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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMEM217 Gene

protein-coding   GIFtS: 37
GCID: GC06M037179

transmembrane protein 217

(Previous name: chromosome 6 open reading frame 128 )
(Previous symbol: C6orf128)
  Search for TMEM217
in our new
 Human Malady Compendium 
Biological research products
for TMEM217
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transmembrane Protein 2171 2
C6orf1281 2 3
DJ355M6.21
Chromosome 6 Open Reading Frame 1281

External Ids:    HGNC: 212381   Entrez Gene: 2214682   Ensembl: ENSG000001727387   UniProtKB: Q8N7C43   

Export aliases for TMEM217 gene to outside databases

Previous GC identifers: GC06M037288 GC06M036898


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMEM217 gene promoter:
         TBP   TFIID   POU3F1   Cart-1   Nkx2-5   RORalpha2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM217 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM217

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM217


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.2   Ensembl cytogenetic band:  6p21.2   HGNC cytogenetic band: 6p21.31-p21.2

TMEM217 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM217 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M037179:  view genomic region     (about GC identifiers)

Start:
37,179,954 bp from pter      End:
37,225,931 bp from pter
Size:
45,978 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TM217_HUMAN, Q8N7C4 (See protein sequence)
Recommended Name: Transmembrane protein 217  
Size: 229 amino acids; 26582 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q8TC54
Alternative splicing: 2 isoforms:  Q8N7C4-1   Q8N7C4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM217: NX_Q8N7C4

TMEM217 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins (2 alternative transcripts): 
NP_001156372.1  NP_660359.2  

ENSEMBL proteins: 
 ENSP00000349198   ENSP00000338164  

Human Recombinant Protein Products: 
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Uscn Proteins for TMEM217

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral to membrane IEA--


TMEM217 for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for TMEM217


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q8N7C4


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA
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6 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM217:
hsa-miR-640 hsa-miR-519c-3p hsa-miR-1286 hsa-miR-519a hsa-miR-519b-3p hsa-miR-1253
SwitchGear 3'UTR luciferase reporter plasmidTMEM217 3' UTR sequence
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM217

1 GenomeRNAi human phenotype for TMEM217:
 Decreased viability with pacli 


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM217

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TMEM217
Search CenterWatch for drugs/clinical trials and news about TMEM217 / TM217 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TMEM217 gene (2 alternative transcripts): 
NM_001162900.1  NM_145316.3  

Unigene Cluster for TMEM217:

Transmembrane protein 217
Hs.520101  [show with all ESTs]
Unigene Representative Sequence: NM_001162900
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000356757(uc010jwr.3) ENST00000336655(uc003onl.3) ENST00000497775(uc010jws.3)
ENST00000478262 ENST00000482580 ENST00000357219(uc003onm.4)

miRNA
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6 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM217:
hsa-miR-640 hsa-miR-519c-3p hsa-miR-1286 hsa-miR-519a hsa-miR-519b-3p hsa-miR-1253
SwitchGear 3'UTR luciferase reporter plasmidTMEM217 3' UTR sequence
Inhib. RNA
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Clone
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Additional cDNA sequence: 

AK098666.1 BC009625.1 BC026012.1 BC029657.1 

6 DOTS entries:

DT.91656887  DT.97775206  DT.101975478  DT.75169206  DT.101982439  DT.453005 

21 AceView cDNA sequences:

AI830286 BC009625 AK098666 BX099333 BG285024 NM_145316 BC029657 BE905397 
BC026012 BG182260 BE549086 AI024642 AI125204 AA813195 AW188099 BI464413 
BQ021242 BF081510 BI462473 BI826996 BF736619 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM217    About this scheme

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


ECgene alternative splicing isoforms for TMEM217

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TMEM217 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAGATGCCA

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See TMEM217 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM217

SOURCE GeneReport for Unigene cluster: Hs.520101
    SABiosciences Custom PCR Arrays for TMEM217
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM217

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for TMEM217 gene from 1/4 species (see all 4)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tmem2171 , 5 transmembrane protein 2171, 5 69.86(n)1
59.28(a)1
  17 (15.42 cM)5
711381  NM_001162901.11  NP_001156373.11 
 295260335 


ENSEMBL Gene Tree for TMEM217 (if available)
TreeFam Gene Tree for TMEM217 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/741 NCBI SNPs in TMEM217 are shown (see all 741    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1848820821,2
--37179710(+) AAAAAC/GAATAA 1 -- ds50010--------
rs1482550701,2
--37179984(+) CACATA/GTCATT 1 -- ut310--------
rs780129751,2
F,--37180036(+) GATCCG/ACACAA 1 -- ut311Minor allele frequency- A:0.06WA 118
rs10554611,2
C,F,H,--37180043(-) GGGCAG/AGTTGT 1 -- ut31 ese322Minor allele frequency- A:0.07NA EA NS 2544
rs1413090811,2
--37180132(+) GTAGGA/GAGGGT 1 -- ut310--------
rs10554601,2
C,F,O,H,--37180136(-) TGGAAC/GCCTCC 1 -- ut31 ese318Minor allele frequency- G:0.19MN NA EA NS 1586
rs781007271,2
C,F,--37180180(+) TGGCAT/GCTGGC 1 -- ut311Minor allele frequency- G:0.06WA 118
rs743599741,2
C,F,--37180204(+) ACTTCC/TGGTAC 1 -- ut311Minor allele frequency- T:0.08WA 118
rs12243291,2
C,F,O,A,H,--37180237(+) GTCATA/GAGTTC 1 -- ut31 ese330Minor allele frequency- G:0.25MN NA NS EA WA CSA 3036
rs1896057621,2
--37180329(+) ACGATA/GAAGGG 1 -- ut310--------

HapMap Linkage Disequilibrium report for TMEM217 (37179954 - 37225931 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for TMEM217: --

SABiosciences Cancer Mutation PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TMEM217 for disorders           About MalaCards

TMEM217 for disorders           About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: TMEM217 (1 document)

Export disorders for TMEM217 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for TMEM217 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TMEM217)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
  4. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1 Chapuis J....Lambert J.C. (2009)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
  6. Modification and identification of cytochrome b5 carboxyl groups involved in protein-protein interaction with cytochrome b5 reductase. (PubMed id 221468)1 Dailey H.A. and Strittmatter P. (1979)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 221468 HGNC: 21238 AceView: C6orf128 Ensembl:ENSG00000172738 euGenes: HUgn221468
ECgene: TMEM217 H-InvDB: TMEM217

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for TMEM217 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for TMEM217 gene:
Search GeneIP for patents involving TMEM217

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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