RABL2B

gene
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Summary

RABL2B (RAB, member of RAS oncogene family like 2B, HGNC:9800) is a protein-coding gene on chromosome 22q13.33, encoding Rab-like protein 2B (Q9UNT1). Small GTPase required for ciliation.

The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene.

Source: NCBI Gene 11158 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 52 total — 1 pathogenic
  • MANE Select transcript: NM_001130919

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:9800
Approved symbolRABL2B
NameRAB, member of RAS oncogene family like 2B
Location22q13.33
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000079974
Ensembl biotypeprotein_coding
OMIM605413
Entrez11158

Gene structure

Transcript identifiers

Ensembl transcripts: 100 — 91 protein_coding, 5 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000354869, ENST00000395590, ENST00000395591, ENST00000395593, ENST00000395595, ENST00000395598, ENST00000413505, ENST00000425098, ENST00000435118, ENST00000436958, ENST00000464678, ENST00000464740, ENST00000465063, ENST00000468451, ENST00000482308, ENST00000685352, ENST00000690024, ENST00000691320, ENST00000887284, ENST00000887285, ENST00000887286, ENST00000887287, ENST00000887288, ENST00000887289, ENST00000887290, ENST00000887291, ENST00000887292, ENST00000887293, ENST00000887294, ENST00000887295, ENST00000887296, ENST00000887297, ENST00000887298, ENST00000887299, ENST00000887300, ENST00000887301, ENST00000887302, ENST00000887303, ENST00000887304, ENST00000887305, ENST00000887306, ENST00000887307, ENST00000887308, ENST00000887309, ENST00000887310, ENST00000887311, ENST00000887312, ENST00000887313, ENST00000887314, ENST00000887315, ENST00000887316, ENST00000887317, ENST00000887318, ENST00000887319, ENST00000887320, ENST00000887321, ENST00000913954, ENST00000913955, ENST00000913956, ENST00000913957, ENST00000913958, ENST00000913959, ENST00000913960, ENST00000913961, ENST00000913962, ENST00000913963, ENST00000913964, ENST00000913965, ENST00000913966, ENST00000913967, ENST00000913968, ENST00000913969, ENST00000913970, ENST00000913971, ENST00000913972, ENST00000913973, ENST00000913974, ENST00000913975, ENST00000913976, ENST00000913977, ENST00000913978, ENST00000913979, ENST00000913980, ENST00000961112, ENST00000961113, ENST00000961114, ENST00000961115, ENST00000961116, ENST00000961117, ENST00000961118, ENST00000961119, ENST00000961120, ENST00000961121, ENST00000961122, ENST00000961123, ENST00000961124, ENST00000961125, ENST00000961126, ENST00000961127, ENST00000961128

RefSeq mRNA: 24 — MANE Select: NM_001130919 NM_001003789, NM_001130919, NM_001130920, NM_001130921, NM_001130922, NM_001130923, NM_001350003, NM_001350004, NM_001350005, NM_001350006, NM_001350007, NM_001350008, NM_001350009, NM_001350010, NM_001350011, NM_001350012, NM_001350013, NM_001350014, NM_001350015, NM_001350016, NM_001350017, NM_001394054, NM_001394055, NM_007081

CCDS: CCDS14102, CCDS33683, CCDS46738

Canonical transcript exons

ENST00000691320 — 9 exons

ExonStartEnd
ENSE000018909285078350150783636
ENSE000024748345076990550770016
ENSE000034970285078218850782347
ENSE000035238275077667050776749
ENSE000035709155076904150769124
ENSE000036257515077795250777981
ENSE000036325785076945550769552
ENSE000036355365077577250775851
ENSE000036663305076750650768874

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.3905 / max 60.5031, expressed in 1721 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1948095.39801699
1948100.9925634

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
right uterine tubeUBERON:000130299.44gold quality
fallopian tubeUBERON:000388996.01gold quality
right lobe of thyroid glandUBERON:000111995.94gold quality
right hemisphere of cerebellumUBERON:001489095.64gold quality
cerebellar hemisphereUBERON:000224595.38gold quality
cerebellar cortexUBERON:000212995.35gold quality
cerebellumUBERON:000203795.30gold quality
pituitary glandUBERON:000000795.25gold quality
olfactory segment of nasal mucosaUBERON:000538695.21gold quality
thyroid glandUBERON:000204695.17gold quality
left lobe of thyroid glandUBERON:000112095.11gold quality
endocervixUBERON:000045894.46gold quality
primary visual cortexUBERON:000243694.33gold quality
adenohypophysisUBERON:000219694.25gold quality
left uterine tubeUBERON:000130394.16gold quality
right ovaryUBERON:000211894.04gold quality
granulocyteCL:000009493.96gold quality
left ovaryUBERON:000211993.86gold quality
right frontal lobeUBERON:000281093.72gold quality
nucleus accumbensUBERON:000188293.67gold quality
metanephros cortexUBERON:001053393.66gold quality
body of uterusUBERON:000985393.62gold quality
cortical plateUBERON:000534393.56gold quality
superior frontal gyrusUBERON:000266193.46gold quality
ovaryUBERON:000099293.39gold quality
caudate nucleusUBERON:000187393.24gold quality
left testisUBERON:000453392.94gold quality
hypothalamusUBERON:000189892.76gold quality
Brodmann (1909) area 9UBERON:001354092.73gold quality
brainUBERON:000095592.72gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-CURD-114yes61.91
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

64 targeting RABL2B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-450099.9972.722367
HSA-MIR-448799.9664.581252
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-652-5P99.9167.49505
HSA-MIR-3529-3P99.9073.553045
HSA-MIR-449699.8868.892236
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-6756-5P99.8267.972466
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-1273H-5P99.7766.322471
HSA-MIR-92A-2-5P99.7567.012164
HSA-MIR-149-3P99.7268.223963
HSA-MIR-30B-3P99.7065.762325
HSA-MIR-3689A-3P99.7065.732306
HSA-MIR-3689B-3P99.7065.712311
HSA-MIR-3689C99.7065.712311
HSA-MIR-6779-5P99.7065.762363
HSA-MIR-6883-5P99.6968.053785
HSA-MIR-6766-5P99.6867.702325
HSA-MIR-449999.6267.291470
HSA-MIR-397599.6265.97697
HSA-MIR-7152-5P99.6069.332094
HSA-MIR-426199.5970.303415
HSA-MIR-4728-3P99.4768.94981
HSA-MIR-147B-5P99.4570.622432

Literature-anchored findings (GeneRIF, showing 4)

  • In human samples no deviations of the euploid genomic state could be detected indicating that 22q13 microdeletions involving RABL2B are rare. (PMID:20138207)
  • According to the present study, 50776482 delC allele in the RABL2B gene could be a risk factor in Iranian infertile men with oligoasthenoteratozoospermia defect, but more genetic studies are required to understand the accurate role of this variant in pathogenesis of human male infertility. (PMID:28138870)
  • 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. (PMID:28625565)
  • RABL2 controls localization of GPR161 independently of TULP3, which promotes entry of ciliary GPCRs. (PMID:30578315)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriorabl2ENSDARG00000063321
mus_musculusRabl2ENSMUSG00000022621
rattus_norvegicusRabl2ENSRNOG00000013947

Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB34 (ENSG00000109113), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB33A (ENSG00000134594), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955), RAB41 (ENSG00000147127)

Protein

Protein identifiers

Rab-like protein 2BQ9UNT1 (reviewed: Q9UNT1)

All UniProt accessions (9): Q9UNT1, A0A0S2SW46, A0A8I5KRY9, A0A8I5KX29, A8MXF6, C9JFZ0, F2Z2T3, F2Z3A9, F2Z3J7

UniProt curated annotations — full annotation on UniProt →

Function. Small GTPase required for ciliation. Activated in a guanine nucleotide exchange factor (GEF)-independent manner via its intrinsic GDP for GTP nucleotide exchange ability. Involved in ciliary assembly by binding the intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia.

Subunit / interactions. Interacts (in its GTP-bound form) with CEP19 (via residues 121-150); this interaction is required for its localization to the mother centriole and cilium basal body. Interacts (in its GTP-bound form) with the intraflagellar transport (IFT) complex B (via the IFT74-IFT81 heterodimer). Binding to CEP19 and the IFT74-IFT81 heterodimer is mutually exclusive.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cilium basal body.

Tissue specificity. Expressed in the testis.

Domain organisation. Switch I, switch II and the interswitch regions are characteristic of Rab GTPases and mediate the interactions with Rab downstream effectors. The switch regions undergo conformational changes upon nucleotide binding which drive interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.

Similarity. Belongs to the small GTPase superfamily. Rab family.

Isoforms (3)

UniProt IDNamesCanonical?
Q9UNT1-11yes
Q9UNT1-22
Q9UNT1-33

RefSeq proteins (24): NP_001003789, NP_001124391, NP_001124392, NP_001124393, NP_001124394, NP_001124395, NP_001336932, NP_001336933, NP_001336934, NP_001336935, NP_001336936, NP_001336937, NP_001336938, NP_001336939, NP_001336940, NP_001336941, NP_001336942, NP_001336943, NP_001336944, NP_001336945, NP_001336946, NP_001380983, NP_001380984, NP_009012 (=MANE)

Domains & families (InterPro)

IDNameType
IPR001806Small_GTPaseFamily
IPR005225Small_GTP-bdDomain
IPR027417P-loop_NTPaseHomologous_superfamily
IPR041835RabL2Family

Pfam: PF00071

Catalyzed reactions (Rhea), 1 shown:

  • GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (23 total): binding site 14, region of interest 3, mutagenesis site 3, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9UNT1-F179.880.50

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (14): 53; 53; 76; 79; 133; 134; 136; 160; 30; 31; 33; 34

Mutagenesis-validated functional residues (3):

PositionPhenotype
35gdp-locked form; mild defects in ciliary assembly. loss of interaction with the intraflagellar transport (ift) complex b
73mild defects in ciliary assembly. loss of interaction with the intraflagellar transport (ift) complex b via the ift74-if
80gtp-locked form; interacts with the intraflagellar transport (ift) complex b via the ift74-ift81 heterodimer. localizes

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 66 (showing top): GCM_MAP4K4, GCM_GSPT1, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, GCM_SUFU, GCM_NF2, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_CENTRIOLE, GCM_PTK2, chr22q13, GOCC_PERICENTRIOLAR_MATERIAL, GOCC_CILIUM

GO Biological Process (5): intracellular protein transport (GO:0006886), intraciliary transport (GO:0042073), cilium assembly (GO:0060271), microtubule-based movement (GO:0007018), cell projection organization (GO:0030030)

GO Molecular Function (5): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (8): pericentriolar material (GO:0000242), cytoplasm (GO:0005737), centriole (GO:0005814), endomembrane system (GO:0012505), ciliary basal body (GO:0036064), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure4
cilium2
cilium organization2
microtubule organizing center2
intracellular membraneless organelle2
intracellular protein localization1
protein transport1
intracellular transport1
transport along microtubule1
axoneme assembly1
intraciliary transport involved in cilium assembly1
protein localization to cilium1
organelle assembly1
trans-Golgi to periciliary membrane compartment transport1
plasma membrane bounded cell projection assembly1
ciliary transition zone assembly1
microtubule-based process1
cellular component organization1
ribonucleoside triphosphate phosphatase activity1
GTPase activity1
molecular function regulator activity1
guanyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
nucleoside phosphate binding1
heterocyclic compound binding1
binding1
centrosome1
intracellular anatomical structure1
vacuole1
plasma membrane1
intraciliary transport particle1
membrane-bounded organelle1
plasma membrane bounded cell projection1

Protein interactions and networks

STRING

2079 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
RABL2BSHANK3Q9BYB0932
RABL2BAPPL2Q8NEU8895
RABL2BALG12Q9BV10777
RABL2BCEP19Q96LK0659
RABL2BPIM3Q86V86572
RABL2BIFT22Q9H7X7554
RABL2BSULT4A1Q9BR01512
RABL2BSHANK2Q9UPX8471
RABL2BMAPK8IP2Q13387449
RABL2BARL13BQ3SXY8443
RABL2BIFT38Q96AJ1441
RABL2BIFT56A0AVF1438
RABL2BIFT74Q96LB3433
RABL2BIFT27Q9BW83430
RABL2BCPLANE2Q9BU20427

IntAct

7 interactions, top by confidence:

ABTypeScore
RABL2BCEP19psi-mi:“MI:0915”(physical association)0.550
RABL2BTUFMpsi-mi:“MI:0915”(physical association)0.400
Mpsi-mi:“MI:0914”(association)0.350
RABL2BCEP43psi-mi:“MI:0914”(association)0.350
HPNDDX39Apsi-mi:“MI:0914”(association)0.350

BioGRID (23): RASEF (Affinity Capture-MS), IDI2 (Affinity Capture-MS), CEP19 (Two-hybrid), RASEF (Affinity Capture-MS), IDI2 (Affinity Capture-MS), RABL2B (Affinity Capture-MS), RABL2B (Reconstituted Complex), RABL2B (Co-localization), RABL2B (Co-localization), IFT88 (Co-localization), CEP19 (Two-hybrid), RABL2B (Proximity Label-MS), FGFR1OP (Affinity Capture-MS), RASEF (Affinity Capture-MS), IDI2 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I5ZNK2, A1L1L6, A2YNT8, A9TF79, D4AE59, E9Q9D5, O54833, O95057, P19784, P20427, P24786, P43291, P43292, P49137, P49138, P87027, Q0D4J7, Q0GGW5, Q16288, Q16644, Q2HJF8, Q32LJ6, Q4R4K5, Q5E9J4, Q5FVJ7, Q5IFJ9, Q5IS37, Q5N942, Q5R573, Q5ZKR4, Q66H84, Q6NVC5, Q6ZI44, Q75H77, Q75LR7, Q75V57, Q7XQP4, Q8BG51, Q8IXI2, Q91604

Diamond homologs: E9Q9D5, G4MYS1, I1RMF2, O01803, O04486, O35509, O42819, O49513, O76173, O94655, P07560, P10536, P11620, P22125, P22129, P24408, P28185, P28187, P28188, P31584, P32939, P33519, P33723, P34139, P34140, P35293, P36412, P38545, P38555, P40392, P40393, P41924, P46638, P51151, P62490, P62491, P62492, P62493, P62494, P62820

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

52 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance40
Likely benign1
Benign1

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
979616GRCh37/hg19 22q13.33(chr22:51122307-51224091)x1Pathogenic

SpliceAI

2264 predictions. Top by Δscore:

VariantEffectΔscore
22:50768779:G:Cdonor_gain1.0000
22:50768798:T:TAdonor_gain1.0000
22:50769036:CCTA:Cdonor_loss1.0000
22:50769039:A:Cdonor_loss1.0000
22:50769125:C:CCacceptor_gain1.0000
22:50782186:A:ACdonor_gain1.0000
22:50782187:C:CCdonor_gain1.0000
22:50768873:TT:Tacceptor_gain0.9900
22:50768875:C:Aacceptor_loss0.9900
22:50768875:C:CCacceptor_gain0.9900
22:50769121:AGAG:Aacceptor_gain0.9900
22:50769122:GAG:Gacceptor_gain0.9900
22:50769123:AGCT:Aacceptor_loss0.9900
22:50769124:GCTG:Gacceptor_loss0.9900
22:50769550:CTG:Cacceptor_gain0.9900
22:50769920:C:CTdonor_gain0.9900
22:50769921:C:CTdonor_gain0.9900
22:50769923:C:CTdonor_gain0.9900
22:50769953:C:CAdonor_gain0.9900
22:50770013:ACACC:Aacceptor_loss0.9900
22:50770014:CACCT:Cacceptor_loss0.9900
22:50770015:ACCT:Aacceptor_loss0.9900
22:50770017:C:Aacceptor_loss0.9900
22:50770018:T:Aacceptor_loss0.9900
22:50775735:G:Adonor_gain0.9900
22:50776757:CAGGT:Cacceptor_gain0.9900
22:50776761:T:TCacceptor_gain0.9900
22:50777835:CACT:Cdonor_loss0.9900
22:50777836:ACTT:Adonor_loss0.9900
22:50777837:CTTAC:Cdonor_loss0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1054698 (22:50769673 G>A,T), RS111231340 (22:50779722 A>G), RS111254433 (22:50767582 T>A), RS111356418 (22:50775105 A>C), RS111547533 (22:50781129 C>A,T), RS111565638 (22:50768634 A>T), RS112000803 (22:50778350 C>T), RS112046010 (22:50771045 ATTTTTTT>A,AT,ATTT,ATTTT,ATTTTT,ATTTTTT,ATTTTTTTT,ATTTTTTTTT,ATTTTTTTTTTT,ATTTTTTTTTTTTTTT), RS112423828 (22:50771298 T>A), RS112565862 (22:50771861 C>A,T), RS112650036 (22:50768128 C>T), RS112718844 (22:50771452 G>T), RS112796042 (22:50779913 G>A), RS112852441 (22:50780547 C>T), RS112869710 (22:50768549 C>A,T)

Disease associations

OMIM: gene MIM:605413 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, affects cotreatment, increases abundance2
Smokedecreases expression, increases abundance, increases expression2
Cadmium Chloridedecreases expression, increases abundance2
dicrotophosincreases expression1
beta-lapachonedecreases expression, increases expression1
cobaltous chloridedecreases expression1
manganese chlorideaffects cotreatment, decreases expression, increases abundance1
di-n-butylphosphoric acidaffects expression1
CGP 52608affects binding, increases reaction1
Resveratrolaffects cotreatment, decreases expression1
Zoledronic Acidincreases expression1
Air Pollutantsincreases abundance, increases expression1
Arsenicaffects cotreatment, decreases expression, increases abundance1
Cadmiumdecreases expression, increases abundance1
Gallic Acidincreases expression1
Manganeseaffects cotreatment, decreases expression, increases abundance1
Plant Extractsaffects cotreatment, decreases expression1
Tobacco Smoke Pollutiondecreases expression1
Urethanedecreases expression1
Aflatoxin B1increases methylation1
Acrylamidedecreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.