MAFF

Summary

MAFF (MAF bZIP transcription factor F, HGNC:6780) is a protein-coding gene on chromosome 22q13.1, encoding Transcription factor MafF (Q9ULX9). Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves.

The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene.

Source: NCBI Gene 23764 — RefSeq curated summary.

At a glance

• GWAS associations: 34
• Clinical variants (ClinVar): 6 total
• MANE Select transcript: NM_012323

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6780
Approved symbol	MAFF
Name	MAF bZIP transcription factor F
Location	22q13.1
Locus type	gene with protein product
Status	Approved
Aliases	hMafF
Ensembl gene	ENSG00000185022
Ensembl biotype	protein_coding
OMIM	604877
Entrez	23764

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 13 protein_coding, 1 retained_intron

ENST00000338483, ENST00000407965, ENST00000417948, ENST00000441709, ENST00000538320, ENST00000624676, ENST00000852023, ENST00000852024, ENST00000852025, ENST00000852026, ENST00000924351, ENST00000955908, ENST00000955909, ENST00000955910

RefSeq mRNA: 4 — MANE Select: NM_012323 NM_001161572, NM_001161573, NM_001161574, NM_012323

CCDS: CCDS13968, CCDS54528

Canonical transcript exons

ENST00000338483 — 3 exons

Exon	Start	End
ENSE00001296382	38213823	38213889
ENSE00001384603	38201994	38202212
ENSE00001814299	38214420	38216507

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 99.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.5964 / max 1536.0350, expressed in 1753 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
192249	14.6928	1569
192246	13.2402	1577
192248	2.0461	914
192247	0.8098	509
192245	0.3162	101
192253	0.1776	80
192251	0.1582	68
192252	0.1099	63
192250	0.0455	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
amniotic fluid	UBERON:0000173	99.73	gold quality
esophagus squamous epithelium	UBERON:0006920	99.15	gold quality
mucosa of paranasal sinus	UBERON:0005030	98.99	gold quality
mucosa of urinary bladder	UBERON:0001259	98.84	gold quality
cartilage tissue	UBERON:0002418	98.37	gold quality
pericardium	UBERON:0002407	98.35	gold quality
epithelium of esophagus	UBERON:0001976	98.30	gold quality
cervix squamous epithelium	UBERON:0006922	98.11	gold quality
vena cava	UBERON:0004087	98.07	gold quality
pancreatic ductal cell	CL:0002079	97.95	gold quality
buccal mucosa cell	CL:0002336	97.75	gold quality
parotid gland	UBERON:0001831	97.50	gold quality
saphenous vein	UBERON:0007318	97.37	gold quality
lower lobe of lung	UBERON:0008949	97.33	gold quality
endothelial cell	CL:0000115	97.28	gold quality
seminal vesicle	UBERON:0000998	97.21	gold quality
squamous epithelium	UBERON:0006914	97.14	gold quality
oral cavity	UBERON:0000167	97.08	gold quality
sperm	CL:0000019	96.82	gold quality
palpebral conjunctiva	UBERON:0001812	96.75	gold quality
placenta	UBERON:0001987	96.72	gold quality
trachea	UBERON:0003126	96.71	gold quality
epithelial cell of pancreas	CL:0000083	96.37	gold quality
cauda epididymis	UBERON:0004360	96.29	gold quality
epithelium of mammary gland	UBERON:0003244	95.68	gold quality
pleura	UBERON:0000977	95.59	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	95.59	gold quality
parietal pleura	UBERON:0002400	95.52	gold quality
blood vessel layer	UBERON:0004797	95.30	gold quality
mammary duct	UBERON:0001765	95.28	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-MTAB-8884	yes	1094.99
E-MTAB-6678	yes	511.06
E-MTAB-11121	yes	340.33
E-CURD-114	yes	54.14
E-MTAB-10287	yes	39.33
E-MTAB-10553	yes	19.64
E-CURD-88	yes	15.19
E-GEOD-137537	yes	6.07
E-MTAB-6386	no	168.37
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

4 targets.

Target	Regulation
GCLC	Activation
IL6	Repression
OXTR	Unknown
PER1

JASPAR motifs

Motif	Name	Family
MA0495.1	MAFF	Maf-related
MA0495.2	MAFF	Maf-related
MA0495.3	MAFF	Maf-related
MA0495.4	MAFF	Maf-related

JASPAR matrix evidence (PMIDs): PMID:8264639

miRNA regulators (miRDB)

68 targeting MAFF, 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-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-3175	99.65	66.30	2031

Literature-anchored findings (GeneRIF, showing 12)

• MafF/NFE2 hetrodimers act as weak transcriptional activators, and, in particular, are able to stimulate activity of the GCS1 promoter. (PMID:12490281)
• In myometrial cells we observed an important induction by interleukin 1 beta and a weaker upregulation by tumor necrosis factor, whereas interleukin 6 treatment had no effect. (PMID:16371591)
• Expression of hMafF or MIP alone did not alter basal reporter transcription activity, whereas co-expression of hMafF and MIP activated transcription efficiently. (PMID:16549056)
• Only in the presence of both MIP and hMafF could the nUS2-pLacZi reporter in yeast genome be activated. (PMID:19723544)
• MAF genes have different levels of biological and genetic relevance. Besides, MAFF and MAFG could be associated with the susceptibility to develop CML. (PMID:24118457)
• These results suggest that MAFB and MAFF play critical roles in the antitumor effects of retinoids by regulating the expression of retinoid target genes such as TFPI2 and can be promising for developing therapies to combat HCC invasion. (PMID:29757260)
• CXCL1 and CSF3 levels are controlled by MAFF in myometrial cells. (PMID:30669188)
• Alternative splicing related genetic variants contribute to bladder cancer risk. (PMID:32339354)
• Responsive Expression of MafF to beta-Amyloid-Induced Oxidative Stress. (PMID:33488846)
• Transcription Factor MAFF (MAF Basic Leucine Zipper Transcription Factor F) Regulates an Atherosclerosis Relevant Network Connecting Inflammation and Cholesterol Metabolism. (PMID:33626882)
• MafF Is an Antiviral Host Factor That Suppresses Transcription from Hepatitis B Virus Core Promoter. (PMID:33980595)
• The HIF target MAFF promotes tumor invasion and metastasis through IL11 and STAT3 signaling. (PMID:34262028)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	maff	ENSDARG00000028957
mus_musculus	Maff	ENSMUSG00000042622
rattus_norvegicus	Maff	ENSRNOG00000012886
drosophila_melanogaster	tj	FBGN0000964
drosophila_melanogaster	maf-S	FBGN0034534
caenorhabditis_elegans	maf-1	WBGENE00077521

Paralogs (6): NRL (ENSG00000129535), MAF (ENSG00000178573), MAFA (ENSG00000182759), MAFG (ENSG00000197063), MAFK (ENSG00000198517), MAFB (ENSG00000204103)

Protein

Protein identifiers

Transcription factor MafF — Q9ULX9 (reviewed: Q9ULX9)

Alternative names: U-Maf, V-maf musculoaponeurotic fibrosarcoma oncogene homolog F

All UniProt accessions (3): Q9ULX9, B0QY70, B0QY71

UniProt curated annotations — full annotation on UniProt →

Function. Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves. However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2L1/NRF1, and recruiting them to specific DNA-binding sites. Interacts with the upstream promoter region of the oxytocin receptor gene. May be a transcriptional enhancer in the up-regulation of the oxytocin receptor gene at parturition.

Subunit / interactions. Monomer and homo- or heterodimer. Interacts with MIP. Forms high affinity heterodimers with members of the CNC-bZIP family such as NFE2L1/NRF1.

Subcellular location. Nucleus.

Tissue specificity. Expressed in the term myometrium and kidney.

Induction. By oxidative stress.

Similarity. Belongs to the bZIP family. Maf subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9ULX9-1	1	yes
Q9ULX9-2	2

RefSeq proteins (4): NP_001155044, NP_001155045, NP_001155046, NP_036455* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004826	bZIP_Maf	Domain
IPR004827	bZIP	Domain
IPR008917	TF_DNA-bd_sf	Homologous_superfamily
IPR024874	Transcription_factor_Maf_fam	Family
IPR046347	bZIP_sf	Homologous_superfamily

Pfam: PF03131

UniProt features (8 total): region of interest 3, chain 1, domain 1, compositionally biased region 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULX9-F1	83.37	0.63

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-983231	Factors involved in megakaryocyte development and platelet production
R-HSA-109582	Hemostasis

MSigDB gene sets: 459 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, ATF_B, MODULE_52, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, LEE_NEURAL_CREST_STEM_CELL_DN, FREAC2_01, GOBP_MUSCLE_TISSUE_DEVELOPMENT, MCLACHLAN_DENTAL_CARIES_UP, BOYAULT_LIVER_CANCER_SUBCLASS_G56_DN, AMIT_DELAYED_EARLY_GENES, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, ENK_UV_RESPONSE_KERATINOCYTE_UP, TTTGTAG_MIR520D, MENSE_HYPOXIA_UP

GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), in utero embryonic development (GO:0001701), regulation of transcription by RNA polymerase II (GO:0006357), parturition (GO:0007567), skeletal muscle cell differentiation (GO:0035914), regulation of epidermal cell differentiation (GO:0045604), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), RNA polymerase II transcription regulator complex (GO:0090575)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of DNA-templated transcription	2
cellular anatomical structure	2
intracellular membrane-bounded organelle	2
negative regulation of DNA-templated transcription	1
chordate embryonic development	1
multi-organism reproductive process	1
multi-multicellular organism process	1
skeletal muscle tissue development	1
cell differentiation	1
epidermal cell differentiation	1
regulation of epithelial cell differentiation	1
regulation of epidermis development	1
positive regulation of DNA-templated transcription	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
DNA binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
binding	1
chromosome	1
nuclear lumen	1
cytoplasm	1
transcription regulator complex	1
nuclear protein-containing complex	1

Protein interactions and networks

STRING

798 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAFF	NFE2L2	Q16236	947
MAFF	NFE2	Q16621	933
MAFF	NFE2L1	Q14494	885
MAFF	BACH2	Q9BYV9	873
MAFF	MAFK	O60675	775
MAFF	HHAT	Q5VTY9	771
MAFF	MAFG	O15525	770
MAFF	FOS	P01100	760
MAFF	BACH1	O14867	727
MAFF	OXTR	P30559	688
MAFF	ATF3	P18847	661
MAFF	JUN	P05412	643
MAFF	NEIL1	Q96FI4	583
MAFF	USH2A	O75445	552
MAFF	KEAP1	Q14145	531

IntAct

54 interactions, top by confidence:

A	B	Type	Score
NFE2L2	MAFG	psi-mi:“MI:0914”(association)	0.940
MIS12	ZWINT	psi-mi:“MI:0914”(association)	0.900
BACH1	MAFG	psi-mi:“MI:0914”(association)	0.870
BACH1	MAFF	psi-mi:“MI:0407”(direct interaction)	0.810
MAFF	BACH1	psi-mi:“MI:0407”(direct interaction)	0.810
NFE2L2	MAFF	psi-mi:“MI:0915”(physical association)	0.770
MAFF	NFE2L2	psi-mi:“MI:0407”(direct interaction)	0.770
NFE2L3	MAFF	psi-mi:“MI:0407”(direct interaction)	0.690
BACH2	MAFF	psi-mi:“MI:0407”(direct interaction)	0.690
MAFF	NFE2L3	psi-mi:“MI:0407”(direct interaction)	0.690
MAFF	BACH2	psi-mi:“MI:0407”(direct interaction)	0.690
NFE2L1	MAFF	psi-mi:“MI:0407”(direct interaction)	0.590
MAFF	NFE2L1	psi-mi:“MI:0407”(direct interaction)	0.590
MAFF	NFE2L1	psi-mi:“MI:0914”(association)	0.590
DEUP1	HIP1	psi-mi:“MI:0914”(association)	0.530
MAFF	GAPDHS	psi-mi:“MI:0914”(association)	0.530
MAFF	NFIL3	psi-mi:“MI:0407”(direct interaction)	0.440
FOS	MAFF	psi-mi:“MI:0407”(direct interaction)	0.440
MAFF	ATF3	psi-mi:“MI:0407”(direct interaction)	0.440
MAFF	BATF2	psi-mi:“MI:0407”(direct interaction)	0.440
ATF3	MAFF	psi-mi:“MI:0407”(direct interaction)	0.440
MAFF	BATF3	psi-mi:“MI:0407”(direct interaction)	0.440
MAFF	MAFF	psi-mi:“MI:0407”(direct interaction)	0.440
MAFG	MAFF	psi-mi:“MI:0407”(direct interaction)	0.440
MAFF	MAFG	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (103): MAFF (Affinity Capture-MS), SUPT16H (Affinity Capture-MS), CCDC6 (Affinity Capture-MS), LDOC1L (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), NFE2L2 (Affinity Capture-MS), CALCOCO1 (Affinity Capture-MS), BACH2 (Affinity Capture-MS), BACH1 (Affinity Capture-MS), NEK9 (Affinity Capture-MS), MIS12 (Affinity Capture-MS), NFE2L1 (Affinity Capture-MS), NFE2L3 (Affinity Capture-MS), GIT1 (Affinity Capture-MS), GIT2 (Affinity Capture-MS)

ESM2 similar proteins: A1L188, A2AMZ4, A2XK00, A7YY73, B4FGS2, B4FTR7, B8B624, C0HAV3, C5E268, G2TRP6, O13973, O75012, O95159, O95872, Q0VDN7, Q12894, Q28H71, Q2YDD3, Q3SZA2, Q3SZW4, Q3U0S6, Q3UJV1, Q49AH0, Q4G012, Q5FVV3, Q5U509, Q5U651, Q61858, Q6ASS9, Q6P0I6, Q756Q5, Q7S4Y4, Q7XAM0, Q7XK12, Q8BGD8, Q8BGX2, Q8CC36, Q8VED2, Q96BP2, Q96C34

Diamond homologs: A3KMR8, A5PJV0, A7YY73, A7Z017, D3ZNT6, O15525, O42290, O54790, O54791, O57342, O60675, O75444, P23091, P54841, P54842, P54843, P54844, P54845, P54846, Q0V9K1, Q2PFS4, Q4U1U2, Q504L8, Q61827, Q6DE84, Q76MX4, Q789F3, Q8CF90, Q8NHW3, Q90370, Q90595, Q90596, Q90888, Q90889, Q98UK4, Q98UK5, Q9ULX9, Q9Y5Q3

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
HOXD12	“down-regulates activity”	MAFF	binding
PRRX1	“down-regulates activity”	MAFF	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 33 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:

Pathway	Partners	Fold	FDR
Cellular responses to stress	5	9.7×	4e-03
Cellular responses to stimuli	5	8.3×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
integrated stress response signaling	7	158.6×	5e-12

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

885 predictions. Top by Δscore:

Variant	Effect	Δscore
22:38214416:GCAGA:G	acceptor_loss	1.0000
22:38214417:CAGAT:C	acceptor_loss	1.0000
22:38214419:G:GT	acceptor_loss	1.0000
22:38202209:GCGG:G	donor_gain	0.9900
22:38213821:A:AG	acceptor_gain	0.9900
22:38213821:AGGTC:A	acceptor_loss	0.9900
22:38213822:G:GA	acceptor_loss	0.9900
22:38213822:G:GG	acceptor_gain	0.9900
22:38213885:TAAAG:T	donor_loss	0.9900
22:38213886:AAAGG:A	donor_loss	0.9900
22:38213888:AGG:A	donor_loss	0.9900
22:38213889:GGTG:G	donor_loss	0.9900
22:38213890:G:GA	donor_loss	0.9900
22:38213891:T:A	donor_loss	0.9900
22:38214418:A:AG	acceptor_gain	0.9900
22:38214419:G:GA	acceptor_gain	0.9900
22:38214419:GATC:G	acceptor_gain	0.9900
22:38214419:GATCA:G	acceptor_gain	0.9900
22:38202210:CGG:C	donor_loss	0.9800
22:38202213:G:GA	donor_loss	0.9800
22:38202214:TGA:T	donor_loss	0.9800
22:38202215:G:GG	donor_loss	0.9800
22:38202219:A:T	donor_gain	0.9800
22:38213822:GGTCT:G	acceptor_gain	0.9800
22:38214419:GA:G	acceptor_gain	0.9800
22:38214419:GAT:G	acceptor_gain	0.9800
22:38202235:G:GT	donor_gain	0.9700
22:38205497:G:GT	donor_gain	0.9700
22:38205685:G:GA	donor_gain	0.9700
22:38208569:C:G	donor_gain	0.9700

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000073683 (22:38201968 G>C,T), RS1000203848 (22:38211328 G>A), RS1000417023 (22:38201815 C>A,T), RS1000593906 (22:38212698 G>A), RS1000659085 (22:38211085 C>T), RS1000828812 (22:38209256 G>A,C), RS1001030434 (22:38202912 C>G,T), RS1001249303 (22:38202276 C>G), RS1001260673 (22:38209627 A>G), RS1001356624 (22:38200887 G>A), RS1001608759 (22:38209977 C>T), RS1001655403 (22:38214905 C>G), RS1001656220 (22:38202484 C>A,G), RS1002653081 (22:38216313 T>G), RS1002718934 (22:38209621 T>C)

Disease associations

OMIM: gene MIM:604877 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

34 associations (top):

Study	Trait	p-value
GCST006611_146	HDL cholesterol	1.000000e-16
GCST006613_105	Triglycerides	2.000000e-22
GCST007876_59	Estimated glomerular filtration rate	3.000000e-10
GCST008058_65	Estimated glomerular filtration rate	1.000000e-25
GCST008059_77	Estimated glomerular filtration rate	5.000000e-21
GCST008074_141	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	4.000000e-13
GCST008074_51	Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	5.000000e-08
GCST008075_184	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	2.000000e-09
GCST008075_62	HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)	5.000000e-11
GCST008076_38	Triglyceride levels	1.000000e-09
GCST008083_15	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	4.000000e-09
GCST008083_90	Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	8.000000e-15
GCST008084_160	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	2.000000e-09
GCST008084_76	HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)	1.000000e-11
GCST008085_179	HDL cholesterol levels in current drinkers	5.000000e-07
GCST008085_96	HDL cholesterol levels in current drinkers	1.000000e-07
GCST008087_110	Triglyceride levels in current drinkers	7.000000e-06
GCST008087_18	Triglyceride levels in current drinkers	8.000000e-11
GCST008362_73	Birth weight	8.000000e-09
GCST008745_31	Estimated glomerular filtration rate in non-diabetics	5.000000e-12
GCST008747_133	Estimated glomerular filtration rate	2.000000e-14
GCST008747_34	Estimated glomerular filtration rate	5.000000e-11
GCST008839_178	Height	6.000000e-09
GCST010002_82	Refractive error	2.000000e-13
GCST010173_28	Triglyceride levels	8.000000e-18
GCST011685_4	Fasting plasma glucose	9.000000e-07
GCST012226_155	Waist circumference adjusted for body mass index	3.000000e-10
GCST90002384_504	Hemoglobin	7.000000e-10
GCST90002385_582	High light scatter reticulocyte count	1.000000e-09
GCST90002403_703	Red blood cell count	1.000000e-10

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0004329	alcohol drinking
EFO:0004344	birth weight
EFO:0007789	BMI-adjusted waist circumference
EFO:0004509	hemoglobin measurement
EFO:0007986	reticulocyte count
EFO:0004305	erythrocyte count
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	6
Benzo(a)pyrene	increases expression, increases methylation	6
Estradiol	affects cotreatment, increases expression, decreases reaction, decreases expression	6
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, affects expression, decreases expression	6
Tobacco Smoke Pollution	affects expression, increases expression	6
Cyclosporine	affects cotreatment, affects expression, increases expression	6
Particulate Matter	increases expression, decreases expression, affects cotreatment, increases abundance	6
methylmercuric chloride	increases expression, affects cotreatment	4
bisphenol A	affects expression, decreases expression, affects cotreatment	4
Air Pollutants	increases abundance, increases expression, decreases expression, affects expression	4
trichostatin A	affects cotreatment, increases expression	3
Acetaminophen	increases expression, affects cotreatment	3
Aflatoxin B1	affects expression, increases expression, increases methylation	3
diethyl maleate	increases expression	2
arsenite	decreases reaction, affects expression, increases expression	2
cobaltous chloride	increases expression, decreases reaction	2
perfluorooctanoic acid	increases expression	2
nickel sulfate	increases expression	2
isoeugenol	increases expression	2
Arsenic Trioxide	increases expression	2
Aerosols	increases expression	2
Cadmium	increases expression	2
Chenodeoxycholic Acid	affects cotreatment, increases expression, decreases expression	2
Copper	increases expression, affects binding	2
Deoxycholic Acid	affects cotreatment, increases expression, decreases expression	2
Dinitrochlorobenzene	increases expression	2
Ethinyl Estradiol	affects expression	2
Formaldehyde	increases expression	2
Glycochenodeoxycholic Acid	affects cotreatment, increases expression, decreases expression	2
Glycocholic Acid	affects cotreatment, increases expression, decreases expression	2

Clinical trials (associated diseases)

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