MICALL2

gene
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Also known as MGC46023FLJ23471MICAL-L2JRAB

Summary

MICALL2 (MICAL like 2, HGNC:29672) is a protein-coding gene on chromosome 7p22.3, encoding MICAL-like protein 2 (Q8IY33). Effector of small Rab GTPases which is involved in junctional complexes assembly through the regulation of cell adhesion molecules transport to the plasma membrane and actin cytoskeleton reorganization.

Enables filamin binding activity. Involved in positive regulation of protein targeting to mitochondrion. Predicted to be located in several cellular components, including bicellular tight junction; recycling endosome; and stress fiber.

Source: NCBI Gene 79778 — RefSeq curated summary.

At a glance

  • GWAS associations: 12
  • Clinical variants (ClinVar): 315 total — 1 pathogenic
  • MANE Select transcript: NM_182924

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29672
Approved symbolMICALL2
NameMICAL like 2
Location7p22.3
Locus typegene with protein product
StatusApproved
AliasesMGC46023, FLJ23471, MICAL-L2, JRAB
Ensembl geneENSG00000164877
Ensembl biotypeprotein_coding
OMIM620912
Entrez79778

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 12 retained_intron, 6 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000297508, ENST00000413446, ENST00000460198, ENST00000467394, ENST00000467783, ENST00000470807, ENST00000471899, ENST00000472100, ENST00000479007, ENST00000482839, ENST00000487156, ENST00000487187, ENST00000490608, ENST00000493998, ENST00000496184, ENST00000873414, ENST00000873415, ENST00000873416, ENST00000873417, ENST00000912207

RefSeq mRNA: 1 — MANE Select: NM_182924 NM_182924

CCDS: CCDS5324

Canonical transcript exons

ENST00000297508 — 17 exons

ExonStartEnd
ENSE0000108821314421921442484
ENSE0000118299814405911440684
ENSE0000189829514591841459470
ENSE0000347382814467131446828
ENSE0000348213814378901437980
ENSE0000349552914446521445428
ENSE0000349598014351011435147
ENSE0000351077814486201448761
ENSE0000352866714475751447765
ENSE0000356881814382891438353
ENSE0000357408414343591434672
ENSE0000361472814367421436856
ENSE0000362387014388401438995
ENSE0000364785114380971438220
ENSE0000365231614399251440085
ENSE0000367056714502401450288
ENSE0000367233414375351437608

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 98.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.5387 / max 742.3218, expressed in 1733 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
824117.23791566
824132.92841475
824120.3724161

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
tibial nerveUBERON:000132398.36gold quality
sural nerveUBERON:001548898.34gold quality
right adrenal gland cortexUBERON:003582797.46gold quality
right adrenal glandUBERON:000123397.38gold quality
mucosa of transverse colonUBERON:000499197.36gold quality
left adrenal gland cortexUBERON:003582597.13gold quality
left adrenal glandUBERON:000123496.92gold quality
lower esophagus mucosaUBERON:003583495.96gold quality
spleenUBERON:000210695.71gold quality
small intestine Peyer’s patchUBERON:000345495.69gold quality
adrenal cortexUBERON:000123595.64gold quality
transverse colonUBERON:000115795.15gold quality
body of stomachUBERON:000116195.08gold quality
right uterine tubeUBERON:000130294.92gold quality
right frontal lobeUBERON:000281094.82gold quality
right coronary arteryUBERON:000162594.20gold quality
adenohypophysisUBERON:000219693.94gold quality
adrenal glandUBERON:000236993.87gold quality
small intestineUBERON:000210893.77gold quality
olfactory segment of nasal mucosaUBERON:000538693.64gold quality
metanephros cortexUBERON:001053393.48gold quality
muscle layer of sigmoid colonUBERON:003580593.30gold quality
anterior cingulate cortexUBERON:000983593.17gold quality
cingulate cortexUBERON:000302793.01gold quality
mucosa of stomachUBERON:000119992.98gold quality
descending thoracic aortaUBERON:000234592.68gold quality
amygdalaUBERON:000187692.18gold quality
ascending aortaUBERON:000149692.17gold quality
left coronary arteryUBERON:000162692.15gold quality
endocervixUBERON:000045892.11gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-GEOD-100618yes10.99
E-ANND-3yes6.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

2 targeting MICALL2, 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-135A-2-3P98.4066.74442
HSA-MIR-135B-3P98.4067.35426

Literature-anchored findings (GeneRIF, showing 7)

  • Involved in epithelial cell scattering. (PMID:17891173)
  • Data indicate that MICAL-L2 may be an important regulator of epithelial-mesenchymal transition (EMT) in ovarian cancer cells. (PMID:25864591)
  • We identified one new significant locus at 7p22.3 for the Stroop word interference time (rs11514810, P=3.42E-09 for discovery, P=0.01176 for replication and combined P=5.249E-09). Regulatory feature analysis and expression quantitative trait loci (eQTL) data showed that this locus contributes to MICALL2 expression in the human brain. (PMID:28416812)
  • Up-regulation of MICAL-L2 is associated with gastric cancer cell migration. (PMID:31034158)
  • JRAB/MICAL-L2 undergoes liquid-liquid phase separation to form tubular recycling endosomes. (PMID:33976349)
  • MICALL2 as a substrate of ubiquitinase TRIM21 regulates tumorigenesis of colorectal cancer. (PMID:36307841)
  • Comprehensive Analysis of MICALL2 Reveals Its Potential Roles in EGFR Stabilization and Ovarian Cancer Cell Invasion. (PMID:38203692)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriomicall2bENSDARG00000017834
danio_reriomicall2aENSDARG00000102366
mus_musculusMicall2ENSMUSG00000036718
rattus_norvegicusMicall2ENSRNOG00000022533
drosophila_melanogasterEhbp1FBGN0034180

Paralogs (7): ASPM (ENSG00000066279), MICALL1 (ENSG00000100139), EHBP1 (ENSG00000115504), GAS2 (ENSG00000148935), EHBP1L1 (ENSG00000173442), GAS2L1 (ENSG00000185340), SMTNL1 (ENSG00000214872)

Protein

Protein identifiers

MICAL-like protein 2Q8IY33 (reviewed: Q8IY33)

Alternative names: Junctional Rab13-binding protein, Molecule interacting with CasL-like 2

All UniProt accessions (1): Q8IY33

UniProt curated annotations — full annotation on UniProt →

Function. Effector of small Rab GTPases which is involved in junctional complexes assembly through the regulation of cell adhesion molecules transport to the plasma membrane and actin cytoskeleton reorganization. Regulates the endocytic recycling of occludins, claudins and E-cadherin to the plasma membrane and may thereby regulate the establishment of tight junctions and adherens junctions. In parallel, may regulate actin cytoskeleton reorganization directly through interaction with F-actin or indirectly through actinins and filamins. Most probably involved in the processes of epithelial cell differentiation, cell spreading and neurite outgrowth. Undergoes liquid-liquid phase separation to form tubular recycling endosomes. Plays 2 sequential roles in the biogenesis of tubular recycling endosomes: first organizes phase separation and then the closed form formed by interaction with RAB8A promotes endosomal tubulation.

Subunit / interactions. Interacts with RAB13 (GTP-bound form); competes with RAB8A and is involved in tight junctions assembly. Interacts with RAB8A; competes with RAB13 and is involved in E-cadherin endocytic recycling. Interacts with RAB8B. Interacts (preferentially in opened conformation) with ACTN1 and ACTN4; stimulated by RAB13 activation. Interacts (via calponin-homology (CH) domain) with the filamins FLNA, FLNB and FLNC (via actin-binding domain).

Subcellular location. Cell membrane. Cell junction. Tight junction. Recycling endosome. Cell projection. Cytoplasm. Cytoskeleton.

Domain organisation. Exists in a closed and an open conformation due to interaction of the C-terminal coiled-coil domain with an N-terminal region including the calponin-homology (CH) and the LIM zinc-binding domain. The conformational change is regulated by RAB13 and RAB8A. Adopts its closed form upon interaction with RAB8A and interaction with RAB13 causes conformational change from closed to open.

Isoforms (5)

UniProt IDNamesCanonical?
Q8IY33-11yes
Q8IY33-22
Q8IY33-33
Q8IY33-44
Q8IY33-55

RefSeq proteins (1): NP_891554* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001715CH_domDomain
IPR001781Znf_LIMDomain
IPR022735bMERB_domDomain
IPR036872CH_dom_sfHomologous_superfamily
IPR050540F-actin_Monoox_MicalFamily

Pfam: PF00307, PF00412, PF12130

UniProt features (50 total): compositionally biased region 13, modified residue 13, region of interest 7, splice variant 5, sequence variant 4, domain 3, sequence conflict 3, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8IY33-F156.940.18

Functional residue map

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

Post-translational modifications (13): 110, 143, 153, 249, 294, 494, 504, 598, 644, 649, 658, 660, 726

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 141 (showing top): GOBP_ENDOSOME_ORGANIZATION, PEREZ_TP63_TARGETS, GOBP_VESICLE_ORGANIZATION, GOBP_APICAL_JUNCTION_ASSEMBLY, GOBP_PROTEIN_TARGETING, GOBP_NEUROGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOMF_GTPASE_BINDING, chr7p22, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION, GOBP_SUBSTRATE_ADHESION_DEPENDENT_CELL_SPREADING, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION

GO Biological Process (9): actin cytoskeleton organization (GO:0030036), actin filament polymerization (GO:0030041), neuron projection development (GO:0031175), endocytic recycling (GO:0032456), Rab protein signal transduction (GO:0032482), substrate adhesion-dependent cell spreading (GO:0034446), bicellular tight junction assembly (GO:0070830), endosome membrane tubulation (GO:0097750), obsolete positive regulation of protein targeting to mitochondrion (GO:1903955)

GO Molecular Function (6): filamin binding (GO:0031005), small GTPase binding (GO:0031267), actinin binding (GO:0042805), metal ion binding (GO:0046872), actin filament binding (GO:0051015), protein binding (GO:0005515)

GO Cellular Component (13): stress fiber (GO:0001725), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), bicellular tight junction (GO:0005923), neuron projection (GO:0043005), recycling endosome (GO:0055037), cytoplasm (GO:0005737), endosome (GO:0005768), cytoskeleton (GO:0005856), membrane (GO:0016020), actin filament bundle (GO:0032432), cell projection (GO:0042995), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure4
cytoskeletal protein binding2
cytoskeleton organization1
actin filament-based process1
actin polymerization or depolymerization1
protein polymerization1
neuron development1
plasma membrane bounded cell projection organization1
endosomal transport1
vesicle-mediated transport to the plasma membrane1
small GTPase-mediated signal transduction1
cell-substrate adhesion1
apical junction assembly1
tight junction assembly1
endosome organization1
membrane tubulation1
GTPase binding1
cation binding1
actin binding1
protein-containing complex binding1
binding1
actomyosin1
contractile actin filament bundle1
membrane1
cell periphery1
anchoring junction1
apical junction complex1
tight junction1
plasma membrane bounded cell projection1
endosome1
intracellular anatomical structure1
endomembrane system1
cytoplasmic vesicle1
intracellular membraneless organelle1
actin filament1
actin cytoskeleton1
cell junction1

Protein interactions and networks

STRING

862 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MICALL2RAB13P51153935
MICALL2RAB8AP24407802
MICALL2NEDD9Q14511701
MICALL2RAB10P61026585
MICALL2ACTN4O43707536
MICALL2RAB35Q15286511
MICALL2ALS2CLQ60I27459
MICALL2GRB2P29354445
MICALL2RAB27BO00194424
MICALL2RAB36O95755421
MICALL2RAB12Q6IQ22405
MICALL2MAPKAP1Q9BPZ7397
MICALL2TLE1Q04724388
MICALL2DOCK1Q14185376
MICALL2PDPNQ86YL7374
MICALL2GLI2P10070374

IntAct

48 interactions, top by confidence:

ABTypeScore
ACTN2MICALL2psi-mi:“MI:0915”(physical association)0.780
MICALL2ACTN2psi-mi:“MI:0915”(physical association)0.780
PIGSGPAA1psi-mi:“MI:0914”(association)0.760
MICALL2ACTN1psi-mi:“MI:0915”(physical association)0.720
ACTN1MICALL2psi-mi:“MI:0915”(physical association)0.720
RAB8AWDR91psi-mi:“MI:0914”(association)0.600
MICALL2CDR2psi-mi:“MI:0915”(physical association)0.560
ACTN3MICALL2psi-mi:“MI:0915”(physical association)0.560
ACTN4MICALL2psi-mi:“MI:0915”(physical association)0.560
MICALL2DCDC2psi-mi:“MI:0915”(physical association)0.560
RAB8BBLTP3Bpsi-mi:“MI:0914”(association)0.530
MICALL2ERP29psi-mi:“MI:0915”(physical association)0.400
Rab8aRAB8Apsi-mi:“MI:0915”(physical association)0.400
Hdac6TDGpsi-mi:“MI:0914”(association)0.350
FGD1psi-mi:“MI:0914”(association)0.350
Kif13bTCF3psi-mi:“MI:0914”(association)0.350
NESRPL10psi-mi:“MI:0914”(association)0.350
ZNF281KIF21Bpsi-mi:“MI:0914”(association)0.350
ESR1ESYT2psi-mi:“MI:0914”(association)0.350
MYCPDZD2psi-mi:“MI:0914”(association)0.350

BioGRID (149): MICALL2 (Two-hybrid), MICALL2 (Two-hybrid), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Proximity Label-MS), MICALL2 (Affinity Capture-MS), MICALL2 (Two-hybrid), MICALL2 (Two-hybrid), MICALL2 (Two-hybrid)

ESM2 similar proteins: A1L1I3, A5PKW4, O08919, O70405, O75385, O75420, O75553, P16554, P42128, P49757, P53814, P85037, P97318, P98081, Q04637, Q2LC84, Q3UCQ1, Q4KMP7, Q5DTT2, Q5I1X5, Q5RBR0, Q5VZ18, Q69ZH9, Q69ZI1, Q7TN02, Q7Z6J0, Q80VC9, Q80XI3, Q80Z38, Q86V15, Q8BGT6, Q8BHL3, Q8BSD5, Q8C120, Q8CI12, Q8IY33, Q8K4J6, Q8N3F8, Q8TEH3, Q8TEJ3

Diamond homologs: A5D7D1, D3ZEN0, D3ZHA0, D3ZHV2, D3ZQL6, E1BBG2, F1MF74, F1RA39, F6QZ15, G3MWR8, G3V7L1, L7UZ85, M9MRD1, O13728, O15020, O43707, O75369, O76329, O88990, O94851, O97592, P05094, P05095, P07751, P11277, P11530, P11531, P11532, P11533, P12814, P13395, P13466, P15508, P16086, P16546, P18091, P20111, P21333, P30427, P35609

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 37 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.

GO biological processes:

GO termPartnersFoldFDR
actin cytoskeleton organization512.4×4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance219
Likely benign29
Benign25

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
375381NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg)Pathogenic

SpliceAI

3346 predictions. Top by Δscore:

VariantEffectΔscore
7:1435100:CCCAG:Cdonor_gain1.0000
7:1435104:G:Cdonor_gain1.0000
7:1436738:TCACC:Tdonor_loss1.0000
7:1436740:A:ACdonor_gain1.0000
7:1436740:ACCGG:Adonor_loss1.0000
7:1436741:C:CCdonor_gain1.0000
7:1436741:CCGGA:Cdonor_loss1.0000
7:1436751:T:TAdonor_gain1.0000
7:1436757:T:TAdonor_gain1.0000
7:1436855:CT:Cacceptor_gain1.0000
7:1437534:CCGGG:Cdonor_gain1.0000
7:1437888:A:ACdonor_gain1.0000
7:1437889:C:CCdonor_gain1.0000
7:1438091:GCTCA:Gdonor_loss1.0000
7:1438092:CTCA:Cdonor_loss1.0000
7:1438093:TCAC:Tdonor_loss1.0000
7:1438094:CA:Cdonor_loss1.0000
7:1438095:ACCT:Adonor_gain1.0000
7:1438095:ACCTC:Adonor_gain1.0000
7:1438096:C:CGdonor_loss1.0000
7:1438096:CCT:Cdonor_gain1.0000
7:1438096:CCTC:Cdonor_gain1.0000
7:1438096:CCTCC:Cdonor_gain1.0000
7:1438098:T:TAdonor_gain1.0000
7:1438099:C:Adonor_gain1.0000
7:1438216:TGCAG:Tacceptor_gain1.0000
7:1438217:GCAG:Gacceptor_gain1.0000
7:1438218:CAG:Cacceptor_gain1.0000
7:1438218:CAGC:Cacceptor_gain1.0000
7:1438219:A:Tacceptor_gain1.0000

AlphaMissense

5814 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
7:1448672:G:CS94R0.999
7:1448672:G:TS94R0.999
7:1448674:T:GS94R0.999
7:1448756:G:CF66L0.999
7:1448756:G:TF66L0.999
7:1448758:A:GF66L0.999
7:1459214:G:TA38D0.999
7:1459229:C:AG33V0.999
7:1459237:G:CF30L0.999
7:1459237:G:TF30L0.999
7:1459238:A:GF30S0.999
7:1459239:A:GF30L0.999
7:1437951:A:GW781R0.998
7:1437951:A:TW781R0.998
7:1448685:G:TP90H0.998
7:1448748:G:TA69D0.998
7:1459196:C:GR44P0.998
7:1459229:C:TG33D0.998
7:1459230:C:AG33C0.998
7:1459230:C:GG33R0.998
7:1459294:G:CC11W0.998
7:1459297:C:AW10C0.998
7:1459297:C:GW10C0.998
7:1459299:A:GW10R0.998
7:1459299:A:TW10R0.998
7:1438114:A:GL765P0.997
7:1448637:A:GF106S0.997
7:1448718:A:GL79P0.997
7:1448730:A:GI75T0.997
7:1448757:A:GF66S0.997

dbSNP variants (sampled 300 via entrez): RS1000038642 (7:1438597 C>T), RS1000059251 (7:1457924 T>C), RS1000103978 (7:1435821 G>A), RS1000132250 (7:1458300 C>T), RS1000285753 (7:1447485 C>T), RS1000301533 (7:1443736 A>G), RS1000415761 (7:1443882 G>A,C), RS1000467377 (7:1443276 A>C,G), RS1000506803 (7:1458914 C>T), RS1000529572 (7:1453396 G>A,C), RS1000551455 (7:1436634 T>A,C), RS1000552809 (7:1450535 C>T), RS1000574090 (7:1447302 C>A,T), RS1000659789 (7:1450687 G>A), RS1000710216 (7:1435599 C>G,T)

Disease associations

OMIM: gene MIM:620912 | disease phenotypes: MIM:213300

GenCC curated gene-disease

Mondo (1): Joubert syndrome 1 (MONDO:0008944)

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

StudyTraitp-value
GCST002934_21Zinc levels8.000000e-06
GCST004336_1Executive inhibition (Stroop WIT and CIT) in attention deficit hyperactivity disorder5.000000e-09
GCST005983_32Serum uric acid levels3.000000e-08
GCST005984_32Glomerular filtration rate9.000000e-39
GCST005985_50Creatinine levels1.000000e-37
GCST005986_37Blood urea nitrogen levels2.000000e-31
GCST005994_2Hematocrit1.000000e-14
GCST005995_14Hemoglobin2.000000e-14
GCST005996_26Red blood cell count3.000000e-12
GCST007725_34Serum uric acid levels5.000000e-10
GCST009103_1Resistance to antihypertensive treatment in hypertension4.000000e-07
GCST011995_3Restless legs syndrome2.000000e-18

EFO canonical traits (6, from GWAS)

EFO IDTrait name
EFO:0007969cognitive inhibition measurement
EFO:0004761uric acid measurement
EFO:0004348hematocrit
EFO:0004509hemoglobin measurement
EFO:0004305erythrocyte count
EFO:1002006treatment-resistant hypertension

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Benzo(a)pyrenedecreases methylation, increases expression3
bisphenol Adecreases expression, decreases methylation2
sodium arsenitedecreases expression, increases abundance2
Arsenicaffects methylation, decreases expression, increases abundance2
Aflatoxin B1increases expression, affects expression2
Particulate Matterdecreases expression, increases expression2
aristolochic acid Iincreases expression1
FR900359affects phosphorylation1
bisphenol Faffects cotreatment, decreases expression1
triphenyl phosphateaffects expression1
trichostatin Aaffects expression1
avobenzoneincreases expression1
clothianidindecreases expression1
abrineincreases expression1
licochalcone Bincreases expression1
bisphenol Saffects cotreatment, decreases expression1
Sunitinibincreases expression1
Amiodaroneincreases expression1
Caffeinedecreases phosphorylation1
Cisplatinincreases expression1
Coumestroldecreases expression1
Dexamethasoneaffects cotreatment, decreases expression1
Doxorubicinincreases expression1
Estradiolincreases expression1
Ethyl Methanesulfonateincreases expression1
Formaldehydeincreases expression1
Indomethacinaffects cotreatment, decreases expression1
Methyl Methanesulfonateincreases expression1
Quercetinincreases expression1
Smokedecreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Joubert syndrome 1, restless legs syndrome