BAALC

gene
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Summary

BAALC (BAALC binder of MAP3K1 and KLF4, HGNC:14333) is a protein-coding gene on chromosome 8q22.3, encoding Brain and acute leukemia cytoplasmic protein (Q8WXS3). May play a synaptic role at the postsynaptic lipid rafts possibly through interaction with CAMK2A.

This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines.

Source: NCBI Gene 79870 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 27 total
  • MANE Select transcript: NM_024812

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:14333
Approved symbolBAALC
NameBAALC binder of MAP3K1 and KLF4
Location8q22.3
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000164929
Ensembl biotypeprotein_coding
OMIM606602
Entrez79870

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000297574, ENST00000306391, ENST00000309982, ENST00000330955, ENST00000438105, ENST00000517863, ENST00000519507, ENST00000521926, ENST00000523754, ENST00000964302

RefSeq mRNA: 3 — MANE Select: NM_024812 NM_001024372, NM_001364874, NM_024812

CCDS: CCDS47906, CCDS6297, CCDS94326

Canonical transcript exons

ENST00000309982 — 3 exons

ExonStartEnd
ENSE00001523107103140725103141057
ENSE00002114046103227989103230305
ENSE00003691623103212919103213085

Expression profiles

Bgee: expression breadth ubiquitous, 213 present calls, max score 98.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.2535 / max 797.6099, expressed in 1027 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
9010325.6563995
901042.1014485
2052800.2027123
901050.1949106
901020.098357

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
putamenUBERON:000187498.89gold quality
right frontal lobeUBERON:000281098.80gold quality
superior vestibular nucleusUBERON:000722798.74gold quality
anterior cingulate cortexUBERON:000983598.73gold quality
caudate nucleusUBERON:000187398.71gold quality
cingulate cortexUBERON:000302798.69gold quality
amygdalaUBERON:000187698.67gold quality
hypothalamusUBERON:000189898.58gold quality
cranial nerve IIUBERON:000094198.57gold quality
substantia nigraUBERON:000203898.49gold quality
dorsolateral prefrontal cortexUBERON:000983498.49gold quality
prefrontal cortexUBERON:000045198.47gold quality
Brodmann (1909) area 9UBERON:001354098.47gold quality
midbrainUBERON:000189198.45gold quality
lateral globus pallidusUBERON:000247698.35gold quality
nucleus accumbensUBERON:000188298.28gold quality
frontal cortexUBERON:000187098.23gold quality
medulla oblongataUBERON:000189698.23gold quality
ventral tegmental areaUBERON:000269198.20gold quality
Ammon’s hornUBERON:000195497.98gold quality
spinal cordUBERON:000224097.97gold quality
C1 segment of cervical spinal cordUBERON:000646997.91gold quality
telencephalonUBERON:000189397.87gold quality
neocortexUBERON:000195097.83gold quality
subthalamic nucleusUBERON:000190697.73gold quality
ponsUBERON:000098897.69gold quality
corpus callosumUBERON:000233697.63gold quality
substantia nigra pars reticulataUBERON:000196697.60gold quality
substantia nigra pars compactaUBERON:000196597.58gold quality
cerebral cortexUBERON:000095697.57gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-MTAB-9067yes334.32
E-MTAB-8271yes16.37
E-ANND-3yes3.98
E-CURD-11no6.22

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): RUNX1

miRNA regulators (miRDB)

108 targeting BAALC, 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-513A-5P100.0069.772465
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-4533100.0069.482758
HSA-MIR-4476100.0068.182030
HSA-MIR-6876-5P100.0067.682126
HSA-MIR-4713-3P100.0065.92505
HSA-MIR-6758-5P100.0066.211470
HSA-MIR-4692100.0067.322066
HSA-MIR-366299.9973.825684
HSA-MIR-4482-3P99.9872.503147
HSA-MIR-6793-5P99.9765.95758
HSA-MIR-6888-3P99.9765.951170
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-493-5P99.9672.472382
HSA-MIR-651-3P99.9473.485177
HSA-MIR-548J-3P99.9472.614881
HSA-MIR-6721-5P99.9368.922981
HSA-MIR-4778-3P99.9370.401818
HSA-MIR-548AE-3P99.9372.664867
HSA-MIR-548AH-3P99.9372.544872
HSA-MIR-548AM-3P99.9372.544872
HSA-MIR-548AQ-3P99.9372.664867
HSA-MIR-450B-5P99.9271.483175
HSA-MIR-449699.8868.892236
HSA-MIR-469899.8471.414303
HSA-MIR-684499.8270.692423
HSA-MIR-323A-3P99.7970.301739
HSA-MIR-3617-5P99.7569.411968
HSA-MIR-64199.7569.351975

Literature-anchored findings (GeneRIF, showing 40)

  • The BAALC gene, located on chromosome 8q22.3, encodes a protein with no homology to any known proteins or functional domains. (PMID:15604894)
  • High transcript levels occur in leukemic blasts from some patients with acute myeloid leukemia. (PMID:15749074)
  • Low expression of both ERG and BAALC identifies T-ALL patients with a distinctly favorable long-term outcome. (PMID:17646667)
  • high BAALC expression is an independent adverse prognostic factor and is associated with a specific gene-expression profile (PMID:18378853)
  • Up-regulation of BAALC gene may be an important alteration in AML-M2 patients with t(8;21) translocation. (PMID:18671757)
  • Presence of both EVI1 and/or BAALC in chronic myeloid patients was found to modulate the disease pattern (PMID:18752846)
  • Overexpression of BAALC and ERG either separate or concomitant predict adverse clinical outcome and may define important risk factor in cytogenetically normal acute myeloid leukemia (PMID:19555438)
  • BAALC is a relevant prognostic marker in intermediate-risk acute myeloid leukemia patients, with high versus low BAALC expressors showing lower complete remission rate after salvage therapy. (PMID:19943049)
  • High BAALC expression is associated with chemoresistance in adult B-precursor acute lymphoblastic leukemia. (PMID:20065290)
  • CEBPA mutation status and BAALC expression are important prognostic factors in acute myeloid leukemia patients with normal cytogenetics. (PMID:20306678)
  • 1-5-6-8 BAALC isoform expression may be associated with an adverse prognosis in pediatric acute myeloid leukemia with normal karyotype. (PMID:20495894)
  • In contrast to BAALC, which likely represents only a surrogate marker of treatment failure in acute leukemia, IGFBP7 regulates the proliferation of leukemic cells and might be involved in chemotherapy resistance (PMID:20535151)
  • High BAALC expression levels are associated with acute myeloid leukemia. (PMID:20841507)
  • Low ERG and BAALC expression (E/B(low)) and NOTCH1/FBXW7 (N/F) mutations have been proposed as powerful prognostic markers in large cohorts of adult T-ALL. (PMID:21835957)
  • Presence of FLT3-ITD and high BAALC expression are independent prognostic markers in childhood acute myeloid leukemia. (PMID:21967978)
  • These findings indicate that BAALC gene is “paused” and that in leukemia cells its transcription can be activated or repressed by mechanisms acting on epigenetic marks. (PMID:22197554)
  • A high MEBE (MN1,ERG, BAALC, EVI1) expression score is an unfavorable prognostic marker in Myelodysplastic syndrome and is associated with an increased risk for progression to Acute myeloid leukemia. (PMID:22488406)
  • identify a heritable genomic feature predisposing to overexpression of an oncogene (BAALC), thereby possibly leading to enhanced AML leukemogenesis (PMID:22493267)
  • high expression of miR-3151 is an independent prognosticator for poor outcome in cytogenetically normal-AML and affects different outcome end points than its host gene, BAALC (PMID:22529287)
  • data show that higher levels of VEGF-A(CSF) are closely related to CNS leukemia (CNSL), and VEGF-A(CSF) may be a better predictor than the other risk factors elucidating the pathogenesis and development of CNSL (PMID:23287429)
  • Higher BAALC expression and FLT3-ITD mutation, both individually and in combination, were associated with worse survival outcomes in CN-AML, and this was also applicable in NPM1-mutated CN-AML, known as a favorable-risk group. (PMID:23647058)
  • higher post-HSCT BAALC and WT1 expressions in patients with CBF-AML may be good markers of minimal residual disease for the prediction of survival and relapse after HSCT. (PMID:23672350)
  • BAALC overexpression retains its negative prognostic role across all cytogenetic risk groups in acute myeloid leukemia patients. (PMID:23760853)
  • Investigated the prognostic impact of brain and acute leukemia, cytoplasmic (BAALC) expression in acute myeloid leukemia with normal karyotype. (PMID:23865362)
  • miR-3151 introns within BAALC have roles in driving leukemogenesis by deregulating the TP53 pathway (PMID:24736457)
  • Thus low MDR1/low BAALC expression identifies a subgroup of intermediate cytogenetic risk AML patients with a remarkably good long-term outcome achieved by chemotherapy alone. (PMID:24855032)
  • study indicates that overexpression of BAALC serves as an independent prognostic biomarker in acute myeloid leukemia (PMID:25428390)
  • Evaluating WT1 and BAALC gene expression at diagnosis may improve standard risk stratification and possibly refine the therapeutic approach for Myelodysplastic Syndromes patients. (PMID:26012361)
  • demonstrated that BAALC blocks ERK-mediated monocytic differentiation of acute myeloid leukemia cells by trapping Kruppel-like factor 4 (KLF4) in the cytoplasm and inhibiting its function in the nucleus (PMID:26050649)
  • combined determination of both miR-3151 and BAALC improved this prognostic stratification, with patients with low levels of both parameters showing a better outcome compared with those patients harboring increased levels of one or both markers (PMID:26430723)
  • BAALC and ERG genes are specific significant molecular markers in acute myeloid leukemia disease progression, response to treatment and survival. (PMID:26625814)
  • Study provide evidence for an association of rs62527607 [GT] SNP of BAALC gene with multidrug resistance in childhood ALL. (PMID:27372260)
  • BAALC expression-based minimal residual disease detection during therapy may be considered a strategy to identify patients at high risk of relapse. (PMID:27662611)
  • despite of their well-known adverse role in prognosis of AML, neither BAALC nor ERG expression levels at diagnosis had effect on survival of AML patients who underwent allo-HSCT. (PMID:29696374)
  • Downregulation of miR-326 and overexpression of BALLC in drug-resistant acute lymphoblastic leukemia cell line and patients compared with the parental cell line and drug-sensitive patients was found. The expression profiles of miR-326 and BAALC were inversely correlated. Bioinformatics data showed a possible regulatory role for miR-326 on BAALC mRNA. (PMID:32129446)
  • Long non-coding RNA LRRC75A-AS1 facilitates triple negative breast cancer cell proliferation and invasion via functioning as a ceRNA to modulate BAALC. (PMID:32811810)
  • Allogeneic stem cell transplantation mitigates the adverse prognostic impact of high diagnostic BAALC and MN1 expression in AML. (PMID:32862286)
  • Prognostic significance of combined BAALC and MN1 gene expression level in acute myeloid leukemia with normal karyotype. (PMID:33242229)
  • Physical interaction between BAALC and DBN1 induces chemoresistance in leukemia. (PMID:33453340)
  • iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia. (PMID:33894142)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriobaalcaENSDARG00000077775
danio_reriobaalcbENSDARG00000089549
mus_musculusBaalcENSMUSG00000022296
rattus_norvegicusBaalcENSRNOG00000004697

Protein

Protein identifiers

Brain and acute leukemia cytoplasmic proteinQ8WXS3 (reviewed: Q8WXS3)

All UniProt accessions (1): Q8WXS3

UniProt curated annotations — full annotation on UniProt →

Function. May play a synaptic role at the postsynaptic lipid rafts possibly through interaction with CAMK2A.

Subunit / interactions. Interacts with CAMK2A.

Subcellular location. Cytoplasm. Synapse. Synaptosome. Membrane raft. Postsynaptic density.

Tissue specificity. Predominantly expressed in neuroectoderm-derived tissues. Expressed in the brain and spinal cord, and at low levels, in the adrenal gland. In the bone marrow, confined to the CD34+ progenitor cells. Not found in peripheral blood mononuclear cells, nor lymph nodes. Tends to be expressed at high levels in acute myeloid leukemia and glioblastoma cells.

Post-translational modifications. Palmitoylation and myristoylation target the protein to the lipid rafts.

Isoforms (6)

UniProt IDNamesCanonical?
Q8WXS3-21, 1-6-8yes
Q8WXS3-12, 1-5-6-8
Q8WXS3-33, 1-5-6-7-8
Q8WXS3-44, 1-2
Q8WXS3-55, 1-4-5-6-8
Q8WXS3-66, 1-8

RefSeq proteins (3): NP_001019543, NP_001351803, NP_079088* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR009728BAALCFamily

Pfam: PF06989

UniProt features (18 total): splice variant 8, compositionally biased region 3, region of interest 2, lipid moiety-binding region 2, initiator methionine 1, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8WXS3-F160.470.00

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 (2): 2, 3

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 131 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, VERHAAK_AML_WITH_NPM1_MUTATED_DN, GRAHAM_CML_QUIESCENT_VS_NORMAL_QUIESCENT_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, MARTINEZ_RB1_TARGETS_UP, NIKOLSKY_BREAST_CANCER_8Q12_Q22_AMPLICON, chr8q22, HOEBEKE_LYMPHOID_STEM_CELL_UP, GOCC_NEURON_PROJECTION, DOUGLAS_BMI1_TARGETS_UP, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, ATGTCAC_MIR489, BOQUEST_STEM_CELL_DN, MODULE_47, MULLIGHAN_MLL_SIGNATURE_2_DN

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (9): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), postsynaptic density (GO:0014069), sarcoplasm (GO:0016528), neuron projection (GO:0043005), membrane raft (GO:0045121), membrane (GO:0016020), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure4
cytoplasm2
binding1
nuclear lumen1
intracellular anatomical structure1
asymmetric synapse1
postsynaptic specialization1
plasma membrane bounded cell projection1
membrane microdomain1
cell junction1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

5 interactions, top by confidence:

ABTypeScore
BAALCAGTR1psi-mi:“MI:0915”(physical association)0.370
BAALCATXN1psi-mi:“MI:0915”(physical association)0.370
MDFIBAALCpsi-mi:“MI:0915”(physical association)0.370
CHEK2BAALCpsi-mi:“MI:0915”(physical association)0.370

BioGRID (22): BAALC (Two-hybrid), BAALC (Two-hybrid), MAP3K1 (Two-hybrid), KLF4 (Two-hybrid), ATP1B3 (Two-hybrid), RNF2 (Two-hybrid), CHD1L (Two-hybrid), CINP (Two-hybrid), OSBPL1A (Two-hybrid), AP1G1 (Two-hybrid), MAP3K1 (Affinity Capture-Western), BAALC (Affinity Capture-Western), KLF4 (Affinity Capture-Western), BAALC (Affinity Capture-Western), MAP3K1 (Reconstituted Complex)

ESM2 similar proteins: A0FKI7, D3Z1Q2, D3Z3C6, D6RIA3, E0CYV9, E9Q7F2, F1MRW8, F1N8V3, F1RDM5, F8W4H9, O15231, O35181, P07106, P0C913, P0CD96, P56975, P59598, Q3TYR5, Q49A92, Q5EBJ4, Q5T8D3, Q5XEM9, Q5XG73, Q5XIV2, Q5ZHQ6, Q6AYA8, Q6PCX9, Q6T4R5, Q6Y685, Q6ZVD7, Q76N89, Q7T3T9, Q8C0X0, Q8IXJ9, Q8IY42, Q8K1L6, Q8K4P8, Q8NA82, Q8NCN4, Q8VHV1

Diamond homologs: Q8VHV1, Q8WNE9, Q8WXS3, Q920K5

SIGNOR signaling

1 interactions.

AEffectBMechanism
RUNX1“up-regulates quantity by expression”BAALC“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance22
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

933 predictions. Top by Δscore:

VariantEffectΔscore
8:103141053:CTCGG:Cdonor_gain1.0000
8:103141055:CGGGT:Cdonor_loss1.0000
8:103141056:GG:Gdonor_gain1.0000
8:103141057:GG:Gdonor_gain1.0000
8:103141057:GGTA:Gdonor_loss1.0000
8:103141058:G:GGdonor_gain1.0000
8:103141059:T:Adonor_loss1.0000
8:103141054:TCGG:Tdonor_gain0.9900
8:103141055:CGG:Cdonor_gain0.9900
8:103141056:GGG:Gdonor_gain0.9900
8:103198088:T:Gacceptor_gain0.9900
8:103211878:TAGA:Tdonor_gain0.9900
8:103211879:AGAA:Adonor_gain0.9900
8:103227980:A:Gacceptor_gain0.9900
8:103227987:A:AGacceptor_gain0.9900
8:103227987:AGGC:Aacceptor_loss0.9900
8:103227988:G:GCacceptor_loss0.9900
8:103227988:G:GGacceptor_gain0.9900
8:103213083:GAG:Gdonor_gain0.9800
8:103227979:A:AGacceptor_gain0.9800
8:103227987:AG:Aacceptor_gain0.9800
8:103227988:GG:Gacceptor_gain0.9800
8:103183351:T:Aacceptor_gain0.9700
8:103212855:G:Aacceptor_gain0.9700
8:103213081:CAGAG:Cdonor_loss0.9700
8:103213082:AGAGG:Adonor_loss0.9700
8:103213083:GAGG:Gdonor_loss0.9700
8:103213084:AGGTA:Adonor_loss0.9700
8:103213085:GGTAG:Gdonor_loss0.9700
8:103213086:G:Adonor_loss0.9700

AlphaMissense

942 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
8:103140976:T:AW27R0.997
8:103140976:T:CW27R0.997
8:103140978:G:CW27C0.996
8:103140978:G:TW27C0.996
8:103140954:G:CW19C0.995
8:103140954:G:TW19C0.995
8:103140980:T:CL28P0.993
8:103140901:G:CG2R0.992
8:103140949:A:CS18R0.992
8:103140951:C:AS18R0.992
8:103140951:C:GS18R0.992
8:103140952:T:AW19R0.992
8:103140952:T:CW19R0.992
8:103140965:C:TT23I0.990
8:103140970:T:CS25P0.990
8:103140904:T:CC3R0.988
8:103140908:G:AG4D0.987
8:103140913:A:CS6R0.987
8:103140915:C:AS6R0.987
8:103140915:C:GS6R0.987
8:103140971:C:TS25F0.987
8:103140968:A:TE24V0.986
8:103140956:C:TT20I0.984
8:103140902:G:AG2D0.983
8:103140906:C:GC3W0.983
8:103140910:G:AG5R0.983
8:103140910:G:CG5R0.983
8:103140974:C:TT26I0.983
8:103140905:G:AC3Y0.982
8:103140980:T:AL28H0.982

dbSNP variants (sampled 300 via entrez): RS1000065587 (8:103167687 G>T), RS1000069622 (8:103210364 A>C,G), RS1000074546 (8:103175406 T>C), RS1000155386 (8:103150302 G>C), RS1000181788 (8:103149405 C>T), RS1000221705 (8:103192435 A>G), RS1000355943 (8:103230484 T>C), RS1000359004 (8:103199413 A>G), RS1000391559 (8:103199721 T>C), RS1000460 (8:103173517 A>G,T), RS1000461 (8:103173983 G>A,C), RS1000496681 (8:103194330 G>A), RS1000573214 (8:103151093 C>T), RS1000608737 (8:103162839 T>C), RS1000694270 (8:103201136 G>C)

Disease associations

OMIM: gene MIM:606602 | disease phenotypes: MIM:216550

GenCC curated gene-disease

Mondo (1): Cohen syndrome (MONDO:0008999)

Orphanet (1): Cohen syndrome (Orphanet:193)

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST003815_33Late-onset Alzheimer’s disease5.000000e-06
GCST006035_4Breast cancer and/or colorectal cancer3.000000e-07
GCST009615_8Triglyceride levels x loop diuretics use interaction4.000000e-06

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:1001870late-onset Alzheimers disease
EFO:0004530triglyceride measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
C536438Cohen syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, decreases methylation, increases expression5
trichostatin Aaffects cotreatment, decreases expression3
entinostatdecreases expression, affects cotreatment2
Arsenic Trioxidedecreases expression2
Tretinoinincreases expression2
TL8-506affects cotreatment, increases expression1
methylmercuric chloridedecreases expression1
uranyl acetateaffects expression1
bisphenol Aaffects cotreatment, decreases methylation1
ferrous chlorideincreases expression1
S-(1,2-dichlorovinyl)cysteinedecreases reaction, increases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
dorsomorphinaffects cotreatment, decreases expression1
bisphenol Sdecreases methylation1
Temozolomidedecreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Air Pollutantsincreases abundance, increases expression1
Arsenicaffects methylation1
Benzo(a)pyreneincreases methylation1
Carbamazepineaffects expression1
Doxorubicindecreases expression1
Endosulfandecreases expression1
Estradioldecreases expression, affects cotreatment1
Leadaffects expression1
Lipopolysaccharidesincreases expression, decreases reaction1
Poly I-Caffects cotreatment, increases expression1
Progesteroneaffects cotreatment, decreases expression1
Smokeincreases abundance, increases expression1
Tobacco Smoke Pollutiondecreases expression1
Uraniumaffects expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT01907555Not specifiedCOMPLETEDClinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Cohen syndrome