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Aliases for CDRT4 Gene

Aliases for CDRT4 Gene

  • CMT1A Duplicated Region Transcript 4 2 3 5

External Ids for CDRT4 Gene

Previous GeneCards Identifiers for CDRT4 Gene

  • GC17U990288
  • GC17M015281
  • GC17M015340
  • GC17M015344
  • GC17M015351

Summaries for CDRT4 Gene

GeneCards Summary for CDRT4 Gene

CDRT4 (CMT1A Duplicated Region Transcript 4) is a Protein Coding gene. GO annotations related to this gene include DNA-directed 5-3 RNA polymerase activity.

Additional gene information for CDRT4 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDRT4 Gene

Genomics for CDRT4 Gene

Regulatory Elements for CDRT4 Gene

Enhancers for CDRT4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H015490 1.5 FANTOM5 Ensembl ENCODE 35.4 +12.3 12322 2.3 ATF1 TCF12 CBX5 GATA2 FOS ATF7 NCOA1 ZNF592 SMARCA4 MYNN CDRT4 PMP22 ENSG00000230971 ENSG00000237377 TVP23C CDRT1 PIR44743 PIR38416 GC17M015492
GH17H016406 1.9 FANTOM5 Ensembl ENCODE dbSUPER 23.7 -904.1 -904103 2.2 HDGF ZNF493 ZFP64 SIN3A FEZF1 YBX1 ZNF121 GLIS2 ZNF207 KLF7 PIGL PPIAP53 NCOR1 ENSG00000266538 TVP23C MPRIP-AS1 LOC644422 ZNF286A ENSG00000264729 MEIS3P1
GH17H015501 1 Ensembl ENCODE 29.6 +0.9 888 1.7 HDGF CTCF RAD21 CC2D1A ZNF366 SMC3 ZNF143 ETV6 RUNX3 MAZ CDRT4 ENSG00000237377 ENSG00000230971 PMP22 TEKT3 TVP23C CDRT1 GC17M015492 PIR44743
GH17H016484 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -984.6 -984556 7.7 HDAC1 NFIB ZSCAN4 KLF17 TCF12 GLIS2 GATA2 SCRT2 EGR2 MCM3 ZNF286A ENSG00000266538 PPIAP53 PIGL MPRIP-AS1 MEIS3P1 ENSG00000265519 TVP23C CDRT4 TTC19
GH17H015562 0.9 ENCODE 22.5 -59.9 -59893 1.2 ATF1 NFRKB ARID4B ZNF76 KLF17 SIN3A DMAP1 ZBTB40 ZSCAN9 GLIS2 CDRT4 TVP23C TVP23C-CDRT4 ENSG00000266538
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CDRT4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CDRT4 Gene

Genomic Locations for CDRT4 Gene
chr17:15,436,015-15,503,608
(GRCh38/hg38)
Size:
67,594 bases
Orientation:
Minus strand
chr17:15,339,332-15,406,922
(GRCh37/hg19)

Genomic View for CDRT4 Gene

Genes around CDRT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDRT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDRT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDRT4 Gene

Proteins for CDRT4 Gene

  • Protein details for CDRT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9R6-CDRT4_HUMAN
    Recommended name:
    CMT1A duplicated region transcript 4 protein
    Protein Accession:
    Q8N9R6
    Secondary Accessions:
    • A8MSL9
    • Q8IZ19

    Protein attributes for CDRT4 Gene

    Size:
    151 amino acids
    Molecular mass:
    17514 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CDRT4 Gene

Post-translational modifications for CDRT4 Gene

No Post-translational modifications

Other Protein References for CDRT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CDRT4 Gene

Domains & Families for CDRT4 Gene

Gene Families for CDRT4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CDRT4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDRT4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CDRT4: view

No data available for UniProtKB/Swiss-Prot for CDRT4 Gene

Function for CDRT4 Gene

Phenotypes From GWAS Catalog for CDRT4 Gene

Phenotypes for CDRT4 Gene

genes like me logo Genes that share phenotypes with CDRT4: view

miRNA for CDRT4 Gene

miRTarBase miRNAs that target CDRT4

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CDRT4 Gene

Localization for CDRT4 Gene

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for CDRT4 Gene

Pathways & Interactions for CDRT4 Gene

SuperPathways for CDRT4 Gene

No Data Available

Interacting Proteins for CDRT4 Gene

Selected Interacting proteins: Q8N9R6-CDRT4_HUMAN for CDRT4 Gene via IID

Symbol External ID(s) Details
SORT1
VAC14

Gene Ontology (GO) - Biological Process for CDRT4 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CDRT4 Gene

Drugs & Compounds for CDRT4 Gene

No Compound Related Data Available

Transcripts for CDRT4 Gene

mRNA/cDNA for CDRT4 Gene

Unigene Clusters for CDRT4 Gene

CMT1A duplicated region transcript 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDRT4 Gene

No ASD Table

Relevant External Links for CDRT4 Gene

GeneLoc Exon Structure for
CDRT4
ECgene alternative splicing isoforms for
CDRT4

Expression for CDRT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDRT4 Gene

mRNA differential expression in normal tissues according to GTEx for CDRT4 Gene

This gene is overexpressed in Testis (x41.6).

NURSA nuclear receptor signaling pathways regulating expression of CDRT4 Gene:

CDRT4

SOURCE GeneReport for Unigene cluster for CDRT4 Gene:

Hs.731765

mRNA Expression by UniProt/SwissProt for CDRT4 Gene:

Q8N9R6-CDRT4_HUMAN
Tissue specificity: Expressed in fetal skeletal muscle and kidney.

Evidence on tissue expression from TISSUES for CDRT4 Gene

  • Nervous system(2.9)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with CDRT4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDRT4 Gene

Orthologs for CDRT4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CDRT4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDRT4 33 34
  • 98.9 (n)
dog
(Canis familiaris)
Mammalia CDRT4 33 34
  • 77.7 (n)
cow
(Bos Taurus)
Mammalia CDRT4 33 34
  • 70.72 (n)
rat
(Rattus norvegicus)
Mammalia Cdrt4 33
  • 64.43 (n)
mouse
(Mus musculus)
Mammalia Cdrt4 33 16 34
  • 63.18 (n)
oppossum
(Monodelphis domestica)
Mammalia CDRT4 34
  • 42 (a)
OneToOne
Species where no ortholog for CDRT4 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 CDRT4 Gene

ENSEMBL:
Gene Tree for CDRT4 (if available)
TreeFam:
Gene Tree for CDRT4 (if available)

Paralogs for CDRT4 Gene

No data available for Paralogs for CDRT4 Gene

Variants for CDRT4 Gene

Sequence variations from dbSNP and Humsavar for CDRT4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000158031 -- 15,439,509(+) CTCCA(A/G)GCAAA intron-variant
rs1000226932 -- 15,453,979(+) CTGTT(A/G)TCATC intron-variant
rs1000489409 -- 15,441,101(+) ATATT(C/T)GATTT intron-variant
rs1000490720 -- 15,457,580(+) GCTGC(A/G)ACGTG intron-variant
rs1000530934 -- 15,445,803(+) CTGCA(A/C)GGCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CDRT4 Gene

Variant ID Type Subtype PubMed ID
nsv978367 CNV duplication 23825009
nsv1992 CNV insertion 18451855
esv4023 CNV loss 18987735
esv3640073 CNV gain 21293372
esv3640072 CNV loss 21293372
esv3640071 CNV gain 21293372
esv3640070 CNV loss 21293372
esv3554192 CNV deletion 23714750
esv2346287 CNV deletion 18987734
dgv1694e59 CNV duplication 20981092

Variation tolerance for CDRT4 Gene

Gene Damage Index Score: 1.71; 32.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CDRT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDRT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDRT4 Gene

Disorders for CDRT4 Gene

Relevant External Links for CDRT4

Genetic Association Database (GAD)
CDRT4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDRT4

No disorders were found for CDRT4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CDRT4 Gene

Publications for CDRT4 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 60
  2. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PMID: 17903307) Wilk JB … O'Connor GT (BMC medical genetics 2007) 3 45 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 60

Products for CDRT4 Gene

Sources for CDRT4 Gene

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