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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RABL2A
RAB, member of RAS oncogene family like 2A
Chromosome 2 · 2q14.1
NCBI Gene: 11159Ensembl: ENSG00000144134.19HGNC: HGNC:9799UniProt: A0AUY0
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activityG protein activityendomembrane systemintracellular protein transportazoospermiacytomegalovirus infectionpartial chromosome Y deletionMale infertility with spermatogenesis disorder due to single gene mutation
✦AI Summary

RABL2A encodes a small GTPase that plays essential roles in male fertility and cilia function through its regulation of intracellular protein transport 1. The protein localizes to sperm tails and is highly conserved between mouse and human, where it functions in sperm intra-flagellar transport and tail assembly 1. RABL2A operates through GTP-regulated binding to specific effector proteins involved in cilia development and function 2. Mechanistically, RABL2A interacts with proteins like CCDC34 in its GTP-bound state and can modulate MAPK signaling pathways including p38 and JNK 3. The gene shows preferential expression compared to its paralog RABL2B in human tissues, particularly in brain and placenta 4. Disease relevance includes male infertility, where genetic variants in RABL2A are associated with oligoasthenospermia 1, and ciliopathies, where deleterious alleles cause infertility, growth defects, heterotaxia, polydactyly, and neural tube defects 2. Additionally, RABL2A downregulation is observed in pancreatic cancer and associated with poor survival 5, while the protein has been implicated in sorafenib resistance in hepatocellular carcinoma 3. These findings establish RABL2A as a critical regulator of ciliary function with significant implications for fertility and cancer prognosis.

Sources cited
1
RABL2A localizes to sperm tails, is conserved between species, and genetic variants are associated with male infertility
PMID: 24825419
2
RABL2A is essential for cilia and flagella function, and deleterious alleles cause ciliopathy-associated disorders
PMID: 33075816
3
RABL2A interacts with CCDC34 in GTP-bound state and modulates p38/JNK MAPK signaling in cancer drug resistance
PMID: 34767735
4
RABL2A shows preferential expression compared to paralog RABL2B, particularly in brain and placenta
PMID: 20138207
5
RABL2A is downregulated in pancreatic cancer and associated with poor patient survival
PMID: 32759795
Disease Associationsⓘ20
azoospermiaOpen Targets
0.10Weak
cytomegalovirus infectionOpen Targets
0.09Suggestive
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
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CEP19Protein interaction95%APPL2Protein interaction90%SHANK3Protein interaction82%ALG12Protein interaction76%CCDC34Protein interaction71%KIF27Shared pathway67%
Tissue Expression6 tissues
Ovary
100%
Lung
43%
Liver
43%
Brain
31%
Bone Marrow
24%
Heart
17%
Gene Interaction Network
Click a node to explore
RABL2ACEP19APPL2SHANK3ALG12CCDC34KIF27
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q2TAB6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.41–0.97]
RankingsWhere RABL2A stands among ~20K protein-coding genes
  • #12,858of 20,598
    Most Researched26
  • #9,256of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedRABL2A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic variants in the RABL2A gene in fertile and oligoasthenospermic infertile men.
PMID: 24825419
Fertil Steril · 2014
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
SNHG15 aids SARS-CoV-2 entry via RABL2A.
PMID: 37528621
RNA Biol · 2023
0.80
4
Comprehensive Analysis of Expression, Clinicopathological Association and Potential Prognostic Significance of RABs in Pancreatic Cancer.
PMID: 32759795
Int J Mol Sci · 2020
0.70
5
Variants in RABL2A causing male infertility and ciliopathy.
PMID: 33075816
Hum Mol Genet · 2020
0.60