BAALC
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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
| Field | Value |
|---|---|
| HGNC ID | HGNC:14333 |
| Approved symbol | BAALC |
| Name | BAALC binder of MAP3K1 and KLF4 |
| Location | 8q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000164929 |
| Ensembl biotype | protein_coding |
| OMIM | 606602 |
| Entrez | 79870 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00001523107 | 103140725 | 103141057 |
| ENSE00002114046 | 103227989 | 103230305 |
| ENSE00003691623 | 103212919 | 103213085 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 90103 | 25.6563 | 995 |
| 90104 | 2.1014 | 485 |
| 205280 | 0.2027 | 123 |
| 90105 | 0.1949 | 106 |
| 90102 | 0.0983 | 57 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| putamen | UBERON:0001874 | 98.89 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.80 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.74 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 98.73 | gold quality |
| caudate nucleus | UBERON:0001873 | 98.71 | gold quality |
| cingulate cortex | UBERON:0003027 | 98.69 | gold quality |
| amygdala | UBERON:0001876 | 98.67 | gold quality |
| hypothalamus | UBERON:0001898 | 98.58 | gold quality |
| cranial nerve II | UBERON:0000941 | 98.57 | gold quality |
| substantia nigra | UBERON:0002038 | 98.49 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.49 | gold quality |
| prefrontal cortex | UBERON:0000451 | 98.47 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.47 | gold quality |
| midbrain | UBERON:0001891 | 98.45 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.35 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.28 | gold quality |
| frontal cortex | UBERON:0001870 | 98.23 | gold quality |
| medulla oblongata | UBERON:0001896 | 98.23 | gold quality |
| ventral tegmental area | UBERON:0002691 | 98.20 | gold quality |
| Ammon’s horn | UBERON:0001954 | 97.98 | gold quality |
| spinal cord | UBERON:0002240 | 97.97 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.91 | gold quality |
| telencephalon | UBERON:0001893 | 97.87 | gold quality |
| neocortex | UBERON:0001950 | 97.83 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.73 | gold quality |
| pons | UBERON:0000988 | 97.69 | gold quality |
| corpus callosum | UBERON:0002336 | 97.63 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.60 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 97.58 | gold quality |
| cerebral cortex | UBERON:0000956 | 97.57 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9067 | yes | 334.32 |
| E-MTAB-8271 | yes | 16.37 |
| E-ANND-3 | yes | 3.98 |
| E-CURD-11 | no | 6.22 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | baalca | ENSDARG00000077775 |
| danio_rerio | baalcb | ENSDARG00000089549 |
| mus_musculus | Baalc | ENSMUSG00000022296 |
| rattus_norvegicus | Baalc | ENSRNOG00000004697 |
Protein
Protein identifiers
Brain and acute leukemia cytoplasmic protein — Q8WXS3 (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 ID | Names | Canonical? |
|---|---|---|
| Q8WXS3-2 | 1, 1-6-8 | yes |
| Q8WXS3-1 | 2, 1-5-6-8 | |
| Q8WXS3-3 | 3, 1-5-6-7-8 | |
| Q8WXS3-4 | 4, 1-2 | |
| Q8WXS3-5 | 5, 1-4-5-6-8 | |
| Q8WXS3-6 | 6, 1-8 |
RefSeq proteins (3): NP_001019543, NP_001351803, NP_079088* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009728 | BAALC | Family |
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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WXS3-F1 | 60.47 | 0.00 |
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:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 2 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| plasma membrane bounded cell projection | 1 |
| membrane microdomain | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BAALC | AGTR1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BAALC | ATXN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MDFI | BAALC | psi-mi:“MI:0915”(physical association) | 0.370 |
| CHEK2 | BAALC | psi-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.
| A | Effect | B | Mechanism |
|---|---|---|---|
| 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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
933 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:103141053:CTCGG:C | donor_gain | 1.0000 |
| 8:103141055:CGGGT:C | donor_loss | 1.0000 |
| 8:103141056:GG:G | donor_gain | 1.0000 |
| 8:103141057:GG:G | donor_gain | 1.0000 |
| 8:103141057:GGTA:G | donor_loss | 1.0000 |
| 8:103141058:G:GG | donor_gain | 1.0000 |
| 8:103141059:T:A | donor_loss | 1.0000 |
| 8:103141054:TCGG:T | donor_gain | 0.9900 |
| 8:103141055:CGG:C | donor_gain | 0.9900 |
| 8:103141056:GGG:G | donor_gain | 0.9900 |
| 8:103198088:T:G | acceptor_gain | 0.9900 |
| 8:103211878:TAGA:T | donor_gain | 0.9900 |
| 8:103211879:AGAA:A | donor_gain | 0.9900 |
| 8:103227980:A:G | acceptor_gain | 0.9900 |
| 8:103227987:A:AG | acceptor_gain | 0.9900 |
| 8:103227987:AGGC:A | acceptor_loss | 0.9900 |
| 8:103227988:G:GC | acceptor_loss | 0.9900 |
| 8:103227988:G:GG | acceptor_gain | 0.9900 |
| 8:103213083:GAG:G | donor_gain | 0.9800 |
| 8:103227979:A:AG | acceptor_gain | 0.9800 |
| 8:103227987:AG:A | acceptor_gain | 0.9800 |
| 8:103227988:GG:G | acceptor_gain | 0.9800 |
| 8:103183351:T:A | acceptor_gain | 0.9700 |
| 8:103212855:G:A | acceptor_gain | 0.9700 |
| 8:103213081:CAGAG:C | donor_loss | 0.9700 |
| 8:103213082:AGAGG:A | donor_loss | 0.9700 |
| 8:103213083:GAGG:G | donor_loss | 0.9700 |
| 8:103213084:AGGTA:A | donor_loss | 0.9700 |
| 8:103213085:GGTAG:G | donor_loss | 0.9700 |
| 8:103213086:G:A | donor_loss | 0.9700 |
AlphaMissense
942 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:103140976:T:A | W27R | 0.997 |
| 8:103140976:T:C | W27R | 0.997 |
| 8:103140978:G:C | W27C | 0.996 |
| 8:103140978:G:T | W27C | 0.996 |
| 8:103140954:G:C | W19C | 0.995 |
| 8:103140954:G:T | W19C | 0.995 |
| 8:103140980:T:C | L28P | 0.993 |
| 8:103140901:G:C | G2R | 0.992 |
| 8:103140949:A:C | S18R | 0.992 |
| 8:103140951:C:A | S18R | 0.992 |
| 8:103140951:C:G | S18R | 0.992 |
| 8:103140952:T:A | W19R | 0.992 |
| 8:103140952:T:C | W19R | 0.992 |
| 8:103140965:C:T | T23I | 0.990 |
| 8:103140970:T:C | S25P | 0.990 |
| 8:103140904:T:C | C3R | 0.988 |
| 8:103140908:G:A | G4D | 0.987 |
| 8:103140913:A:C | S6R | 0.987 |
| 8:103140915:C:A | S6R | 0.987 |
| 8:103140915:C:G | S6R | 0.987 |
| 8:103140971:C:T | S25F | 0.987 |
| 8:103140968:A:T | E24V | 0.986 |
| 8:103140956:C:T | T20I | 0.984 |
| 8:103140902:G:A | G2D | 0.983 |
| 8:103140906:C:G | C3W | 0.983 |
| 8:103140910:G:A | G5R | 0.983 |
| 8:103140910:G:C | G5R | 0.983 |
| 8:103140974:C:T | T26I | 0.983 |
| 8:103140905:G:A | C3Y | 0.982 |
| 8:103140980:T:A | L28H | 0.982 |
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):
| Study | Trait | p-value |
|---|---|---|
| GCST003815_33 | Late-onset Alzheimer’s disease | 5.000000e-06 |
| GCST006035_4 | Breast cancer and/or colorectal cancer | 3.000000e-07 |
| GCST009615_8 | Triglyceride levels x loop diuretics use interaction | 4.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:1001870 | late-onset Alzheimers disease |
| EFO:0004530 | triglyceride measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C536438 | Cohen 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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 5 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Arsenic Trioxide | decreases expression | 2 |
| Tretinoin | increases expression | 2 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| uranyl acetate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| ferrous chloride | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Temozolomide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Endosulfan | decreases expression | 1 |
| Estradiol | decreases expression, affects cotreatment | 1 |
| Lead | affects expression | 1 |
| Lipopolysaccharides | increases expression, decreases reaction | 1 |
| Poly I-C | affects cotreatment, increases expression | 1 |
| Progesterone | affects cotreatment, decreases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Uranium | affects expression | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01907555 | Not specified | COMPLETED | Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Cohen syndrome