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DYNLRB2 dynein light chain roadblock-type 2 [ Homo sapiens (human) ]

Gene ID: 83657, updated on 5-Aug-2018

Summary

Official Symbol
DYNLRB2provided by HGNC
Official Full Name
dynein light chain roadblock-type 2provided by HGNC
Primary source
HGNC:HGNC:15467
See related
Ensembl:ENSG00000168589 MIM:607168; Vega:OTTHUMG00000137622
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
DNCL2B; DNLC2B; ROBLD2
Expression
Restricted expression toward testis (RPKM 21.0) See more
Orthologs

Genomic context

See DYNLRB2 in Genome Data Viewer
Location:
16q23.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (80540259..80550811)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (80574854..80584713)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724084 Neighboring gene VISTA enhancer hs4 Neighboring gene HNF1 motif-containing MPRA enhancer 101 Neighboring gene uncharacterized LOC105371360 Neighboring gene long intergenic non-protein coding RNA 1227

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Genome-wide association study of antiphospholipid antibodies.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Intraflagellar transport, organism-specific biosystem (from REACTOME)
    Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC62033

Gene Ontology Provided by GOA

Function Evidence Code Pubs
dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule motor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
intraciliary transport involved in cilium assembly TAS
Traceable Author Statement
more info
 
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule-based movement NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
ciliary tip TAS
Traceable Author Statement
more info
 
cilium TAS
Traceable Author Statement
more info
 
cytoplasmic dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic dynein complex ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic dynein complex NAS
Non-traceable Author Statement
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
outer dynein arm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
dynein light chain roadblock-type 2
Names
bithoraxoid-like protein
dynein light chain 2B, cytoplasmic
dynein, cytoplasmic, light polypeptide 2B
roadblock domain-containing protein 2
testicular tissue protein Li 53

NCBI Reference Sequences (RefSeq)

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_001305017.1NP_001291946.1  dynein light chain roadblock-type 2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 5'-terminal exon and uses an alternate start codon compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    CD676360, HY123054, HY201608
    Consensus CDS
    CCDS76904.1
    UniProtKB/TrEMBL
    H3BQI1
    Related
    ENSP00000455791.1, OTTHUMP00000255573, ENST00000562982.5, OTTHUMT00000434717
    Conserved Domains (1) summary
    pfam03259
    Location:34122
    Robl_LC7; Roadblock/LC7 domain
  2. NM_130897.2NP_570967.1  dynein light chain roadblock-type 2 isoform 1

    See identical proteins and their annotated locations for NP_570967.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the shorter isoform (1).
    Source sequence(s)
    AC108097, DB458006, HY018370, HY201608
    Consensus CDS
    CCDS10929.1
    UniProtKB/Swiss-Prot
    Q8TF09
    UniProtKB/TrEMBL
    A0A140VJH9
    Related
    ENSP00000302936.6, OTTHUMP00000174966, ENST00000305904.10, OTTHUMT00000269043
    Conserved Domains (1) summary
    pfam03259
    Location:593
    Robl_LC7; Roadblock/LC7 domain

RNA

  1. NR_130942.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC108097, BC035232, HY018370, HY201608
    Related
    ENST00000561880.1, OTTHUMT00000434720
  2. NR_130943.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC108097, BC054892, HY018370, HY201608

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    80540259..80550811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523370.2XP_011521672.1  dynein light chain roadblock-type 2 isoform X2

    See identical proteins and their annotated locations for XP_011521672.1

    Conserved Domains (1) summary
    pfam03259
    Location:173
    Robl_LC7; Roadblock/LC7 domain
  2. XM_006721295.3XP_006721358.1  dynein light chain roadblock-type 2 isoform X1

    See identical proteins and their annotated locations for XP_006721358.1

    UniProtKB/Swiss-Prot
    Q8TF09
    UniProtKB/TrEMBL
    A0A140VJH9
    Conserved Domains (1) summary
    pfam03259
    Location:593
    Robl_LC7; Roadblock/LC7 domain
  3. XM_006721296.3XP_006721359.1  dynein light chain roadblock-type 2 isoform X2

    See identical proteins and their annotated locations for XP_006721359.1

    Conserved Domains (1) summary
    pfam03259
    Location:173
    Robl_LC7; Roadblock/LC7 domain
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