DYTN (dystrotelin)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 391475
Gene name Dystrotelin
Gene symbol DYTN
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q33.3
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 g
miRNA miRNA information provided by mirtarbase database.
6
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT1981407 hsa-miR-19a CLIP-seq
MIRT1981408 hsa-miR-19b CLIP-seq
MIRT2520372 hsa-miR-1264 CLIP-seq
MIRT2520373 hsa-miR-374c CLIP-seq
MIRT2520374 hsa-miR-582-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0008270 Function Zinc ion binding IEA
GO:0016020 Component Membrane IEA
GO:0045202 Component Synapse IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618510 23279 ENSG00000232125
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A2CJ06
Protein name Dystrotelin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09068 EF-hand_2 4 → 118 EF hand Domain
PF09069 EF-hand_3 123 → 217 EF-hand Domain
PF00569 ZZ 222 → 267 Zinc finger, ZZ type Domain
Sequence 
MDPDKQDALNSIENSIYRTAFKLQSVQTLCQLDLIDSSLIQQVLLRPSFWEARKHSLSVQ
QLSQALQELFQKAREENPGQVHPRAPELTLSLLTTMYNSKGTGFLQLMPAAAALITLSGD
SPLSKYRALFQLYAENSRGGYDSGPRMTRRVLRKLLTDLQQIPTFVGESRALCPVESATR
SCFQGVLSPAIKEEKFLSWVQSEPPILLWLPTCHRLSAAERVTHPARCTLCRTFPITGLR
YRCLKCLNFDICQMCFLSGLHSKSHQKSHPVIEHCIQMSAMQNTKLLFRTLRNNLLQGRC
RKKEAARRQQLLDQVNPKGVPHHAQARLLKKQLNQYKDKLQAIYTSQEERICRFETRIHK
LKTNQDSLWTKLQQIRRDLQARLQPPGPSSSSFQNVGNKVDHSSTEKVPKGGDYLQIKNA
TEDASTGEPLPKLDEVDRSHRSHTNAEHALRNPESPETTLHSTRAQSQTQKMPQKVISAL
PSYQEGLKQDIPKMVPAEMSSPALAAVEKKEAGNIKERKDELEEEELQELLSKLMDAFNL
ETPSGPESSVNMDLYSGAQRVCRAFSALVDQIALPNLK
Sequence length 578
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SPONDYLOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations