MAF

Summary

MAF (MAF bZIP transcription factor, HGNC:6776) is a protein-coding gene on chromosome 16q23.2, encoding Transcription factor Maf (O75444). Acts as a transcriptional activator or repressor.

The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 4094 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Ayme-Gripp syndrome (Definitive, GenCC) — +5 more curated relationships
• GWAS associations: 47
• Clinical variants (ClinVar): 460 total — 19 pathogenic, 18 likely-pathogenic
• Phenotypes (HPO): 96
• Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
• Transcription factor: yes — 75 downstream targets (CollecTRI)
• MANE Select transcript: NM_005360

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6776
Approved symbol	MAF
Name	MAF bZIP transcription factor
Location	16q23.2
Locus type	gene with protein product
Status	Approved
Aliases	c-MAF
Ensembl gene	ENSG00000178573
Ensembl biotype	protein_coding
OMIM	177075
Entrez	4094

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000326043, ENST00000393350, ENST00000569649

RefSeq mRNA: 2 — MANE Select: NM_005360 NM_001031804, NM_005360

CCDS: CCDS10928, CCDS42198

Canonical transcript exons

ENST00000326043 — 2 exons

Exon	Start	End
ENSE00001248637	79593838	79594553
ENSE00001248647	79598785	79600737

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 99.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.6807 / max 756.0765, expressed in 1348 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158233	12.4254	1217
158232	4.6695	878
158228	3.4313	894
158231	0.7810	336
158230	0.4016	185
158229	0.2285	129
158227	0.2249	112
158225	0.1889	83
158224	0.1785	82
158226	0.0873	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	99.59	gold quality
germinal epithelium of ovary	UBERON:0001304	99.09	gold quality
gingiva	UBERON:0001828	98.99	gold quality
gingival epithelium	UBERON:0001949	98.91	gold quality
esophagus squamous epithelium	UBERON:0006920	98.78	gold quality
trigeminal ganglion	UBERON:0001675	98.73	gold quality
skin of hip	UBERON:0001554	98.40	gold quality
parietal pleura	UBERON:0002400	98.32	gold quality
penis	UBERON:0000989	98.22	gold quality
jejunum	UBERON:0002115	98.17	gold quality
periodontal ligament	UBERON:0008266	98.15	gold quality
dorsal root ganglion	UBERON:0000044	97.85	gold quality
mammalian vulva	UBERON:0000997	97.85	gold quality
upper leg skin	UBERON:0004262	97.75	gold quality
superficial temporal artery	UBERON:0001614	97.72	gold quality
oral cavity	UBERON:0000167	97.71	gold quality
squamous epithelium	UBERON:0006914	97.66	gold quality
pleura	UBERON:0000977	97.62	gold quality
pericardium	UBERON:0002407	97.47	gold quality
tongue squamous epithelium	UBERON:0006919	97.40	gold quality
synovial joint	UBERON:0002217	97.32	gold quality
epithelium of esophagus	UBERON:0001976	97.29	gold quality
upper arm skin	UBERON:0004263	97.11	gold quality
nephron tubule	UBERON:0001231	97.06	gold quality
duodenum	UBERON:0002114	97.01	gold quality
palpebral conjunctiva	UBERON:0001812	96.88	gold quality
urethra	UBERON:0000057	96.85	gold quality
vastus lateralis	UBERON:0001379	96.69	gold quality
visceral pleura	UBERON:0002401	96.66	gold quality
biceps brachii	UBERON:0001507	96.50	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-GEOD-98556	yes	905.97
E-MTAB-10662	yes	450.86
E-GEOD-75140	yes	441.10
E-MTAB-8205	yes	284.92
E-HCAD-10	yes	62.37
E-MTAB-6701	yes	53.39
E-HCAD-9	yes	19.89
E-CURD-112	yes	17.95
E-ANND-3	yes	14.93
E-CURD-46	yes	14.25
E-MTAB-6678	yes	11.12
E-MTAB-9067	yes	8.61
E-MTAB-8271	no	522.74

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

75 targets.

Target	Regulation
ADAM2
ADGRE1
ADIPOQ
ANPEP	Unknown
AP1
BCL2	Repression
BDKRB2
BTK
CARD11
CASP6
CCN2	Unknown
CCND2	Unknown
CCR1	Activation
CCR4
CD2
CD4	Activation
CD8A	Activation
CDKN1B
CNTN2
COL11A2
COL27A1
COL2A1	Activation
CREBBP
CRYAA	Unknown
CRYAB	Activation
CRYBB2
CRYGD
CS
CSF2	Activation
CSN1S2AP

JASPAR motifs

Motif	Name	Family
MA0501.1	MAF::NFE2	Maf-related::Jun-related
MA0501.2	MAF::NFE2	Maf-related::Jun-related
MA1520.1	MAF	Maf-related
MA1520.2	MAF	Maf-related

JASPAR matrix evidence (PMIDs): PMID:9166829, PMID:9571165

Upstream regulators (CollecTRI, top): BATF, FOS, FOXC1, GATA3, MAF, MAFB, MAFG, MYOD1, NFE2L2, NFKB1, NFKB, PAX6, PPARG, RELA, SATB1, STAT3, STAT5A, STAT5B, TP53

miRNA regulators (miRDB)

251 targeting MAF, 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-6867-5P	100.00	82.21	3464
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562

Literature-anchored findings (GeneRIF, showing 40)

• results suggest that Tc-mip plays a critical role in Th2 signaling pathway and represents the first proximal signaling protein which links TCR-mediated signal to the activation of c-maf Th2 specific factor (PMID:12939343)
• The short form of the proto-oncogene c-maf is highly induced in minimal change nephrotic syndrome T cells during relapse, where it translocates to the nuclear compartment and binds to the DNA responsive element. (PMID:14688382)
• High levels of c-maf mRNA is associated with multiple myeloma (PMID:14692531)
• c-maf transforms plasma cells by stimulating cell cycle progression and by altering bone marrow stromal interactions (PMID:14998494)
• role of c-Maf in the transcriptional regulation of IL-10 and the underlying molecular mechanism in macrophages (PMID:15749884)
• results suggest that c-Maf might cause a type of T-cell lymphoma in both mice and humans and that ARK5, in addition to cyclin D2 and integrin beta(7), might be downstream target genes of c-Maf leading to malignant transformation (PMID:16424013)
• Findings expand the mutation spectrum of MAF in association with congenital cataract and highlight the genetic and phenotypic heterogeneity of congenital cataract. (PMID:16470690)
• Segmental allergen challenge in asthmatics leads to increased GATA-3, c-maf and T-bet expression in BAL cells but not in bronchial biopsies (PMID:16498264)
• OPN is significantly upregulated in MM patients with maf translocations, particularly in the fraction lacking bone disease (PMID:17044113)
• Taken together, these data establish beta7 ITG as a new molecular target of PAHs, whose up-regulation by these environmental contaminants most likely requires activation of co-operative pathways involving both AhR and c-maf. (PMID:17490615)
• c-Maf is capable of interactions with c-Myb that lead to reduced promoter binding and decreased Bcl-2 expression, rendering CD4 T cells more prone to apoptosis. (PMID:17823980)
• the differential DNA binding specificity between Maf homodimers and Nrf2-Maf heterodimers establishes the differential gene regulation by these dimer-forming transcription factors (PMID:17875642)
• CD13 transcription is regulatd by MAF via an atypical response element. (PMID:17897790)
• Pax-6 and c-Maf interact with G1 to activate basal expression of the glucagon gene (PMID:17901057)
• MAF mutation p.Arg299Ser is the third mutation identified in association with the CCMC phenotype, and all three mutations are located in the basic region of the DNA binding domain in the MAF protein (OMIM 177075). (PMID:17982426)
• Angioimmunoblastic T-cell lymphoma(AILT) shows c-Maf expression and provide new insight into the pathogenesis of AILT suggesting c-Maf to be a useful diagnostic marker. (PMID:18059226)
• MafG-mediated nuclear retention may enable Nrf2 proteins to evade cytosolic proteasomal degradation and consequently stabilize Nrf2 signaling (PMID:18585411)
• The exclusion of these genes as likely candidates supports the hypothesis that the ocular phenotype associated with peters’ anomaly segregating in this family is a distinct, new, autosomal dominant entity in the anterior segment dysgenesis spectrum. (PMID:18616618)
• In addition to FTO and MC4R, we detected significant association of obesity with three new risk loci in NPC1 (endosomal/lysosomal Niemann-Pick C1 gene), near MAF (encoding the transcription factor c-MAF) and near PTER (phosphotriesterase-related gene). (PMID:19151714)
• c-maf may be important in chondrocyte hypertrophy and terminal differentiation, and may be involved in the pathogenesis of osteoarthritis (PMID:19215682)
• detection of c-Maf may be of particular value in the differential diagnosis of small cell lymphomas. (PMID:19687312)
• we determined the significance of loss or downregulation of CD79a, overexpression of cyclinD1, and c-maf expression in bone marrow specimens with plasma cell myeloma (PMID:19883431)
• Taken together, these studies demonstrate a new level of transcriptional regulation of MMP-13 expression by the c-maf. (PMID:20067416)
• novel role for MAF as a transcriptional repressor, preventing expression of blood vessel endothelial cells-specific genes, thereby maintaining the differentiation status of lymphatic endothelial cells (PMID:20080955)
• c-Maf interacts with Ubc9 & PIAS1. c-Maf can be SUMOylated at Lys-33 in vitro. SUMOylation attenuates its transcriptional activity. (PMID:20127678)
• the MEK-ERK pathway regulates MAF transcription (PMID:21163924)
• Monocyte-derived macrophages with CD14 of high-antigen positivity display increased expression of c-Maf, which upregulates production of two key factors (hyaluronan and interleukin-10) that promote growth of Mycobacterium tuberculosis. (PMID:21209279)
• Hepatitis C virus impairs the induction of cytoprotective Nrf2 target genes by delocalization of small Maf proteins. (PMID:21216956)
• Methionine adenosyltransferase II serves as a transcriptional corepressor of Maf oncoprotein (PMID:21362551)
• Data indicate that genetic variants near the KCNQ1 and MAF/WWOX genes are associated with reduced insulin secretion, and the PTPRD genetic variant appears to be associated with progression to diabetes in Han Chinese. (PMID:21767287)
• we studied the mechanisms underlying IL-2 regulation of C-MAF expression in human T cells (PMID:21876034)
• findings show that the transcription factor c-Maf/c-MAF is crucial for mechanosensory function; sensitivity to high-frequency vibration is reduced in humans carrying a dominant mutation in the c-MAF gene (PMID:22345400)
• Bcl6 and Maf collaborate to orchestrate a suite of genes that define core characteristics of human Tfh cell biology. (PMID:22427637)
• c-Maf increases human immunodeficiency virus (HIV)-1 expression in interleukin (IL)-4-producing CD4 T cells by binding the proximal HIV-1 long terminal repeat region (LTR) and augmenting HIV-1 transcription. (PMID:22875803)
• Results imply a regulatory role for TMEM18, BDNF, MTCH2 and NEGR1 in adipocyte differentiation and biology. In addition, we show a variation of MAF expression during adipogenesis, while NPC1, PTER and SH2B1 were not regulated. (PMID:23229156)
• All four of the genes originally identified as showing genome-wide significance (IRF6, ABCA4 and MAF, plus the 8q24 region) were confirmed in this independent sample of trios (who were primarily of European and Southeast Asian ancestry). (PMID:23512105)
• Polymorphisms rs9939609 (FTO gene) and rs1424233 (MAF gene) were genotyped using allelic discrimination assays in a prospective multicenter cohort study; these polymorphisms did not show associations with birth weight, BMI and Ponderal Index at discharge, and weight gain, neither testing for a dominant, additive nor for a recessive model. (PMID:23840443)
• MAF has a role in mediating crosstalk between Ras-MAPK and mTOR signaling in NF1 (PMID:24509877)
• LPS promotes PDCD4 degradation via a pathway involving PI3K and mTOR, releasing Twist2, which induces IL-10 via c-Maf. (PMID:24982420)
• Differential effect of cataract-associated mutations in MAF on transactivation of MAF target crystalline genes. (PMID:25064449)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	mafa	ENSDARG00000015890
danio_rerio	mafb	ENSDARG00000076520
mus_musculus	Maf	ENSMUSG00000055435
rattus_norvegicus	Maf	ENSRNOG00000012428
drosophila_melanogaster	tj	FBGN0000964
drosophila_melanogaster	maf-S	FBGN0034534
caenorhabditis_elegans	maf-1	WBGENE00077521

Paralogs (6): NRL (ENSG00000129535), MAFA (ENSG00000182759), MAFF (ENSG00000185022), MAFG (ENSG00000197063), MAFK (ENSG00000198517), MAFB (ENSG00000204103)

Protein

Protein identifiers

Transcription factor Maf — O75444 (reviewed: O75444)

Alternative names: Proto-oncogene c-Maf, V-maf musculoaponeurotic fibrosarcoma oncogene homolog

All UniProt accessions (2): O75444, H3BP11

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone development. Binds to the sequence 5’-[GT]G[GC]N[GT]NCTCAGNN-3’ in the L7 promoter. Binds to the T-MARE (Maf response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13 proximal promoter in endothelial cells. When overexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters.

Subunit / interactions. Homodimer or heterodimer with other bHLH-Zip transcription factors. Binds DNA as a homodimer or as a heterodimer. Heterotetramer of two MAF and two USF2. Interacts with PAX6; the interaction is direct. Interacts with MYB; interaction takes place weakly in normal T-cells and increases in T-cells following stimulation through the TCR engagement. Interacts with MYB; the ternary complex formed with MYB and the CD13 promoter is regulated in response to differentiating signals. Interacts with USF2; the interaction inhibits its DNA-binding activity on the L7 promoter. Interacts with CREBBP, EP300 and ETS1.

Subcellular location. Nucleus.

Tissue specificity. Expressed in endothelial cells.

Post-translational modifications. Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by glucocorticoids. Phosphorylated by GSK3 and MAPK13 on serine and threonine residues. The phosphorylation status can serve to either stimulate or inhibit transcription.

Disease relevance. A chromosomal aberration involving MAF is found in some forms of multiple myeloma (MM). Translocation t(14;16)(q32.3;q23) with an IgH locus. Cataract 21, multiple types (CTRCT21) [MIM:610202] An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT21 includes cerulean and pulverulent cataracts. Cerulean cataracts are characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Pulverulent cataracts are characterized by a dust-like, ‘pulverised’ appearance of the opacities which can be found in any part of the lens. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. The disease is caused by variants affecting the gene represented in this entry. Ayme-Gripp syndrome (AYGRP) [MIM:601088] A multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth. The disease is caused by variants affecting the gene represented in this entry.

Induction. Up-regulated with tert-butyl hydroquinone (t-BHQ).

Similarity. Belongs to the bZIP family. Maf subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
O75444-2	2, Short	yes
O75444-1	1, Long

RefSeq proteins (2): NP_001026974, NP_005351* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004826	bZIP_Maf	Domain
IPR004827	bZIP	Domain
IPR008917	TF_DNA-bd_sf	Homologous_superfamily
IPR013592	Maf_TF_N	Domain
IPR024874	Transcription_factor_Maf_fam	Family
IPR046347	bZIP_sf	Homologous_superfamily

Pfam: PF03131, PF08383

UniProt features (30 total): sequence variant 12, region of interest 6, compositionally biased region 5, cross-link 4, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75444-F1	62.21	0.29

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 (4): 29, 33, 331, 379

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-8940973	RUNX2 regulates osteoblast differentiation
R-HSA-9976102	Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)
R-HSA-212436	Generic Transcription Pathway
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8878166	Transcriptional regulation by RUNX2
R-HSA-8941326	RUNX2 regulates bone development

MSigDB gene sets: 682 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, MYAATNNNNNNNGGC_UNKNOWN, GOBP_LENS_FIBER_CELL_DIFFERENTIATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, HNF3ALPHA_Q6, PAX4_01, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CARTILAGE_DEVELOPMENT, JAEGER_METASTASIS_DN, PEREZ_TP63_TARGETS, GOZGIT_ESR1_TARGETS_DN, CREBP1_Q2

GO Biological Process (16): 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), transcription by RNA polymerase II (GO:0006366), response to nutrient (GO:0007584), positive regulation of gene expression (GO:0010628), megakaryocyte differentiation (GO:0030219), regulation of chondrocyte differentiation (GO:0032330), inner ear development (GO:0048839), lens fiber cell differentiation (GO:0070306), integrated stress response signaling (GO:0140467), lens development in camera-type eye (GO:0002088), regulation of DNA-templated transcription (GO:0006355), gene expression (GO:0010467), positive regulation of transcription by RNA polymerase II (GO:0045944), cell development (GO:0048468)

GO Molecular Function (9): 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), identical protein binding (GO:0042802), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737), RNA polymerase II transcription regulator complex (GO:0090575)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
RUNX2 regulates bone development	1
Differentiation of T cells	1
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1
Generic Transcription Pathway	1
Transcriptional regulation by RUNX2	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
anatomical structure development	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of DNA-templated transcription	2
DNA-templated transcription	2
regulation of gene expression	2
cellular anatomical structure	2
negative regulation of DNA-templated transcription	1
chordate embryonic development	1
response to nutrient levels	1
response to chemical	1
gene expression	1
positive regulation of macromolecule biosynthetic process	1
myeloid cell differentiation	1
chondrocyte differentiation	1
regulation of cell differentiation	1
regulation of cartilage development	1
ear development	1
lens development in camera-type eye	1
epithelial cell differentiation	1
cellular response to stress	1
intracellular signaling cassette	1
camera-type eye development	1
regulation of RNA biosynthetic process	1
macromolecule biosynthetic process	1
positive regulation of DNA-templated transcription	1
cell differentiation	1
cellular developmental 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
protein binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
transcription cis-regulatory region binding	1

Protein interactions and networks

STRING

4013 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAF	NFE2L2	Q16236	997
MAF	FOS	P01100	995
MAF	BACH2	Q9BYV9	993
MAF	JUN	P05412	993
MAF	NFE2	Q16621	984
MAF	NFE2L1	Q14494	964
MAF	NEIL1	Q96FI4	946
MAF	PAX6	P26367	893
MAF	CREB1	P16220	892
MAF	NFE2L3	Q9Y4A8	888
MAF	KEAP1	Q14145	855
MAF	BACH1	O14867	802
MAF	BATF	Q16520	781
MAF	FOSB	P53539	774
MAF	FOSL1	P15407	750

IntAct

18 interactions, top by confidence:

A	B	Type	Score
MAF	MAFB	psi-mi:“MI:0407”(direct interaction)	0.620
MAF	ATF4	psi-mi:“MI:0407”(direct interaction)	0.620
MAF	MAF	psi-mi:“MI:0407”(direct interaction)	0.620
MAFB	MAF	psi-mi:“MI:0407”(direct interaction)	0.620
ATF4	MAF	psi-mi:“MI:0407”(direct interaction)	0.620
MAF	HBZ	psi-mi:“MI:0407”(direct interaction)	0.440
MAF	BACH1	psi-mi:“MI:0407”(direct interaction)	0.440
JUNB	MAF	psi-mi:“MI:0407”(direct interaction)	0.440
MAF	FOSL1	psi-mi:“MI:0407”(direct interaction)	0.440
MAF	AHR	psi-mi:“MI:0915”(physical association)	0.400
nusA	MAF	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (80): MAF (Two-hybrid), NFE2L2 (Affinity Capture-Western), MAF (Affinity Capture-RNA), UBE2O (Affinity Capture-MS), UBE2O (Affinity Capture-Western), MAF (Affinity Capture-Western), MAF (Biochemical Activity), USP5 (Affinity Capture-Western), MAF (Co-localization), MAF (Affinity Capture-MS), MAF (Affinity Capture-Western), EP300 (Affinity Capture-Western), CREBBP (Affinity Capture-Western), MAF (Affinity Capture-Western), USP5 (Affinity Capture-Western)

ESM2 similar proteins: A3KMR8, A7Z017, B3DM47, B4R090, D3ZNT6, O35317, O35984, O42290, O57342, O75030, O75444, P10083, P23091, P25932, P40424, P40425, P40426, P41778, P54841, P54842, P54843, P54844, P56224, P57102, P61295, P61296, P79745, P79746, Q05192, Q0V9K1, Q27350, Q2PFS4, Q32NP8, Q4U1U2, Q504L8, Q61039, Q6DE84, Q6PFG8, Q789F3, Q7RTU3

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

10 interactions.

A	Effect	B	Mechanism
GSK3A	up-regulates	MAF	phosphorylation
GSK3A	down-regulates	MAF	phosphorylation
GSK3B	up-regulates	MAF	phosphorylation
GSK3B	down-regulates	MAF	phosphorylation
MAF	“up-regulates quantity by expression”	MMP13	“transcriptional regulation”
TEC	“up-regulates activity”	MAF	phosphorylation
MAF	down-regulates	ETS1	binding
MAF	down-regulates	MYB	binding
HOXD12	“down-regulates activity”	MAF	binding
PRRX1	“down-regulates activity”	MAF	binding

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — PCM.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	19
Likely pathogenic	18
Uncertain significance	210
Likely benign	137
Benign	35

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
13231	NM_005360.5(MAF):c.863G>C (p.Arg288Pro)	Pathogenic
13232	NM_005360.5(MAF):c.890A>G (p.Lys297Arg)	Pathogenic
1329854	NM_016373.4(WWOX):c.1171G>T (p.Glu391Ter)	Pathogenic
1381570	NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter)	Pathogenic
162512	NM_005360.5(MAF):c.161C>T (p.Ser54Leu)	Pathogenic
162513	NM_005360.5(MAF):c.172A>G (p.Thr58Ala)	Pathogenic
162514	NM_005360.5(MAF):c.173C>T (p.Thr58Ile)	Pathogenic
162516	NM_005360.5(MAF):c.176C>T (p.Pro59Leu)	Pathogenic
162517	NM_005360.5(MAF):c.185C>G (p.Thr62Arg)	Pathogenic
1700190	NM_016373.4(WWOX):c.1129AAC[1] (p.Asn378del)	Pathogenic
2426299	NC_000016.9:g.(?78133676)(79633799_?)del	Pathogenic
3359105	NM_005360.5(MAF):c.197C>T (p.Ser66Leu)	Pathogenic
3364712	NM_005360.5(MAF):c.892A>T (p.Asn298Tyr)	Pathogenic
452100	NM_005360.5(MAF):c.208dup (p.Ser70fs)	Pathogenic
4784054	NM_005360.5(MAF):c.-7_701del (p.Met1_Gly234del)	Pathogenic
541764	NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs)	Pathogenic
657908	NC_000016.10:g.(?79211588)(79211816_?)del	Pathogenic
664291	NM_005360.5(MAF):c.881G>A (p.Arg294Gln)	Pathogenic
830955	NC_000016.10:g.(?79594440)(79599922_?)del	Pathogenic
1320073	NM_005360.5(MAF):c.185C>T (p.Thr62Met)	Likely pathogenic
1334431	NM_016373.4(WWOX):c.1063G>C (p.Gly355Arg)	Likely pathogenic
162515	NM_005360.5(MAF):c.176C>A (p.Pro59His)	Likely pathogenic
162518	NM_005360.5(MAF):c.206C>G (p.Pro69Arg)	Likely pathogenic
1879342	NM_005360.5(MAF):c.914G>T (p.Cys305Phe)	Likely pathogenic
190235	NM_005360.5(MAF):c.895C>A (p.Arg299Ser)	Likely pathogenic
190236	NM_005360.5(MAF):c.908A>C (p.Gln303Pro)	Likely pathogenic
217325	NM_005360.5(MAF):c.819G>C (p.Glu273Asp)	Likely pathogenic
217341	NM_005360.5(MAF):c.915C>T (p.Cys305=)	Likely pathogenic
217344	NM_005360.5(MAF):c.880C>T (p.Arg294Trp)	Likely pathogenic
2574628	NM_005360.5(MAF):c.871C>G (p.Gln291Glu)	Likely pathogenic

SpliceAI

320 predictions. Top by Δscore:

Variant	Effect	Δscore
16:79594554:C:CC	acceptor_gain	0.9800
16:79598783:A:AC	donor_gain	0.9800
16:79598784:C:CC	donor_gain	0.9800
16:79594560:T:TC	acceptor_gain	0.9700
16:79594549:CAGTT:C	acceptor_gain	0.9600
16:79597746:C:CT	acceptor_gain	0.9600
16:79597747:A:T	acceptor_gain	0.9400
16:79597746:C:T	acceptor_gain	0.9100
16:79594560:T:C	acceptor_gain	0.9000
16:79598777:AGACT:A	donor_loss	0.9000
16:79598778:GACTC:G	donor_loss	0.9000
16:79598779:ACT:A	donor_loss	0.9000
16:79598780:CTCA:C	donor_loss	0.9000
16:79598781:T:TT	donor_loss	0.9000
16:79598782:C:CG	donor_loss	0.9000
16:79598783:ACA:A	donor_loss	0.9000
16:79598784:C:CA	donor_loss	0.9000
16:79598452:G:C	acceptor_gain	0.8900
16:79598452:G:GC	acceptor_gain	0.8900
16:79600157:T:TA	donor_gain	0.8800
16:79594551:GTTC:G	acceptor_loss	0.8600
16:79594553:TCTGT:T	acceptor_loss	0.8600
16:79594554:C:CA	acceptor_loss	0.8600
16:79594555:T:A	acceptor_loss	0.8600
16:79594551:GTT:G	acceptor_gain	0.8500
16:79600173:T:TA	donor_gain	0.8400
16:79594552:TT:T	acceptor_gain	0.8100
16:79598454:G:C	acceptor_gain	0.7900
16:79600170:G:A	donor_gain	0.7900
16:79600137:C:CA	donor_gain	0.7700

AlphaMissense

2627 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:79598873:A:C	Y344D	1.000
16:79598876:C:G	A343P	1.000
16:79598880:C:A	R341S	1.000
16:79598880:C:G	R341S	1.000
16:79598893:A:G	L337P	1.000
16:79598914:A:G	L330P	1.000
16:79598935:A:G	L323P	1.000
16:79598956:A:G	L316P	1.000
16:79598956:A:T	L316Q	1.000
16:79598964:T:A	R313S	1.000
16:79598964:T:G	R313S	1.000
16:79598968:T:G	Q312P	1.000
16:79598971:T:G	Q311P	1.000
16:79598976:C:A	R309S	1.000
16:79598976:C:G	R309S	1.000
16:79598977:C:A	R309M	1.000
16:79598977:C:G	R309T	1.000
16:79598978:T:A	R309W	1.000
16:79598979:C:A	K308N	1.000
16:79598979:C:G	K308N	1.000
16:79598980:T:A	K308M	1.000
16:79598981:T:C	K308E	1.000
16:79598986:C:A	R306L	1.000
16:79598986:C:G	R306P	1.000
16:79598986:C:T	R306H	1.000
16:79598987:G:A	R306C	1.000
16:79598987:G:C	R306G	1.000
16:79598987:G:T	R306S	1.000
16:79598988:G:C	C305W	1.000
16:79598989:C:A	C305F	1.000

dbSNP variants (sampled 300 via entrez): RS1000001074 (16:79476569 A>C), RS1000008444 (16:79255302 C>G), RS1000018585 (16:79427777 G>A), RS1000028828 (16:79548961 C>G,T), RS1000032429 (16:79508926 G>C), RS1000034906 (16:79456420 T>C), RS1000035259 (16:79322490 T>C), RS1000035365 (16:79476753 A>G), RS1000038103 (16:79422340 T>A,G), RS1000040157 (16:79231101 A>G), RS1000043138 (16:79526432 T>C,G), RS1000045747 (16:79501988 A>C,T), RS1000065789 (16:79251494 T>G), RS1000070392 (16:79222071 C>T), RS1000070834 (16:79427633 T>C)

Disease associations

OMIM: gene MIM:177075 | disease phenotypes: MIM:308350, MIM:614322, MIM:616211, MIM:601088, MIM:610202, MIM:135100, MIM:133239, MIM:117100

GenCC curated gene-disease

Disease	Classification	Inheritance
Ayme-Gripp syndrome	Definitive	Autosomal dominant
cataract 21 multiple types	Definitive	Autosomal dominant
Fine-Lubinsky syndrome	Supportive	Autosomal recessive
cataract - microcornea syndrome	Supportive	Autosomal dominant
pulverulent cataract	Supportive	Autosomal dominant
cerulean cataract	Supportive	Autosomal dominant

Mondo (13): developmental and epileptic encephalopathy, 1 (MONDO:0010632), autosomal recessive spinocerebellar ataxia 12 (MONDO:0013687), developmental and epileptic encephalopathy, 28 (MONDO:0014533), Ayme-Gripp syndrome (MONDO:0010992), cataract 21 multiple types (MONDO:0012437), fibrodysplasia ossificans progressiva (MONDO:0007606), esophageal cancer (MONDO:0007576), intellectual disability (MONDO:0001071), self-limited epilepsy with centrotemporal spikes (MONDO:0007295), Fine-Lubinsky syndrome (MONDO:0011049), cataract - microcornea syndrome (MONDO:0015300), pulverulent cataract (MONDO:0011430), cerulean cataract (MONDO:0020374)

Orphanet (8): Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency (Orphanet:284282), Non-specific early-onset epileptic encephalopathy (Orphanet:442835), Early onset non-syndromic cataract (Orphanet:91492), Fibrodysplasia ossificans progressiva (Orphanet:337), Squamous cell carcinoma of the esophagus (Orphanet:99977), Self-limited epilepsy with centrotemporal spikes (Orphanet:1945), OBSOLETE: AymÚ-Gripp syndrome (Orphanet:477668), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

96 total (30 of 96 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000093	Proteinuria
HP:0000160	Narrow mouth
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000219	Thin upper lip vermilion
HP:0000238	Hydrocephalus
HP:0000239	Large fontanelles
HP:0000248	Brachycephaly
HP:0000270	Delayed cranial suture closure
HP:0000272	Malar flattening
HP:0000289	Broad philtrum
HP:0000303	Mandibular prognathia
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000343	Long philtrum
HP:0000348	High forehead
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000402	Stenosis of the external auditory canal
HP:0000407	Sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000482	Microcornea
HP:0000485	Megalocornea
HP:0000494	Downslanted palpebral fissures
HP:0000501	Glaucoma
HP:0000505	Visual impairment

GWAS associations

47 associations (top):

Study	Trait	p-value
GCST000317_5	Obesity	4.000000e-13
GCST000317_6	Obesity	2.000000e-06
GCST000317_7	Obesity	2.000000e-08
GCST000744_1	Height	5.000000e-06
GCST001069_3	Thyroid volume	4.000000e-10
GCST001069_7	Thyroid volume	9.000000e-15
GCST001198_48	Multiple sclerosis	4.000000e-06
GCST001487_4	Thyroid function	6.000000e-10
GCST001608_1	Renal function-related traits (urate)	1.000000e-09
GCST001791_1	Urate levels	2.000000e-09
GCST001856_25	Thyroid hormone levels	6.000000e-17
GCST001856_31	Thyroid hormone levels	8.000000e-18
GCST002458_4	Serum thyroid-stimulating hormone levels	2.000000e-06
GCST002755_1	Depressive symptoms (SSRI exposure interaction)	2.000000e-08
GCST003485_15	Response to fenofibrate (HDL cholesterol levels)	3.000000e-07
GCST005352_5	Paclitaxel disposition in epithelial ovarian cancer	5.000000e-06
GCST005531_14	Multiple sclerosis	1.000000e-10
GCST006016_27	Serum alkaline phosphatase levels	2.000000e-11
GCST006291_50	Spherical equivalent or myopia (age of diagnosis)	2.000000e-11
GCST006976_77	Macular thickness	2.000000e-09
GCST007511_11	Alzheimer’s disease (late onset)	4.000000e-08
GCST007552_1	Colorectal cancer	2.000000e-09
GCST007725_16	Serum uric acid levels	4.000000e-15
GCST007733_15	Serum uric acid levels	3.000000e-08
GCST007733_46	Serum uric acid levels	9.000000e-15
GCST007876_124	Estimated glomerular filtration rate	2.000000e-10
GCST008165_13	Thyroid stimulating hormone levels	6.000000e-20
GCST008925_13	Lysophosphatidylcholine levels	3.000000e-08
GCST008925_8	Lysophosphatidylcholine levels	1.000000e-09
GCST008925_9	Lysophosphatidylcholine levels	2.000000e-08

EFO canonical traits (18, from GWAS)

EFO ID	Trait name
EFO:0004296	thyroid function
EFO:0004761	uric acid measurement
EFO:0004531	urate measurement
EFO:0004730	hormone measurement
EFO:0007006	depressive symptom measurement
EFO:0007010	drug use measurement
EFO:0007011	SSRI use measurement
EFO:0007805	HDL cholesterol change measurement
EFO:0004533	alkaline phosphatase measurement
EFO:0004847	age at onset
EFO:1001870	late-onset Alzheimers disease
EFO:0010224	lysophosphatidylcholine measurement
EFO:0010365	lysophosphatidylcholine 22:6 measurement
EFO:0004615	apolipoprotein B measurement
EFO:0004530	triglyceride measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0600003	vitamin C measurement
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C538287	Cataract microcornea syndrome (supp.)
C565133	Cataract, Coppock-Like (supp.)
C565703	Cataract, Pulverulent, Juvenile-Onset (supp.)
C563390	Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (supp.)
C537955	Cerulean cataract (supp.)
C537933	Fine-Lubinsky syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs4888024	MAF	3	2.75	1	methotrexate

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	6
Tobacco Smoke Pollution	decreases expression, increases expression	3
Metribolone	decreases reaction, increases expression	3
Acetaminophen	increases expression, affects cotreatment	2
Aerosols	decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	2
Chenodeoxycholic Acid	affects cotreatment, decreases expression, increases expression	2
Deoxycholic Acid	increases expression, affects cotreatment, decreases expression	2
Doxorubicin	decreases expression, increases expression	2
Estradiol	increases expression, affects cotreatment	2
Formaldehyde	decreases expression	2
Glycochenodeoxycholic Acid	increases expression, affects cotreatment, decreases expression	2
Glycocholic Acid	increases expression, affects cotreatment, decreases expression	2
Glycodeoxycholic Acid	affects cotreatment, decreases expression, increases expression	2
Progesterone	affects cotreatment, increases expression	2
Tretinoin	decreases expression, increases expression	2
Triclosan	affects cotreatment, decreases expression, increases expression	2
Cyclosporine	affects cotreatment, decreases expression	2
Aflatoxin B1	decreases methylation, increases expression	2
Cadmium Chloride	increases expression	2
Particulate Matter	decreases expression, increases abundance	2
TAK-243	increases sumoylation	1
22-hydroxycholesterol	increases expression	1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	affects cotreatment, decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	increases methylation, affects cotreatment	1
methylselenic acid	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
terbufos	increases methylation	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B8JX	Abcam HCT 116 MAF KO	Cancer cell line	Male
CVCL_B8YE	Abcam MCF-7 MAF KO	Cancer cell line	Female
CVCL_B9M6	Abcam A-549 MAF KO	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00333099	PHASE4	COMPLETED	INEC Study: Immuno-modulating Enteral Nutrition in Cancer
NCT00365508	PHASE4	COMPLETED	Counseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking
NCT00666978	PHASE4	COMPLETED	Health Education Counseling With or Without Bupropion in Helping African Americans Stop Smoking
NCT00754468	PHASE4	COMPLETED	Study of CryoSpray Ablation(TM)to Determine Treatment Effect, Depth of Injury, and Side Effects in the Esophagus.
NCT00790140	PHASE4	UNKNOWN	Trial of Enteral Nutrition Enriched With Eicosapentaenoic Acid (EPA) in Upper Gastrointestinal Cancer Surgery
NCT00911092	PHASE4	COMPLETED	Predictive Proteomic Factors of the Response to Concomitant Radiochemotherapy in Esophageal Cancer
NCT01038154	PHASE4	UNKNOWN	Study to Evaluate the Efficacy of Pravastatin on Survival and Recurrence of Advanced Gastroesophageal Cancer
NCT01416077	PHASE4	COMPLETED	Decreasing Postoperative Complications by Goal-Directed Fluid Therapy During Esophageal Resection
NCT01927328	PHASE4	UNKNOWN	Iron Replacement in Oesophagogastric Neoplasia
NCT01962272	PHASE4	COMPLETED	The Effect of Nutritional Counseling for Cancer Patients
NCT02042313	PHASE4	UNKNOWN	Postoperative Pain Management After Minimally Invasive Esophagectomy
NCT02320734	PHASE4	COMPLETED	Deep Neuromuscular Relaxation in Patients for Thoraco-laparoscopic Esophagectomy
NCT03384511	PHASE4	COMPLETED	The Use of 18F-ALF-NOTA-PRGD2 PET/CT Scan to Predict the Efficacy and Adverse Events of Apatinib in Malignancies.
NCT03413436	PHASE4	COMPLETED	Lobaplation or Cisplatin in Adjuvant Chemotherapy for Esophageal Carcinoma
NCT03642093	PHASE4	UNKNOWN	HOPE - A Study to Evaluate the Effect of a Prehabilitation Program on GI Cancer Patients Planning to Undergo Surgery
NCT04269369	PHASE4	UNKNOWN	Implementation of Pre-emptive Geno- and Phenotyping in 5-Fluorouracil- or Capecitabine-treated Patients
NCT05183126	PHASE4	RECRUITING	Pharmacokinetic Study of Skeletal Muscle Area-based Paclitaxel Infusion in Patients With Cancer
NCT06437288	PHASE4	ENROLLING_BY_INVITATION	Hematoporphyrin Photodynamic Therapy for Esophageal Cancer
NCT07124351	PHASE4	RECRUITING	Intraoperative Imaging of Gastrointestinal Malignancies Using Pafolacianine (CYTALUX™)
NCT03312634	PHASE3	COMPLETED	An Efficacy and Safety Study of Palovarotene for the Treatment of Fibrodysplasia Ossificans Progressiva.
NCT05027802	PHASE3	COMPLETED	A Rollover Study to Further Evaluate the Safety and Efficacy of Palovarotene Capsules in Male and Female Participants Aged ≥14 Years With Fibrodysplasia Ossificans Progressiva (FOP) Who Have Completed the Relevant Parent Studies.
NCT05394116	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Assess Safety, Tolerability and Efficacy of Garetosmab Versus Placebo Administered Intravenously (IV) in Adult Participants With Fibrodysplasia Ossificans Progressiva (FOP)
NCT07559513	PHASE3	NOT_YET_RECRUITING	A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
NCT00002631	PHASE3	COMPLETED	Combination Chemotherapy Plus Radiation Therapy in Treating Patients With Cancer of the Esophagus
NCT00002883	PHASE3	COMPLETED	Surgery With or Without Combination Chemotherapy in Treating Patients With Cancer of the Esophagus
NCT00002884	PHASE3	UNKNOWN	Chemotherapy and Radiation Therapy in Treating Patients With Cancer of the Esophagus
NCT00002897	PHASE3	COMPLETED	Surgery With or Without Chemotherapy in Treating Patients With Stage II or Stage III Cancer of the Esophagus
NCT00003118	PHASE3	COMPLETED	Surgery With or Without Chemotherapy and Radiation Therapy in Treating Patients With Cancer of the Esophagus
NCT00020787	PHASE3	COMPLETED	Vaccine Therapy Plus Chemotherapy in Treating Patients With Metastatic or Locally Recurrent Stomach Cancer or Esophageal Cancer
NCT00041262	PHASE3	UNKNOWN	Combination Chemotherapy in Treating Patients With Esophageal Cancer
NCT00047112	PHASE3	COMPLETED	Surgery With or Without Radiation Therapy and Chemotherapy in Treating Patients With Esophageal Cancer
NCT00052910	PHASE3	COMPLETED	Chemotherapy and Radiation Therapy After Surgery in Treating Patients With Stomach or Esophageal Cancer
NCT00165061	PHASE3	COMPLETED	Multi-Center Prospective Randomized Trial Comparing Standard Esophagectomy Against Chemo-Radiotherapy for Treatment of Squamous Esophageal Cancer - Early Results From the Chinese University Research Group for Esophageal Cancer (CURE)
NCT00193817	PHASE3	UNKNOWN	Three Field Radical Esophagectomy Versus Two Field Esophagectomy - a Prospective Trial
NCT00193882	PHASE3	COMPLETED	Advanced Oesophageal Cancer Study to Compare Quality of Life and Palliation of Dysphagia.
NCT00270166	PHASE3	COMPLETED	The Effect of Epoetin Alfa on the Anemia of Patients With Selected Cancers Receiving Chemotherapy
NCT00357682	PHASE3	COMPLETED	A Phase III, Randomized, Study of Aspirin and Esomeprazole Chemoprevention in Barrett’s Metaplasia
NCT00359645	PHASE3	COMPLETED	Randomized Trial to Assess the Impact of a Screening Program on Upper Aerodigestive Tract Cancer Mortality in a High Risk Population
NCT00387348	PHASE3	TERMINATED	Escitalopram in Treating Depression in Patients With Advanced Lung or Gastrointestinal Cancer
NCT00416858	PHASE3	COMPLETED	Radiation Therapy and Combination Chemotherapy With or Without Surgery in Treating Patients With Locally Advanced Esophageal Cancer That Can Be Removed By Surgery