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

Gene ID: 284040, updated on 24-Nov-2020

Summary

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

Genomic context

See CDRT4 in Genome Data Viewer
Location:
17p12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (15436015..15467621, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (15339332..15370925, 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

Expression

  • 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

Phenotypes

Associated conditions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
CMT1A duplicated region transcript 4 protein

NCBI Reference Sequences (RefSeq)

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_001204477.2NP_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:12148
    CDRT4; CMT1A duplicated region transcript 4 protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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.
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