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

Gene ID: 284040, updated on 5-Mar-2024

Summary

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Official Symbol
CDRT4provided by HGNC
Official Full Name
CMT1A duplicated region transcript 4provided by HGNC
Primary source
HGNC:HGNC:14383
See related
Ensembl:ENSG00000239704 AllianceGenome:HGNC:14383
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
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Genomic context

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Location:
17p12
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (15436015..15467621, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (15342066..15373671, complement)
105.20220307 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 uncharacterized LOC124903932 Neighboring gene RNA, U6 small nuclear 799, pseudogene Neighboring gene tektin 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15313079-15313579 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15320989-15321490 Neighboring gene RNA, 7SL, cytoplasmic 792, pseudogene Neighboring gene TVP23C-CDRT4 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15351635-15352136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:15352137-15352636 Neighboring gene ribosomal protein L9 pseudogene 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:15393660-15394859 Neighboring gene CMT1A duplicated region transcript 3 Neighboring gene trans-golgi network vesicle protein 23 homolog C Neighboring gene peptidylprolyl isomerase A pseudogene 53

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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

GeneRIFs: Gene References Into Functions

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Framingham Heart Study genome-wide association: results for pulmonary function measures.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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Preferred Names
CMT1A duplicated region transcript 4 protein

NCBI Reference Sequences (RefSeq)

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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
    A8MSL9, D3DTT2, Q8IZ19, Q8N9R6
    Related
    ENSP00000482523.1, ENST00000619038.5
    Conserved Domains (1) summary
    pfam15213
    Location:12 → 148
    CDRT4; CMT1A duplicated region transcript 4 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    15342066..15373671 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.

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