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DYTN dystrotelin [ Homo sapiens (human) ]

Gene ID: 391475, updated on 23-Nov-2021

Summary

Official Symbol
DYTNprovided by HGNC
Official Full Name
dystrotelinprovided by HGNC
Primary source
HGNC:HGNC:23279
See related
Ensembl:ENSG00000232125 MIM:618510
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
Summary
This gene belongs to the dystrophin superfamily, which is characterized by the presence of four EF-hand motifs and a ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous actin hexagon' gene. It is noteworthy that the coding region of this gene lacks two coding exons that are found in the mouse ortholog. Human transcripts including these two exons are subject to nonsense-mediated transcript decay (NMD). On the other hand, transcripts skipping the two coding exons are expressed at very low levels. While this gene maintains an intact CDS, it may be an evolving pseudogene. However, after a discussion about this gene within the RefSeq group, as well as in the consensus coding sequence (CCDS) collaboration, it was decided to keep it as a protein-coding gene in the RefSeq, Ensembl-GENCODE and the CCDS sets. [provided by RefSeq, Jul 2019]
Annotation information
Note: Although the evidence for the protein-coding potential of this gene is not unambiguous, RefSeq has erred on the side of annotating it as a protein-coding gene. [25 Jul 2019]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See DYTN in Genome Data Viewer
Location:
2q33.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (206651621..206718396, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (207516345..207583120, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase domain 23 Neighboring gene family with sequence similarity 237 member A Neighboring gene VPS26C pseudogene 1 Neighboring gene malate dehydrogenase 1B Neighboring gene FAST kinase domains 2 Neighboring gene microRNA 3130-1 Neighboring gene microRNA 3130-2

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in synaptic signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

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_001093730.1NP_001087199.1  dystrotelin

    See identical proteins and their annotated locations for NP_001087199.1

    Status: VALIDATED

    Source sequence(s)
    DQ516347
    Consensus CDS
    CCDS46502.1
    UniProtKB/Swiss-Prot
    A2CJ06
    Related
    ENSP00000396593.2, ENST00000452335.2
    Conserved Domains (3) summary
    cd02334
    Location:226274
    ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
    pfam09068
    Location:9118
    EF-hand_2; EF hand
    pfam09069
    Location:125217
    EF-hand_3; EF-hand

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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    206651621..206718396 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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