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    TRAK2 trafficking kinesin protein 2 [ Homo sapiens (human) ]

    Gene ID: 66008, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TRAK2provided by HGNC
    Official Full Name
    trafficking kinesin protein 2provided by HGNC
    Primary source
    HGNC:HGNC:13206
    See related
    Ensembl:ENSG00000115993 MIM:607334; AllianceGenome:HGNC:13206
    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
    Also known as
    GRIF1; MILT2; OIP98; CALS-C; GRIF-1; ALS2CR3
    Summary
    Predicted to enable GABA receptor binding activity and myosin binding activity. Predicted to be involved in several processes, including mitochondrion distribution; organelle transport along microtubule; and protein O-linked glycosylation. Predicted to be located in cytoplasm; nucleus; and plasma membrane. Predicted to be active in cytoplasmic vesicle; dendrite; and mitochondrion. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in heart (RPKM 26.1), thyroid (RPKM 23.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TRAK2 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201377207..201451458, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (201857884..201933333, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202241930..202316181, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16986 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:202122995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16989 Neighboring gene caspase 8 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:202153225 Neighboring gene flagellum associated containing coiled-coil domains 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202184683-202185184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202185185-202185684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16990 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202289002-202289502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202289503-202290003 Neighboring gene SCYL2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:202315536-202316390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12232 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:202329405-202329904 Neighboring gene STE20 related adaptor beta Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:202348230-202348988 Neighboring gene uncharacterized LOC124906113 Neighboring gene C2 calcium dependent domain containing 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Mitochondrial adaptor TRAK2 activates and functionally links opposing kinesin and dynein motors. Fenton AR, et al. Nat Commun, 2021 Jul 28. PMID 34321481, Free PMC Article
    2. Human Miltons associate with mitochondria and induce microtubule-dependent remodeling of mitochondrial networks. Koutsopoulos OS, et al. Biochim Biophys Acta, 2010 May. PMID 20230862
    3. miR-487b and TRAK2 that form an axis to regulate the aggressiveness of osteosarcoma, are potential therapeutic targets and prognostic biomarkers. Wang F, et al. J Biochem Mol Toxicol, 2020 Aug. PMID 32267991
    4. TRAK2, a novel regulator of ABCA1 expression, cholesterol efflux and HDL biogenesis. Lake NJ, et al. Eur Heart J, 2017 Dec 21. PMID 28655204, Free PMC Article
    5. Mapping the GRIF-1 binding domain of the kinesin, KIF5C, substantiates a role for GRIF-1 as an adaptor protein in the anterograde trafficking of cargoes. Smith MJ, et al. J Biol Chem, 2006 Sep 15. PMID 16835241

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mitochondrial adaptor TRAK2 activates and functionally links opposing kinesin and dynein motors.
      Title: Mitochondrial adaptor TRAK2 activates and functionally links opposing kinesin and dynein motors.
    2. miR-487b and TRAK2 that form an axis to regulate the aggressiveness of osteosarcoma, are potential therapeutic targets and prognostic biomarkers.
      Title: miR-487b and TRAK2 that form an axis to regulate the aggressiveness of osteosarcoma, are potential therapeutic targets and prognostic biomarkers.
    3. TRAK2 is a novel regulator of LXR-mediated ABCA1 expression, cholesterol efflux, and HDL biogenesis. TRAK2 may therefore be an important target in the development of anti-atherosclerotic therapies.
      Title: TRAK2, a novel regulator of ABCA1 expression, cholesterol efflux and HDL biogenesis.
    4. Full-length APC promotes assembly of the Miro-1/Milton-2 complex.
      Title: APC binds the Miro/Milton motor complex to stimulate transport of mitochondria to the plasma membrane.
    5. This study showed that the TRAK2 was more prevalent in dendrites of hippocampal neurons. In cortical neurons, TRAK2 was equally distributed between axons and dendrites.
      Title: Localization of the kinesin adaptor proteins trafficking kinesin proteins 1 and 2 in primary cultures of hippocampal pyramidal and cortical neurons.
    6. The results of this study established a key role for mammalian TRAK2 proteins in axonal and dendritic targeting of mitochondria.
      Title: TRAK/Milton motor-adaptor proteins steer mitochondrial trafficking to axons and dendrites.
    7. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    9. These data suggest that Miro1 and the kinesin adaptor Grif-1 play an important role in regulating mitochondrial transport in neurons.
      Title: GTPase dependent recruitment of Grif-1 by Miro1 regulates mitochondrial trafficking in hippocampal neurons.
    10. Binds to Kir2.1 and facilitates trafficking of this channel to the cell surface.
      Title: Identification of gamma-aminobutyric acid receptor-interacting factor 1 (TRAK2) as a trafficking factor for the K+ channel Kir2.1.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0549

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GABA receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GABA receptor binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables myosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anterograde axonal transport of mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrion distribution IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein targeting IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle transport along microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    trafficking kinesin-binding protein 2
    Names
    O-linked N-acetylglucosamine transferase interacting protein 98
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3
    amyotrophic lateral sclerosis 2 chromosomal region candidate gene 3 protein
    gamma-aminobutyric acid(A) receptor-interacting factor
    milton homolog 2
    trafficking protein, kinesin binding 2

    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_015049.3 → NP_055864.2  trafficking kinesin-binding protein 2

      See identical proteins and their annotated locations for NP_055864.2

      Status: VALIDATED

      Source sequence(s)
      AB011121, AB038951, AC007256, CA396280, DA314514, DA414989, DA575492
      Consensus CDS
      CCDS2347.1
      UniProtKB/Swiss-Prot
      E7EV21, O60296, Q8WVH7, Q96NS2, Q9C0K5, Q9C0K6
      UniProtKB/TrEMBL
      Q8IU62
      Related
      ENSP00000328875.3, ENST00000332624.8
      Conserved Domains (2) summary
      pfam04849
      Location:50 → 353
      HAP1_N; HAP1 N-terminal conserved region
      pfam12448
      Location:427 → 567
      Milton; Kinesin associated protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      201377207..201451458 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445578.1 → XP_047301534.1  trafficking kinesin-binding protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E7EV21, O60296, Q8WVH7, Q96NS2, Q9C0K5, Q9C0K6

    2. XM_047445579.1 → XP_047301535.1  trafficking kinesin-binding protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      201857884..201933333 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343511.1 → XP_054199486.1  trafficking kinesin-binding protein 2 isoform X1

    2. XM_054343508.1 → XP_054199483.1  trafficking kinesin-binding protein 2 isoform X1

    3. XM_054343510.1 → XP_054199485.1  trafficking kinesin-binding protein 2 isoform X1

    4. XM_054343509.1 → XP_054199484.1  trafficking kinesin-binding protein 2 isoform X1

    5. XM_054343512.1 → XP_054199487.1  trafficking kinesin-binding protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60296.2 GenPept UniProtKB/Swiss-Prot:O60296

    Gene LinkOut

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