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    DYNLT2B dynein light chain Tctex-type 2B [ Homo sapiens (human) ]

    Gene ID: 255758, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DYNLT2Bprovided by HGNC
    Official Full Name
    dynein light chain Tctex-type 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:28482
    See related
    Ensembl:ENSG00000213123 MIM:617353; AllianceGenome:HGNC:28482
    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
    SRTD17; TCTEX1D2
    Summary
    Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains. This gene encodes a subunit of the human cytoplasmic dynein-2 complex. Mutations in this gene are associated with short-rib thoracic dysplasia 17 with or without polydactyly. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
    Expression
    Broad expression in testis (RPKM 12.7), brain (RPKM 6.1) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DYNLT2B in Genome Data Viewer
    Location:
    3q29
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196291219..196318240, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199010707..199037779, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196018090..196045111, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374304 Neighboring gene Sharpr-MPRA regulatory region 7098 Neighboring gene solute carrier family 51 member A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21082 Neighboring gene phosphate cytidylyltransferase 1A, choline Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:195973646-195974845 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195990064-195990615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195990616-195991166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195999955-196000454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21083 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196005871-196006483 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196013420-196014080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196014081-196014740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21086 Neighboring gene TM4SF19-DYNLT2B readthrough (NMD candidate) Neighboring gene uncharacterized LOC107986031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21087 Neighboring gene TM4SF19 antisense RNA 1 Neighboring gene transmembrane 4 L six family member 19 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:196064783-196065982 Neighboring gene RNA, U6 small nuclear 910, pseudogene

    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
    • 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. Interaction of WDR60 intermediate chain with TCTEX1D2 light chain of the dynein-2 complex is crucial for ciliary protein trafficking. Hamada Y, et al. Mol Biol Cell, 2018 Jul 1. PMID 29742051, Free PMC Article
    2. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Schmidts M, et al. Nat Commun, 2015 Jun 5. PMID 26044572, Free PMC Article
    3. Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis. Gholkar AA, et al. Cell Cycle, 2015. PMID 25830415, Free PMC Article
    4. Subunit composition of the human cytoplasmic dynein-2 complex. Asante D, et al. J Cell Sci, 2014 Nov 1. PMID 25205765, Free PMC Article
    5. A comprehensive resource of interacting protein regions for refining human transcription factor networks. Miyamoto-Sato E, et al. PLoS One, 2010 Feb 24. PMID 20195357, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. WDR60 plays a major role and TCTEX1D2 plays an auxiliary role in the dynein-2 complex to mediate retrograde ciliary protein trafficking.
      Title: Interaction of WDR60 intermediate chain with TCTEX1D2 light chain of the dynein-2 complex is crucial for ciliary protein trafficking.
    2. integral component of the evolutionarily conserved retrograde intraflagellar transport machinery
      Title: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
    3. Tctex1d2 is a novel dynein light chain important for trafficking to the cilium and potentially retrograde intraflagellar transport.
      Title: Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Short-rib thoracic dysplasia 17 with or without polydactyly
    MedGen: C4479416 OMIM: 617405 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Readthrough TM4SF19-DYNLT2B

    Readthrough gene: TM4SF19-DYNLT2B, Included gene: TM4SF19

    Potential readthrough

    Included gene: PCYT1A

    Homology

    Clone Names

    • MGC33212

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein intermediate chain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intraciliary retrograde transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of intraciliary retrograde transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with ciliary base IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytoplasmic dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytoplasmic dynein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dynein axonemal particle IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with interphase microtubule organizing center IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dynein light chain Tctex-type protein 2B
    Names
    Tctex1 domain containing 2
    tctex1 domain-containing protein 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.

    Genomic

    1. NG_054930.1 RefSeqGene

      Range
      5055..32076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001351628.2 → NP_001338557.1  dynein light chain Tctex-type protein 2B isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC069257
      Conserved Domains (1) summary
      pfam03645
      Location:44 → 127
      Tctex-1; Tctex-1 family

    2. NM_152773.5 → NP_689986.2  dynein light chain Tctex-type protein 2B isoform 2

      See identical proteins and their annotated locations for NP_689986.2

      Status: REVIEWED

      Source sequence(s)
      BC021177, BM548106, BM983853
      Consensus CDS
      CCDS33929.1
      UniProtKB/Swiss-Prot
      A6NCN5, Q8WW35
      Related
      ENSP00000324323.5, ENST00000325318.10
      Conserved Domains (1) summary
      pfam03645
      Location:44 → 140
      Tctex-1; Tctex-1 family

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      196291219..196318240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      199010707..199037779 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WW35.2 GenPept UniProtKB/Swiss-Prot:Q8WW35

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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