Aliases for TMEM217 Gene

Aliases for TMEM217 Gene

  • Transmembrane Protein 217 2 3 4 5
  • DJ355M6.2 2 3
  • C6orf128 3 4
  • Chromosome 6 Open Reading Frame 128 2
  • TMEM217 5

External Ids for TMEM217 Gene

Previous HGNC Symbols for TMEM217 Gene

  • C6orf128

Previous GeneCards Identifiers for TMEM217 Gene

  • GC06M037288
  • GC06M037179
  • GC06M036898
  • GC06M038974
  • GC06M039793
  • GC06M039972
  • GC06M041306
  • GC06M037317
  • GC06M037389
  • GC06M037742
  • GC06M038088
  • GC06M038477
  • GC06M038823
  • GC06M042234
  • GC06M043494

Summaries for TMEM217 Gene

GeneCards Summary for TMEM217 Gene

TMEM217 (Transmembrane Protein 217) is a Protein Coding gene. An important paralog of this gene is ENSG00000286105.

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 TMEM217 Gene

Genomics for TMEM217 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM217 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM217 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM217

Top Transcription factor binding sites by QIAGEN in the TMEM217 gene promoter:
  • Cart-1
  • Nkx2-5
  • POU3F1
  • RORalpha2
  • TBP
  • TFIID

Genomic Locations for TMEM217 Gene

Latest Assembly
chr6:37,212,178-37,259,034
(GRCh38/hg38)
Size:
46,857 bases
Orientation:
Minus strand

Previous Assembly
chr6:37,179,957-37,225,920
(GRCh37/hg19 by Entrez Gene)
Size:
45,964 bases
Orientation:
Minus strand

chr6:37,179,956-37,225,931
(GRCh37/hg19 by Ensembl)
Size:
45,976 bases
Orientation:
Minus strand

Genomic View for TMEM217 Gene

Genes around TMEM217 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM217 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM217 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM217 Gene

Proteins for TMEM217 Gene

  • Protein details for TMEM217 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N7C4-TM217_HUMAN
    Recommended name:
    Transmembrane protein 217
    Protein Accession:
    Q8N7C4
    Secondary Accessions:
    • Q8TC54

    Protein attributes for TMEM217 Gene

    Size:
    229 amino acids
    Molecular mass:
    26582 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM217 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM217 Gene

Post-translational modifications for TMEM217 Gene

  • Glycosylation at Asn39 and Asn156

No data available for DME Specific Peptides for TMEM217 Gene

Domains & Families for TMEM217 Gene

Gene Families for TMEM217 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM217 Gene

InterPro:

Suggested Antigen Peptide Sequences for TMEM217 Gene

GenScript: Design optimal peptide antigens:
  • TMEM217 protein (Q8N0U3_HUMAN)
  • Transmembrane protein 217 (TM217_HUMAN)
genes like me logo Genes that share domains with TMEM217: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TMEM217 Gene

Function for TMEM217 Gene

Phenotypes From GWAS Catalog for TMEM217 Gene

genes like me logo Genes that share phenotypes with TMEM217: view

miRNA for TMEM217 Gene

miRTarBase miRNAs that target TMEM217

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM217

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM217 Gene

Localization for TMEM217 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM217 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 TMEM217 gene
Compartment Confidence
nucleus 4
plasma membrane 3
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM217 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM217: view

Pathways & Interactions for TMEM217 Gene

PathCards logo

SuperPathways for TMEM217 Gene

No Data Available

Interacting Proteins for TMEM217 Gene

Gene Ontology (GO) - Biological Process for TMEM217 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM217 Gene

Drugs & Compounds for TMEM217 Gene

No Compound Related Data Available

Transcripts for TMEM217 Gene

mRNA/cDNA for TMEM217 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM217

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM217 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b
SP1:
SP2: - - -
SP3:
SP4: -

Relevant External Links for TMEM217 Gene

GeneLoc Exon Structure for
TMEM217

Expression for TMEM217 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM217 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM217 Gene

This gene is overexpressed in Testis (x14.9) and Adrenal Gland (x4.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM217

SOURCE GeneReport for Unigene cluster for TMEM217 Gene:

Hs.520101
genes like me logo Genes that share expression patterns with TMEM217: view

Primer products for research

No data available for 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 TMEM217 Gene

Orthologs for TMEM217 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM217 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMEM217 29 30
  • 99.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMEM217 29 30
  • 76.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMEM217 29 30
  • 76.37 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmem217 29 16 30
  • 67.42 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC687483 29
  • 66.48 (n)
Lizard
(Anolis carolinensis)
Reptilia TMEM217 30
  • 27 (a)
OneToOne
Species where no ortholog for TMEM217 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)
  • 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)
  • 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 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)
  • Zebrafish (Danio rerio)

Evolution for TMEM217 Gene

ENSEMBL:
Gene Tree for TMEM217 (if available)
TreeFam:
Gene Tree for TMEM217 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM217: view image
Alliance of Genome Resources:
Additional Orthologs for TMEM217

Paralogs for TMEM217 Gene

Paralogs for TMEM217 Gene

genes like me logo Genes that share paralogs with TMEM217: view

Variants for TMEM217 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM217 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs141081292 Benign: not provided 37,218,560(-) C/T
NM_145316.4(TMEM217):c.471G>A (p.Arg157=)
SYNONYMOUS
rs34322528 Benign: not provided 37,218,917(-) C/T
NM_145316.4(TMEM217):c.114G>A (p.Gly38=)
SYNONYMOUS
rs35867476 Benign: not provided 37,218,737(-) A/G
NM_145316.4(TMEM217):c.294T>C (p.Ile98=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMEM217 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TMEM217 Gene

Variant ID Type Subtype PubMed ID
nsv1015689 CNV gain 25217958
nsv1128228 CNV deletion 24896259
nsv527191 CNV loss 19592680

Variation tolerance for TMEM217 Gene

Residual Variation Intolerance Score: 58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM217 Gene

Human Gene Mutation Database (HGMD)
TMEM217
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM217
Leiden Open Variation Database (LOVD)
TMEM217

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM217 Gene

Disorders for TMEM217 Gene

Additional Disease Information for TMEM217

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for TMEM217 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM217 Gene

Publications for TMEM217 Gene

  1. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J … Lambert JC (Molecular psychiatry 2009) 3 40
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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) 3 4
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  5. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. (PMID: 24927181) Navarini AA … Barker JN (Nature communications 2014) 3

Products for TMEM217 Gene

Sources for TMEM217 Gene