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CLPTM1 Gene

protein-coding   GIFtS: 58
GCID: GC19P045458

Cleft Lip And Palate Associated Transmembrane Protein 1

  See CLPTM1-related disease
at  

(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
Cleft Lip And Palate Associated Transmembrane Protein 11 2
Cleft Lip And Palate Transmembrane Protein 12

External Ids:    HGNC: 20871   Entrez Gene: 12092   Ensembl: ENSG000001048537   OMIM: 6047835   UniProtKB: O960053   

Export aliases for CLPTM1 gene to outside databases

Previous GC identifers: GC19P046103 GC19P045849 GC19P050134 GC19P050150 GC19P041889


(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 CLPTM1 Gene:
CLPTM1 (cleft lip and palate associated transmembrane protein 1) is a protein-coding gene. Diseases associated with CLPTM1 include cleft lip. An important paralog of this gene is CLPTM1L.

UniProtKB/Swiss-Prot: CLPT1_HUMAN, O96005
Function: May play a role in T-cell development (By similarity)

Gene Wiki entry for CLPTM1 (Cleft lip and palate transmembrane protein 1) 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_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CLPTM1 gene promoter:
         AhR   Sox5   Pax-5   RREB-1   GATA-1   Arnt   ZID   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLPTM1 promoter sequence
   Search Chromatin IP Primers for CLPTM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CLPTM1


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

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.3

CLPTM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLPTM1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P045458:  view genomic region     (about GC identifiers)

Start:
45,457,842 bp from pter      End:
45,496,604 bp from pter
Size:
38,763 bases      Orientation:
plus 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., 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: CLPT1_HUMAN, O96005 (See protein sequence)
Recommended Name: Cleft lip and palate transmembrane protein 1  
Size: 669 amino acids; 76097 Da
Sequence caution: Sequence=AAH04865.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Sequence=AAP35926.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Secondary accessions: Q53ET6 Q9BSS5

Explore the universe of human proteins at neXtProt for CLPTM1: NX_O96005

Explore proteomics data for CLPTM1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys209, Lys224, Lys534
  • Glycosylation2 at Asn28, Asn119, Asn161, Asn241, Asn295, Asn413
  • Modification sites at PhosphoSitePlus

  • See CLPTM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001269104.1  NP_001269105.1  NP_001285.1  

    ENSEMBL proteins: 
     ENSP00000443192   ENSP00000442011   ENSP00000336994   ENSP00000467927   ENSP00000465731  
     ENSP00000464985   ENSP00000468310  

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    Cloud-Clone Corp. Proteins for CLPTM1

     
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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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    1 InterPro protein domain:
     IPR008429 CLPTM1

    Graphical View of Domain Structure for InterPro Entry O96005

    ProtoNet protein and cluster: O96005

    UniProtKB/Swiss-Prot: CLPT1_HUMAN, O96005
    Similarity: Belongs to the CLPTM1 family


    Find genes that share domains with CLPTM1           About GenesLikeMe


    (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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CLPT1_HUMAN, O96005
    Function: May play a role in T-cell development (By similarity)

         Genatlas biochemistry entry for CLPTM1:
    putative transmembrane protein,strongly homolog to C elegans R166.2,disrupted by a balanced translocation
    t(2;19)(q11.2;q13.3) in a family with cleft lip and palate

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with CLPTM1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CLPTM1
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    miRTarBase miRNAs that target CLPTM1:
    hsa-mir-17-5p (MIRT050963), hsa-mir-10b-5p (MIRT047428), hsa-mir-186-5p (MIRT044966)

    Block miRNA regulation of human, mouse, rat CLPTM1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate CLPTM1:
    hsa-miR-198 hsa-miR-605 hsa-miR-892a
    SwitchGear 3'UTR luciferase reporter plasmidCLPTM1 3' UTR sequence
    Inhib. RNA
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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
    CLPT1_HUMAN, O96005: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS9828125
    GO:0009897external side of plasma membrane ISS--
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with CLPTM1           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 CLPTM1
    Interactions:

        Search GeneGlobe Interaction Network for CLPTM1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for CLPTM1 (O960051, 3 ENSP000003369944) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UNC93B1Q9H1C43, ENSP000002274714I2D: score=1 STRING: ENSP00000227471
    UBCENSP000003448184STRING: ENSP00000344818
    MOSPD3ENSP000002230544STRING: ENSP00000223054
    Unc93b1Q8VCW41EBI-2873194,EBI-6116986
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0030154cell differentiation IEA--
    GO:0033081regulation of T cell differentiation in thymus ISS--

    Find genes that share ontologies with CLPTM1           About GenesLikeMe



    (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 CLPTM1 (CLPT1)



    (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 CLPTM1 gene (4 alternative transcripts): 
    NM_001199468.1  NM_001282175.1  NM_001282176.1  NM_001294.3  

    Unigene Cluster for CLPTM1:

    Cleft lip and palate associated transmembrane protein 1
    Hs.444441  [show with all ESTs]
    Unigene Representative Sequence: NM_001294
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000588855 ENST00000546079(uc010ejv.1) ENST00000541297 ENST00000337392(uc010xxf.2 uc010xxg.2 uc002pai.3 uc021uvo.1)
    ENST00000591304 ENST00000585961 ENST00000587537 ENST00000589158 ENST00000588274
    ENST00000589347 ENST00000586975 ENST00000586915
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate CLPTM1:
    hsa-miR-198 hsa-miR-605 hsa-miR-892a
    SwitchGear 3'UTR luciferase reporter plasmidCLPTM1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): CLPTM1 (NM_001294)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CLPTM1
      QuantiTect SYBR Green Assays in human, mouse, rat CLPTM1
      QuantiFast Probe-based Assays in human, mouse, rat CLPTM1

    Additional mRNA sequence: 

    AF037339.1 AK027698.1 AK074935.1 AK075262.1 AK223553.1 AK293314.1 AK304480.1 AK310826.1 
    AK316094.1 BC004865.2 BC012359.1 BT007262.1 NR_040006.1 NR_040007.1 

    17 DOTS entries:

    DT.100795672  DT.100038651  DT.447773  DT.92471565  DT.91785264  DT.100795670  DT.91915927  DT.100674749 
    DT.100795673  DT.95199762  DT.100645696  DT.121453109  DT.40121123  DT.91942793  DT.95164962  DT.97802473 
    DT.121453031 

    Selected AceView cDNA sequences (see all 440):

    BM456554 AL555792 BM561737 AL560787 CR601372 BI837165 BU845714 BI916245 
    CB149462 BM782662 BM756791 BQ640113 BQ574654 BG678490 CA487830 BG389468 
    CA487366 BG820295 CR595770 AL138133 CD611191 BG315148 CR614486 CR591313 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CLPTM1 (see all 9)    About this scheme

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

    ExUns: 17d
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for CLPTM1

    (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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    CLPTM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAAGCTGA
    CLPTM1 Expression
    About this image


    CLPTM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus
    CLPTM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CLPTM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444441

    UniProtKB/Swiss-Prot: CLPT1_HUMAN, O96005
    Tissue specificity: Widely expressed

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLPTM1

    (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 eukaryotes.

    Orthologs for CLPTM1 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clptm11 , 5 cleft lip and palate associated transmembrane protein more1, 5 88.81(n)1
    95.48(a)1
      7 (9.93 cM)5
    564571  NM_019649.21  NP_062623.21 
     196315815 
    lizard
    (Anolis carolinensis)
    Reptilia CLPTM16
    cleft lip and palate associated transmembrane prot...
    76(a)
    1 ↔ 1
    LGf(3473255-3502054)
    African clawed frog
    (Xenopus laevis)
    Amphibia CD330101.12   -- 75.22(n)    CD330101.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb1022 sbcb102 78.56(n)   321095  CK025705.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37021 , 3 CG37021 54(a)3
    59.63(n)1
    53.68(a)1
      336281  NM_001273088.11  NP_001260017.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C36B7.61 , 3 C36B7.61 53(a)
    (best of 2)3
    56.19(n)1
    54.94(a)1
      X(7133015-7135908)3
    1809761  NM_076795.31  NP_509196.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G235751 AT5G23575 51.96(n)
    46.17(a)
      832423  NM_147908.3  NP_680213.1 
    rice
    (Oryza sativa)
    Liliopsida Os.186122 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 75.11(n)    AK067882.1 


    ENSEMBL Gene Tree for CLPTM1 (if available)
    TreeFam Gene Tree for CLPTM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CLPTM1 gene
    CLPTM1L2  
    1 SIMAP similar gene for CLPTM1 using alignment to 7 protein entries:     CLPT1_HUMAN (see all proteins):
    CLPTM1L

    Find genes that share paralogs with CLPTM1           About GenesLikeMe



    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    CLPT1_HUMAN, O96005: A chromosomal translocation involving CLPTM1 is found in a family with cleft lip and palate.
    However, no etiologic link with the disease is characterized. Translocation t(2;19)(q11.2;q13.3)


    Selected SNPs for CLPTM1 (see all 1018)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1889934111,2
    --41886385(+) GGCATC/GTACCA 1 -- us2k10--------
    rs1809838791,2
    --41886386(+) GCATGC/TACCAC 1 -- us2k10--------
    rs1853229821,2
    --45455844(+) CAGCTA/GATTTT 1 -- us2k10--------
    rs124603461,2
    C,H--45455901(+) TCGAAG/CTCCCG 1 -- us2k14Minor allele frequency- C:0.12NA WA 8
    rs124603471,2
    C,F,H--45455905(+) ACTCCT/CGACCT 1 -- us2k1 tfbs34Minor allele frequency- C:0.25NA WA CSA 8
    rs72547231,2
    C,F,A,H--45455921(+) gatccG/Accagc 1 -- us2k1 tfbs35Minor allele frequency- A:0.20NA WA CSA 10
    rs1886708221,2
    --45455924(+) CCACCA/TGCCTC 1 -- us2k10--------
    rs124603521,2
    C,H--45455966(+) gccacT/Cacacc 1 -- us2k15Minor allele frequency- C:0.11NA WA CSA 9
    rs356706841,2
    C--45455985(+) TTTGTC/ACTTTT 1 -- us2k11Minor allele frequency- A:0.00NA 2
    rs1127571141,2
    C--45455985(+) TTTGT-/AACTTT 1 -- us2k11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for CLPTM1 (45457842 - 45496604 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CLPTM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2656681CNV Deletion23128226
    nsv912141CNV Loss21882294
    dgv14e24CNV Loss17666407
    esv22789CNV Loss19812545
    nsv912134CNV Loss21882294
    nsv912133CNV Loss21882294
    esv32608CNV Loss17666407
    nsv828562CNV Gain20364138

    Human Gene Mutation Database (HGMD): CLPTM1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CLPTM1
    DNA2.0 Custom Variant and Variant Library Synthesis for CLPTM1

    (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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    OMIM gene information: 604783    OMIM disorders: --

    1 disease for CLPTM1:    
    About MalaCards
    cleft lip

    2 diseases from the University of Copenhagen DISEASES database for CLPTM1:
    Cleft lip     Cleft palate

    Find genes that share disorders with CLPTM1           About GenesLikeMe

    Genetic Association Database (GAD): CLPTM1
    Human Genome Epidemiology (HuGE) Navigator: CLPTM1 (10 documents)

    Export disorders for CLPTM1 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

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    PubMed articles for CLPTM1 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with CLPTM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate. (PubMed id 9828125)1, 2, 3 Yoshiura K.... Murray J.C. (Genomics 1998)
    2. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. (PubMed id 20572854)1, 4 JagomAogi T....Metspalu A. (Eur. J. Oral Sci. 2010)
    3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    4. Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. (PubMed id 20672350)1, 4 Nikopensius T....Metspalu A. (Birth Defects Res. Part A Clin. Mol. Teratol. 2010)
    5. Testing reported associations of genetic risk factors for oral clefts in a large Irish study population. (PubMed id 19937600)1, 4 Carter T.C....Mills J.L. (Birth Defects Res. Part A Clin. Mol. Teratol. 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    8. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)1, 2 Lewandrowski U.... Sickmann A. (Mol. Cell. Proteomics 2006)
    9. PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. (PubMed id 16247549)1, 4 Ichikawa E....Yoshiura K. (J. Hum. Genet. 2006)
    10. Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate. (PubMed id 16122939)1, 4 Turhani D....Ewers R. (J Craniomaxillofac Surg 2005)

    (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)
    About This Section

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    Entrez Gene: 1209 HGNC: 2087 AceView: CLPTM1 Ensembl:ENSG00000104853 euGenes: HUgn1209
    ECgene: CLPTM1 H-InvDB: CLPTM1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for CLPTM1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CLPTM1 gene:
    Search GeneIP for patents involving CLPTM1

    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
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