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    TRDN triadin [ Homo sapiens (human) ]

    Gene ID: 10345, updated on 9-Jun-2024

    Summary

    Official Symbol
    TRDNprovided by HGNC
    Official Full Name
    triadinprovided by HGNC
    Primary source
    HGNC:HGNC:12261
    See related
    Ensembl:ENSG00000186439 MIM:603283; AllianceGenome:HGNC:12261
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TDN; CPVT5; TRISK; CARDAR
    Summary
    This gene encodes an integral membrane protein found in skeletal and cardiac muscle. The encoded protein plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex and is required for normal skeletal muscle strength. This protein indirectly links triads and microtubules in skeletal muscle. Mutations in this gene are associated with cardiac arrythmia syndrome and some variants in this gene may be associated with sudden cardiac death. [provided by RefSeq, May 2022]
    Expression
    Biased expression in heart (RPKM 24.6), prostate (RPKM 6.0) and 2 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TRDN in Genome Data Viewer
    Location:
    6q22.31
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (123216339..123636950, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (124404293..124824746, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (123537484..123958095, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901392 Neighboring gene clavesin 2 Neighboring gene NANOG hESC enhancer GRCh37_chr6:123597774-123598309 Neighboring gene uncharacterized LOC124901393 Neighboring gene uncharacterized LOC105377984 Neighboring gene MPRA-validated peak6085 silencer Neighboring gene uncharacterized LOC105377982 Neighboring gene MPRA-validated peak6087 silencer Neighboring gene TRDN antisense RNA 1 Neighboring gene uncharacterized LOC105377981 Neighboring gene MPRA-validated peak6091 silencer Neighboring gene MPRA-validated peak6092 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25025 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:124237778-124238627 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:124287082-124287615 Neighboring gene sodium/potassium transporting ATPase interacting 2 Neighboring gene NANOG hESC enhancer GRCh37_chr6:124350663-124351164 Neighboring gene NANOG hESC enhancer GRCh37_chr6:124410214-124410715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:124669617-124670116 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:125004573-125005172 Neighboring gene MPRA-validated peak6095 silencer Neighboring gene MPRA-validated peak6096 silencer Neighboring gene MPRA-validated peak6097 silencer Neighboring gene MPRA-validated peak6098 silencer Neighboring gene MPRA-validated peak6100 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:125276459-125277048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:125277049-125277637 Neighboring gene RNF217 antisense RNA 1 (head to head) Neighboring gene ring finger protein 217

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC88285, DKFZp779I2253

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane transporter binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cytoplasmic microtubule organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endoplasmic reticulum membrane organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heart contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of ryanodine-sensitive calcium-release channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cell communication by electrical coupling involved in cardiac conduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of ryanodine-sensitive calcium-release channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of ryanodine-sensitive calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of ryanodine-sensitive calcium-release channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cardiac muscle cell membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cardiac muscle cell membrane potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell communication by electrical coupling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of release of sequestered calcium ion into cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of junctional membrane complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in junctional sarcoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in junctional sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in junctional sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sarcoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    triadin
    Names
    triadin in skeletal muscle

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_030438.1 RefSeqGene

      Range
      5144..425755
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001251987.2NP_001238916.1  triadin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR, uses an alternate splice site in the 5' coding region, and lacks a large portion of the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AJ489257, AK307619, AL357352, BE646014
      Consensus CDS
      CCDS93997.1
      UniProtKB/TrEMBL
      A0A590UJV0, Q8IVK2
      Related
      ENSP00000499585.1, ENST00000662930.1
    2. NM_001256020.2NP_001242949.1  triadin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several 3' exons but contains an alternate 3' end, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct and significantly shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AA401295, AL445259, BC139910
      Consensus CDS
      CCDS59034.1
      UniProtKB/TrEMBL
      A8K752
      Related
      ENSP00000486095.1, ENST00000628709.2
      Conserved Domains (1) summary
      pfam05279
      Location:5073
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    3. NM_001256021.2NP_001242950.1  triadin isoform 4

      See identical proteins and their annotated locations for NP_001242950.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks several 3' exons but contains an alternate 3' end, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4, also known as Trisk 32) has a distinct and significantly shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AA401295, AI371054, AL445259, JN900469
      Consensus CDS
      CCDS75511.1
      UniProtKB/TrEMBL
      H9ME53
      Related
      ENSP00000439281.2, ENST00000546248.6
      Conserved Domains (1) summary
      pfam05279
      Location:5073
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    4. NM_001256022.2NP_001242951.1  triadin isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks several 3' exons but contains an alternate 3' exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (5) has a distinct and significantly shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AL445259, BC070290
      Consensus CDS
      CCDS59035.1
      UniProtKB/Swiss-Prot
      Q13061
      Related
      ENSP00000437684.1, ENST00000542443.5
      Conserved Domains (1) summary
      pfam05279
      Location:5073
      Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    5. NM_001407315.1NP_001394244.1  triadin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL133257, AL357352, AL445259
      UniProtKB/TrEMBL
      Q8IVK2
    6. NM_006073.4NP_006064.2  triadin isoform 1

      See identical proteins and their annotated locations for NP_006064.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA401295, AI375093, AK307619, AL357352, AL603902, BC012590, BM678702, U18985
      Consensus CDS
      CCDS55053.1
      UniProtKB/Swiss-Prot
      A5D6W5, F5H2W7, Q13061, Q6NSB8
      Related
      ENSP00000333984.5, ENST00000334268.9
      Conserved Domains (1) summary
      PTZ00121
      Location:428672
      PTZ00121; MAEBL; Provisional

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      123216339..123636950 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      124404293..124824746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)