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

Summary

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 several human genes including RABL2B (RAB, member of RAS oncogene family like 2B). [provided by Alliance of Genome Resources, Apr 2022]
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

Location:: 15; 15 E3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
109	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_000081.7 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variants in RABL2A causing male infertility and ciliopathy.
Title: Variants in RABL2A causing male infertility and ciliopathy.
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.
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.
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.
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.

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Variation

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Alleles

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

Targeted (2)
Chemically induced (ENU) (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW549303 (e-PCR)
- UniSTS:178727

UniSTS:237378 (e-PCR)
- UniSTS:237378

Homology

Homologs of the Rabl2 gene: The Rabl2 gene is conserved in human, chimpanzee, and rat.
Orthologs from Annotation Pipeline: 205 organisms have orthologs with human gene Rabl2
Orthologs

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	PubMed
enables nucleotide binding	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	PubMed
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	PubMed
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)

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, Q9D133

UniProtKB/TrEMBL

A0A8C6HU14

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: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

89466730..89476126 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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
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
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
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
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