Aliases for CDRT15 Gene

Aliases for CDRT15 Gene

  • CMT1A Duplicated Region Transcript 15 2 3 5
  • CMT1A Duplicated Region Transcript 15 Protein 3 4

External Ids for CDRT15 Gene

Previous GeneCards Identifiers for CDRT15 Gene

  • GC17U990296
  • GC17M014083
  • GC17M014138

Summaries for CDRT15 Gene

GeneCards Summary for CDRT15 Gene

CDRT15 (CMT1A Duplicated Region Transcript 15) is a Protein Coding gene. Diseases associated with CDRT15 include Neuropathy, Hereditary, With Liability To Pressure Palsies and Charcot-Marie-Tooth Disease. An important paralog of this gene is CDRT15L2.

Additional gene information for CDRT15 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDRT15 Gene

Genomics for CDRT15 Gene

GeneHancer (GH) Regulatory Elements for CDRT15 Gene

Promoters and enhancers for CDRT15 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J014236 Promoter 0.3 EPDnew 500.7 0.0 -20 0.1 CDRT15 piR-40217-002 lnc-COX10-9-001
GH17J014068 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 25.7 +167.1 167106 3.5 RXRA ZBTB40 ZNF217 EP300 SIN3A TCF12 POLR2G SP1 PHF8 ZFX COX10-AS1 COX10 CDRT15 CDRT15P1 RPS18P12 piR-50437-271
GH17J014019 Enhancer 0.7 Ensembl 27.2 +217.3 217261 0.8 CTBP1 PBX2 FOSL1 TAL1 FOXK2 TCF12 EGR1 MITF RXRA ETV1 CDRT15 lnc-COX10-2 piR-43103-022 COX10-AS1
GH17J014196 Enhancer 0.9 FANTOM5 ENCODE 17.8 +36.6 36593 8.4 CTCF CTBP1 MXI1 TCF7L2 NCOR1 SPI1 ZFHX2 TAL1 KLF17 ZNF843 CDRT15 COX10 CDRT15P1 ENSG00000266378 HS3ST3B1 AB372671-002 HSALNG0114709
GH17J014205 Enhancer 0.8 ENCODE 17.5 +30.7 30652 1.2 ZNF217 CLOCK RFX1 CTBP1 FOXA2 HCFC1 HES1 SIN3A MYC CTCF CDRT15 COX10-AS1 ENSG00000266378 HSALNG0114709 AB372671-002 COX10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDRT15 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDRT15

Top Transcription factor binding sites by QIAGEN in the CDRT15 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • E47
  • FOXO1
  • FOXO1a
  • GATA-1
  • NF-1
  • RSRFC4
  • Tal-1

Genomic Locations for CDRT15 Gene

Genomic Locations for CDRT15 Gene
chr17:14,235,673-14,236,862
(GRCh38/hg38)
Size:
1,190 bases
Orientation:
Minus strand
chr17:14,138,990-14,140,179
(GRCh37/hg19)
Size:
1,190 bases
Orientation:
Minus strand

Genomic View for CDRT15 Gene

Genes around CDRT15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDRT15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDRT15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDRT15 Gene

Proteins for CDRT15 Gene

  • Protein details for CDRT15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T59-CDRTF_HUMAN
    Recommended name:
    CMT1A duplicated region transcript 15 protein
    Protein Accession:
    Q96T59
    Secondary Accessions:
    • B2RUU5

    Protein attributes for CDRT15 Gene

    Size:
    188 amino acids
    Molecular mass:
    20651 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CDRT15 Gene

Post-translational modifications for CDRT15 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CDRT15 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CDRT15 Gene

Domains & Families for CDRT15 Gene

Gene Families for CDRT15 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CDRT15 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CDRT15 Gene

GenScript: Design optimal peptide antigens:
  • CMT1A duplicated region transcript 15 protein (CDRTF_HUMAN)
genes like me logo Genes that share domains with CDRT15: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CDRT15 Gene

Function for CDRT15 Gene

Phenotypes From GWAS Catalog for CDRT15 Gene

Phenotypes for CDRT15 Gene

genes like me logo Genes that share phenotypes with CDRT15: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CDRT15 Gene

Localization for CDRT15 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDRT15 gene
Compartment Confidence
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CDRT15 Gene

Pathways & Interactions for CDRT15 Gene

PathCards logo

SuperPathways for CDRT15 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CDRT15 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CDRT15 Gene

Drugs & Compounds for CDRT15 Gene

No Compound Related Data Available

Transcripts for CDRT15 Gene

mRNA/cDNA for CDRT15 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDRT15 Gene

No ASD Table

Relevant External Links for CDRT15 Gene

GeneLoc Exon Structure for
CDRT15

Expression for CDRT15 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDRT15 Gene

mRNA differential expression in normal tissues according to GTEx for CDRT15 Gene

This gene is overexpressed in Testis (x33.5).

Protein differential expression in normal tissues from HIPED for CDRT15 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CDRT15 Gene



Protein tissue co-expression partners for CDRT15 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDRT15

SOURCE GeneReport for Unigene cluster for CDRT15 Gene:

Hs.735172

mRNA Expression by UniProt/SwissProt for CDRT15 Gene:

Q96T59-CDRTF_HUMAN
Tissue specificity: Expressed in fetal heart, kidney, liver, lung and spleen.
genes like me logo Genes that share expression patterns with CDRT15: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDRT15 Gene

Orthologs for CDRT15 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for CDRT15 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDRT15 31 30
  • 97.34 (n)
OneToOne
Species where no ortholog for CDRT15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CDRT15 Gene

ENSEMBL:
Gene Tree for CDRT15 (if available)
TreeFam:
Gene Tree for CDRT15 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDRT15: view image

Paralogs for CDRT15 Gene

Paralogs for CDRT15 Gene

Pseudogenes.org Pseudogenes for CDRT15 Gene

genes like me logo Genes that share paralogs with CDRT15: view

Variants for CDRT15 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDRT15 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs17679866 - p.Arg24Gln

Additional dbSNP identifiers (rs#s) for CDRT15 Gene

Structural Variations from Database of Genomic Variants (DGV) for CDRT15 Gene

Variant ID Type Subtype PubMed ID
esv3640020 CNV loss 21293372
esv3640021 CNV gain 21293372
nsv1056267 CNV gain 25217958
nsv1150083 CNV duplication 26484159
nsv574377 CNV gain 21841781
nsv960416 CNV duplication 23825009

Variation tolerance for CDRT15 Gene

Residual Variation Intolerance Score: 88.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.08; 50.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDRT15 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDRT15

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDRT15 Gene

Disorders for CDRT15 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CDRT15 Gene - From: DISEASES

Disorder Aliases PubMed IDs
neuropathy, hereditary, with liability to pressure palsies
  • hnpp
charcot-marie-tooth disease
  • peroneal muscular atrophy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CDRT15

genes like me logo Genes that share disorders with CDRT15: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDRT15 Gene

Publications for CDRT15 Gene

  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. (PMID: 11381029) Inoue K … Birren B (Genome research 2001) 2 3 4 54
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 54
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 54

Products for CDRT15 Gene

Sources for CDRT15 Gene