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

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; AllianceGenome:HGNC:15467
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
Summary: Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in ciliary tip. Predicted to be part of cytoplasmic dynein complex. Predicted to be active in centrosome and cytoplasm. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis (RPKM 21.0) See more
Orthologs: mouse all
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Genomic context

Location:: 16q23.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (80540734..80550811)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (86602399..86612488)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (80574631..80584708)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
Findings indicate that km23-2 (DYNLRB2) is required for Smad3-dependent TGFbeta signaling. Km23-2 has functions in TGFbeta signaling that are distinct from those for km23-1 (DYNLRB1).
Title: Requirement of a dynein light chain in TGFbeta/Smad3 signaling.
Among the total 68 liver cancer samples tested, DNLC2B was down-regulated in 28 cases.
Title: Identification of two novel human dynein light chain genes, DNLC2A and DNLC2B, and their expression changes in hepatocellular carcinoma tissues from 68 Chinese patients.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of antiphospholipid antibodies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dynein intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule motor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in microtubule-based movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule-based movement	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary tip	TAS Traceable Author Statement more info
located_in cilium	TAS Traceable Author Statement more info
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	ISS Inferred from Sequence or Structural Similarity more info
part_of cytoplasmic dynein complex	NAS Non-traceable Author Statement more info	PubMed
located_in microtubule	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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)

NM_001305017.2 → NP_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)

AC108097, CD676360, HY123054, HY201608

Consensus CDS

CCDS76904.1

UniProtKB/TrEMBL

H3BQI1

Related

ENSP00000455791.1, ENST00000562982.5

Conserved Domains (1) summary

pfam03259
Location:34 → 122

Robl_LC7; Roadblock/LC7 domain
NM_130897.3 → NP_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, HY201608

Consensus CDS

CCDS10929.1

UniProtKB/Swiss-Prot

Q8TF09

UniProtKB/TrEMBL

A0A140VJH9

Related

ENSP00000302936.6, ENST00000305904.11

Conserved Domains (1) summary

pfam03259
Location:3 → 93

Robl_LC7; Roadblock/LC7 domain

RNA

NR_130942.2 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
NR_130943.2 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