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TRDN triadin [ Homo sapiens (human) ]

Gene ID: 10345, updated on 12-Nov-2022

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
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Genomic context

See TRDN in Genome Data Viewer
Location:
6q22.31
Exon count:
42
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (123216339..123636950, complement)
110 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 uncharacterized LOC124901393 Neighboring gene uncharacterized LOC105377984 Neighboring gene uncharacterized LOC105377982 Neighboring gene TRDN antisense RNA 1 Neighboring gene uncharacterized LOC105377981 Neighboring gene sodium/potassium transporting ATPase interacting 2 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

Homology

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 cellular calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
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
PubMed 
involved_in heart contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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/Swiss-Prot
    Q13061
    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, ENST00000546248.5
    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
  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
    Q13061, Q6NSB8
    Related
    ENSP00000333984.5, ENST00000334268.9
    Conserved Domains (1) summary
    PTZ00121
    Location:428672
    PTZ00121; MAEBL; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)