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CDRT15 Gene

protein-coding   GIFtS: 29
GCID: GC17M014138

CMT1A Duplicated Region Transcript 15

  Search for CDRT15
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
CMT1A Duplicated Region Transcript 151 2
CMT1A Duplicated Region Transcript 15 Protein2

External Ids:    HGNC: 143951   Entrez Gene: 1468222   Ensembl: ENSG000002235107   UniProtKB: Q96T593   

Export aliases for CDRT15 gene to outside databases

Previous GC identifers: GC17U990296 GC17M014083


(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 CDRT15 Gene:
CDRT15 (CMT1A duplicated region transcript 15) is a protein-coding gene. An important paralog of this gene is CDRT15L2.


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the CDRT15 gene promoter:
         AhR   NF-1   AML1a   Tal-1   Arnt   GATA-1   E47   FOXO1a   RSRFC4   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDRT15 promoter sequence
   Search Chromatin IP Primers for CDRT15

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDRT15


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

Entrez Gene cytogenetic band: 17p12   Ensembl cytogenetic band:  17p12   HGNC cytogenetic band: 17p12

CDRT15 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDRT15 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M014138:  view genomic region     (about GC identifiers)

Start:
14,138,990 bp from pter      End:
14,140,179 bp from pter
Size:
1,190 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: CDRTF_HUMAN, Q96T59 (See protein sequence)
Recommended Name: CMT1A duplicated region transcript 15 protein  
Size: 188 amino acids; 20651 Da
Secondary accessions: B2RUU5

Explore the universe of human proteins at neXtProt for CDRT15: NX_Q96T59

Explore proteomics data for CDRT15 at MOPED


See CDRT15 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001007531.1  
ENSEMBL proteins: 
 ENSP00000402355   ENSP00000399575  

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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: Q96T59


(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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDRT15


(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 COMPARTMENTS: 

CompartmentConfidence
extracellular2
cytosol1
mitochondrion1
nucleus1
peroxisome1

(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 CDRT15
Interactions:

    Search GeneGlobe Interaction Network for CDRT15

1 Interacting protein for CDRT15 (Q96T592) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
--P310162MINT-8108722
About this table

(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 CDRT15 (CDRTF)



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for CDRT15 gene: 
NM_001007530.1  

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000420162(uc010vvu.2) ENST00000431716
miRNA
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Primer
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  QuantiFast Probe-based Assays in human, mouse, rat CDRT15

2 AceView cDNA sequences:

BC071823 BU567332 

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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CDRT15 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CCACCACCTG
CDRT15 Expression
About this image

CDRT15 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CDRT15 Protein Expression

UniProtKB/Swiss-Prot: CDRTF_HUMAN, Q96T59
Tissue specificity: Expressed in fetal heart, kidney, liver, lung and spleen

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDRT15

(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 human and chimp.

Orthologs for CDRT15 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia CDRT151 CMT1A duplicated region transcript 15 97.34(n)
95.21(a)
  747212  XM_001170574.2  XP_001170574.1 


ENSEMBL Gene Tree for CDRT15 (if available)
TreeFam Gene Tree for CDRT15 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CDRT15 gene
CDRT15L22  

CDRT15 for paralogs           About GeneDecksing



(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 CDRT15 (see all 87)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1998163151,2
C--14138793(+) CCTCTG/TTCCAC 1 -- ds50010--------
rs1493243451,2
--14138816(+) AGTCAA/CAACAG 1 -- ds50010--------
rs1999324581,2
C--14138822(+) AACAGG/TCAAGA 1 -- ds50010--------
rs3728770171,2
C--14139099(+) CACAAC/TGCTGT 1 -- ds50010--------
rs1483290661,2
C,F--14139191(+) CCGGGC/GAGCAC 2 L syn11Minor allele frequency- G:0.15EU 157
rs1386050971,2
C--14139235(+) GACCCG/ACATCC 2 /R /W mis11Minor allele frequency- A:0.00NA 4382
rs1403048191,2
C,F--14139256(+) GAGGAG/TGTTGC 2 I L mis11Minor allele frequency- T:0.00NA 4452
rs798537731,2
C,F--14139300(+) TTCCCA/GGCCTT 2 P L mis13Minor allele frequency- G:0.01NA EU 5745
rs1508256941,2
C,F--14139347(+) AACCAG/AGATCA 1 -- int11Minor allele frequency- A:0.01EU 1045
rs72128961,2
C,F,H--14139363(+) ATAAAC/TGGACC 1 -- int13Minor allele frequency- T:0.05NS NA 222

HapMap Linkage Disequilibrium report for CDRT15 (14138990 - 14140179 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for CDRT15: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CDRT15
DNA2.0 Custom Variant and Variant Library Synthesis for CDRT15

(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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CDRT15 for disorders           About GeneDecksing

Genetic Association Database (GAD): CDRT15

Export disorders for CDRT15 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 CDRT15 gene integrated from 10 sources:
(articles sorted by number of sources associating them with CDRT15)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. (PubMed id 11381029)1, 2, 3 Inoue K.... Birren B. (Genome Res. 2001)
  2. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (EMBO Rep. 2010)
  3. 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)
  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)

(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: 146822 HGNC: 14395 AceView: LOC146822 Ensembl:ENSG00000223510 euGenes: HUgn146822
ECgene: CDRT15 H-InvDB: CDRT15

(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 CDRT15 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 CDRT15 gene:
Search GeneIP for patents involving CDRT15

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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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