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

Gene ID: 255758, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196291219..196318240, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199010707..199037779, complement)
105.20220307 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
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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

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_2023_10

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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