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TMEM220 Gene

protein-coding   GIFtS: 37
GCID: GC17M010616

Transmembrane Protein 220

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transmembrane Protein 2201 2

External Ids:    HGNC: 337571   Entrez Gene: 3883352   Ensembl: ENSG000001878247   UniProtKB: Q6QAJ83   

Export aliases for TMEM220 gene to outside databases

Previous GC identifers: GC17M010558 GC17M010516


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TMEM220 Gene:
TMEM220 (transmembrane protein 220) is a protein-coding gene.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM220 gene promoter:
         TBP   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   E4BP4   POU3F2   HNF-3beta   Roaz   GATA-1   Arnt   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM220 promoter sequence
   Search Chromatin IP Primers for TMEM220

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM220


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

TMEM220 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM220 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M010616:  view genomic region     (about GC identifiers)

Start:
10,602,332 bp from pter      End:
10,633,646 bp from pter
Size:
31,315 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TM220_HUMAN, Q6QAJ8 (See protein sequence)
Recommended Name: Transmembrane protein 220  
Size: 160 amino acids; 17754 Da
Secondary accessions: A1YRJ4 B2RNE4 B4DJ52 B9EGW3
Alternative splicing: 2 isoforms:  Q6QAJ8-1   Q6QAJ8-2   

Explore the universe of human proteins at neXtProt for TMEM220: NX_Q6QAJ8

Explore proteomics data for TMEM220 at MOPED


See TMEM220 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001004313.1  
ENSEMBL proteins: 
 ENSP00000462490   ENSP00000339830   ENSP00000396973   ENSP00000462723   ENSP00000464189  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q6QAJ8


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     1 GenomeRNAi human phenotype for TMEM220:
 Large nuclei 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
TM220_HUMAN, Q6QAJ8: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane2
endoplasmic reticulum1
extracellular1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with TMEM220           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM220
Interactions:

    Search GeneGlobe Interaction Network for TMEM220

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for TMEM220 (TM220)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for TMEM220 gene: 
NM_001004313.1  

Unigene Cluster for TMEM220:

Transmembrane protein 220
Hs.462230  [show with all ESTs]
Unigene Representative Sequence: AY550194
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000580787 ENST00000341871(uc002gmx.3 uc002gmy.3) ENST00000455996
ENST00000578345 ENST00000580186 ENST00000581949
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SwitchGear 3'UTR luciferase reporter plasmidTMEM220 3' UTR sequence
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Additional mRNA sequence: 

AK289624.1 AK295928.1 AY550194.1 BC127705.1 BC136838.1 BC136840.1 EF126147.1 

6 DOTS entries:

DT.97772259  DT.99965421  DT.120908269  DT.92030160  DT.95260642  DT.40118413 

Selected AceView cDNA sequences (see all 55):

AY550194 AI986197 AI952836 NM_001004313 AI359929 BM798742 AI652262 AI216327 
AI860147 BU688969 BF062096 AI243547 CD364492 AI810444 AI017584 N72456 
BM510649 BM127964 AI597654 BM511486 BG057216 BE672906 BQ894530 BV176406 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TMEM220 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGTCTACATA
TMEM220 Expression
About this image

TMEM220 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TMEM220 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.462230
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM220

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for TMEM220 gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tmem2201 , 5 transmembrane protein 2201, 5 82.6(n)1
77.99(a)1
  11 (40.59 cM)5
3383691  NM_177392.21  NP_796366.11 
 670251545 
chicken
(Gallus gallus)
Aves TMEM2201 transmembrane protein 220 69.68(n)
66.45(a)
  417311  XM_415582.4  XP_415582.3 
lizard
(Anolis carolinensis)
Reptilia TMEM2206
transmembrane protein 220
51(a)
1 ↔ 1
2(108814374-108824523)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.118502 Transcribed sequences 77.16(n)    BQ523862.1 
zebrafish
(Danio rerio)
Actinopterygii LOC1005367101 transmembrane protein 220-like 52.14(n)
41.03(a)
  100536710  XM_003198062.2  XP_003198110.1 


ENSEMBL Gene Tree for TMEM220 (if available)
TreeFam Gene Tree for TMEM220 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for TMEM220 gene

Find genes that share paralogs with TMEM220           About GenesLikeMe


1 Pseudogenes.org Pseudogene for TMEM220
PGOHUM00000243203


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TMEM220 (see all 309)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1855898611,2
--10616198(+) AGATAC/GTGTGG 1 -- ds50010--------
rs1908239341,2
--10616203(+) GTGTGA/GAGCCC 1 -- ds50010--------
rs16338331,2
C,F,A,H--10616262(-) CCATTT/GTTCTC 1 -- ds500113Minor allele frequency- G:0.48NS EA NA WA CSA 787
rs1404432431,2
--10616282(+) GTGAAG/TGTGTG 1 -- ds50010--------
rs96744631,2
C--10616323(+) tggctC/Tatgcc 1 -- ds50010--------
rs4404941,2
C,F,A--10616416(-) GAGACG/AGGGTT 1 -- ds50014Minor allele frequency- A:0.50NA WA 8
rs3702641,2
C,F,A--10616470(-) GCTGGG/AACTAC 1 -- ds50017Minor allele frequency- A:0.05NA MN WA CSA 195
rs573419091,2
C--10616475(+) TCCAGC/TTACTT 1 -- ds50010--------
rs1124562601,2
C--10616525(+) GGAGAC/TTGTAG 1 -- ds50011Minor allele frequency- T:0.50CSA 2
rs1839237151,2
--10616526(+) GAGATG/TGTAGT 1 -- ds50010--------

HapMap Linkage Disequilibrium report for TMEM220 (10602332 - 10633646 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for TMEM220:    About this table    
Variant IDTypeSubtypePubMed ID
esv2675560CNV Deletion23128226
nsv833367CNV Loss17160897
nsv907682CNV Gain21882294

Site Specific Mutation Identification with 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.)
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Find genes that share disorders with TMEM220           About GenesLikeMe

Genetic Association Database (GAD): TMEM220

Export disorders for TMEM220 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)
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PubMed articles for TMEM220 gene integrated from 10 sources:
(articles sorted by number of sources associating them with TMEM220)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. (PubMed id 24068947)1 Brandler W.M....Paracchini S. (PLoS Genet. 2013)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  4. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  5. (PubMed id )2 

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 388335 HGNC: 33757 AceView: LOC388335 Ensembl:ENSG00000187824 euGenes: HUgn388335
ECgene: TMEM220 H-InvDB: TMEM220

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for TMEM220 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for TMEM220 gene:
Search GeneIP for patents involving TMEM220

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM220
 SwitchGear 3'UTR luciferase reporter plasmids for TMEM220
 SwitchGear Promoter luciferase reporter plasmids for TMEM220
 Search ThermoFisher Antibodies for TMEM220
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM220
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM220
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TMEM220
 Search LSBio for Antibodies for TMEM220
 Browse compounds at ApexBio
 Search Addgene for plasmids for TMEM220
  Search eBioscience for proteins for TMEM220
  Search eBioscience for elisas for TMEM220
  eBioscience FlowRNA Probe Sets
Customized transgenic rodents for:
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  Search antibodies-online for antibodies for TMEM220
 antibodies-online kits for TMEM220 (4 products)
  Search antibodies-online for peptides for TMEM220
  Search antibodies-online for proteins for TMEM220
       
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