MAZ

Summary

MAZ (MYC associated zinc finger protein, HGNC:6914) is a protein-coding gene on chromosome 16p11.2, encoding Myc-associated zinc finger protein (P56270). Transcriptional regulator, potentially with dual roles in transcription initiation and termination.

Enables DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including regulation of gene expression; regulation of signal transduction; and transcription by RNA polymerase II. Predicted to be located in cytoplasm and nucleus.

Source: NCBI Gene 4150 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 103 total — 6 pathogenic, 1 likely-pathogenic
• Transcription factor: yes — 53 downstream targets (CollecTRI)
• MANE Select transcript: NM_002383

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6914
Approved symbol	MAZ
Name	MYC associated zinc finger protein
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	ZF87, Pur-1, Zif87, ZNF801
Ensembl gene	ENSG00000103495
Ensembl biotype	protein_coding
OMIM	600999
Entrez	4150

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 13 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000219782, ENST00000322945, ENST00000545521, ENST00000561855, ENST00000562337, ENST00000562557, ENST00000563012, ENST00000563402, ENST00000565777, ENST00000566906, ENST00000567444, ENST00000568282, ENST00000568411, ENST00000568544, ENST00000569978

RefSeq mRNA: 4 — MANE Select: NM_002383 NM_001042539, NM_001276275, NM_001276276, NM_002383

CCDS: CCDS42143, CCDS42144, CCDS61902, CCDS61903

Canonical transcript exons

ENST00000322945 — 5 exons

Exon	Start	End
ENSE00001300091	29806978	29807828
ENSE00002594971	29806529	29806893
ENSE00003593694	29808230	29808293
ENSE00003602192	29808570	29808741
ENSE00003678901	29810077	29811164

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 108.9669 / max 741.4835, expressed in 1827 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153503	32.0390	1796
153502	18.5905	1783
153501	16.9014	1784
153513	11.7709	1755
153500	11.3125	1773
153495	4.1017	1506
153499	3.6393	1325
153497	3.2124	1251
153514	3.1856	1270
153498	1.2309	638

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	99.60	gold quality
ganglionic eminence	UBERON:0004023	99.58	gold quality
cortical plate	UBERON:0005343	99.47	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.70	gold quality
cerebellar hemisphere	UBERON:0002245	98.53	gold quality
mucosa of transverse colon	UBERON:0004991	98.49	gold quality
cerebellar cortex	UBERON:0002129	98.40	gold quality
stromal cell of endometrium	CL:0002255	98.38	gold quality
granulocyte	CL:0000094	98.31	gold quality
right frontal lobe	UBERON:0002810	98.23	gold quality
tendon of biceps brachii	UBERON:0008188	98.17	gold quality
transverse colon	UBERON:0001157	98.15	gold quality
left testis	UBERON:0004533	97.86	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.83	gold quality
right coronary artery	UBERON:0001625	97.81	gold quality
right ovary	UBERON:0002118	97.78	gold quality
right testis	UBERON:0004534	97.77	gold quality
amygdala	UBERON:0001876	97.74	gold quality
rectum	UBERON:0001052	97.67	gold quality
lower esophagus	UBERON:0013473	97.67	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.67	gold quality
lymph node	UBERON:0000029	97.62	gold quality
body of uterus	UBERON:0009853	97.60	gold quality
endocervix	UBERON:0000458	97.54	gold quality
right lobe of thyroid gland	UBERON:0001119	97.52	gold quality
left uterine tube	UBERON:0001303	97.51	gold quality
right uterine tube	UBERON:0001302	97.49	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.49	gold quality
body of pancreas	UBERON:0001150	97.44	gold quality
popliteal artery	UBERON:0002250	97.43	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.09

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

53 targets.

Target	Regulation
AP1
ARHGDIG	Unknown
BCL2	Activation
CAT
CD4	Unknown
CD74
CDKN1A	Repression
CISH
CKM
CLCNKA	Unknown
EFNB2
FGG	Activation
GATA4
GNAS
GRIN1
HRAS	Activation
HTR1A	Unknown
IAPP
IL1B
INS	Activation
KRAS
MAZ
MMP1	Activation
MMP14	Activation
MMP2	Activation
MMP9	Unknown
MYB	Activation
MYC	Unknown
MYH6
NOS3	Repression

JASPAR motifs

Motif	Name	Family
MA1522.1	MAZ	More than 3 adjacent zinc fingers
MA1522.2	MAZ	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:7760814

Upstream regulators (CollecTRI, top): BPTF, GLI2, MAZ, MYB, SP1

miRNA regulators (miRDB)

36 targeting MAZ, 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-4282	99.99	75.36	6408
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-3660	99.68	67.33	1149
HSA-MIR-4526	99.68	67.07	1136
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-642A-5P	99.51	65.10	1152
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-1237-3P	98.55	67.65	1423
HSA-MIR-5187-5P	98.54	67.94	952
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-6826-3P	98.19	66.32	1153
HSA-MIR-615-5P	98.10	63.76	591

Literature-anchored findings (GeneRIF, showing 37)

• relative abundance of SAF-2 plays a critical role in the fine tuned regulation of inflammation-responsive genes that are controlled by SAF-1 (PMID:12270922)
• epitope spreading between the Tr antigen and the MAZ-DCC complex offers a possible model of immune-mediated cerebellar disease. (PMID:12509857)
• A novel promoter element was detected in the human MMP1 gene, and the inflammation-responsive transcription factor SAF-1 was found to interact with it in osteoarthritis (PMID:12528113)
• The putative -45 to -39 MYC-associated zinc finger protein-binding site regulates the constitutive activity of human PTHR1 P2 promoter. (PMID:14765995)
• SAF-1 controls cell cycle progression via p21 induction, and pathophysiological conditions that favor overexpression of SAF-1, such as an acute inflammatory condition, can trigger cellular growth arrest. (PMID:15067082)
• SAF-1 transcription factor is a regulator of MMP-14 gene induction in monocyte/macrophage cells. (PMID:15528467)
• The MAZ pause element promotes Pol II termination downstream of a poly(A) signal and the strength of the poly(A) signal. (PMID:16648491)
• In transgenic mice SAF-1 plays a key role in the development of reactive amyloid A amyloidosis, a consequence of chronic inflammation. (PMID:16888022)
• SAF-1 induces VEGF transcription by directly binding to its promoter; markedly higher levels of SAF-1 interaction with the VEGF promoter was detected in the cartilage tissues of arthritic mice as well as human osteoarthritic patients. (PMID:17237427)
• These findings help to define the molecular mechanism driving the high expression of PPARgamma1 in breast cancer and raise new questions regarding the role of MAZ in cancer progression. (PMID:17902047)
• MAZ and Sp1 play important roles on the transcriptional activation of the human edn promoter through specific binding to a 34-nt segment present in representative primate eosinophil rnase promoters. (PMID:17927842)
• The SAF-1.c-Fos.c-Jun ternary complex efficiently promotes transcription from both SAF-1 and AP-1 sites of human MMP-1 promoter. (PMID:19028685)
• Gastrin activates paracrine networks leading to induction of PAI-2 via MAZ and ASC-1. (PMID:19074642)
• Existence of multiple promoters regulation MAZ, which is expressed during inflammation. (PMID:19583771)
• these findings reveal that SAF-1 is a hitherto unrecognized participant in inducing VEGF expression in triple-negative breast cancer cells, an aggressive form of breast cancer that currently lacks effective treatment options. (PMID:21665940)
• Role of MAZ in prostate cancer and its interaction with androgen receptor were investigated. siRNA knockdown of AR significantly decreased MAZ expression, and knockdown of MAZ significantly increased the expression of AR. (PMID:23609189)
• In conclusion, our present study indicated that miR-34c regulated the permeability of BTB via MAZ-mediated expression changes of ZO-1, occludin, and claudin-5. (PMID:25201524)
• Studies show a feed-forward regulatory pathway in breast cancer cells where SAF-1 acts as a transcriptional inducer of Ras which in turn increases DNA-binding and transcriptional activities of SAF-1 which in turn, increases transcription of Ras. (PMID:25449683)
• Myc-associated zinc-finger protein (MAZ) was identified as a direct target of miR-449a, mediating the tumor-suppressive effects. (PMID:25487955)
• a transcriptional factor, Myc-associated zinc finger protein (MAZ), plays an important role in ADAM10 transcription in response to CT-1 in neural stem/progenitor cells. (PMID:26867947)
• Akt phosphorylates MAZ at Thr385, and the phosphorylated MAZ is released from the p53 promoter, leading to transcriptional activation of p53. (PMID:26902421)
• MAZ can promote the invasion and metastasis of hepatocellular carcinoma by inducing epithelial-mesenchymal transition (EMT). (PMID:27861158)
• Data suggest that long noncoding RNA PlncRNA1 and microRNA miR-34c bound together to regulate the expressions of MAZ, ZO-1 and occludin. (PMID:28153728)
• A quantitative association between MAZ-autoantibody optical density on ELISA and the cumulative inflammatory burden of atherosclerosis on (18)F-FDG PET/CT could be shown, suggesting MAZ-Ab as potential biomarker for atherosclerotic disease. (PMID:28279832)
• MAZ/FOXF2 axis can promote the proliferation of basal like breast cancer cells and suppress disease progression. (PMID:28577976)
• The data indicate that MAZ is essential to bypass MYB promoter repression by RB family members and to induce MYB expression. (PMID:28973440)
• High MAZ expression is associated with pancreatic cancer cell invasion. (PMID:29414775)
• MAZ is a potential therapeutic target to dampen STAT3 signaling in colon cancer. (PMID:30181395)
• genotypes TT (SHMT1 rs4925166), CC (ERG rs2836425), GG (MAZ rs34286592), and GG (SHMT1 rs1979277) had the highest negative association (protective effect) with multiple sclerosis (PMID:30456721)
• We have constructed the bichromatic fluorescent reporter driven by SAF/MAZ 5’-proximal promoter plasmids from which transactivation status of SAF-1 and SAF-3 alternative promoter could be monitored by EGFP and DsRed expression respectively (PMID:30610159)
• The transcription factor Maz is essential for normal eye development. (PMID:32571845)
• The Myc-associated zinc finger protein (MAZ) works together with CTCF to control cohesin positioning and genome organization. (PMID:33558242)
• Identification of the transcription factor MAZ as a regulator of erythropoiesis. (PMID:34351390)
• Myc-Associated Zinc Finger Protein Promotes Metastasis of Papillary Thyroid Cancer. (PMID:37664917)
• Genome-wide functional integration identified MAZ-controlled RPS14 dysregulation in hepatocellular carcinoma. (PMID:38189915)
• G-quadruplexes promote the motility in MAZ phase-separated condensates to activate CCND1 expression and contribute to hepatocarcinogenesis. (PMID:38316778)
• MAZ promotes thyroid cancer progression by driving transcriptional reprogram and enhancing ERK1/2 activation. (PMID:39197582)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mazb	ENSDARG00000063555
danio_rerio	maza	ENSDARG00000087330
mus_musculus	Maz	ENSMUSG00000030678
rattus_norvegicus	Maz	ENSRNOG00000055082

Paralogs (36): ZBTB32 (ENSG00000011590), SNAI2 (ENSG00000019549), PRDM1 (ENSG00000057657), PRDM6 (ENSG00000061455), ZNF76 (ENSG00000065029), PATZ1 (ENSG00000100105), ZBTB16 (ENSG00000109906), ZNF451 (ENSG00000112200), ZBTB45 (ENSG00000119574), ZNF410 (ENSG00000119725), SNAI1 (ENSG00000124216), ZNF384 (ENSG00000126746), ZBTB1 (ENSG00000126804), VEZF1 (ENSG00000136451), PRDM14 (ENSG00000147596), ZNF276 (ENSG00000158805), ZNF362 (ENSG00000160094), ZNF653 (ENSG00000161914), ZNF281 (ENSG00000162702), ZNF148 (ENSG00000163848), ZNF143 (ENSG00000166478), HIC2 (ENSG00000169635), PRDM10 (ENSG00000170325), ZNF296 (ENSG00000170684), ZNF692 (ENSG00000171163), ZNF575 (ENSG00000176472), HIC1 (ENSG00000177374), ZBTB18 (ENSG00000179456), ZBTB42 (ENSG00000179627), ZBTB20 (ENSG00000181722), ZBTB7C (ENSG00000184828), SNAI3 (ENSG00000185669), ZFP91 (ENSG00000186660), MTF1 (ENSG00000188786), SCRT2 (ENSG00000215397), SCRT1 (ENSG00000261678)

Protein

Protein identifiers

Myc-associated zinc finger protein — P56270 (reviewed: P56270)

Alternative names: Pur-1, Purine-binding transcription factor, Serum amyloid A-activating factor-1, Transcription factor Zif87, ZF87, Zinc finger protein 801

All UniProt accessions (11): P56270, H3BPU3, H3BQI4, H3BQS2, H3BRC5, H3BTS8, I3L0M3, I3L2Z5, I3L411, I3L4D3, I3L4Y2

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional regulator, potentially with dual roles in transcription initiation and termination. Binds DNA and functions as a transcriptional activator. Binds to two G/A-rich sites, ME1a1 and ME1a2, within the MYC promoter having greater affinity for the former. Also binds to multiple G/C-rich sites within the promoter of the Sp1 family of transcription factors. Binds DNA and functions as a transcriptional activator. Inhibits MAZ isoform 1-mediated transcription. Binds DNA and functions as a transcriptional activator.

Subunit / interactions. Interacts with BPTF. Forms a heterodimer with MAZ isoform 2; the interaction inhibits MAZ isoform 1-mediated transcription activation. Forms a heterodimer with MAZ isoform 1; the interaction inhibits MAZ isoform 1-mediated transcription activation.

Subcellular location. Nucleus.

Tissue specificity. Present in kidney, liver and brain. In the brain, highest levels are found in motor cortex and midfrontal cortex (at protein level). Expressed in the heart, brain, placenta, lung, liver, skeletal muscle and weakly expressed in the kidney. Expressed in the joint synovium.

Induction. Induced by cytokine and growth factor stimulation.

Miscellaneous. May act as a dominant negative of isoform 1. Reduced expression during inflammatory conditions. The transactivation potential of isoform 3 is much greater than that of the predominantly expressed isoform 1.

Isoforms (4)

UniProt ID	Names	Canonical?
P56270-1	1, SAF-1	yes
P56270-2	2, SAF-2
P56270-3	3, SAF-3
P56270-4	4

RefSeq proteins (4): NP_001036004, NP_001263204, NP_001263205, NP_002374* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF13894

UniProt features (19 total): zinc finger region 6, sequence conflict 5, splice variant 3, region of interest 2, chain 1, modified residue 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P56270-F1	60.37	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 (1): 361

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 245 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, E2F_Q4, ELVIDGE_HYPOXIA_DN, E2F_Q4_01, E2F4DP1_01, GOBP_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION, LFA1_Q6, CMYB_01, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, HSIAO_HOUSEKEEPING_GENES, FRASOR_RESPONSE_TO_SERM_OR_FULVESTRANT_DN, MODULE_308, PATIL_LIVER_CANCER, BROWNE_HCMV_INFECTION_48HR_DN, E2F1DP1_01

GO Biological Process (10): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), transcription initiation at RNA polymerase II promoter (GO:0006367), termination of RNA polymerase II transcription (GO:0006369), positive regulation of cell population proliferation (GO:0008284), positive regulation of gene expression (GO:0010628), positive regulation of cell migration (GO:0030335), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), negative regulation of apoptotic signaling pathway (GO:2001234)

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), RNA binding (GO:0003723), zinc ion binding (GO:0008270), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	4
regulation of transcription by RNA polymerase II	2
regulation of DNA-templated transcription	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
nucleic acid binding	2
negative regulation of DNA-templated transcription	1
DNA-templated transcription initiation	1
DNA-templated transcription termination	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
positive regulation of intracellular signal transduction	1
negative regulation of signal transduction	1
negative regulation of apoptotic process	1
apoptotic signaling pathway	1
regulation of apoptotic signaling pathway	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
transition metal ion binding	1
transcription cis-regulatory region binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1648 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAZ	KIF22	Q14807	855
MAZ	EWSR1	Q01844	845
MAZ	MYC	P01106	674
MAZ	CLCNKA	P51800	664
MAZ	RNF4	P78317	663
MAZ	ZSCAN1	Q8NBB4	658
MAZ	JUND	P17535	595
MAZ	USF1	P22415	595
MAZ	CLCNKB	P51801	594
MAZ	BACH2	Q9BYV9	573
MAZ	FOS	P01100	564
MAZ	BPTF	Q12830	561
MAZ	MAX	P25912	560
MAZ	YY1	P25490	556
MAZ	PPT2	Q9UMR5	549

IntAct

70 interactions, top by confidence:

A	B	Type	Score
FBL	NOP56	psi-mi:“MI:0914”(association)	0.800
MAPK14	OBSL1	psi-mi:“MI:0914”(association)	0.790
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
MAZ	APOD	psi-mi:“MI:0915”(physical association)	0.590
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
MAZ	Dcc	psi-mi:“MI:0915”(physical association)	0.510
MAZ	DCC	psi-mi:“MI:0915”(physical association)	0.510
DCC	MAZ	psi-mi:“MI:0915”(physical association)	0.510
Dcc	MAZ	psi-mi:“MI:0915”(physical association)	0.510
GSK3B	SEC16A	psi-mi:“MI:0914”(association)	0.420
TNFAIP3	LRRIQ3	psi-mi:“MI:0914”(association)	0.420
MAZ	dcc.L	psi-mi:“MI:0915”(physical association)	0.400
dcc.L	MAZ	psi-mi:“MI:0915”(physical association)	0.400
CCL22	MAZ	psi-mi:“MI:0915”(physical association)	0.370
CCL24	MAZ	psi-mi:“MI:0915”(physical association)	0.370
	MAZ	psi-mi:“MI:0915”(physical association)	0.370
CCL26	MAZ	psi-mi:“MI:0915”(physical association)	0.370
CSF2	MAZ	psi-mi:“MI:0915”(physical association)	0.370
CXCL2	MAZ	psi-mi:“MI:0915”(physical association)	0.370
CXCL5	MAZ	psi-mi:“MI:0915”(physical association)	0.370
IL15	MAZ	psi-mi:“MI:0915”(physical association)	0.370
IL17B	MAZ	psi-mi:“MI:0915”(physical association)	0.370
IL1RN	MAZ	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (121): MAZ (Affinity Capture-RNA), MAZ (Affinity Capture-RNA), MAZ (Proximity Label-MS), MAZ (Affinity Capture-MS), MAZ (Two-hybrid), MAZ (Proximity Label-MS), APOD (Affinity Capture-MS), MAZ (Affinity Capture-MS), MAZ (Affinity Capture-MS), MAZ (Affinity Capture-MS), MAZ (Affinity Capture-MS), MAZ (Affinity Capture-MS), MAZ (Affinity Capture-MS), MAZ (Affinity Capture-MS), MAZ (Affinity Capture-MS)

ESM2 similar proteins: A2BID7, A4IGQ8, A5PKF5, A6QR44, B4F6U4, O14529, O35589, O35615, P53349, P56270, P56671, P70298, P86174, Q08B72, Q12766, Q13233, Q13506, Q1LZ89, Q2TBI2, Q3ULM0, Q3UTQ7, Q5FWH2, Q5NVM3, Q5RAX9, Q5RF77, Q5XJV7, Q61122, Q62722, Q62925, Q64127, Q642B6, Q6IR68, Q6P3Z3, Q6TGZ4, Q6YND2, Q6ZU67, Q7T3U0, Q7TSG2, Q86UZ6, Q86XL3

Diamond homologs: A0A1V6NWD3, A0A2H1A5W4, A1L2U9, B0XS89, B1WAZ8, B1WBU4, P53243, P56270, P56670, P56671, P78871, Q00453, Q0IH98, Q0VCJ6, Q12132, Q4WXK4, Q6P882, Q96BR9, Q99PV8, Q9C0K0, Q9CWH1, Q9H165, Q9QYE3, Q9UPG8, Q9US36, Q9UTS5, A2A884, A2ANX9, A7Y7X5, B0X9H6, B0YDH7, E9PW05, E9PZZ1, G5EBU4, O15391, O60315, O62836, O75362, O77459, O95863

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
MAPK3	up-regulates	MAZ	phosphorylation
CSNK2A1	up-regulates	MAZ	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 70 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.

GO biological processes:

GO term	Partners	Fold	FDR
chemotaxis	6	12.9×	1e-03
cell-cell signaling	8	8.8×	7e-04
immune response	10	7.5×	3e-04
inflammatory response	11	6.6×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	1
Uncertain significance	77
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
1054446	NC_000016.9:g.(?29802081)(30199917_?)del	Pathogenic
253371	GRCh37/hg19 16p11.2(chr16:29822338-29826328)x3	Pathogenic
253372	GRCh37/hg19 16p11.2(chr16:29822338-29826328)x1	Pathogenic
2582950	GRCh37/hg19 16p11.2(chr16:29674568-30199897)x3	Pathogenic
3024603	GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1	Pathogenic
992652	GRCh37/hg19 16p11.2(chr16:29443322-30320321)x3	Pathogenic
4686087	NM_145239.3(PRRT2):c.1022G>C (p.Ter341Ser)	Likely pathogenic

SpliceAI

853 predictions. Top by Δscore:

Variant	Effect	Δscore
16:29808569:GAAAT:G	acceptor_gain	1.0000
16:29810071:GTGCA:G	acceptor_loss	1.0000
16:29810072:TGCA:T	acceptor_loss	1.0000
16:29810073:GCAGG:G	acceptor_loss	1.0000
16:29810074:CAGGT:C	acceptor_loss	1.0000
16:29810075:A:AT	acceptor_loss	1.0000
16:29806893:GGTG:G	donor_loss	0.9900
16:29806895:T:A	donor_loss	0.9900
16:29807811:TGGC:T	donor_gain	0.9900
16:29807870:G:T	donor_gain	0.9900
16:29808293:GGTAG:G	donor_loss	0.9900
16:29808294:GTAGG:G	donor_loss	0.9900
16:29808565:CTCA:C	acceptor_loss	0.9900
16:29808567:CAG:C	acceptor_loss	0.9900
16:29808568:A:AG	acceptor_gain	0.9900
16:29808568:AG:A	acceptor_loss	0.9900
16:29808569:G:GG	acceptor_gain	0.9900
16:29808569:GA:G	acceptor_gain	0.9900
16:29808569:GAA:G	acceptor_gain	0.9900
16:29808738:AAAGG:A	donor_loss	0.9900
16:29808740:AGG:A	donor_loss	0.9900
16:29808741:GGTAC:G	donor_loss	0.9900
16:29808743:T:A	donor_loss	0.9900
16:29809535:AATAG:A	acceptor_gain	0.9900
16:29809537:TA:T	acceptor_loss	0.9900
16:29809538:A:AT	acceptor_loss	0.9900
16:29809539:G:A	acceptor_loss	0.9900
16:29810075:A:AG	acceptor_gain	0.9900
16:29810076:G:GG	acceptor_gain	0.9900
16:29807743:G:GT	donor_gain	0.9800

AlphaMissense

3054 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:29807359:T:C	C192R	1.000
16:29807360:G:A	C192Y	1.000
16:29807361:C:G	C192W	1.000
16:29807368:T:A	C195S	1.000
16:29807368:T:C	C195R	1.000
16:29807369:G:A	C195Y	1.000
16:29807369:G:C	C195S	1.000
16:29807370:C:G	C195W	1.000
16:29807380:T:C	F199L	1.000
16:29807381:T:C	F199S	1.000
16:29807382:C:A	F199L	1.000
16:29807382:C:G	F199L	1.000
16:29807626:T:A	C281S	1.000
16:29807626:T:C	C281R	1.000
16:29807627:G:A	C281Y	1.000
16:29807627:G:C	C281S	1.000
16:29807635:T:A	C284S	1.000
16:29807635:T:C	C284R	1.000
16:29807636:G:A	C284Y	1.000
16:29807636:G:C	C284S	1.000
16:29807647:T:C	F288L	1.000
16:29807648:T:C	F288S	1.000
16:29807649:C:A	F288L	1.000
16:29807649:C:G	F288L	1.000
16:29807653:G:C	D290H	1.000
16:29807654:A:C	D290A	1.000
16:29807654:A:T	D290V	1.000
16:29807666:T:C	L294P	1.000
16:29807672:G:C	R296P	1.000
16:29807674:C:A	H297N	1.000

dbSNP variants (sampled 300 via entrez): RS1000009272 (16:29806136 C>A,G,T), RS1000063049 (16:29805858 T>C), RS1000117193 (16:29804965 T>C), RS1000701572 (16:29809367 G>A,C), RS1001520057 (16:29806499 G>GC), RS1001592149 (16:29806768 G>A), RS1001688054 (16:29809403 G>A), RS1001969431 (16:29804352 C>G,T), RS1002140733 (16:29808997 C>A,G,T), RS1002361176 (16:29804140 T>A,C), RS1002568711 (16:29805852 G>A,C), RS1003215218 (16:29810719 C>G,T), RS1003382966 (16:29804173 C>A,T), RS1003667929 (16:29806193 T>A,C,G), RS1004648374 (16:29810125 C>G,T)

Disease associations

OMIM: gene MIM:600999 | disease phenotypes: MIM:611881, MIM:615401, MIM:128200, MIM:602066

GenCC curated gene-disease

Mondo (4): glycogen storage disease due to aldolase A deficiency (MONDO:0012747), severe combined immunodeficiency due to CORO1A deficiency (MONDO:0014168), episodic kinesigenic dyskinesia (MONDO:0044202), infantile convulsions and choreoathetosis (MONDO:0011178)

Orphanet (4): Severe combined immunodeficiency due to CORO1A deficiency (Orphanet:228003), Glycogen storage disease due to aldolase A deficiency (Orphanet:57), Paroxysmal kinesigenic dyskinesia (Orphanet:98809), Infantile convulsions and choreoathetosis (Orphanet:31709)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003566_3	Multiple sclerosis	5.000000e-07
GCST90002395_191	Mean platelet volume	7.000000e-13

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C562718	Glycogen Storage Disease XII (supp.)
C535522	Infantile convulsions and paroxysmal choreoathetosis, familial (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression	2
cobaltous chloride	decreases expression	2
Air Pollutants	affects expression, increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Tretinoin	decreases expression, increases expression	2
Valproic Acid	affects expression, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
ginger extract	decreases expression, increases abundance	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
methylselenic acid	decreases expression	1
trichostatin A	affects expression	1
arsenite	increases methylation	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	decreases expression	1
benzo(e)pyrene	decreases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
monomethylarsonous acid	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
(+)-JQ1 compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1

Cellosaurus cell lines

6 cell lines: 3 embryonic stem cell, 2 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A4A7	SEES3-1V human MAZ, clone1	Embryonic stem cell	Male
CVCL_A4A8	SEES3-1V human MAZ, clone2	Embryonic stem cell	Male
CVCL_A4A9	SEES3-1V human MAZ, clone3	Embryonic stem cell	Male
CVCL_E2BV	HAP1 MAZ (-) 1	Cancer cell line	Male
CVCL_E2BW	HAP1 MAZ (-) 2	Cancer cell line	Male
CVCL_HC84	HEK293 eGFP-MAZ	Transformed cell line	Female

Clinical trials (associated diseases)

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