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Rabl2 RAB, member RAS oncogene family-like 2 [ Mus musculus (house mouse) ]

Gene ID: 68708, updated on 27-Nov-2024

Summary

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Official Symbol
Rabl2provided by MGI
Official Full Name
RAB, member RAS oncogene family-like 2provided by MGI
Primary source
MGI:MGI:1915958
See related
Ensembl:ENSMUSG00000022621 AllianceGenome:MGI:1915958
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Rabl2a; 1110031N17Rik
Summary
Enables GTP binding activity. Involved in photoreceptor cell morphogenesis. Acts upstream of or within cilium assembly; flagellated sperm motility; and single fertilization. Located in sperm midpiece. Part of intraciliary transport particle B. Is expressed in several structures, including eye; genitourinary system; gut; nervous system; and respiratory system. Orthologous to human RABL2A (RAB, member of RAS oncogene family like 2A) and RABL2B (RAB, member of RAS oncogene family like 2B). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis adult (RPKM 34.2), CNS E18 (RPKM 26.3) and 23 other tissues See more
Orthologs
human all
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Genomic context

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See Rabl2 in Genome Data Viewer
Location:
15 E3; 15 44.96 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (89466730..89476126, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (89582527..89591960, complement)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_39468 Neighboring gene predicted gene, 36221 Neighboring gene acrosin prepropeptide Neighboring gene STARR-seq mESC enhancer starr_39470 Neighboring gene NMD3 homolog pseudogene Neighboring gene STARR-seq mESC enhancer starr_39471 Neighboring gene predicted gene, 19378

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. RABL2 Is Required for Hepatic Fatty Acid Homeostasis and Its Dysfunction Leads to Steatosis and a Diabetes-Like State. Yi Lo JC, et al. Endocrinology, 2016 Dec. PMID 27732084
  2. Variants in RABL2A causing male infertility and ciliopathy. Ding X, et al. Hum Mol Genet, 2020 Dec 18. PMID 33075816, Free PMC Article
  3. Genome-wide ENU mutagenesis to reveal immune regulators. Nelms KA, et al. Immunity, 2001 Sep. PMID 11567631
  4. Rabl2 GTP hydrolysis licenses BBSome-mediated export to fine-tune ciliary signaling. Duan S, et al. EMBO J, 2021 Jan 15. PMID 33241915, Free PMC Article
  5. Loss of miR-17~92 results in dysregulation of Cftr in nephron progenitors. Phua YL, et al. Am J Physiol Renal Physiol, 2019 May 1. PMID 30838872, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Variants in RABL2A causing male infertility and ciliopathy.
    Title: Variants in RABL2A causing male infertility and ciliopathy.
  2. Rabl2 GTP hydrolysis licenses BBSome-mediated export to fine-tune ciliary signaling.
    Title: Rabl2 GTP hydrolysis licenses BBSome-mediated export to fine-tune ciliary signaling.
  3. CEP19 is recruited to the ciliary base by the centriolar CEP350/FOP complex and then specifically captures GTP-bound RABL2B, which is activated via its intrinsic nucleotide exchange.
    Title: The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base.
  4. RABL2 dysfunction, even in mice fed a low-fat chow diet, leads to retarded hepatic mitochondria movement associated with and a cascading phenotype of interrelated metabolic defects reminiscent of a type 2 diabetic state: hepatic steatosis, insulin resistance, glucose intolerance, and adult onset obesity.
    Title: RABL2 Is Required for Hepatic Fatty Acid Homeostasis and Its Dysfunction Leads to Steatosis and a Diabetes-Like State.
  5. Our data demonstrate a novel function for the RABL protein family, an essential role for RABL2 in male fertility and a previously uncharacterised mechanism for protein delivery to the flagellum.
    Title: RAB-like 2 has an essential role in male fertility, sperm intra-flagellar transport, and tail assembly.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in photoreceptor cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within single fertilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in centriole ISO
Inferred from Sequence Orthology
more info
  
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of intraciliary transport particle B IDA
Inferred from Direct Assay
more info
 PubMed 
located_in pericentriolar material ISO
Inferred from Sequence Orthology
more info
  
located_in sperm midpiece IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
rab-like protein 2A
Names
RAB, member of RAS oncogene family-like 2
RAB, member of RAS oncogene family-like 2A

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_026817.3 → NP_081093.2  rab-like protein 2A

    See identical proteins and their annotated locations for NP_081093.2

    Status: VALIDATED

    Source sequence(s)
    AC122401, BQ887131, BX635556, BY273527
    Consensus CDS
    CCDS49704.1
    UniProtKB/Swiss-Prot
    E9Q9D5, Q3TDG7, Q8K2P9, Q9D133
    Related
    ENSMUSP00000023294.9, ENSMUST00000023294.15
    Conserved Domains (2) summary
    cd04124
    Location:22 → 182
    RabL2; Rab GTPase-like family 2 (Rab-like2)
    smart00175
    Location:22 → 171
    RAB; Rab subfamily of small GTPases

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    89466730..89476126 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006521326.5 → XP_006521389.1  rab-like protein 2A isoform X2

    Conserved Domains (1) summary
    cd04124
    Location:22 → 181
    RabL2; Rab GTPase-like family 2 (Rab-like2)

  2. XM_030248730.2 → XP_030104590.1  rab-like protein 2A isoform X5

    Conserved Domains (1) summary
    cl38936
    Location:1 → 97
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  3. XM_006521327.4 → XP_006521390.1  rab-like protein 2A isoform X4

    Conserved Domains (1) summary
    cl38936
    Location:1 → 145
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  4. XM_036159564.1 → XP_036015457.1  rab-like protein 2A isoform X6

    Conserved Domains (1) summary
    cl38936
    Location:1 → 96
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  5. XM_036159563.1 → XP_036015456.1  rab-like protein 2A isoform X3

    Conserved Domains (1) summary
    cl38936
    Location:5 → 150
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  6. XM_030248727.2 → XP_030104587.1  rab-like protein 2A isoform X1

    Related
    ENSMUST00000165747.8
    Conserved Domains (1) summary
    cl38936
    Location:141 → 186
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
E9Q9D5.1 GenPept UniProtKB/Swiss-Prot:E9Q9D5

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