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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RABL2B
RAB, member of RAS oncogene family like 2B
Chromosome 22 · 22q13.33
NCBI Gene: 11158Ensembl: ENSG00000079974.20HGNC: HGNC:9800UniProt: A0A0S2SW46
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
pericentriolar materialcytoplasmcentrosomeciliary basal bodyazoospermiapartial chromosome Y deletionMale infertility with spermatogenesis disorder due to single gene mutationspermatogenic failure 63
✦AI Summary

RABL2B is a small GTPase essential for ciliary assembly and function. It operates through an intrinsic GDP-to-GTP nucleotide exchange mechanism independent of traditional GTPase exchange factors 1. The primary mechanism involves RABL2B binding to the intraflagellar transport (IFT) complex B at the ciliary base, triggering entry of pre-docked IFT-B complexes into the cilium 12. RABL2B also positively regulates localization of ciliary G-protein-coupled receptors (GPCRs) such as GPR161 and HTR6 by physically associating with these receptors at the ciliary base 3. The protein is recruited to the mother centriole through interactions with distal appendage proteins CEP164 and CEP83, and functions with CEP19 to coordinate IFT entry 13. Clinically, RABL2B variants associate with male infertility; the intronic rs144944885 delC variant shows elevated frequency in oligoasthenoteratozoospermia patients and predicted to alter pre-mRNA splicing 4. In Phelan-McDermid syndrome, RABL2B deletion as part of Class I deletions correlates with cognitive and psychiatric phenotypes distinct from Class II deletions 5. RABL2B demonstrates preferential expression in human brain and placenta compared to its paralog RABL2A, suggesting non-redundant functional importance 6. Reduced RABL2B expression associates with poorer pancreatic cancer survival 7, and it appears as a candidate biomarker in thyroid cancer 8 and Alzheimer's disease pathogenesis 9.

Sources cited
1
RABL2B functions via intrinsic nucleotide exchange mechanism and captures IFT-B complexes to initiate ciliary entry
PMID: 28625565
2
RABL2B rs144944885 delC variant associates with oligoasthenoteratozoospermia in infertile men
PMID: 28138870
3
RABL2B positively controls ciliary GPCR localization and physically associates with GPR161 and HTR6
PMID: 30578315
4
RABL2B deletion in Phelan-McDermid syndrome Class I deletions correlates with specific cognitive and psychiatric phenotypes
PMID: 34559195
5
RABL2B shows preferential tissue expression in brain and placenta compared to paralog RABL2A
PMID: 20138207
6
RABL2B downregulation associates with poorer pancreatic cancer patient survival
PMID: 32759795
7
RABL2B identified as candidate gene involved in thyroid cancer pathogenesis
PMID: 41249621
8
RABL2B proposed as novel biomarker gene related to Alzheimer's disease
PMID: 32699331
Disease Associationsⓘ20
azoospermiaOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.09Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.09Suggestive
spermatogenic failure 63Open Targets
0.08Suggestive
spermatogenic failure 79Open Targets
0.08Suggestive
spermatogenic failure 10Open Targets
0.08Suggestive
spermatogenic failure 11Open Targets
0.08Suggestive
spermatogenic failure 58Open Targets
0.08Suggestive
spermatogenic failure 47Open Targets
0.08Suggestive
spermatogenic failure 40Open Targets
0.08Suggestive
spermatogenic failure 7Open Targets
0.08Suggestive
spermatogenic failure 76Open Targets
0.08Suggestive
spermatogenic failure 80Open Targets
0.08Suggestive
spermatogenic failure 56Open Targets
0.08Suggestive
spermatogenic failure 92Open Targets
0.08Suggestive
spermatogenic failure 94Open Targets
0.08Suggestive
spermatogenic failure 84Open Targets
0.08Suggestive
spermatogenic failure 93Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.08Suggestive
spermatogenic failure 65Open Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CEP19Protein interaction95%APPL2Protein interaction90%SHANK3Protein interaction82%ALG12Protein interaction78%CEP350Protein interaction77%CEP43Protein interaction77%
Tissue Expression6 tissues
Ovary
100%
Lung
51%
Liver
50%
Brain
36%
Bone Marrow
30%
Heart
16%
Gene Interaction Network
Click a node to explore
RABL2BCEP19APPL2SHANK3ALG12CEP350CEP43
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UNT1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.47–1.09]
RankingsWhere RABL2B stands among ~20K protein-coding genes
  • #13,500of 20,598
    Most Researched23
  • #11,158of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedRABL2B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The impact of RABL2B gene (rs144944885) on human male infertility in patients with oligoasthenoteratozoospermia and immotile short tail sperm defects.
PMID: 28138870
J Assist Reprod Genet · 2017
1.00
2
Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing.
PMID: 20138207
Gene · 2010
0.90
3
The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base.
PMID: 28625565
Dev Cell · 2017
0.80
4
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
PMID: 34559195
Hum Mol Genet · 2022
0.70
5
RABL2 positively controls localization of GPCRs in mammalian primary cilia.
PMID: 30578315
J Cell Sci · 2019
0.60