
Orientation:
Plus strand

Genomic View for TMEM270 Gene

Genes around TMEM270 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM270 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM270 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM270 Gene

Proteins for TMEM270 Gene

  • Protein details for TMEM270 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UE05-WBS28_HUMAN
    Recommended name:
    Williams-Beuren syndrome chromosomal region 28 protein
    Protein Accession:
    Q6UE05
    Secondary Accessions:
    • Q6UE04
    • Q8NHP4

    Protein attributes for TMEM270 Gene

    Size:
    265 amino acids
    Molecular mass:
    29433 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ74836.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM270 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM270 Gene

Post-translational modifications for TMEM270 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMEM270 Gene

No data available for DME Specific Peptides for TMEM270 Gene

Domains & Families for TMEM270 Gene

Protein Domains for TMEM270 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM270 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMEM270: view

No data available for Gene Families and UniProtKB/Swiss-Prot for TMEM270 Gene

Function for TMEM270 Gene

genes like me logo Genes that share phenotypes with TMEM270: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TMEM270 Gene

Localization for TMEM270 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM270 Gene

Membrane; Multi-pass membrane protein.

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 TMEM270 gene
Compartment Confidence
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for TMEM270 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM270: view

Pathways & Interactions for TMEM270 Gene

SuperPathways for TMEM270 Gene

No Data Available

Interacting Proteins for TMEM270 Gene

Selected Interacting proteins: Q6UE05-WBS28_HUMAN for TMEM270 Gene via IID

Symbol External ID(s) Details
BAG3

Gene Ontology (GO) - Biological Process for TMEM270 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM270 Gene

Drugs & Compounds for TMEM270 Gene

No Compound Related Data Available

Transcripts for TMEM270 Gene

mRNA/cDNA for TMEM270 Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEM270 Gene

Williams-Beuren syndrome chromosome region 28:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM270 Gene

No ASD Table

Relevant External Links for TMEM270 Gene

GeneLoc Exon Structure for
TMEM270
ECgene alternative splicing isoforms for
TMEM270

Expression for TMEM270 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM270 Gene:

TMEM270

SOURCE GeneReport for Unigene cluster for TMEM270 Gene:

Hs.647026
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM270 Gene

Orthologs for TMEM270 Gene

This gene was present in the common ancestor of mammals.

Orthologs for TMEM270 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WBSCR28 35 34
  • 98.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia WBSCR28 35 34
  • 75.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WBSCR28 35 34
  • 75.22 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Wbscr28 35 16 34
  • 67.43 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wbscr28 34
  • 67.18 (n)
Species where no ortholog for TMEM270 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TMEM270 Gene

ENSEMBL:
Gene Tree for TMEM270 (if available)
TreeFam:
Gene Tree for TMEM270 (if available)

Paralogs for TMEM270 Gene

No data available for Paralogs for TMEM270 Gene

Variants for TMEM270 Gene

Sequence variations from dbSNP and Humsavar for TMEM270 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000812234 -- 73,863,336(+) CATCT(C/T)AGTGA intron-variant
rs1000926661 -- 73,863,550(+) ATGCC(A/C)AGCTA intron-variant
rs1001155658 -- 73,864,617(+) GGGGT(G/T)CCTGG intron-variant
rs1001268503 -- 73,864,882(+) TGGGC(A/G)ACAAG intron-variant
rs1003006796 -- 73,860,404(+) GGCCA(A/T)CACGA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TMEM270 Gene

Variant ID Type Subtype PubMed ID
nsv831029 CNV loss 17160897

Variation tolerance for TMEM270 Gene

Residual Variation Intolerance Score: 90.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.77; 47.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM270 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM270

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM270 Gene

Disorders for TMEM270 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM270 Gene - From: GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM270

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM270
genes like me logo Genes that share disorders with TMEM270: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM270 Gene

Publications for TMEM270 Gene

  1. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. (PMID: 8812460) Osborne L.R. … Tsui L.-C. (Genomics 1996) 2 3 64
  2. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PMID: 23824909) Chen Y. … Ge F. (Mol. Cell Proteomics 2013) 3 64
  3. Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. (PMID: 18398435) Micale L. … Reymond A. (Eur. J. Hum. Genet. 2008) 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 4 64

Products for TMEM270 Gene

Sources for TMEM270 Gene

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