MBNL2

gene
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Also known as MBLLMBLL39

Summary

MBNL2 (muscleblind like splicing regulator 2, HGNC:16746) is a protein-coding gene on chromosome 13q32.1, encoding Muscleblind-like protein 2 (Q5VZF2). Mediates pre-mRNA alternative splicing regulation.

This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined.

Source: NCBI Gene 10150 — RefSeq curated summary.

At a glance

  • GWAS associations: 11
  • Clinical variants (ClinVar): 36 total
  • MANE Select transcript: NM_001382683

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:16746
Approved symbolMBNL2
Namemuscleblind like splicing regulator 2
Location13q32.1
Locus typegene with protein product
StatusApproved
AliasesMBLL, MBLL39
Ensembl geneENSG00000139793
Ensembl biotypeprotein_coding
OMIM607327
Entrez10150

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 20 protein_coding, 1 nonsense_mediated_decay

ENST00000343600, ENST00000345429, ENST00000376673, ENST00000397601, ENST00000449284, ENST00000469707, ENST00000679496, ENST00000685165, ENST00000692685, ENST00000704364, ENST00000704373, ENST00000899849, ENST00000899850, ENST00000899851, ENST00000899852, ENST00000899853, ENST00000899854, ENST00000899855, ENST00000944724, ENST00000944725, ENST00000944726

RefSeq mRNA: 45 — MANE Select: NM_001382683 NM_001306070, NM_001382649, NM_001382650, NM_001382651, NM_001382652, NM_001382653, NM_001382654, NM_001382656, NM_001382660, NM_001382661, NM_001382663, NM_001382666, NM_001382667, NM_001382668, NM_001382669, NM_001382670, NM_001382671, NM_001382672, NM_001382673, NM_001382674, NM_001382675, NM_001382676, NM_001382677, NM_001382678, NM_001382679, NM_001382680, NM_001382681, NM_001382682, NM_001382683, NM_001382684, NM_001382685, NM_001382686, NM_001382687, NM_001382688, NM_001382689, NM_001382690, NM_001382691, NM_001382692, NM_001382693, NM_001382694, NM_001382695, NM_001382696, NM_001382697, NM_144778, NM_207304

CCDS: CCDS76644, CCDS91823, CCDS91824, CCDS91825, CCDS9483, CCDS9484

Canonical transcript exons

ENST00000679496 — 9 exons

ExonStartEnd
ENSE000013665839734680497347067
ENSE000016548289734301697343216
ENSE000017191689733427697334440
ENSE000027182469727563297276409
ENSE000035413589735748297357635
ENSE000036391979739132297394120
ENSE000039154289722233397222531
ENSE000039915109736513697365171
ENSE000039915429735679697356849

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 99.18.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.3827 / max 1519.6763, expressed in 1778 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter IDTPM avgSamples expressed
13572057.40611775
1357181.5266399
1357220.4801243
1357230.4183151
1357260.2443105
1357240.130827
1357330.081226
1357210.062014
1357250.033310

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
endothelial cellCL:000011599.18gold quality
lateral globus pallidusUBERON:000247698.50gold quality
heart right ventricleUBERON:000208098.44gold quality
inferior vagus X ganglionUBERON:000536398.43gold quality
lateral nuclear group of thalamusUBERON:000273698.35gold quality
subthalamic nucleusUBERON:000190698.34gold quality
substantia nigra pars reticulataUBERON:000196698.29gold quality
ponsUBERON:000098898.26gold quality
substantia nigra pars compactaUBERON:000196598.14gold quality
cranial nerve IIUBERON:000094198.03gold quality
corpus callosumUBERON:000233697.98gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450297.94gold quality
biceps brachiiUBERON:000150797.87gold quality
inferior olivary complexUBERON:000212797.81gold quality
superficial temporal arteryUBERON:000161497.60gold quality
medulla oblongataUBERON:000189697.60gold quality
Brodmann (1909) area 23UBERON:001355497.40gold quality
postcentral gyrusUBERON:000258197.38gold quality
superior vestibular nucleusUBERON:000722797.36gold quality
parietal lobeUBERON:000187297.34gold quality
periodontal ligamentUBERON:000826697.15gold quality
CA1 field of hippocampusUBERON:000388197.12gold quality
cauda epididymisUBERON:000436097.01gold quality
calcaneal tendonUBERON:000370196.98gold quality
ventral tegmental areaUBERON:000269196.91gold quality
dorsal plus ventral thalamusUBERON:000189796.83gold quality
saphenous veinUBERON:000731896.81gold quality
entorhinal cortexUBERON:000272896.69gold quality
seminal vesicleUBERON:000099896.60gold quality
occipital lobeUBERON:000202196.58gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes10.04
E-CURD-10no497.63
E-GEOD-81608no4.67

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA3

miRNA regulators (miRDB)

348 targeting MBNL2, 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-5011-5P100.0083.465820
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-5193100.0067.261744
HSA-MIR-3163100.0077.238605
HSA-MIR-5692A100.0074.406850
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-4262100.0073.263931
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-340-5P100.0072.504437
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-3646100.0073.565283
HSA-MIR-4510100.0066.602050
HSA-MIR-6127100.0066.762188
HSA-MIR-6129100.0066.462080
HSA-MIR-6130100.0066.692012
HSA-MIR-6133100.0066.482064
HSA-MIR-3924100.0072.092394
HSA-MIR-6873-3P100.0071.422626
HSA-MIR-7110-3P100.0073.182486

Literature-anchored findings (GeneRIF, showing 12)

  • MBNL proteins promote opposite splicing patterns for cardiac troponin T and insulin receptor alternative exons (PMID:15257297)
  • MBNL1 and MBNL2 always co-distributed. Functional differences between MBNL1 and MBNL2 have not yet been found (PMID:19095965)
  • solution structures of both tandem zinc finger (TZF) motifs, TZF12 (comprising ZF1 and ZF2) and TZF34 (ZF3 and ZF4), in MBNL2 (PMID:19177353)
  • We propose that major pathological features of the myotonic dystrophy brain result from disruption of the MBNL2-mediated developmental splicing program (PMID:22884328)
  • consistent with a central and negative regulatory role for MBNL proteins in pluripotency, their knockdown significantly enhances the expression of key pluripotency genes and the formation of induced pluripotent stem cells during somatic cell reprogramming (PMID:23739326)
  • both MBNL1 and MBNL2 are involved in the regulation of Tau exon 2 splicing and the mis-splicing of Tau in DM1 is due to the combined inactivation of both (PMID:24440524)
  • Sense DMPK RNA foci clearly co-localize with MBNL1 and MBNL2 proteins and accumulate in myotonic dystrophy 1 tissues during development. (PMID:26339785)
  • Low MBNL2 expression is associated with hepatocellular carcinoma growth and invasion. (PMID:27564110)
  • Functional depletion of the alternative splicing factors Muscleblind-like (MBNL 1 and 2) is at the basis of the neuromuscular disease myotonic dystrophy type 1 (DM1). Here, we screen for miRNAs that regulate MBNL1 and MBNL2 in HeLa cells. We thus identify miR-23b and miR-218, and confirm that they downregulate MBNL proteins in this cell line. (PMID:29946070)
  • MBNL2 induction was critical for hypoxia adaptation by controlling the transcript abundance of hypoxia response genes, such as vascular endothelial growth factor A (VEGFA) MBNL2 depletion reduced the proliferation and migration of cancer cells, demonstrating an important role of MBNL2 as cancer driver. (PMID:32127384)
  • SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson’s disease in southern Chinese population. (PMID:32652860)
  • MBNL2 Regulates DNA Damage Response via Stabilizing p21. (PMID:33466733)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriombnl2ENSDARG00000018460
mus_musculusMbnl2ENSMUSG00000022139
rattus_norvegicusMbnl2ENSRNOG00000010737
drosophila_melanogastermblFBGN0265487
caenorhabditis_elegansWBGENE00019347

Paralogs (3): MBNL3 (ENSG00000076770), ZC3H10 (ENSG00000135482), MBNL1 (ENSG00000152601)

Protein

Protein identifiers

Muscleblind-like protein 2Q5VZF2 (reviewed: Q5VZF2)

Alternative names: Muscleblind-like protein 1, Muscleblind-like protein-like, Muscleblind-like protein-like 39

All UniProt accessions (9): Q5VZF2, A0A7P0T9I3, A0A8I5KU79, A0A8I5KYZ5, A0A994J506, A0A994J509, A2A3S3, O95205, Q5JSC0

UniProt curated annotations — full annotation on UniProt →

Function. Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. RNA-binding protein that binds to 5’ACACCC-3’ core sequence, termed zipcode, within the 3’UTR of ITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophy muscle cells by sequestering the target RNAs. Together with RNA binding proteins RBPMS and RBFOX2, activates vascular smooth muscle cells alternative splicing events. Regulates NCOR2 alternative splicing. Seems to regulate expression and localization of ITGA3 by transporting it from the nucleus to cytoplasm at adhesion plaques. May play a role in myotonic dystrophy pathophysiology (DM).

Subunit / interactions. Interacts with ITGA3.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Similarity. Belongs to the muscleblind family.

Isoforms (3)

UniProt IDNamesCanonical?
Q5VZF2-11yes
Q5VZF2-22
Q5VZF2-33

RefSeq proteins (45): NP_001292999, NP_001369578, NP_001369579, NP_001369580, NP_001369581, NP_001369582, NP_001369583, NP_001369585, NP_001369589, NP_001369590, NP_001369592, NP_001369595, NP_001369596, NP_001369597, NP_001369598, NP_001369599, NP_001369600, NP_001369601, NP_001369602, NP_001369603, NP_001369604, NP_001369605, NP_001369606, NP_001369607, NP_001369608, NP_001369609, NP_001369610, NP_001369611, NP_001369612, NP_001369613, NP_001369614, NP_001369615, NP_001369616, NP_001369617, NP_001369618, NP_001369619, NP_001369620, NP_001369621, NP_001369622, NP_001369623, NP_001369624, NP_001369625, NP_001369626, NP_659002, NP_997187 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000571Znf_CCCHDomain
IPR054429Znf-CCCH_Muscleblind-likeDomain

Pfam: PF00642, PF22628

UniProt features (24 total): strand 7, helix 7, zinc finger region 4, turn 2, splice variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDBMethodResolution (Å)
2E5SSOLUTION NMR
2RPPSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5VZF2-F165.760.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 379 (showing top): ATF_B, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, MULLIGHAN_NPM1_SIGNATURE_3_UP, FREAC2_01, FISCHER_G1_S_CELL_CYCLE, NKX25_02, AMIT_EGF_RESPONSE_60_HELA, GCANCTGNY_MYOD_Q6, TTTGTAG_MIR520D, TATTATA_MIR374, TAL1ALPHAE47_01, HNF1_Q6, CAGCTG_AP4_Q5, NKX61_01, CREB_Q4

GO Biological Process (3): mRNA processing (GO:0006397), RNA splicing (GO:0008380), regulation of RNA splicing (GO:0043484)

GO Molecular Function (5): RNA binding (GO:0003723), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
RNA processing2
cellular anatomical structure2
mRNA metabolic process1
RNA splicing1
regulation of gene expression1
regulation of primary metabolic process1
nucleic acid binding1
transition metal ion binding1
double-stranded DNA binding1
sequence-specific DNA binding1
binding1
cation binding1
nuclear lumen1
intracellular anatomical structure1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

1114 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MBNL2CNBPP20694972
MBNL2CELF1Q92879906
MBNL2CLCN1P35523901
MBNL2QKIQ96PU8890
MBNL2DMPKQ09013850
MBNL2MBNL3Q9NUK0646
MBNL2CELF2O95319646
MBNL2CELF3Q5SZQ8617
MBNL2RBFOX2O43251607
MBNL2ADARP55265603
MBNL2CEBPDP49716598
MBNL2ZNF609O15014592
MBNL2ATP2A1O14983585
MBNL2MBNL1Q9NR56581
MBNL2RBFOX1Q9NWB1576

IntAct

4 interactions, top by confidence:

ABTypeScore
MBNL2ACOX1psi-mi:“MI:0915”(physical association)0.400
MBNL1MBNL2psi-mi:“MI:0914”(association)0.350
MBNL2prmCpsi-mi:“MI:0915”(physical association)0.000

BioGRID (38): MBNL2 (Affinity Capture-RNA), MBNL2 (Affinity Capture-RNA), MBNL2 (Affinity Capture-MS), MBNL2 (Affinity Capture-MS), MBNL2 (Affinity Capture-MS), ACOX1 (Affinity Capture-MS), MBNL2 (Affinity Capture-MS), MBNL2 (Affinity Capture-MS), ACOX1 (Affinity Capture-MS), MBNL2 (Affinity Capture-RNA), MBNL2 (Two-hybrid), TIAL1 (Two-hybrid), MBNL2 (Proximity Label-MS), MBNL2 (Proximity Label-MS), MBNL2 (Proximity Label-MS)

ESM2 similar proteins: A0A8I6B1J2, A0AV96, A8XND8, B3M3R5, B3NGA1, B4HUE4, B4IX08, B4KX02, B4LFQ9, B4MM23, B4PIS2, B4QRJ0, F2Z3T4, G5EFF1, O01367, P16914, P31367, Q0V9L3, Q24312, Q32NN2, Q56V19, Q5R4F5, Q5R5P4, Q5VZF2, Q5W9D5, Q5W9D6, Q5W9D7, Q5ZKW9, Q66H68, Q6IRN2, Q6P0D0, Q6P104, Q6Q2B2, Q7JJZ8, Q7TSY6, Q8C181, Q8MSV2, Q8R003, Q8R205, Q91WT8

Diamond homologs: A0A8I6B1J2, A8XND8, F2Z3T4, O16011, Q0JD07, Q56V19, Q5R4F5, Q5VZF2, Q5ZKW9, Q6Q2B2, Q8C181, Q8R003, Q94250, Q9JKP5, Q9NR56, Q9NUK0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance29
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2171 predictions. Top by Δscore:

VariantEffectΔscore
13:97334270:TTACA:Tacceptor_loss1.0000
13:97334271:TACA:Tacceptor_loss1.0000
13:97334273:CA:Cacceptor_loss1.0000
13:97334274:A:AGacceptor_gain1.0000
13:97334274:AG:Aacceptor_gain1.0000
13:97334274:AGG:Aacceptor_gain1.0000
13:97334275:G:Aacceptor_loss1.0000
13:97334275:G:GAacceptor_gain1.0000
13:97334275:GG:Gacceptor_gain1.0000
13:97334275:GGG:Gacceptor_gain1.0000
13:97334275:GGGCC:Gacceptor_gain1.0000
13:97334436:CAGTG:Cdonor_gain1.0000
13:97334438:GTG:Gdonor_gain1.0000
13:97334439:TGG:Tdonor_loss1.0000
13:97334441:G:Cdonor_loss1.0000
13:97334441:G:GGdonor_gain1.0000
13:97334442:TGA:Tdonor_loss1.0000
13:97334443:GAG:Gdonor_loss1.0000
13:97334444:AGTA:Adonor_loss1.0000
13:97343214:G:GTdonor_gain1.0000
13:97347065:ATGG:Adonor_loss1.0000
13:97347066:TGGTA:Tdonor_loss1.0000
13:97347068:GTA:Gdonor_loss1.0000
13:97347069:T:Gdonor_loss1.0000
13:97356685:A:AGacceptor_gain1.0000
13:97356685:AAT:Aacceptor_gain1.0000
13:97357477:TCTA:Tacceptor_loss1.0000
13:97357478:CTAG:Cacceptor_loss1.0000
13:97357480:A:AGacceptor_gain1.0000
13:97357480:A:Cacceptor_loss1.0000

AlphaMissense

2558 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
13:97276272:T:AW13R1.000
13:97276272:T:CW13R1.000
13:97276273:G:CW13S1.000
13:97276274:G:CW13C1.000
13:97276274:G:TW13C1.000
13:97276276:T:AL14Q1.000
13:97276276:T:CL14P1.000
13:97276284:G:AE17K1.000
13:97276288:T:AV18D1.000
13:97276290:T:AC19S1.000
13:97276290:T:CC19R1.000
13:97276291:G:AC19Y1.000
13:97276291:G:CC19S1.000
13:97276291:G:TC19F1.000
13:97276292:C:GC19W1.000
13:97276294:G:CR20T1.000
13:97276294:G:TR20I1.000
13:97276295:A:CR20S1.000
13:97276295:A:TR20S1.000
13:97276314:T:AC27S1.000
13:97276314:T:CC27R1.000
13:97276315:G:AC27Y1.000
13:97276315:G:CC27S1.000
13:97276315:G:TC27F1.000
13:97276316:C:GC27W1.000
13:97276335:T:AC34S1.000
13:97276335:T:CC34R1.000
13:97276336:G:AC34Y1.000
13:97276336:G:CC34S1.000
13:97276336:G:TC34F1.000

dbSNP variants (sampled 300 via entrez): RS1000000735 (13:97141693 T>C), RS1000027850 (13:97364402 A>T), RS1000028168 (13:97150243 G>A), RS1000037784 (13:97270299 TATTA>T), RS1000037822 (13:97222287 A>G), RS1000057248 (13:97143758 A>G), RS1000060086 (13:97254498 C>T), RS1000081969 (13:97367080 C>T), RS1000084440 (13:97312996 T>C), RS1000086735 (13:97319801 G>A), RS1000093012 (13:97354067 C>T), RS1000094178 (13:97193460 A>T), RS1000118977 (13:97302822 C>A), RS1000128355 (13:97233033 T>A), RS1000185613 (13:97264058 G>A)

Disease associations

OMIM: gene MIM:607327 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

StudyTraitp-value
GCST001053_5Alcoholism (alcohol use disorder factor score)2.000000e-06
GCST001054_4Alcoholism (alcohol dependence factor score)8.000000e-07
GCST001762_447Obesity-related traits6.000000e-06
GCST004524_1Energy expenditure (24h)6.000000e-07
GCST004524_4Energy expenditure (24h)4.000000e-06
GCST006630_41Diastolic blood pressure4.000000e-13
GCST006940_179Neurociticism2.000000e-08
GCST008661_1Lung function in heavy smokers (high FEV1 vs average FEV1)1.000000e-07
GCST008758_89Pre-treatment viral load in HIV-1 infection3.000000e-18
GCST009325_14Parkinson’s disease or first degree relation to individual with Parkinson’s disease1.000000e-09
GCST010485_3Platelet reactivity in response to clopidogrel treatment6.000000e-06

EFO canonical traits (5, from GWAS)

EFO IDTrait name
EFO:0005108arm span
EFO:0006336diastolic blood pressure
EFO:0007660neuroticism measurement
EFO:0004314forced expiratory volume
EFO:0010125viral load

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
trichostatin Aaffects cotreatment, increases expression, affects expression4
sodium arseniteaffects cotreatment, increases abundance, increases expression, decreases expression4
Valproic Acidaffects cotreatment, increases expression, decreases expression4
Arsenicincreases expression, affects cotreatment, decreases expression, increases methylation, increases abundance3
Benzo(a)pyreneincreases expression, affects methylation, decreases expression3
Cyclosporineincreases expression3
bisphenol Aaffects cotreatment, decreases methylation, increases expression2
entinostatdecreases expression, affects cotreatment2
Air Pollutantsdecreases expression, increases abundance2
Phenylmercuric Acetateaffects cotreatment, increases expression2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression2
Cadmium Chlorideincreases expression2
aristolochic acid Idecreases expression1
geldanamycinincreases expression1
testosterone enanthateaffects expression1
methylmercuric chloridedecreases expression, increases expression1
triphenyl phosphateaffects expression1
methylselenic acidincreases expression1
sodium arsenateincreases abundance, increases expression1
nickel chlorideincreases expression1
zinc chromateincreases abundance, increases expression1
manganese chlorideincreases abundance, affects cotreatment, decreases expression1
potassium chromate(VI)affects cotreatment, decreases expression1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamineincreases expression1
beta-methylcholineaffects expression1
epigallocatechin gallateaffects cotreatment, decreases expression1
chromium hexavalent ionincreases abundance, increases expression1
pentabromodiphenyl etherincreases expression1
CGP 52608affects binding, increases reaction1

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): alcohol dependence