RAB13

gene
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Summary

RAB13 (RAB13, member RAS oncogene family, HGNC:9762) is a protein-coding gene on chromosome 1q21.3, encoding Ras-related protein Rab-13 (P51153). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.

This gene is a member of the Rab family of small G proteins and plays a role in regulating membrane trafficking between trans-Golgi network (TGN) and recycling endosomes (RE). The encoded protein is involved in the assembly of tight junctions, which are components of the apical junctional complex (AJC) of epithelial cells. The AJC plays a role in forming a barrier between luminal contents and the underlying tissue. Additional functions associated with the protein include endocytic recycling of occludin, regulation of epithelial cell scattering, neuronal regeneration and regulation of neurite outgrowth. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 12.

Source: NCBI Gene 5872 — RefSeq curated summary.

At a glance

  • GWAS associations: 12
  • Clinical variants (ClinVar): 40 total
  • MANE Select transcript: NM_002870

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:9762
Approved symbolRAB13
NameRAB13, member RAS oncogene family
Location1q21.3
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000143545
Ensembl biotypeprotein_coding
OMIM602672
Entrez5872

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 11 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000368575, ENST00000462680, ENST00000484297, ENST00000495720, ENST00000614713, ENST00000881244, ENST00000881245, ENST00000881246, ENST00000881247, ENST00000915980, ENST00000915981, ENST00000915982, ENST00000915983, ENST00000915984

RefSeq mRNA: 2 — MANE Select: NM_002870 NM_001272038, NM_002870

CCDS: CCDS1058, CCDS72921

Canonical transcript exons

ENST00000368575 — 8 exons

ExonStartEnd
ENSE00001447454153981650153982176
ENSE00001447460153986113153986339
ENSE00003461040153983219153983296
ENSE00003479653153984721153984781
ENSE00003580362153982535153982600
ENSE00003625893153982719153982808
ENSE00003677387153982391153982444
ENSE00003686967153983521153983581

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 98.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 73.9475 / max 835.1041, expressed in 1726 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
1476742.33311703
1476623.05401667
147684.76061581
147642.09881178
147651.2798903
147630.4211256

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
stromal cell of endometriumCL:000225598.86gold quality
mucosa of stomachUBERON:000119998.47gold quality
metanephros cortexUBERON:001053398.44gold quality
descending thoracic aortaUBERON:000234598.22gold quality
left coronary arteryUBERON:000162698.13gold quality
omental fat padUBERON:001041498.13gold quality
right adrenal gland cortexUBERON:003582798.13gold quality
right adrenal glandUBERON:000123398.11gold quality
left adrenal gland cortexUBERON:003582598.08gold quality
left adrenal glandUBERON:000123498.04gold quality
fundus of stomachUBERON:000116098.01gold quality
adipose tissueUBERON:000101397.99gold quality
prostate glandUBERON:000236797.96gold quality
lower esophagusUBERON:001347397.96gold quality
lower esophagus muscularis layerUBERON:003583397.96gold quality
esophagogastric junction muscularis propriaUBERON:003584197.94gold quality
adult mammalian kidneyUBERON:000008297.89gold quality
subcutaneous adipose tissueUBERON:000219097.89gold quality
thoracic aortaUBERON:000151597.88gold quality
body of stomachUBERON:000116197.85gold quality
ascending aortaUBERON:000149697.84gold quality
islet of LangerhansUBERON:000000697.82gold quality
muscle layer of sigmoid colonUBERON:003580597.76gold quality
endocervixUBERON:000045897.73gold quality
left lobe of thyroid glandUBERON:000112097.71gold quality
cortex of kidneyUBERON:000122597.71gold quality
right coronary arteryUBERON:000162597.71gold quality
right lobe of thyroid glandUBERON:000111997.70gold quality
pancreasUBERON:000126497.67gold quality
body of pancreasUBERON:000115097.66gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 10.

ExperimentMarker?Max mean expression
E-HCAD-8yes427.21
E-CURD-95yes166.98
E-MTAB-8142yes130.79
E-HCAD-1yes34.91
E-HCAD-5yes32.96
E-CURD-112yes31.97
E-CURD-46yes28.30
E-ANND-3yes12.65
E-MTAB-10553yes6.93
E-MTAB-9801yes4.81
E-MTAB-8205no674.32

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ANKRD11, TP53

miRNA regulators (miRDB)

31 targeting RAB13, 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-19A-3P99.9875.332762
HSA-MIR-19B-3P99.9875.442754
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-1236-3P99.9468.041695
HSA-MIR-4753-3P99.9071.033786
HSA-MIR-629-3P99.8567.991875
HSA-MIR-4446-5P99.7269.192544
HSA-MIR-4755-5P99.7170.342716
HSA-MIR-5006-3P99.7170.262728
HSA-MIR-211399.5871.221521
HSA-MIR-542-3P99.3467.581270
HSA-MIR-223-5P99.2468.821206
HSA-MIR-427999.1966.702437
HSA-MIR-548AS-3P99.1269.122294
HSA-MIR-628-3P99.0468.37814
HSA-MIR-670-3P99.0368.882404
HSA-MIR-194-5P99.0169.651465
HSA-MIR-873-5P98.8466.901348
HSA-MIR-393898.7266.07834
HSA-MIR-4726-3P98.4963.891385
HSA-MIR-6867-3P98.1266.071305
HSA-MIR-446997.9365.811319
HSA-MIR-7111-3P97.8066.751467
HSA-MIR-4723-3P97.6765.911017
HSA-MIR-428797.5567.241247
HSA-MIR-4685-3P97.5567.351255
HSA-MIR-6769B-3P97.4165.531036
HSA-MIR-318397.4065.68978
HSA-MIR-59196.2968.16611
HSA-MIR-797695.7565.671186

Literature-anchored findings (GeneRIF, showing 17)

  • Rab13 specifically mediates the continuous endocytic recycling of occludin to the cell surface in both fibroblastic and epithelial cells (PMID:15528189)
  • Involved in epithelial cell scattering. (PMID:17891173)
  • Rab13 regulates membrane trafficking between the trans-Golgi network (TGN) and recycling endosomes (RE). (PMID:18779367)
  • Rab13,VASP,and ZO-1 were found in apical tight junctions in normal epithelium but were dislocated to the basolateral position in patients with inactive Crohn’s disease. In patients with ulcerative colitis,these tight junction proteins were not dislocated. (PMID:19885626)
  • It is suggested that Rab13 is associated with a putative secretory function in osteoclasts. (PMID:22562557)
  • Disruption of Rab13-mediated trafficking dramatically limits the invasive behavior of epithelial cells in vitro and the growth and migration of highly invasive cancer cells in vivo. (PMID:25713415)
  • Rab8A GTPase Ser(111) phosphorylation is not directly regulated by PINK1 in vitro and demonstrate in cells the time course of Ser(111) phosphorylation of Rab8A, 8B and 13 is markedly delayed compared to phosphorylation of Parkin at Ser(65). (PMID:26471730)
  • Inactive Rab13 appears to associate with vesicles via protein-protein interactions. Only following activation does Rab13 associate with the plasma membrane, presumably with insertion of the C-terminal prenyl group into the membrane. (PMID:26969162)
  • the role of Rab13 as a potent driver of cancer progression. (PMID:27044746)
  • Rab13 activated the downstream AMPK and blocked mTOR signaling by its functional interaction with Grb2 to regulate autophagy in human vascular endothelial cells. (PMID:28087344)
  • GGA2 and RAB13 are important specificity determinants for integrin activity-dependent traffic. (PMID:31076515)
  • The deletion of RAB13 inhibited the proliferation and promoted the apoptosis in AGS and NCI-N87cells, the impairments of viability which was due to reduced amount of RAB13 anchoring the plasma membrane and attenuated cellular response to EGF treatment and the activation of downstream Akt/ERK/mTOR signaling pathways accordingly. (PMID:31474334)
  • RNA localization and co-translational interactions control RAB13 GTPase function and cell migration. (PMID:32946136)
  • Identification of autophagic target RAB13 with small-molecule inhibitor in low-grade glioma via integrated multi-omics approaches coupled with virtual screening of traditional Chinese medicine databases. (PMID:34632655)
  • Construction of Two Independent RAB Family-Based Scoring Systems Based on Machine Learning Algorithms and Definition of RAB13 as a Novel Therapeutic Target for Hepatocellular Carcinoma. (PMID:36901767)
  • Single-cell transcriptomics in ovarian cancer identify a metastasis-associated cell cluster overexpressed RAB13. (PMID:37046345)
  • RAB13 regulates macrophage polarization in sepsis. (PMID:39223234)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriorab13ENSDARG00000034771
mus_musculusRab13ENSMUSG00000027935
rattus_norvegicusRab13ENSRNOG00000016733
caenorhabditis_elegansWBGENE00019317

Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), 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), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955), RAB41 (ENSG00000147127)

Protein

Protein identifiers

Ras-related protein Rab-13P51153 (reviewed: P51153)

Alternative names: Cell growth-inhibiting gene 4 protein

All UniProt accessions (2): P51153, A0A087WWB9

UniProt curated annotations — full annotation on UniProt →

Function. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB13 is involved in endocytic recycling and regulates the transport to the plasma membrane of transmembrane proteins like the tight junction protein OCLN/occludin. Thereby, it regulates the assembly and the activity of tight junctions. Moreover, it may also regulate tight junction assembly by activating the PKA signaling pathway and by reorganizing the actin cytoskeleton through the activation of the downstream effectors PRKACA and MICALL2 respectively. Through its role in tight junction assembly, may play a role in the establishment of Sertoli cell barrier. Plays also a role in angiogenesis through regulation of endothelial cells chemotaxis. Also involved in neurite outgrowth. Has also been proposed to play a role in post-Golgi membrane trafficking from the TGN to the recycling endosome. Finally, it has been involved in insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore may play a role in glucose homeostasis.

Subunit / interactions. Interacts (GTP-bound form) with MICALL2; competes with RAB8A and is involved in tight junctions assembly. Interacts (GTP-bound form) with MICALL1. Interacts (GTP-bound form) with MICAL1, MICAL3, MICALCL, EHBP1 and EHBP1L1; ternary complexes of RAB8A, RAB13 and either MICAL1 or EHBP1L1 are possible. Interacts with PRKACA; downstream effector of RAB13 involved in tight junction assembly. Interacts with GRB2; may recruit RAB13 to the leading edge of migrating endothelial cells where it can activate RHOA. Interacts (isoprenylated form) with PDE6D; dissociates RAB13 from membranes. Interacts with BICDL2/BICDR2. Interacts with LEPROT and LEPROTL1.

Subcellular location. Cell membrane. Cytoplasmic vesicle membrane. Cell junction. Tight junction. Golgi apparatus. trans-Golgi network membrane. Recycling endosome membrane. Cell projection. Lamellipodium.

Tissue specificity. Detected in several types of epithelia, including intestine, kidney, liver and in endothelial cells.

Post-translational modifications. (Microbial infection) Stearoylated By S.flexneri N-epsilon-fatty acyltransferase IcsB, thereby disrupting the host actin cytoskeleton. Ubiquitinated via ‘Lys-11’-linked ubiquitination on Lys-46 and Lys-58; impairing the recruitment of guanosine diphosphate (GDP) dissociation inhibitor 1/GDI1.

Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) including DENND1C, which promote the exchange of bound GDP for free GTP. Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity. Inhibited by GDP dissociation inhibitors (GDIs). Activated in response to insulin.

Domain organisation. Switch 1, switch 2 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.

Induction. Up-regulated during osteoclast differentiation.

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

RefSeq proteins (2): NP_001258967, NP_002861* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001806Small_GTPaseFamily
IPR005225Small_GTP-bdDomain
IPR027417P-loop_NTPaseHomologous_superfamily
IPR050305Small_GTPase_RabFamily

Pfam: PF00071

Enzyme classification (BRENDA):

  • EC 3.6.5.2 — small monomeric GTPase (BRENDA: 49 organisms, 138 substrates, 55 inhibitors, 5 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
GTP0

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (33 total): binding site 16, lipid moiety-binding region 4, mutagenesis site 3, modified residue 2, cross-link 2, short sequence motif 2, chain 1, propeptide 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P51153-F184.620.68

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 (16): 22; 22; 23; 40; 40; 63; 66; 121; 122; 124; 152; 153

Post-translational modifications (8): 178, 200, 194, 195, 199, 200, 46, 58

Mutagenesis-validated functional residues (3):

PositionPhenotype
22dominant negative.
67constitutively active mutant locked in the active gtp-bound form. impairs transports of cargo from the trans-golgi netwo
194–199in 3kr mutant; abolished stearoylation in response to s.flexneri infection.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-1445148Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-8873719RAB geranylgeranylation
R-HSA-8876198RAB GEFs exchange GTP for GDP on RABs

MSigDB gene sets: 295 (showing top): TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_CELL_CHEMOTAXIS, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOCC_SECRETORY_GRANULE, GOBP_APICAL_JUNCTION_ASSEMBLY, GOBP_SERTOLI_CELL_DEVELOPMENT, DITTMER_PTHLH_TARGETS_UP, GOBP_NEUROGENESIS, KEGG_TIGHT_JUNCTION, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY

GO Biological Process (18): exocytosis (GO:0006887), Golgi to plasma membrane transport (GO:0006893), obsolete protein kinase A signaling (GO:0010737), protein transport (GO:0015031), endosomal transport (GO:0016197), cortical actin cytoskeleton organization (GO:0030866), neuron projection development (GO:0031175), endocytic recycling (GO:0032456), cellular response to insulin stimulus (GO:0032869), endothelial cell chemotaxis (GO:0035767), trans-Golgi network to recycling endosome transport (GO:0044795), bicellular tight junction assembly (GO:0070830), protein localization to plasma membrane (GO:0072659), establishment of Sertoli cell barrier (GO:0097368), protein localization to cell leading edge (GO:1902463), intracellular protein localization (GO:0008104), toll-like receptor 4 signaling pathway (GO:0034142), localization within membrane (GO:0051668)

GO Molecular Function (7): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (23): endosome (GO:0005768), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), cytosol (GO:0005829), plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), synaptic vesicle (GO:0008021), lateral plasma membrane (GO:0016328), lamellipodium (GO:0030027), cell junction (GO:0030054), endocytic vesicle (GO:0030139), trans-Golgi network transport vesicle (GO:0030140), cytoplasmic vesicle (GO:0031410), insulin-responsive compartment (GO:0032593), neuron projection (GO:0043005), recycling endosome (GO:0055037), recycling endosome membrane (GO:0055038), extracellular exosome (GO:0070062), cell-cell junction (GO:0005911), membrane (GO:0016020), cytoplasmic vesicle membrane (GO:0030659), cell projection (GO:0042995), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
Membrane Trafficking1
Post-translational protein modification1
Rab regulation of trafficking1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure4
cytoplasm3
vesicle-mediated transport2
vesicle-mediated transport to the plasma membrane2
intracellular protein localization2
endosomal transport2
endomembrane system2
cytoplasmic vesicle2
plasma membrane bounded cell projection2
secretion by cell1
vesicle fusion to plasma membrane1
post-Golgi vesicle-mediated transport1
transport1
establishment of protein localization1
intracellular transport1
actin cytoskeleton organization1
cortical cytoskeleton organization1
neuron development1
plasma membrane bounded cell projection organization1
response to insulin1
cellular response to peptide hormone stimulus1
endothelial cell migration1
cell chemotaxis1
intercellular transport1
apical junction assembly1
tight junction assembly1
protein localization to membrane1
protein localization to cell periphery1
Sertoli cell development1
macromolecule localization1
cell surface toll-like receptor signaling pathway1
cellular localization1
ribonucleoside triphosphate phosphatase activity1
GTPase activity1
molecular function regulator activity1
guanyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
cation binding1
nucleoside phosphate binding1
heterocyclic compound binding1

Protein interactions and networks

STRING

1464 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
RAB13MICALL2Q8IY33935
RAB13TJP1Q07157832
RAB13RSPH14Q9UHP6813
RAB13MICALL1Q8N3F8797
RAB13ARAP2Q8WZ64711
RAB13ARAP1Q96P48687
RAB13PDE6DO43924636
RAB13CORO1BQ9BR76589
RAB13DENND1CQ8IV53589
RAB13DENND2BP78523576
RAB13CGNQ9P2M7564
RAB13BICDL2A1A5D9560
RAB13MICAL1Q8TDZ2543
RAB13MICAL3Q7RTP6531
RAB13RPGRQ92834511

IntAct

106 interactions, top by confidence:

ABTypeScore
GDI1RAB4Apsi-mi:“MI:0914”(association)0.820
RABIFRAB3Apsi-mi:“MI:0914”(association)0.780
Micall2RAB13psi-mi:“MI:0914”(association)0.660
RAB13Micall2psi-mi:“MI:0915”(physical association)0.660
Micall2RAB13psi-mi:“MI:0915”(physical association)0.660
RAB13Micall2psi-mi:“MI:0403”(colocalization)0.660
Micall2RAB13psi-mi:“MI:0403”(colocalization)0.660
BTN3A3BTN3A1psi-mi:“MI:0914”(association)0.560
Leprotl1RAB13psi-mi:“MI:0915”(physical association)0.560
RAB13Leprotl1psi-mi:“MI:0915”(physical association)0.560
Leprotl1RAB13psi-mi:“MI:0403”(colocalization)0.560
RAB8BBLTP3Bpsi-mi:“MI:0914”(association)0.530
RABIFRAB13psi-mi:“MI:0914”(association)0.530
FAM174ABLTP3Bpsi-mi:“MI:0914”(association)0.530
SLC31A1C2orf72psi-mi:“MI:0914”(association)0.530
APLNRSLC33A1psi-mi:“MI:0914”(association)0.530
SPATA46MDM4psi-mi:“MI:0914”(association)0.530
PVRORC4psi-mi:“MI:0914”(association)0.530
TACR3C6orf47psi-mi:“MI:0914”(association)0.530
ANKHFAM234Bpsi-mi:“MI:0914”(association)0.530
PDE6DRAB13psi-mi:“MI:0915”(physical association)0.510
NRASESYT2psi-mi:“MI:2364”(proximity)0.480
GYP1RAB13psi-mi:“MI:0407”(direct interaction)0.440

BioGRID (163): RAB13 (Affinity Capture-MS), RAB13 (Affinity Capture-MS), RAB13 (Affinity Capture-MS), RAB13 (Affinity Capture-MS), RAB13 (Affinity Capture-MS), RAB13 (Affinity Capture-MS), RAB13 (Affinity Capture-MS), RAB13 (Affinity Capture-MS), RAB13 (Affinity Capture-MS), RAB13 (Affinity Capture-MS), RAB13 (Affinity Capture-MS), RAB13 (Affinity Capture-MS), RAB13 (Affinity Capture-MS), RAB13 (Affinity Capture-MS), RAB13 (Two-hybrid)

ESM2 similar proteins: A4FV54, F1PTE3, O24466, O42819, P01123, P11620, P17609, P20790, P20791, P22127, P22128, P24409, P31584, P33723, P34139, P34140, P35280, P35281, P35286, P36410, P51153, P55258, P61006, P61007, P61026, P61027, P61028, P62820, P62821, P62822, P70550, Q05974, Q2HJI8, Q39571, Q4R5P1, Q52NJ2, Q54NU2, Q58DS5, Q5F470, Q5KTJ6

Diamond homologs: A4D1S5, A4FV54, F1PTE3, O04486, O24466, O76173, P01123, P10536, P11620, P16976, P17609, P20790, P20791, P22125, P22128, P28186, P28188, P31584, P33723, P34139, P34140, P35280, P35286, P35294, P36410, P36863, P40392, P51153, P51156, P53994, P55258, P59279, P61006, P61007, P61019, P61028, P61105, P62820, P62821, P62822

SIGNOR signaling

1 interactions.

AEffectBMechanism
ANKRD11“up-regulates quantity by expression”RAB13“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 123 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
NCAM signaling for neurite out-growth517.4×7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance19
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

894 predictions. Top by Δscore:

VariantEffectΔscore
1:153982174:TCCC:Tacceptor_loss1.0000
1:153982175:CC:Cacceptor_gain1.0000
1:153982176:CC:Cacceptor_gain1.0000
1:153982178:T:Aacceptor_loss1.0000
1:153982389:A:ACdonor_gain1.0000
1:153982390:C:CCdonor_gain1.0000
1:153982390:CTGAT:Cdonor_gain1.0000
1:153982499:T:TAdonor_gain1.0000
1:153982597:CCAA:Cacceptor_gain1.0000
1:153982598:CAAC:Cacceptor_gain1.0000
1:153982601:C:CCacceptor_gain1.0000
1:153982714:CTCAC:Cdonor_loss1.0000
1:153982716:CACCT:Cdonor_loss1.0000
1:153982717:A:ACdonor_gain1.0000
1:153982717:A:AGdonor_loss1.0000
1:153982718:C:CCdonor_gain1.0000
1:153982722:ATCGG:Adonor_gain1.0000
1:153982804:GCATT:Gacceptor_gain1.0000
1:153982805:CATT:Cacceptor_gain1.0000
1:153982805:CATTC:Cacceptor_gain1.0000
1:153982806:ATT:Aacceptor_gain1.0000
1:153982807:TT:Tacceptor_gain1.0000
1:153982808:TC:Tacceptor_loss1.0000
1:153982809:C:CAacceptor_loss1.0000
1:153982809:C:CCacceptor_gain1.0000
1:153982810:T:Aacceptor_loss1.0000
1:153982816:C:CTacceptor_gain1.0000
1:153982817:A:Tacceptor_gain1.0000
1:153983217:ACCT:Adonor_gain1.0000
1:153983218:CCTC:Cdonor_gain1.0000

AlphaMissense

1345 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:153982767:T:AK122N1.000
1:153982767:T:GK122N1.000
1:153982768:T:AK122I1.000
1:153982769:T:CK122E1.000
1:153983296:C:GG83R1.000
1:153983549:A:TI73K1.000
1:153983557:G:CF70L1.000
1:153983557:G:TF70L1.000
1:153983558:A:GF70S1.000
1:153983559:A:GF70L1.000
1:153983559:A:TF70I1.000
1:153983570:C:TG66D1.000
1:153983571:C:AG66C1.000
1:153983571:C:GG66R1.000
1:153983573:G:TA65D1.000
1:153983578:G:CD63E1.000
1:153983578:G:TD63E1.000
1:153983579:T:AD63V1.000
1:153983579:T:CD63G1.000
1:153983579:T:GD63A1.000
1:153983580:C:GD63H1.000
1:153984722:A:GW62R1.000
1:153984722:A:TW62R1.000
1:153984771:G:CF45L1.000
1:153984771:G:TF45L1.000
1:153984773:A:GF45L1.000
1:153984781:C:TG42E1.000
1:153986113:C:GG42R1.000
1:153986113:C:TG42R1.000
1:153986118:G:AT40I1.000

dbSNP variants (sampled 300 via entrez): RS1000118647 (1:153989524 C>T), RS1000509046 (1:153988937 T>C), RS1001037081 (1:153987700 G>A,T), RS1001321914 (1:153987334 A>G), RS1002193440 (1:153988067 C>A,T), RS1002259443 (1:153991943 C>G), RS1002567304 (1:153987846 C>A,G), RS1002934205 (1:153989537 C>A,G), RS1004220318 (1:153989566 G>A), RS1004277400 (1:153983025 T>C), RS1004517678 (1:153981768 T>C), RS1004610299 (1:153987946 A>C), RS1004996538 (1:153989901 A>G), RS1005026391 (1:153990217 C>T), RS1005547556 (1:153984869 T>A)

Disease associations

OMIM: gene MIM:602672 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

StudyTraitp-value
GCST010136_18Fruit consumption3.000000e-08
GCST010137_3Cooked vegetable consumption3.000000e-09
GCST010142_60Fish- and plant-related diet4.000000e-09
GCST010142_92Fish- and plant-related diet6.000000e-14
GCST010696_22Cortical thickness (min-P)4.000000e-10
GCST010697_50Cortical surface area (min-P)1.000000e-12
GCST010698_81Subcortical volume (min-P)1.000000e-23
GCST010699_7Brain morphology (min-P)1.000000e-10
GCST010700_11Cortical thickness (MOSTest)4.000000e-13
GCST010701_73Cortical surface area (MOSTest)4.000000e-09
GCST010702_45Subcortical volume (MOSTest)4.000000e-10
GCST010703_276Brain morphology (MOSTest)2.000000e-15

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0008111diet measurement
EFO:0004346neuroimaging measurement
EFO:0004840cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

32 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Adecreases expression, increases expression, increases methylation3
trichostatin Aaffects cotreatment, increases expression3
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideincreases expression, affects cotreatment2
bisphenol AFdecreases expression, increases expression2
Phenylmercuric Acetateaffects cotreatment, increases expression2
Particulate Matterdecreases expression, increases abundance2
GSK-J4increases expression1
FR900359decreases phosphorylation1
dicrotophosdecreases expression1
methylmercuric chlorideincreases expression1
perfluorooctanoic aciddecreases expression1
ochratoxin Aaffects binding1
dibenzo(a,l)pyreneincreases expression1
bisphenol Bincreases expression1
abrineincreases expression1
dorsomorphinaffects cotreatment, increases expression1
bisphenol Sincreases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Decitabinedecreases methylation, increases expression1
Sunitinibdecreases expression1
Arsenic Trioxideincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Azacitidinedecreases methylation1
Hydralazineaffects cotreatment, increases expression1
Ivermectindecreases expression1
Phenobarbitalaffects expression1
Smokedecreases expression1
Tobacco Smoke Pollutionaffects expression1
Tretinoinincreases expression1
Valproic Acidaffects cotreatment, increases expression1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_B3FIAbcam HEK293T RAB13 KOTransformed cell lineFemale
CVCL_TH96HAP1 RAB13 (-) 1Cancer cell lineMale
CVCL_TH97HAP1 RAB13 (-) 2Cancer cell lineMale

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.