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

TTC12 Gene

protein-coding   GIFtS: 46
GCID: GC11P113185

tetratricopeptide repeat domain 12

 Explore 7 diseases affiliated with
TTC12 via our new
 Human Malady Compendium 
Biological research products
for TTC12
    

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

Aliases
Tetratricopeptide Repeat Domain 121 2     FLJ205351
TPARM1 2 5     Tetratricopeptide Repeat Protein 122
TPR Repeat Protein 122 3     Tetratricopeptide Repeat Protein 12 Variant 12
FLJ138591     Tetratricopeptide Repeat Protein 12 Variant 22

External Ids:    HGNC: 237001   Entrez Gene: 549702   Ensembl: ENSG000001492927   OMIM: 6107325   UniProtKB: Q9H8923   

Export aliases for TTC12 gene to outside databases

Previous GC identifers: GC11P112722 GC11P112690 GC11P109112


(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_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTC12 gene promoter:
         ISGF-3   E47   HNF-4alpha1   SRY   POU2F1   POU2F1a   Hand1   TGIF   ATF   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC12 promoter sequence
   Search SABiosciences Chromatin IP Primers for TTC12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC12


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

Entrez Gene cytogenetic band: 11q23.2   Ensembl cytogenetic band:  11q23.2   HGNC cytogenetic band: 11q23.2

TTC12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC12 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P113185:  view genomic region     (about GC identifiers)

Start:
113,185,251 bp from pter      End:
113,254,266 bp from pter
Size:
69,016 bases      Orientation:
plus 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: TTC12_HUMAN, Q9H892 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 12  
Size: 705 amino acids; 78756 Da
Sequence caution: Sequence=BAA91242.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q8N5H9 Q9NWY3
Alternative splicing: 2 isoforms:  Q9H892-1   Q9H892-2   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for TTC12: NX_Q9H892

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H892

  • TTC12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060338.3  
    ENSEMBL proteins: 
     ENSP00000433757   ENSP00000413335   ENSP00000400039   ENSP00000433916   ENSP00000431806  
     ENSP00000435308   ENSP00000437030   ENSP00000435291   ENSP00000376743   ENSP00000402004  
     ENSP00000419652   ENSP00000436677   ENSP00000433274   ENSP00000435730   ENSP00000315160  

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    Novus Biologicals TTC12 Protein
    Novus Biologicals TTC12 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TTC12


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    Uscn ELISAs and CLIAs for TTC12


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

    TTC12 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR011990 TPR-like_helical
     IPR011989 ARM-like
     IPR013105 TPR_2
     IPR016024 ARM-type_fold
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q9H892

    ProtoNet protein and cluster: Q9H892

    UniProtKB/Swiss-Prot: TTC12_HUMAN, Q9H892
    Similarity: Contains 3 TPR repeats


    (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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    OriGene 3'-UTR Clone: TTC12
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    Inhib. RNA
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    OriGene siRNA: TTC12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TTC12

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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC12 

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    Search LifeMap BioReagents cell lines for TTC12

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    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TTC12

    1 Interacting protein for TTC12 (Q9H8923) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483I2D: score=1 
    About this table

    (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 TTC12
    Search CenterWatch for drugs/clinical trials and news about TTC12 

    (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 TTC12 gene: 
    NM_017868.3  

    Unigene Cluster for TTC12:

    Tetratricopeptide repeat domain 12
    Hs.288772  [show with all ESTs]
    Unigene Representative Sequence: AK125909
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000529221(uc001pnu.3 uc001pnv.3) ENST00000429951 ENST00000442859
    ENST00000531164 ENST00000529850 ENST00000525965 ENST00000464224(uc001pnx.3)
    ENST00000494714(uc001pnw.3) ENST00000393020 ENST00000455306 ENST00000489064
    ENST00000527781 ENST00000483239 ENST00000524580 ENST00000527362 ENST00000525989
    ENST00000534793 ENST00000478125

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TTC12 (see all 7)
    OriGene shRNA RFP: TTC12
    OriGene siRNA: TTC12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TTC12
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TTC12 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TTC12
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    GenScript: all cDNA clones in your preferred vector: TTC12 (NM_017868)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TTC12
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TTC12

    Additional cDNA sequence: 

    AK000542.1 AK023921.1 AK027161.1 AK091887.1 AK125909.1 AK223117.1 AK292331.1 BC011546.1 
    BC019086.2 

    17 DOTS entries:

    DT.99961473  DT.100020560  DT.108310  DT.100020559  DT.120720437  DT.97779874  DT.91955198  DT.100030480 
    DT.92424750  DT.95269636  DT.65287571  DT.95257432  DT.40307708  DT.97854427  DT.91820313  DT.91840354 
    DT.91853573 

    24/111 AceView cDNA sequences (see all 111):

    BC019086 CR597551 CN478998 AW513387 BU684868 BC032355 BC011546 AI586953 
    AK000542 AK125909 BE261724 AA809070 AK027161 BM992919 BX421378 AA399653 
    AK023921 BM698700 BF725316 BM473638 CF132464 AK091887 BQ218129 AU124478 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for TTC12 (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
    SP1:                                                                                -                                                                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                      -                                                                                                                     

    ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for TTC12

    (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

    TTC12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCTAGAAAT

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

    About this image

    TTC12 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TTC12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTC12

    SOURCE GeneReport for Unigene cluster: Hs.288772
        SABiosciences Custom PCR Arrays for TTC12
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC12

    (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 animals.

    Orthologs for TTC12 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc121 , 5 tetratricopeptide repeat domain 121, 5 80.59(n)1
    75.14(a)1
      9 (26.83 cM)5
    2353301  NM_172770.31  NP_766358.11 
     494369635 
    chicken
    (Gallus gallus)
    Aves TTC121 tetratricopeptide repeat domain 12 59.83(n)
    50(a)
      770784  XM_003642610.1  XP_003642658.1 
    lizard
    (Anolis carolinensis)
    Reptilia TTC126
    --
    45(a)
    1 ↔ 1
    GL343354.1(553247-588419)
    zebrafish
    (Danio rerio)
    Actinopterygii ttc121 tetratricopeptide repeat domain 12 53.19(n)
    42.92(a)
      563791  NM_001202496.1  NP_001189425.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69801 CG6980 47.31(n)
    35.33(a)
      42955  NM_143032.1  NP_651289.1 


    ENSEMBL Gene Tree for TTC12 (if available)
    TreeFam Gene Tree for TTC12 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TTC12 gene
    SGTB2  STUB12  SGTA2  
    1 SIMAP similar gene for TTC12 using alignment to 16 protein entries:     TTC12_HUMAN (see all proteins):
    STIP1

    TTC12 for paralogs           About GeneDecksing



    (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

    10/940 NCBI SNPs in TTC12 are shown (see all 940    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs769753081,2
    F,--113183313(+) AGTACC/GCTATA 1 -- us2k11Minor allele frequency- G:0.02WA 118
    rs1884440871,2
    --113183460(+) GGATCC/TCCAGG 1 -- us2k10--------
    rs1416001441,2
    --113183471(+) TCTCCC/TGCTGC 1 -- us2k10--------
    rs1915766071,2
    --113183546(+) ACATCC/TGTGGC 1 -- us2k10--------
    rs1448352291,2
    C,--113183557(+) CCCTT-/TGTGTTA 1 -- us2k10--------
    rs1143465521,2
    F,--113183676(+) ATGGGG/ACCTAG 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1147979781,2
    F,--113183759(+) CCTCTG/AGCGAA 1 -- us2k11Minor allele frequency- A:0.06WA 118
    rs455038941,2
    C,F,--113183779(+) TAGGGG/TCTCCT 1 -- us2k11Minor allele frequency- T:0.05NS 38
    rs1825455121,2
    --113183792(+) TTCCCG/TGCCAA 1 -- us2k10--------
    rs8850541,2
    C,F,A,H,--113183802(+) AACAGG/ATTTCC 1 -- us2k112Minor allele frequency- A:0.02NA EA NS 1346

    HapMap Linkage Disequilibrium report for TTC12 (113185251 - 113254266 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TTC12: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TTC12
    DNA2.0 Custom Variant and Variant Library Synthesis for TTC12

    (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

    TTC12 for disorders           About GeneDecksing

    OMIM gene information: 610732    OMIM disorders: --

    7 diseases for TTC12:    About MalaCards
    nicotine dependence    drug dependence    alcohol dependence    acute lymphoblastic leukemia
    lymphoblastic leukemia    alcoholism    leukemia

    Human Genome Epidemiology (HuGE) Navigator: TTC12 (6 documents)

    Export disorders for TTC12 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 TTC12 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with TTC12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of TPARM gene in silico. (PubMed id 12964006)1, 3, 9 Katoh M. and Katoh M. (2003)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence d ifferent pathways leading to smoking behavior from adolescence to mid-adulthood . (PubMed id 21168125)1 Ducci F....JAorvelin M.R. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. Sex differences in TTC12/ANKK1 haplotype associations with daily tobacco smoking in Black and White Americans. (PubMed id 20133381)1 David S.P....Eaton W.W. (2010)
    7. Haplotypic Variants in DRD2, ANKK1, TTC12, and NCAM1 are Associated With Comorbid Alcohol and Drug Dependence. (PubMed id 18828801)1 Yang B.Z....Gelernter J. (2008)
    8. Association of haplotypic variants in DRD2, ANKK1, TTC12 and NCAM1 to alcohol dependence in independent case control and family samples. (PubMed id 17761687)1 Yang B.Z....Gelernter J. (2007)
    9. Hypermethylation of TTC12 gene in acute lymphoblastic leukemia. (PubMed id 17657212)1 Wattanawaraporn R....Mutirangura A. (2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54970 HGNC: 23700 AceView: TTC12 Ensembl:ENSG00000149292 euGenes: HUgn54970
    ECgene: TTC12 H-InvDB: TTC12

    (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 TTC12 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 TTC12 gene:
    Search GeneIP for patents involving TTC12

    GeneCards and IP:
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