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. Located in nucleoplasm.

Source: NCBI Gene 4150 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 103 total — 4 pathogenic, 1 likely-pathogenic
• GTEx eGene: eQTL in 17 tissues, sQTL in 1 (q < 0.05)
• Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.35 (moderately constrained)
• Transcription factor: yes — 53 downstream targets (CollecTRI)
• MANE Select transcript: NM_002383
• Notable: 103 clinical variants but no curated precision-oncology (CIViC) evidence yet

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

MANE Select: ENST00000322945

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 4, TSL 2: 3, TSL 3: 4, TSL 5: 4

ENST00000322945, ENST00000219782, 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.

Highest expression (Bgee): ventricular zone, ganglionic eminence, cortical plate, hemisphere of cerebellum, cerebellar hemisphere.

Genetic regulation across tissues (GTEx eQTL / sQTL)

MAZ is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 17 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

18 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Brain Nucleus accumbens basal ganglia	eqtl	1.9e-04	+0.52	16:29782767:C:T
Thyroid	eqtl	7.7e-03	-0.33	16:29293111:C:T
Cells Cultured fibroblasts	eqtl	7.8e-03	-0.27	16:29769661:A:G
Artery Tibial	eqtl	7.8e-03	-0.34	16:30184593:T:C
Skin Sun Exposed Lower leg	eqtl	1.2e-02	-0.35	16:29293111:C:T
Muscle Skeletal	eqtl	1.6e-02	-0.34	16:29244045:G:A
Testis	eqtl	2.3e-02	-0.70	16:29180179:C:T
Skin Not Sun Exposed Suprapubic	eqtl	2.4e-02	-0.30	16:29426210:T:C
Esophagus Gastroesophageal Junction	eqtl	2.6e-02	-0.23	16:29594215:G:A
Brain Caudate basal ganglia	eqtl	3.2e-02	+0.61	16:29132422:A:G
Esophagus Muscularis	eqtl	3.7e-02	-0.41	16:30460482:G:T
Breast Mammary Tissue	eqtl	3.8e-02	-0.40	16:29784057:C:A
Colon Transverse	eqtl	4.1e-02	-0.17	16:30059219:C:T
Artery Coronary	eqtl	4.2e-02	-0.37	16:29083829:C:T
Colon Sigmoid	eqtl	4.3e-02	-0.64	16:29285292:A:T
Cells EBV-transformed lymphocytes	sqtl	4.5e-02	-0.33	16:29809974:C:T
Pancreas	eqtl	4.6e-02	-0.40	16:28996618:T:G
Adrenal Gland	eqtl	4.7e-02	-0.70	16:30184593:T:C

FANTOM5 promoters

showing 10 of 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

showing 100 of 298 tissues 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
tibial artery	UBERON:0007610	97.43	gold quality
left ovary	UBERON:0002119	97.41	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.39	gold quality
nucleus accumbens	UBERON:0001882	97.36	gold quality
adenohypophysis	UBERON:0002196	97.31	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.29	gold quality
prefrontal cortex	UBERON:0000451	97.23	gold quality
apex of heart	UBERON:0002098	97.21	gold quality
aorta	UBERON:0000947	97.14	gold quality
left lobe of thyroid gland	UBERON:0001120	97.12	gold quality
cerebellum	UBERON:0002037	97.12	gold quality
lower esophagus mucosa	UBERON:0035834	97.12	gold quality
gall bladder	UBERON:0002110	97.09	gold quality
caecum	UBERON:0001153	97.08	gold quality
right adrenal gland	UBERON:0001233	97.08	gold quality
body of stomach	UBERON:0001161	97.07	gold quality
right adrenal gland cortex	UBERON:0035827	97.06	gold quality
left coronary artery	UBERON:0001626	97.05	gold quality
mucosa of stomach	UBERON:0001199	97.02	gold quality
embryo	UBERON:0000922	97.01	gold quality
fundus of stomach	UBERON:0001160	97.00	gold quality
coronary artery	UBERON:0001621	96.99	gold quality
descending thoracic aorta	UBERON:0002345	96.96	gold quality
vermiform appendix	UBERON:0001154	96.94	gold quality
pylorus	UBERON:0001166	96.94	gold quality
ectocervix	UBERON:0012249	96.93	gold quality
pituitary gland	UBERON:0000007	96.91	gold quality
left adrenal gland	UBERON:0001234	96.88	gold quality
gastrocnemius	UBERON:0001388	96.85	gold quality
left adrenal gland cortex	UBERON:0035825	96.85	gold quality
thoracic aorta	UBERON:0001515	96.80	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.80	gold quality
esophagus	UBERON:0001043	96.79	gold quality
metanephros cortex	UBERON:0010533	96.77	gold quality
adrenal cortex	UBERON:0001235	96.76	gold quality
ascending aorta	UBERON:0001496	96.76	gold quality
upper lobe of left lung	UBERON:0008952	96.75	gold quality
colon	UBERON:0001155	96.73	gold quality
stomach	UBERON:0000945	96.72	gold quality
thyroid gland	UBERON:0002046	96.65	gold quality
small intestine	UBERON:0002108	96.63	gold quality
smooth muscle tissue	UBERON:0001135	96.60	gold quality
islet of Langerhans	UBERON:0000006	96.59	gold quality
skin of leg	UBERON:0001511	96.58	gold quality
large intestine	UBERON:0000059	96.56	gold quality
vagina	UBERON:0000996	96.54	gold quality
intestine	UBERON:0000160	96.53	gold quality
muscle of leg	UBERON:0001383	96.49	gold quality
spleen	UBERON:0002106	96.49	gold quality
testis	UBERON:0000473	96.45	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.43	gold quality
sigmoid colon	UBERON:0001159	96.41	gold quality
nerve	UBERON:0001021	96.36	gold quality
tibial nerve	UBERON:0001323	96.36	gold quality
upper lobe of lung	UBERON:0008948	96.36	gold quality
pancreas	UBERON:0001264	96.34	gold quality
hypothalamus	UBERON:0001898	96.26	gold quality
esophagus mucosa	UBERON:0002469	96.26	gold quality
putamen	UBERON:0001874	96.25	gold quality
skin of abdomen	UBERON:0001416	96.24	gold quality
adrenal gland	UBERON:0002369	96.17	gold quality
caudate nucleus	UBERON:0001873	96.15	gold quality
right lung	UBERON:0002167	96.13	gold quality
prostate gland	UBERON:0002367	96.13	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	96.12	gold quality
right lobe of liver	UBERON:0001114	96.11	gold quality
ovary	UBERON:0000992	96.09	gold quality
omental fat pad	UBERON:0010414	96.06	gold quality
peritoneum	UBERON:0002358	96.05	gold quality
minor salivary gland	UBERON:0001830	95.99	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

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Bone marrow	tissue	257.8	medium
Thymus	tissue	239.7
Hippocampus	tissue	138.2	medium
Colon	tissue	131.8	medium
Ovary	tissue	124.8	not detected
Lymph node	tissue	117.1	medium
Prostate	tissue	116.3	medium
Cerebral cortex	tissue	110.3	medium
Temporal cortex	tissue	110.3
Hippocampal formation	tissue	109.4
Entorhinal cortex	tissue	109.4
Prefrontal cortex	tissue	108.3
Frontal cortex	tissue	108.1
Insular cortex	tissue	107.8
Parathyroid gland	tissue	106.9	medium
Motor cortex	tissue	105.9
Tonsil	tissue	104.4	medium
Amygdala	tissue	102.1
Skeletal muscle	tissue	101.4	low
Pancreas	tissue	100.3	medium
Olfactory bulb	tissue	100.0
Somatosensory cortex	tissue	99.4
Postcentral gyrus	tissue	96.1
Rectum	tissue	95.2	medium
Occipital cortex	tissue	94.6
Cerebellum	tissue	94.5	high
Retrosplenial and cingulate cortex	tissue	94.4
Locus coeruleus	tissue	93.4
Skin 1	tissue	91.5	medium
Nucleus accumbens	tissue	91.3
Retrosplenial cortex	tissue	89.8
Ventral forebrain	tissue	89.7
Appendix	tissue	89.0	medium
Duodenum	tissue	88.5	high
Tongue	tissue	87.3
Basal ganglia	tissue	85.9	medium
Small intestine	tissue	84.4	medium
Fallopian tube	tissue	83.8	not detected
Salivary gland	tissue	81.9	high
Putamen	tissue	81.0
Caudate putamen	tissue	81.0
Pituitary gland	tissue	79.7
Corpus callosum	tissue	79.6
Septum	tissue	78.0
Thalamus	tissue	77.3
Midbrain	tissue	75.4
Superior colliculi	tissue	74.9
Spinal cord	tissue	74.3
Hypothalamus	tissue	72.9
Seminal vesicle	tissue	71.6	medium
Pons	tissue	71.5
Smooth muscle	tissue	71.1	medium
Spleen	tissue	71.0	low
Choroid plexus	tissue	69.6
Gallbladder	tissue	69.3	high
Cervix	tissue	69.2	medium
Stomach 1	tissue	68.7	medium
Substantia nigra	tissue	68.6
Urinary bladder	tissue	68.5	medium
Thyroid gland	tissue	67.4	medium

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Posterior cingulate cortex (143.4), Entorhinal gyrus (137.7), Lateral amygdala (134.8), Hippocampus, CA3 (129.7), Basal amygdala (128.6).

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

showing 30 of 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)

Targeting MAZ by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 36 miRNAs:

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

Functional genomics

gnomAD constraint: pLI 0.999, LOEUF 0.35, missense Z -1.41 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000322945 splits into 3 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
16:29,806,702–29,807,596	513 / 381.0	1.35	no
16:29,807,597–29,808,685	134 / 191.3	0.70	no
16:29,808,686–29,810,228	116 / 95.0	1.22	no

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)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1338823) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 19 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal head morphology	1
absent kidney	1
decreased corpus callosum size	1
decreased exploration in new environment	1
male infertility	1
abnormal heart atrium morphology	1
renal hypoplasia	1
single kidney	1
urinary bladder hypoplasia	1
fetal growth retardation	1
abnormal auditory brainstem response	1
postnatal lethality, incomplete penetrance	1
lethality throughout fetal growth and development, incomplete penetrance	1
abnormal bladder urine volume	1
decreased brain internal capsule size	1
decreased cingulate cortex size	1
increased secondary somatosensory cortex size	1
decreased habenula size	1
small lateral ventricles	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Mesocricetus auratus	P56670	100.0%	Diamond
Sus scrofa	P80944	100.0%	Diamond
Bos taurus	O62836	99.2%	Diamond
Gorilla gorilla gorilla	Q52V16	98.8%	Diamond
Pan troglodytes	Q6B4Z5	98.0%	Diamond
Gallus gallus	P36197	84.1%	Diamond
Drosophila melanogaster	P28166	82.5%	Diamond
Schizosaccharomyces pombe 972h-	P78871	72.2%	Diamond
Saccharomyces cerevisiae S288C	Q00453	67.5%	Diamond
Elsinoe fawcettii	B0ZT45	54.8%	Diamond
Penicillium polonicum	A0A1V6NWD3	53.1%	Diamond
Aspergillus fumigatus A1163	B0XS89	48.0%	Diamond
Caenorhabditis elegans	Q65XX7	47.1%	Diamond
Xenopus tropicalis	B1H2Q6	46.7%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
MVP-DT	ncRNA	112268170
C16orf54	protein-coding	283897
KIF22	protein-coding	3835
ZG16	protein-coding	653808
CDIPT	protein-coding	10423
PRRT2	protein-coding	112476
PAGR1	protein-coding	79447
MVP	protein-coding	9961

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	Zf-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

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P56270-F1	60.37	0.00

Human Protein Atlas

Protein class: Predicted intracellular proteins, Transcription factors, Zinc-coordinating DNA-binding domains

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH approved · IF enhanced

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)

Type	Positions
Phosphoserine	361

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

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 (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)

GO top-level categories

36 GO namespaces:

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
nuclear lumen	1
cellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 13 of 20 annotations. The rest are phylogenetic / computational / electronic (IEA).

13 experimentally-supported GO terms:

GO term	NS	Evidence
negative regulation of apoptotic signaling pathway	BP	direct assay
negative regulation of transcription by RNA polymerase II	BP	direct assay
positive regulation of DNA-templated transcription	BP	direct assay
positive regulation of cell migration	BP	direct assay
positive regulation of cell population proliferation	BP	direct assay
positive regulation of gene expression	BP	direct assay
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	BP	direct assay
termination of RNA polymerase II transcription	BP	direct assay
transcription initiation at RNA polymerase II promoter	BP	direct assay
nucleoplasm	CC	direct assay
DNA-binding transcription factor activity, RNA polymerase II-specific	MF	direct assay
RNA binding	MF	high-throughput assay
RNA polymerase II cis-regulatory region sequence-specific DNA binding	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 1,187 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAZ	KIF22	Q14807	844
MAZ	CLCNKA	P51800	658
MAZ	ZSCAN1	Q8NBB4	658
MAZ	RNF4	P78317	655
MAZ	PAGR1	Q9BTK6	628
MAZ	MYC	P01106	617
MAZ	KCTD13	Q8WZ19	598
MAZ	KRAS	P01116	584
MAZ	CLCNKB	P51801	582
MAZ	BACH2	Q9BYV9	567
MAZ	MAX	P25912	566
MAZ	PPT2	Q9UMR5	552
MAZ	HIRIP3	Q9BW71	547
MAZ	DOC2A	Q14183	538
MAZ	POU3F2	P20265	537

IntAct

Human interaction partners of MAZ in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

17 partners by confidence:

Partner	Interaction type	MIscore	Records
APOD	physical association	0.590	2
DCC	physical association	0.510	4
CCL22	physical association	0.370	1
CCL24	physical association	0.370	1
CCL26	physical association	0.370	1
CSF2	physical association	0.370	1
CXCL2	physical association	0.370	1
CXCL5	physical association	0.370	1
IL15	physical association	0.370	1
IL17B	physical association	0.370	1
IL1RN	physical association	0.370	1
IL23A	physical association	0.370	1
IL25	physical association	0.370	1
IL31	physical association	0.370	1
LTA	physical association	0.370	1
TNFSF10	physical association	0.370	1
FOS	association	0.350	1

BioGRID (127 interactions; top human partners by supporting records): BPTF (Two-hybrid; 4 records), DCC (Reconstituted Complex; 3 records), APOD (Affinity Capture-MS; 2 records), FOS (Far Western; 2 records), JUN (Far Western; 2 records), KLF15 (Affinity Capture-MS; 2 records), MYC (Affinity Capture-MS; 2 records), AIM2 (Affinity Capture-MS), APEX1 (Proximity Label-MS), ARHGEF19 (Affinity Capture-MS), BRD1 (Affinity Capture-MS), CDC123 (Affinity Capture-MS), CDC14B (Proximity Label-MS), CDK7 (Affinity Capture-MS), CENPA (Proximity Label-MS)

SIGNOR signaling

2 signaling interactions:

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

Protein complexes (CORUM) (1)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

1 complexes by size:

Complex	Subunits	Members
c-Fos-c-Jun-SAF-1 complex	3	FOS, JUN, MAZ

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 17 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	5	40.0×	6e-06
cell-cell signaling	8	32.8×	3e-09
immune response	9	24.9×	3e-09
inflammatory response	9	20.0×	8e-09

Disease & clinical

Genetic variants

Variant evidence for MAZ: 103 ClinVar records (5 pathogenic / likely pathogenic); 2 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	79
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (5)

Showing all 5 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
4686087	NM_145239.3(PRRT2):c.1022G>C (p.Ter341Ser)	Likely pathogenic	criteria provided, single submitter	1
253371	GRCh37/hg19 16p11.2(chr16:29822338-29826328)x3	Pathogenic	criteria provided, single submitter	1
253372	GRCh37/hg19 16p11.2(chr16:29822338-29826328)x1	Pathogenic	criteria provided, single submitter	1
1077186	Single allele	Pathogenic	criteria provided, single submitter	1
992652	GRCh37/hg19 16p11.2(chr16:29443322-30320321)x3	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore MAZ’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 35 predictions of 477):

Position(s)	Effect	Δscore	Sites
16:29810075–29810076	acceptor_loss	1.0000	6
16:29806894–29806895	donor_loss	0.9900	5
16:29807870	donor_gain	0.9900
16:29808294–29808295	donor_loss	0.9900	5
16:29808568–29808569	acceptor_loss	0.9900	5
16:29808742–29808743	donor_loss	0.9900	5
16:29809538–29809539	acceptor_loss	0.9900	5
16:29807874	donor_gain	0.9800
16:29809539	acceptor_loss	0.9800
16:29809626	donor_gain	0.9800

AlphaMissense

1,313 missense substitutions predicted likely pathogenic (of 3,054 scored), across 295 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
H325	8	1.000	1.000
D290	8	0.999	1.000
H297	8	0.999	1.000
H301	8	0.999	1.000
H355	8	0.999	1.000
H409	8	0.999	1.000
H208	8	0.998	0.999
H360	8	0.998	1.000
H212	8	0.997	0.999
D320	8	0.997	1.000
H329	8	0.997	0.999
H384	8	0.996	0.999
H413	8	0.996	0.999
F288	8	0.993	1.000
D350	8	0.992	0.999
F346	8	0.991	1.000
H293	8	0.989	0.999
F199	8	0.985	1.000
H388	8	0.985	0.995
F375	8	0.984	1.000

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	4.92e-05
Liver Hepatocellular Carcinoma (validation)	unfavorable	0.000208
Thyroid Carcinoma (TCGA)	unfavorable	0.000958

Disease associations

OMIM: gene MIM:600999 | disease phenotypes: MIM:611913, MIM:602066

GenCC curated gene-disease

Mondo (2): proximal 16p11.2 microdeletion syndrome (MONDO:0012756), infantile convulsions and choreoathetosis (MONDO:0011178)

Orphanet (2): Proximal 16p11.2 microdeletion syndrome (Orphanet:261197), Infantile convulsions and choreoathetosis (Orphanet:31709)

GWAS associations

2 associations:

Study	Trait	p-value
GCST90002395_509	Mean platelet volume	7e-13
GCST003566_3	Multiple sclerosis	5e-7

MeSH disease descriptors

2 disease descriptors:

Descriptor	Name	Tree numbers
C579850	16p11.2 Deletion Syndrome *(supp.)*
C535522	Infantile convulsions and paroxysmal choreoathetosis, familial *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects expression	2
cobaltous chloride	decreases expression	2
Air Pollutants	increases abundance, increases expression, affects 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)

Via MONDO — disease-level, not drug-specific.

2 trials:

NCT	Phase	Status	Title
NCT04271332	Phase 2	UNKNOWN	Safety, Tolerability, and Efficacy of Arbaclofen in 16p11.2 Deletion
NCT01238250	Not specified	RECRUITING	Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight