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DYTN dystrotelin [ Homo sapiens (human) ]

Gene ID: 391475, updated on 5-Mar-2024


Official Symbol
DYTNprovided by HGNC
Official Full Name
dystrotelinprovided by HGNC
Primary source
See related
Ensembl:ENSG00000232125 MIM:618510; AllianceGenome:HGNC:23279
Gene type
protein coding
RefSeq status
Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Low expression observed in reference dataset See more
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Genomic context

Exon count:
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (206651621..206718396, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (207133738..207200502, complement)
105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 12269 Neighboring gene ADAM metallopeptidase domain 23 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:207448893-207450092 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:207479308-207480507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:207506401-207506982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:207506983-207507562 Neighboring gene family with sequence similarity 237 member A Neighboring gene VPS26C pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17028 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:207634423-207635622 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


  • 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


Products Interactant Other Gene Complex Source Pubs Description

General gene information


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
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
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)
    Consensus CDS
    ENSP00000396593.2, ENST00000452335.2
    Conserved Domains (3) summary
    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 ...
    EF-hand_2; EF hand
    EF-hand_3; EF-hand

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


  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0


  1. NC_060926.1 Alternate T2T-CHM13v2.0

    207133738..207200502 complement
    GenBank, FASTA, Sequence Viewer (Graphics)