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TMEM196 Gene

protein-coding   GIFtS: 38
GCID: GC07M019758

Transmembrane Protein 196

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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 1961 2

External Ids:    HGNC: 224311   Entrez Gene: 2561302   Ensembl: ENSG000001734527   UniProtKB: Q5HYL73   

Export aliases for TMEM196 gene to outside databases

Previous GC identifer: GC07M019726


(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 TMEM196 Gene:
TMEM196 (transmembrane protein 196) 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_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM196 gene promoter:
         AhR   GATA-3   FOXO3   FOXD3   HNF-3beta   FOXO3b   Arnt   COMP1   Sox9   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM196 promoter sequence
   Search Chromatin IP Primers for TMEM196

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM196


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

Entrez Gene cytogenetic band: 7p21.1   Ensembl cytogenetic band:  7p21.1   HGNC cytogenetic band: 7p15.3

TMEM196 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM196 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M019758:  view genomic region     (about GC identifiers)

Start:
19,758,933 bp from pter      End:
19,813,221 bp from pter
Size:
54,289 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 19,810,345-19,863,812     

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TM196_HUMAN, Q5HYL7 (See protein sequence)
Recommended Name: Transmembrane protein 196  
Size: 178 amino acids; 19025 Da
Sequence caution: Sequence=BX648384; Type=Frameshift; Positions=72;
Secondary accessions: Q8N6I6
Alternative splicing: 4 isoforms:  Q5HYL7-1   Q5HYL7-2   Q5HYL7-3   Q5HYL7-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM196: NX_Q5HYL7

Explore proteomics data for TMEM196 at MOPED


See TMEM196 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_689987.3  
ENSEMBL proteins: 
 ENSP00000385087   ENSP00000384234   ENSP00000414247   ENSP00000438368   ENSP00000406460  

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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: Q5HYL7


(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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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
TM196_HUMAN, Q5HYL7: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane3
golgi apparatus1
nucleus1

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 TMEM196           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 TMEM196
Interactions:

    Search GeneGlobe Interaction Network for TMEM196

(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 TMEM196 (TM196)



(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 TMEM196 gene: 
NM_152774.3  

Unigene Cluster for TMEM196:

Transmembrane protein 196
Hs.487670  [show with all ESTs]
Unigene Representative Sequence: BX647256
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000405844(uc011jyg.2 uc003sur.3) ENST00000405764 ENST00000422233
ENST00000493519 ENST00000433641
miRNA
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Additional mRNA sequence: 

BC030104.1 BX647256.1 BX648384.1 

2 DOTS entries:

DT.411932  DT.100737957 

Selected AceView cDNA sequences (see all 45):

BM893787 BQ778445 BX642622 AA017464 BX103635 CK823401 AA017254 BG708366 
BG193043 AA013016 AA774038 AA012930 BG220995 BX648384 BQ776358 BG200807 
BM967078 BX647256 BG201206 CK823402 BG196123 BM966965 AA019333 AA017245 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM196    About this scheme

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


ECgene alternative splicing isoforms for TMEM196

(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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TMEM196 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TCTATAATAA
TMEM196 Expression
About this image

TMEM196 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TMEM196 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.487670
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM196

(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 TMEM196 gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tmem1961 , 5 transmembrane protein 1961, 5 91.28(n)1
97.09(a)1
  12 (63.86 cM)5
2179511  NM_001160385.11  NP_001153857.11 
 1199459575 
chicken
(Gallus gallus)
Aves TMEM1961 transmembrane protein 196 83.53(n)
92.44(a)
  772254  XM_004939341.1  XP_004939398.1 
lizard
(Anolis carolinensis)
Reptilia TMEM1966
transmembrane protein 196
90(a)
1 ↔ 1
6(28908225-28929164)
tropical clawed frog
(Xenopus tropicalis)
Amphibia tmem1961 transmembrane protein 196 76.02(n)
80.7(a)
  100125062  NM_001102979.1  NP_001096449.1 
zebrafish
(Danio rerio)
Actinopterygii LOC7984661 transmembrane protein 196-like 68.42(n)
70.76(a)
  798466  XM_001338873.4  XP_001338909.3 


ENSEMBL Gene Tree for TMEM196 (if available)
TreeFam Gene Tree for TMEM196 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for TMEM196 gene

Find genes that share paralogs with TMEM196           About GenesLikeMe


1 Pseudogenes.org Pseudogene for TMEM196
PGOHUM00000260058


(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 TMEM196 (see all 1272)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1904322361,2
--19703563(+) AAATCC/GTCAAA 1 -- us2k10--------
rs1476015371,2
--19758481(+) AGATGC/TTAAAT 1 -- int10--------
rs1403938011,2
--19758497(+) GAAATA/GTGTGG 1 -- int10--------
rs1163850521,2
F--19758516(+) GCATAA/GTAAGT 1 -- int11Minor allele frequency- G:0.03WA 118
rs759227121,2
C,F--19758524(+) AGTTAT/CTATTC 1 -- int11Minor allele frequency- C:0.05NA 120
rs1904659001,2
--19758534(+) CAGCCC/TAAATG 1 -- int10--------
rs1829785751,2
--19758769(+) TTTTGC/TATCTC 1 -- int10--------
rs1442406561,2
--19758774(+) TATCTC/TAAATA 1 -- int10--------
rs1511380451,2
--19758802(+) TGTATC/GCTTCG 1 -- int10--------
rs790708291,2
C,F--19758807(+) CCTTCG/ATCTGT 1 -- int12Minor allele frequency- A:0.04NA EA 240

HapMap Linkage Disequilibrium report for TMEM196 (19758933 - 19813221 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for TMEM196:    About this table    
Variant IDTypeSubtypePubMed ID
esv2734097CNV Deletion23290073
nsv830918CNV Loss17160897
nsv524807CNV Gain19592680

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 TMEM196           About GenesLikeMe

Genetic Association Database (GAD): TMEM196

Export disorders for TMEM196 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 TMEM196 gene integrated from 10 sources:
(articles sorted by number of sources associating them with TMEM196)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)1, 4 Hwang S.J....Fox C.S. (BMC Med. Genet. 2007)
  2. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PubMed id 17903307)4 Wilk J.B....O'Connor G.T. (BMC Med. Genet. 2007)
  3. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. (PubMed id 17903295)4 Lunetta K.L....Murabito J.M. (BMC Med. Genet. 2007)
  4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  5. 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)
  6. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)
  7. 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)

(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: 256130 HGNC: 22431 AceView: MGC42090 Ensembl:ENSG00000173452 euGenes: HUgn256130
ECgene: TMEM196 H-InvDB: TMEM196

(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 TMEM196 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 TMEM196 gene:
Search GeneIP for patents involving TMEM196

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, 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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 Browse ProSpec Recombinant Proteins
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 Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM196
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM196
 SwitchGear 3'UTR luciferase reporter plasmids for TMEM196
 SwitchGear Promoter luciferase reporter plasmids for TMEM196
 Search ThermoFisher Antibodies for TMEM196
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM196
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM196
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TMEM196
 Search LSBio for Antibodies for TMEM196
Customized transgenic rodents for:
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 Search Addgene for plasmids for TMEM196
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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