Aliases for CDRT4 Gene

Aliases for CDRT4 Gene

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

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. Diseases associated with CDRT4 include Podoconiosis and Elephantiasis. Gene Ontology (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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDRT4 Gene

Genomics for CDRT4 Gene

GeneHancer (GH) Regulatory Elements for CDRT4 Gene

Promoters and enhancers for CDRT4 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
GH17J015429 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 513.4 +68.8 68782 10 CTCF ZSCAN5C POLR2G NCOR1 FOS KDM6A TCF7 SKI TEAD1 FOXA2 CDRT4 piR-33392 TEKT3 RNU6-799P PPIAP53 lnc-CDRT4-3 RPL9P2 TVP23C-CDRT4 lnc-CDRT4-2
GH17J015501 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 529.5 +0.9 925 1.6 CTCF REST RAD21 SMC3 ZBTB17 NR3C1 YY1 STAT3 TAF15 ZNF654 CDRT4 piR-46896 ENSG00000237377 ENSG00000230971 PMP22 TEKT3 TVP23C CDRT1 piR-50744 TVP23C-CDRT4
GH17J015467 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 521.3 +34.4 34417 3.2 REST FOXP2 RCOR1 GLIS1 ZKSCAN1 ATF2 CDRT4 CDRT3-001 lnc-TVP23C-4 TVP23C TVP23C-CDRT4 lnc-CDRT4-2
GH17J015440 Promoter/Enhancer 1 EPDnew Ensembl 511.6 +62.3 62308 2.2 JUN SPI1 FOSL1 FOS TAL1 GATA2 DPF2 SMARCE1 POLR2A ATF3 CDRT4 RPL9P2 piR-33392 TVP23C-CDRT4 lnc-CDRT4-2
GH17J015475 Promoter/Enhancer 0.8 EPDnew Ensembl 500.3 +27.8 27807 0.8 FOS CEBPB EP300 TCF7L2 STAT3 lnc-ZNF286A-2 CDRT4 CDRT3-001 TVP23C-CDRT4 lnc-CDRT4-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDRT4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDRT4

Top Transcription factor binding sites by QIAGEN in the CDRT4 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • HNF-3beta
  • HSF1 (long)
  • HSF1short
  • JunB
  • JunD

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)
Size:
67,591 bases
Orientation:
Minus strand

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
    • D3DTT2
    • Q8IZ19

    Protein attributes for CDRT4 Gene

    Size:
    152 amino acids
    Molecular mass:
    17643 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:
  • CMT1A duplicated region transcript 4 protein (CDRT4_HUMAN)
genes like me logo Genes that share domains with CDRT4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CDRT4 Gene

Function for CDRT4 Gene

Phenotypes From GWAS Catalog for CDRT4 Gene

Gene Ontology (GO) - Molecular Function for CDRT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CDRT4: view
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) , 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

PathCards logo

SuperPathways for CDRT4 Gene

No Data Available

Interacting Proteins for CDRT4 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q8N9R6-CDRT4_HUMAN ENSP00000482523 for CDRT4 Gene via UniProtKB STRING IID

;

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

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

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

Expression for CDRT4 Gene

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

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 98.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CDRT4 31 30
  • 77.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CDRT4 31 30
  • 70.72 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cdrt4 30
  • 64.43 (n)
mouse
(Mus musculus)
Mammalia Cdrt4 17 31 30
  • 63.18 (n)
oppossum
(Monodelphis domestica)
Mammalia CDRT4 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CDRT4: view image

Paralogs for CDRT4 Gene

No data available for Paralogs for CDRT4 Gene

Variants for CDRT4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDRT4 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs2954759 - p.His122Gln
rs3744332 - p.Val73Ile

Additional dbSNP identifiers (rs#s) for CDRT4 Gene

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

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

Variation tolerance for CDRT4 Gene

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

Additional Variant Information for CDRT4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CDRT4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CDRT4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
podoconiosis
  • podoconiosis, susceptibility to
elephantiasis
berylliosis
  • beryllium poisoning
- elite association - COSMIC cancer census association via MalaCards
Search CDRT4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CDRT4

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

No data available for 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 54
  2. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PMID: 17903307) Wilk JB … O'Connor GT (BMC medical genetics 2007) 3 41 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 54
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 54

Products for CDRT4 Gene

Sources for CDRT4 Gene