Sign in to NCBI
Format

Send to:

Choose Destination

CDRT4 CMT1A duplicated region transcript 4 [ Homo sapiens (human) ]

Gene ID: 284040, updated on 23-Nov-2021

Summary

Go to the top of the page Help
Official Symbol
CDRT4provided by HGNC
Official Full Name
CMT1A duplicated region transcript 4provided by HGNC
Primary source
HGNC:HGNC:14383
See related
Ensembl:ENSG00000239704
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in testis (RPKM 6.9), skin (RPKM 5.8) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See CDRT4 in Genome Data Viewer
Location:
17p12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (15436015..15467621, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (15339332..15370935, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 799, pseudogene Neighboring gene tektin 3 Neighboring gene RNA, 7SL, cytoplasmic 792, pseudogene Neighboring gene TVP23C-CDRT4 readthrough Neighboring gene ribosomal protein L9 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 550 Neighboring gene CMT1A duplicated region transcript 3

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Framingham Heart Study genome-wide association: results for pulmonary function measures. Wilk JB, et al. BMC Med Genet, 2007 Sep 19. PMID 17903307, Free PMC Article
  2. 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. Inoue K, et al. Genome Res, 2001 Jun. PMID 11381029, Free PMC Article
  3. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article
  4. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Hein MY, et al. Cell, 2015 Oct 22. PMID 26496610

See all (10) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Framingham Heart Study genome-wide association: results for pulmonary function measures.
GeneReviews: Not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Readthrough TVP23C-CDRT4

Readthrough gene: TVP23C-CDRT4, Included gene: TVP23C

Homology

Clone Names

  • FLJ36674, MGC33988

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
CMT1A duplicated region transcript 4 protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001204477.2 → NP_001191406.1  CMT1A duplicated region transcript 4 protein

    See identical proteins and their annotated locations for NP_001191406.1

    Status: VALIDATED

    Source sequence(s)
    AC005517, AK172733, BC029542, BM971397, BX379636, DB105410
    Consensus CDS
    CCDS73995.1
    UniProtKB/Swiss-Prot
    Q8N9R6
    UniProtKB/TrEMBL
    D3DTT2
    Related
    ENSP00000482523.1, ENST00000619038.5
    Conserved Domains (1) summary
    pfam15213
    Location:12 → 148
    CDRT4; CMT1A duplicated region transcript 4 protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    15436015..15467621 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173622.3: Suppressed sequence

    Description
    NM_173622.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N9R6.3 GenPept UniProtKB/Swiss-Prot:Q8N9R6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous
You are here: NCBI > Genes & Expression > Gene
Support Center