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FLASH GENE
Symbol RABL2A contributors: mct - updated : 25-06-2018
HGNC name RAB, member of RAS oncogene family-like 2A
HGNC id 9799
Location 2q14.1      Physical location : 114.384.816 - 114.400.974
Synonym name RAB-like protein 2A
Synonym symbol(s) RB2A, FLJ78724, MGC117180
DNA
TYPE functioning gene
STRUCTURE 16.18 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
regionally located located in an ancestral telomeric region formed from the fusion of two ancestral ape chromosomes
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 splicing 1154 26.1 228 heart and skeletal muscle only 2014 24825419
without intron sequence in the 3' untranslated region
9 splicing 2198 26.1 228 - 2014 24825419
containing on unspliced intron in the 3' untranslated region
10 - 2466 - 239 - 2014 24825419
10 - 2436 - 229 - 2014 24825419
10 - 2456 - 239 - 2014 24825419
10 - 2373 - 239 - 2014 24825419
10 - 2343 - 229 - 2014 24825419
8 - 2151 - 165 - 2014 24825419
9 - 2218 - 239 - 2014 24825419
9 - 2188 - 229 - 2014 24825419
9 - 2215 - 238 - 2014 24825419
9 - 2185 26.1 228 - 2014 24825419
7 - 1992 - 165 - 2014 24825419
7 - 2013 - 165 - 2014 24825419
9 - 2237 - 154 - 2014 24825419
9 - 2214 - 239 - 2014 24825419
10 - 1103 - 224 - 2014 24825419
7 - 2022 - 175 - 2014 24825419
7 - 2026 - 175 - 2014 24825419
7 - 1989 - 164 - 2014 24825419
9 - 2180 - 144 - 2014 24825419
8 - 2104 - 137 - 2014 24825419
8 - 2101 - 136 - 2014 24825419
10 - 2201 - 229 - 2014 24825419
10 - 1157 - 229 - 2014 24825419
10 - 2211 - 238 - 2014 24825419
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrinepancreas   highly
Nervousbrain   highly
Reproductivemale systemtestis  highly Homo sapiens
Respiratorylung    
Urinarykidney   highly
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductivegerm cell Homo sapiens
cell lineage
cell lines
fluid/secretion in the sperm
at STAGE
physiological period fetal, pregnancy
Text fetal tissues, placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to C.elegans csp-1
intraspecies paralog to RABL2B
Homologene
FAMILY
  • RAS GTPase superfamily
  • Rab family
  • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • may be a subtelomeric gene (Wong 1999)
  • essential role for RABL2A, RABL2B in male fertility and a previously uncharacterised mechanism for protein delivery to the flagellum
  • RABL2A, RABL2B, are an essential requirement for sperm tail assembly and function
  • importance of RABL2A, RABL2B and mitochondrial dynamics in hepatic fatty acid oxidation and in the achievement of metabolic balance
  • RABL2A, RABL2B plays an important role in trafficking of ciliary G-protein-coupled receptors (GPCRs) at the ciliary base in mammalian cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    GTP
    protein
  • within developing haploid germ cells RABL2 interacts with intra-flagella transport (IFT) proteins and delivers a specific set of effector (cargo) proteins, including key members of the glycolytic pathway, to the sperm tail
  • RABL2A, RABL2B recruitment to the mother centriole is dependent on the distal appendage proteins CEP164 and CEP83
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to oligoasthenospermic infertility
    Variant & Polymorphism SNP
  • 114391996 delC allele in the RABL2A gene may act as a risk factor for oligoasthenospermic infertility
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS