MZF1

Summary

MZF1 (myeloid zinc finger 1, HGNC:13108) is a protein-coding gene on chromosome 19q13.43, encoding Myeloid zinc finger 1 (P28698). Binds to target promoter DNA and functions as a transcription regulator. It is a selective cancer dependency (DepMap: 17.5% of cell lines).

Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm.

Source: NCBI Gene 7593 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 126 total
• Cancer dependency (DepMap): dependent in 17.5% of screened cell lines
• Transcription factor: yes — 25 downstream targets (CollecTRI)
• MANE Select transcript: NM_198055

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13108
Approved symbol	MZF1
Name	myeloid zinc finger 1
Location	19q13.43
Locus type	gene with protein product
Status	Approved
Aliases	ZSCAN6, MZF1B, MZF-1, Zfp98
Ensembl gene	ENSG00000099326
Ensembl biotype	protein_coding
OMIM	194550
Entrez	7593

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 24 protein_coding, 3 retained_intron

ENST00000215057, ENST00000594108, ENST00000594234, ENST00000595245, ENST00000596039, ENST00000599369, ENST00000600004, ENST00000600048, ENST00000894435, ENST00000894436, ENST00000894437, ENST00000894438, ENST00000894439, ENST00000894440, ENST00000894441, ENST00000894442, ENST00000894443, ENST00000894444, ENST00000894445, ENST00000920163, ENST00000920164, ENST00000920165, ENST00000958727, ENST00000958728, ENST00000958729, ENST00000958730, ENST00000958731

RefSeq mRNA: 3 — MANE Select: NM_198055 NM_001267033, NM_003422, NM_198055

CCDS: CCDS12988, CCDS59427

Canonical transcript exons

ENST00000215057 — 6 exons

Exon	Start	End
ENSE00000897192	58570344	58570527
ENSE00000897205	58569277	58569397
ENSE00001005594	58570994	58571429
ENSE00001005597	58573055	58573335
ENSE00003529532	58569516	58569586
ENSE00003893808	58561932	58563504

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 98.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.5188 / max 155.8396, expressed in 1778 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182978	4.7191	1621
182979	2.0697	1137
182980	1.7300	915

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	98.06	gold quality
right uterine tube	UBERON:0001302	97.81	gold quality
right lobe of thyroid gland	UBERON:0001119	94.78	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.14	gold quality
pituitary gland	UBERON:0000007	94.08	gold quality
left lobe of thyroid gland	UBERON:0001120	94.04	gold quality
adenohypophysis	UBERON:0002196	93.51	gold quality
thyroid gland	UBERON:0002046	93.27	gold quality
cerebellar hemisphere	UBERON:0002245	93.11	gold quality
cerebellar cortex	UBERON:0002129	93.00	gold quality
right adrenal gland	UBERON:0001233	92.58	gold quality
right adrenal gland cortex	UBERON:0035827	92.50	gold quality
cerebellum	UBERON:0002037	92.30	gold quality
lower esophagus mucosa	UBERON:0035834	91.91	gold quality
left ovary	UBERON:0002119	91.87	gold quality
body of stomach	UBERON:0001161	91.85	gold quality
right ovary	UBERON:0002118	91.76	gold quality
metanephros cortex	UBERON:0010533	91.61	gold quality
endocervix	UBERON:0000458	91.19	gold quality
left uterine tube	UBERON:0001303	91.16	gold quality
left adrenal gland	UBERON:0001234	91.12	gold quality
adrenal cortex	UBERON:0001235	91.12	gold quality
body of uterus	UBERON:0009853	91.07	gold quality
left adrenal gland cortex	UBERON:0035825	91.05	gold quality
fundus of stomach	UBERON:0001160	90.81	gold quality
small intestine Peyer’s patch	UBERON:0003454	90.56	gold quality
tendon of biceps brachii	UBERON:0008188	90.56	gold quality
epithelium of bronchus	UBERON:0002031	90.21	gold quality
mucosa of transverse colon	UBERON:0004991	90.09	gold quality
apex of heart	UBERON:0002098	90.07	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

25 targets.

Target	Regulation
AP1
AXL	Unknown
BLMH	Activation
CCN2	Activation
CCN3	Activation
CD320	Activation
CD34	Unknown
CDH2	Unknown
EIF2AK1	Unknown
ERCC1	Repression
FGF2	Unknown
KIR3DL1
MMP2	Repression
MS4A3
MUC1	Activation
MYB	Unknown
MZF1
PADI1	Unknown
PIK3R3	Unknown
PKD1	Activation
PRKCA	Unknown
SELL
SERPINA3
ST6GALNAC4	Activation
TERT	Repression

JASPAR motifs

Motif	Name	Family
MA0056.1	MZF1	More than 3 adjacent zinc fingers
MA0056.2	MZF1	More than 3 adjacent zinc fingers
MA0056.3	MZF1	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:8114711

Upstream regulators (CollecTRI, top): MYB, MZF1

miRNA regulators (miRDB)

8 targeting MZF1, 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-6825-5P	99.96	69.81	3431
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-4520-3P	98.75	66.55	963
HSA-MIR-4256	96.22	67.70	669
HSA-MIR-11181-5P	96.12	67.46	665
HSA-MIR-6753-5P	94.70	64.08	470

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 17.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 37)

• MZF-1 and FHL3 formed a complex of high molecular mass with some additional proteins in the nucleus. Transcriptional repression of FcepsilonRI by MZF-1 required FHL3 as a cofactor. (PMID:15453830)
• Sp1 and MZF1 are involved in the transcriptional regulation of the hST6GalNAc IV gene in Jurkat T cells (PMID:15528990)
• MZF1 are important transcription factors regulating N-cadherin promoter activity and expression in osteoblasts. (PMID:15541732)
• a transcription factor, MZF-1, was revealed to interact with LDOC1 and enhance the activity of LDOC1 for inducing apoptosis (PMID:15670815)
• PKCalpha expression may be modulated by Elk-1 and MZF-1 at the transcriptional level. (PMID:16297876)
• Structure of MZF1 SCAN domain homodimer has been determined and provides an initial view of the recognition elements that govern dimerization for this large family of transcription factors. (PMID:16950398)
• MZF1 and Sp1/Sp3 binding to the promoter region drive the PADI1 expression in keratinocytes (PMID:17851584)
• These data suggest that APO can enhance the biosynthesis and release of FGF-2 through the activation of the MZF-1 transcription factor in striatal astrocytes (PMID:19196427)
• Taken together, this is the first study to show that MZF1 induces invasion and in vivo metastasis in colorectal and cervical cancer, at least in part by regulating Axl gene expression. (PMID:20145042)
• association between the expression of PKCalpha and the expression of the transcription factors Elk-1 and MZF-1 in breast cancer cell lines (PMID:22242952)
• signaling network activates the transcription of cathepsin B gene via myeloid zinc finger-1 transcription factor that binds to an ErbB2-responsive enhancer element in the first intron of cathepsin B (PMID:22464443)
• Expression levels of Elk-1 and PKCalpha were the highest in 5637 cells, but the MZF-1 expression observed in all five cell lines showed no significant difference. (PMID:22559731)
• This study shows that MZF-1 represses MMP-2 transcription and suggests that this repression may be linked to inhibition of human cervical cancer cell migration and metastasis. (PMID:22846578)
• Selected single nucleotide polymorphisms in the MZF-1 gene exert a minor effect on the risk of Alzheimer’s disease. (PMID:23241556)
• p55PIK is transcriptionally activated by MZF1, resulting in increased proliferation of colorectal cancer cells (PMID:23509792)
• MZF1-mediated MYC expression may promote tumor progression, resulting in poor outcomes in cases of lung adenocarcinoma with low-wild-type-LKB1 tumors. (PMID:24793789)
• MZF-1 binds to and positively regulates the GAPDH promoter. (PMID:25065746)
• Data indicate that elevated miR-492 expression in prostate tumors that resulted in diminished myeloid zinc-finger 1 (MZF-1) and ferroportin (FPN). (PMID:25284586)
• Data suggest that induction of foxhead box M1(FOXM1) by E6 oncoprotein through the transcription factors MZF1/NKX2-1 axis may be responsible for human papillomavirus 16/18-mediated tumor progression. (PMID:25425970)
• our results revealed that the loss of nuclear expression of MZF1 in oral squamous cell carcinoma (OSCC) samples can predict the progression of OSCC and the survival of OSCC patients in Taiwan (PMID:25877752)
• The aberrant decreases in Ik-1 and MZF1 contribute significantly to the pathogenesis of NPM-ALK(+) T-cell lymphoma through the upregulation of IGF-IR expression. (PMID:25884514)
• our results argue that MZF-1 regulates the CTGF and NOV genes in the hematopoietic compartment, and may be involved in their respective functions in the stroma. (PMID:25899830)
• Here we discuss the regulation of MZF1 that mediated its recruitment and activation in cancer, concentrating on posttranslational modification by phosphorylation, and sumoylation (PMID:25903835)
• These findings suggest that PKCalpha expression in HCC could be stimulated by the formation of MZF-1/Elk-1 complex, which directly binds to the PKCalpha promoter. (PMID:26010542)
• miR-337-3p directly binds to the MMP-14 promoter to repress MZF1-facilitatd MMP-14 expression, thus suppressing the progression of gastric cancer (PMID:27259238)
• PAX2 is involved in the carcinogenesis of endometrial cancer by stimulating cell growth and promoting cell motility; the overexpression of PAX2 in endometrial cancer is regulated by promoter hypermethylation and the transcription factor MZF1 (PMID:27764784)
• MZF1 has a role in cellular migration of gastric cancer cells via promoting an increase in intracellular SMAD4 levels. This study might provide new evidence for the molecular basis of the tumor suppressive effect of the MZF1-SMAD4 axis, a new therapeutic target in advanced human gastric cancer. (PMID:27922669)
• SIRT6 over-expression establishes a condition whereby reconfiguration of the Hexokinase 2 promoter chromatin structure makes it receptive to interaction with MZF1/SIRT6 complex, thereby favouring a regulatory state conducive to diminished transcription (PMID:28478957)
• Tumor antigen PRAME is up-regulated by MZF1 in cooperation with DNA hypomethylation in melanoma cells. (PMID:28634046)
• TGF-beta1-induced CK17 enhances cancer stem cell-like properties rather than epithelial-mesenchymal transition in promoting cervical cancer metastasis via the ERK1/2-MZF1 signaling pathway. (PMID:28703907)
• MZF1 gene expression was not significantly correlated with PYROXD2 protein expression in the samples of resected tumor tissues, which revealed that the PYROXD2 promoter transcription activity was determined by the aggregated effect of numerous transcription factors. This finding may be helpful in understanding the underlying mechanism which regulates the PYROXD2 expression. (PMID:29048625)
• Mechanistically, FTO enhanced MZF1 expression by reducing m(6)A levels and mRNA stability in MZF1 mRNA transcript, leading to oncogenic functions. (PMID:29842885)
• Metallothionein 2A (MT2A)/myeloid zinc-finger 1 (MZF1) may serve as a prognostic marker and a therapeutic target for human gastric cancer. (PMID:30301827)
• Exogenous expression of the acidic domain of MZF1 repressed the binding of endogenous MZF1 to IGF1R promoter via blocking the interaction with ETS-like gene 1 (ELK1). This blockage not only caused MZF1 protein degradation, but also restrained ELK1 nuclear localization in high-level MZF1-expressing TNBC cells. MZF1, but not ELK1, was necessary for the retention of mesenchymal phenotype by repressing IGF1R promoter activity (PMID:31366500)
• Cigarette smoke modulates binding of the transcription factor MZF1 to the VEGF promoter and regulates VEGF expression in dependence of genetic variation SNP 405. (PMID:32449233)
• MZF1 mediates oncogene-induced senescence by promoting the transcription of p16(INK4A). (PMID:34773072)
• LncRNA SLC1A5-AS/MZF1/ASCT2 Axis Contributes to Malignant Progression of Hepatocellular Carcinoma. (PMID:38058065)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Mzf1	ENSMUSG00000030380
rattus_norvegicus	Mzf1	ENSRNOG00000027550

Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631), ZNF3 (ENSG00000166526)

Protein

Protein identifiers

Myeloid zinc finger 1 — P28698 (reviewed: P28698)

Alternative names: Zinc finger and SCAN domain-containing protein 6, Zinc finger protein 42

All UniProt accessions (3): P28698, M0R1U5, M0R2C0

UniProt curated annotations — full annotation on UniProt →

Function. Binds to target promoter DNA and functions as a transcription regulator. Regulates transcription from the PADI1 and CDH2 promoter. May be one regulator of transcriptional events during hemopoietic development.

Subunit / interactions. Homodimer.

Subcellular location. Nucleus.

Tissue specificity. Preferentially expressed in differentiating myeloid cells. Detected in osteoblasts.

Induction. By retinoic acid.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

Isoforms (3)

UniProt ID	Names	Canonical?
P28698-1	MZF1A, MZF1B	yes
P28698-2	MZF1B-C
P28698-3	3

RefSeq proteins (3): NP_001253962, NP_003413, NP_932172* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003309	SCAN_dom	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR038269	SCAN_sf	Homologous_superfamily

Pfam: PF00096, PF02023

UniProt features (39 total): zinc finger region 13, sequence variant 5, helix 5, splice variant 4, turn 3, region of interest 2, compositionally biased region 2, chain 1, domain 1, modified residue 1, cross-link 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2FI2	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P28698-F1	66.89	0.07

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 111, 723

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 127 (showing top): ROVERSI_GLIOMA_COPY_NUMBER_UP, MODULE_70, MAYBURD_RESPONSE_TO_L663536_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, MORF_PRKDC, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, BASAKI_YBX1_TARGETS_DN, MORF_RFC1, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_PROTEIN_HOMODIMERIZATION_ACTIVITY, STAT5A_02, MORF_EIF4E, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING

GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (13): transcription cis-regulatory region binding (GO:0000976), 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 repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein homodimerization activity (GO:0042803), DNA binding (GO:0003677), protein binding (GO:0005515), identical protein binding (GO:0042802), metal ion binding (GO:0046872), sequence-specific double-stranded DNA binding (GO:1990837)

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	4
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
negative regulation of DNA-templated transcription	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription repressor activity	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
transcription cis-regulatory region binding	1
regulation of DNA-templated transcription	1
transcription regulator activity	1
transition metal ion binding	1
identical protein binding	1
protein dimerization activity	1
nucleic acid binding	1
binding	1
protein binding	1
cation binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nuclear lumen	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1562 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MZF1	ZNF202	O95125	787
MZF1	PLVAP	Q9BX97	710
MZF1	TGFB1	P01137	590
MZF1	MYC	P01106	588
MZF1	USF1	P22415	561
MZF1	NKX2-5	P52952	518
MZF1	GATA1	P15976	505
MZF1	JUN	P05412	502
MZF1	SCAND1	P57086	494
MZF1	POU2F1	P14859	477
MZF1	EZH2	Q15910	473
MZF1	INSM1	Q01101	467
MZF1	ZNF174	Q15697	463
MZF1	POU3F2	P20265	458
MZF1	MAFB	Q9Y5Q3	454

IntAct

8 interactions, top by confidence:

A	B	Type	Score
MZF1	CDK6	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
CDK4	MZF1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
MZF1	LGALS1	psi-mi:“MI:0915”(physical association)	0.400
ZSCAN1	ZNF213	psi-mi:“MI:0914”(association)	0.350
MZF1	ZNF213	psi-mi:“MI:0914”(association)	0.350
MZF1	RNASEH1	psi-mi:“MI:0914”(association)	0.350

BioGRID (36): MZF1 (Affinity Capture-MS), MZF1 (Two-hybrid), MZF1 (Affinity Capture-MS), MZF1 (Affinity Capture-RNA), MZF1 (Proximity Label-MS), MZF1 (Affinity Capture-RNA), MTSS1 (Affinity Capture-RNA), MZF1 (Protein-RNA), MZF1 (Affinity Capture-Western), STUB1 (Affinity Capture-Western), SCAND1 (Two-hybrid), SCAND1 (Affinity Capture-Western), NUDT12 (Affinity Capture-MS), MZF1 (Affinity Capture-MS), ZNF213 (Affinity Capture-MS)

ESM2 similar proteins: A1L0T3, A1L4H1, A6QNY1, D3YZF7, O95428, P28698, P30203, P55068, P55106, P59222, P98162, Q04756, Q14767, Q28019, Q28062, Q28256, Q28343, Q28670, Q3U515, Q4G0T1, Q5F378, Q5HZW5, Q61003, Q61361, Q6H9L7, Q6KF10, Q6PGE4, Q6QNF4, Q7TQH7, Q7Z4F1, Q86T13, Q86VR7, Q86VZ4, Q8BV57, Q8BZE1, Q8CB67, Q8VCP9, Q8WTU2, Q91V98, Q96DN2

Diamond homologs: A0A9P4XV22, A2ANX9, B1H2Q6, O62836, P08048, P0CJ78, P10925, P17010, P17012, P20662, P27705, P28698, P52288, P80944, Q01611, Q03081, Q03125, Q0VDT2, Q29419, Q3U3I9, Q52V16, Q567C6, Q5U2Z0, Q6B4Z5, Q7RTV3, Q95LI3, Q966L8, Q96EG3, Q9UDV6, Q9UL36, Q9Y462, A1YEP8, A1YEQ3, A1YEV9, A1YFW2, A1YFW6, A1YG26, A1YG48, A1YG60, A1YGJ4

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
MZF1	“up-regulates quantity by expression”	CCN2	“transcriptional regulation”
MZF1	“up-regulates quantity by expression”	CCN3	“transcriptional regulation”
MZF1	“up-regulates quantity by expression”	PRKCA	“transcriptional regulation”
SCAND1	“up-regulates activity”	MZF1	binding
PAK4	“up-regulates activity”	MZF1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	114
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1645 predictions. Top by Δscore:

Variant	Effect	Δscore
19:58569511:CTTA:C	donor_loss	1.0000
19:58569512:TTACC:T	donor_loss	1.0000
19:58569513:TACC:T	donor_loss	1.0000
19:58569515:C:CA	donor_loss	1.0000
19:58569587:C:CC	acceptor_gain	1.0000
19:58573387:T:TA	donor_gain	1.0000
19:58569514:A:AC	donor_gain	0.9900
19:58569515:C:CC	donor_gain	0.9900
19:58569584:AAT:A	acceptor_gain	0.9900
19:58569585:AT:A	acceptor_gain	0.9900
19:58572552:C:A	donor_gain	0.9900
19:58572783:C:A	donor_gain	0.9900
19:58573245:ACT:A	donor_gain	0.9900
19:58573246:CTC:C	donor_gain	0.9900
19:58573371:A:AC	donor_gain	0.9900
19:58573372:C:CC	donor_gain	0.9900
19:58573372:CTT:C	donor_gain	0.9900
19:58573494:T:TA	donor_gain	0.9900
19:58573534:T:A	donor_gain	0.9900
19:58569393:CATCT:C	acceptor_gain	0.9800
19:58569582:GAAAT:G	acceptor_gain	0.9800
19:58570340:TCA:T	donor_loss	0.9800
19:58570343:CCTGA:C	donor_loss	0.9800
19:58570988:A:AC	donor_gain	0.9800
19:58570989:C:CC	donor_gain	0.9800
19:58570989:CTCA:C	donor_gain	0.9800
19:58571428:CC:C	acceptor_gain	0.9800
19:58571429:CC:C	acceptor_gain	0.9800
19:58571430:C:CC	acceptor_gain	0.9800
19:58572371:T:TA	donor_gain	0.9800

AlphaMissense

4750 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:58562207:G:C	F690L	0.999
19:58562207:G:T	F690L	0.999
19:58562209:A:G	F690L	0.999
19:58562291:A:C	F662L	0.999
19:58562291:A:T	F662L	0.999
19:58562293:A:G	F662L	0.999
19:58562375:G:C	F634L	0.999
19:58562375:G:T	F634L	0.999
19:58562376:A:G	F634S	0.999
19:58562377:A:G	F634L	0.999
19:58562543:G:C	F578L	0.999
19:58562543:G:T	F578L	0.999
19:58562545:A:G	F578L	0.999
19:58563014:G:C	F421L	0.999
19:58563014:G:T	F421L	0.999
19:58563016:A:G	F421L	0.999
19:58563098:G:C	F393L	0.999
19:58563098:G:T	F393L	0.999
19:58563100:A:G	F393L	0.999
19:58563182:G:C	F365L	0.999
19:58563182:G:T	F365L	0.999
19:58563184:A:G	F365L	0.999
19:58562123:G:C	F718L	0.998
19:58562123:G:T	F718L	0.998
19:58562125:A:G	F718L	0.998
19:58562180:A:C	H699Q	0.998
19:58562180:A:T	H699Q	0.998
19:58562208:A:G	F690S	0.998
19:58562264:G:C	H671Q	0.998
19:58562264:G:T	H671Q	0.998

dbSNP variants (sampled 300 via entrez): RS1000070536 (19:58562848 C>G,T), RS1000370971 (19:58568054 T>C), RS1000873365 (19:58562380 C>A,G,T), RS1000967146 (19:58568301 C>A,G,T), RS1000998235 (19:58567928 C>G,T), RS1001133045 (19:58572926 C>G,T), RS1001177453 (19:58572419 TGGG>T,TGG,TGGGG), RS1001290529 (19:58572561 C>A,T), RS1001479620 (19:58573613 G>A), RS1001878600 (19:58567814 A>G), RS1002029792 (19:58566771 C>T), RS1002069146 (19:58572400 G>T), RS1002628253 (19:58564073 G>A), RS1002730348 (19:58570236 T>C,G), RS1003424133 (19:58575131 C>G,T)

Disease associations

OMIM: gene MIM:194550 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases methylation	5
Tetrachlorodibenzodioxin	increases expression	2
Zinc	affects cotreatment, increases expression, affects expression	2
TAK-243	increases sumoylation	1
deoxynivalenol	decreases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
isobutyl alcohol	decreases expression, increases abundance, affects cotreatment	1
beta-methylcholine	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
PCI 5002	affects cotreatment, increases 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	increases expression	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation, affects methylation	1
Calcitriol	affects binding, increases reaction, increases activity, increases expression, increases response to substance	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Estradiol	decreases expression	1
Gallic Acid	decreases expression	1
Gasoline	increases expression, decreases expression, affects cotreatment, affects expression, increases abundance	1
Polycyclic Aromatic Hydrocarbons	increases expression, decreases expression, affects cotreatment, affects expression, increases abundance	1
Selenium	increases expression	1
Smoke	decreases expression	1
Tetradecanoylphorbol Acetate	affects cotreatment, affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	increases expression	1
Cyclosporine	decreases methylation	1
1-Butanol	increases abundance, affects cotreatment, affects expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_XV71	HEK293 eGFP-MZF1	Transformed cell line	Female

Clinical trials (associated diseases)

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