ZNF384

Summary

ZNF384 (zinc finger protein 384, HGNC:11955) is a protein-coding gene on chromosome 12p13.31, encoding Zinc finger protein 384 (Q8TF68). Transcription factor that binds the consensus DNA sequence [GC]AAAAA.

This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewing’s sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7.

Source: NCBI Gene 171017 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 80 total
• Transcription factor: yes — 25 downstream targets (CollecTRI)
• MANE Select transcript: NM_001385745

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11955
Approved symbol	ZNF384
Name	zinc finger protein 384
Location	12p13.31
Locus type	gene with protein product
Status	Approved
Aliases	CAGH1A, CIZ, NMP4, NP
Ensembl gene	ENSG00000126746
Ensembl biotype	protein_coding
OMIM	609951
Entrez	171017

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 14 protein_coding, 4 retained_intron

ENST00000319770, ENST00000355772, ENST00000361959, ENST00000396801, ENST00000417772, ENST00000436774, ENST00000535485, ENST00000537248, ENST00000537383, ENST00000538829, ENST00000540915, ENST00000542351, ENST00000542519, ENST00000542605, ENST00000544482, ENST00000545946, ENST00000683879, ENST00000710399

RefSeq mRNA: 66 — MANE Select: NM_001385745 NM_001039920, NM_001135734, NM_001385739, NM_001385740, NM_001385741, NM_001385742, NM_001385743, NM_001385744, NM_001385745, NM_001385746, NM_001385747, NM_001385748, NM_001385749, NM_001385750, NM_001385751, NM_001385752, NM_001385753, NM_001385754, NM_001385755, NM_001385756, NM_001385757, NM_001385758, NM_001385759, NM_001385760, NM_001385761, NM_001385762, NM_001385763, NM_001385764, NM_001385765, NM_001385766, NM_001385767, NM_001385768, NM_001385769, NM_001385770, NM_001385771, NM_001385772, NM_001385773, NM_001385774, NM_001385775, NM_001385776, NM_001385777, NM_001385778, NM_001385779, NM_001385780, NM_001385781, NM_001385782, NM_001385783, NM_001385784, NM_001385785, NM_001385786, NM_001385787, NM_001385788, NM_001385789, NM_001385790, NM_001385791, NM_001385792, NM_001385793, NM_001385794, NM_001385795, NM_001385796, NM_001385797, NM_001385798, NM_001385799, NM_001385800, NM_001385801, NM_133476

CCDS: CCDS31732, CCDS44817, CCDS8557, CCDS91645

Canonical transcript exons

ENST00000683879 — 12 exons

Exon	Start	End
ENSE00001183028	6672350	6672532
ENSE00001595476	6670760	6670838
ENSE00001671269	6677167	6677259
ENSE00001675944	6678946	6679183
ENSE00001730592	6666477	6668115
ENSE00001734868	6669031	6669189
ENSE00001761841	6678127	6678460
ENSE00001783848	6678663	6678710
ENSE00003361575	6673216	6673440
ENSE00003920090	6689098	6689375
ENSE00004011897	6688167	6688226
ENSE00004011898	6679455	6679525

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 94.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.7729 / max 125.4200, expressed in 1811 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
129160	9.5132	1781
129162	5.9474	1717
129158	1.8687	1159
129164	0.7938	427
129163	0.7874	468
129161	0.6771	402
129157	0.5248	309
129159	0.5023	285
129156	0.1581	40

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of uterus	UBERON:0009853	94.82	gold quality
right lobe of thyroid gland	UBERON:0001119	94.80	gold quality
right ovary	UBERON:0002118	94.69	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.44	gold quality
left lobe of thyroid gland	UBERON:0001120	94.41	gold quality
metanephros cortex	UBERON:0010533	94.33	gold quality
left uterine tube	UBERON:0001303	94.29	gold quality
right adrenal gland cortex	UBERON:0035827	94.26	gold quality
left ovary	UBERON:0002119	94.21	gold quality
right adrenal gland	UBERON:0001233	94.11	gold quality
granulocyte	CL:0000094	94.08	gold quality
descending thoracic aorta	UBERON:0002345	94.06	gold quality
stromal cell of endometrium	CL:0002255	94.05	gold quality
smooth muscle tissue	UBERON:0001135	93.87	gold quality
endocervix	UBERON:0000458	93.86	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.80	gold quality
olfactory bulb	UBERON:0002264	93.77	silver quality
body of stomach	UBERON:0001161	93.75	gold quality
left adrenal gland	UBERON:0001234	93.69	gold quality
right uterine tube	UBERON:0001302	93.67	gold quality
thyroid gland	UBERON:0002046	93.60	gold quality
right coronary artery	UBERON:0001625	93.55	gold quality
popliteal artery	UBERON:0002250	93.52	gold quality
tibial artery	UBERON:0007610	93.51	gold quality
cortical plate	UBERON:0005343	93.49	gold quality
left adrenal gland cortex	UBERON:0035825	93.41	gold quality
aorta	UBERON:0000947	93.39	gold quality
cerebellar hemisphere	UBERON:0002245	93.38	gold quality
thoracic aorta	UBERON:0001515	93.34	gold quality
cerebellar cortex	UBERON:0002129	93.31	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.98

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

25 targets.

Target	Regulation
ADAMTS4
AFP
ALB
BDNF
BGLAP	Repression
CDKN2A
COL1A1
EFNB2
GFAP
GSTA2
HES1
IFNG
IL4
KDR
MMP1	Activation
MMP13	Unknown
NPTX1
PDLIM7
PTH
RUNX2	Repression
SDC4
SP1
TNF
TNFSF11
WNT2

JASPAR motifs

Motif	Name	Family
MA1125.1	ZNF384	More than 3 adjacent zinc fingers
MA1125.2	ZNF384	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:11149472

miRNA regulators (miRDB)

144 targeting ZNF384, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-LET-7A-2-3P	99.87	70.53	1921

Literature-anchored findings (GeneRIF, showing 26)

• expression in pelvic lymph nodes and primary tumors in early stage cervical carcinomas (PMID:11956602)
• The transcription factor gene CIZ/NMP4 is recurrently involved in acute leukemia through fusion with either EWSR1 or TAF15. (PMID:12359745)
• The CIZ protein(also known as ZNF384)was involved and rearrangemented in acute leukemia. (PMID:15990865)
• These results suggest that caspase-mediated degradation may represent a novel regulatory mechanism that controls TAF15 and TAF15-CIZ/NMP4 activities. (PMID:19426707)
• Rare translocation t(12;17)(p13;q12), This translocation has been reported in 25 cases and its putative molecular consequence, the formation of a TAF15-ZNF384 fusion gene, in only six cases. (PMID:21504714)
• nuclear matrix protein 4 overexpression increased Aquaporin 5 mRNA expression by 2.5-fold in HEK293 cells (PMID:27058007)
• the frequency of ZNF384 gene rearrangement in pediatric precursor B cell ALL is approximately 3%. (PMID:27392123)
• Our observations indicate that ZNF384-related fusion genes consist of a distinct subgroup of B-cell precursor acute lymphoblastic leukemia with a characteristic immunophenotype, while the clinical features depend on the functional properties of individual fusion partners. (PMID:27634205)
• Ectopic expression of EP300-ZNF384 and CREBBP-ZNF384 fusion altered differentiation of mouse hematopoietic stem and progenitor cells and also potentiated oncogenic transformation in vitro.our results indicate that gene fusion is a common class of genomic abnormalities in childhood ALL and that recurrent translocations involving EP300 and CREBBP may cause epigenetic deregulation with potential for therapeutic targeting. (PMID:27903646)
• EP300-ZNF384 mediates GATA3 gene expression and may be involved in the acquisition of the HSC gene expression signature and characteristic immunophenotype in B-cell precursor acute lymphoblastic leukemia cells. (PMID:28378055)
• A better overview of the incidence of EP300-ZNF384 patients that shows that they have a distinct gene signature with concurrent up-regulation of JAK-STAT pathway, reduced expression of B-cell regulators and reduced DNA repair capacity. (PMID:29531323)
• Clinical characteristics and outcomes of B-ALL with ZNF384 rearrangements: a retrospective analysis by the Ponte di Legno Childhood ALL Working Group. (PMID:33692463)
• Systematic application of fluorescence in situ hybridization and immunophenotype profile for the identification of ZNF384 gene rearrangements in B cell acute lymphoblastic leukemia. (PMID:33988307)
• A novel class of ZNF384 aberrations in acute leukemia. (PMID:34529760)
• Zinc finger protein 384 enhances colorectal cancer metastasis by upregulating MMP2. (PMID:35029289)
• ZNF384 Fusion Oncoproteins Drive Lineage Aberrancy in Acute Leukemia. (PMID:35247902)
• Zinc finger protein 384 (ZNF384) impact on childhood mixed phenotype acute leukemia and B-cell precursor acute lymphoblastic leukemia. (PMID:35921545)
• Epigenetic activation of the FLT3 gene by ZNF384 fusion confers a therapeutic susceptibility in acute lymphoblastic leukemia. (PMID:36104354)
• Conditional Loss of Nmp4 in Mesenchymal Stem Progenitor Cells Enhances PTH-Induced Bone Formation. (PMID:36321253)
• ZNF384 rearrangement is the most frequent genetic lesion in adult PH-negative and Ph-like-negative B-other acute lymphoblastic leukemia. Biological and clinical findings. (PMID:36533589)
• Clinical significance and biofunction of ZNF384 in renal cell carcinoma discovered by data mining and experimentation. (PMID:36882592)
• [Clinical characteristics and outcomes of childhood B-ALL with ZNF384 and MEF2D rearrangements]. (PMID:37544723)
• A Transcription Factor ZNF384, Regulated by LINC00265, Activates the Expression of IFI30 to Stimulate Malignant Progression in Glioma. (PMID:38141017)
• ZNF384 fusion transcript levels for measurable residual disease monitoring in adult B-cell acute lymphoblastic leukemia. (PMID:38287528)
• EP300-ZNF384 transactivates IL3RA to promote the progression of B-cell acute lymphoblastic leukemia. (PMID:38566191)
• RGS1 and CREB5 are direct and common transcriptional targets of ZNF384-fusion proteins. (PMID:39015025)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf384a	ENSDARG00000001015
danio_rerio	znf384b	ENSDARG00000089032
mus_musculus	Zfp384	ENSMUSG00000038346
rattus_norvegicus	Zfp384	ENSRNOG00000017066

Paralogs (36): ZBTB32 (ENSG00000011590), SNAI2 (ENSG00000019549), PRDM1 (ENSG00000057657), PRDM6 (ENSG00000061455), ZNF76 (ENSG00000065029), PATZ1 (ENSG00000100105), MAZ (ENSG00000103495), ZBTB16 (ENSG00000109906), ZNF451 (ENSG00000112200), ZBTB45 (ENSG00000119574), ZNF410 (ENSG00000119725), SNAI1 (ENSG00000124216), 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

Zinc finger protein 384 — Q8TF68 (reviewed: Q8TF68)

Alternative names: CAG repeat protein 1, CAS-interacting zinc finger protein, Nuclear matrix transcription factor 4, Trinucleotide repeat-containing gene 1 protein

All UniProt accessions (11): Q8TF68, A0A804HJE2, A0AA34QVS9, E9PHB3, F5GYZ1, F5H0D6, F5H105, F5H3Z9, F5H6N8, F5H8L7, R4GMR4

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that binds the consensus DNA sequence [GC]AAAAA. Seems to bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1.

Subunit / interactions. Interacts with BCAR1.

Subcellular location. Nucleus.

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

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TF68-1	1	yes
Q8TF68-2	2
Q8TF68-3	3

RefSeq proteins (66): NP_001035009, NP_001129206, NP_001372668, NP_001372669, NP_001372670, NP_001372671, NP_001372672, NP_001372673, NP_001372674, NP_001372675, NP_001372676, NP_001372677, NP_001372678, NP_001372679, NP_001372680, NP_001372681, NP_001372682, NP_001372683, NP_001372684, NP_001372685, NP_001372686, NP_001372687, NP_001372688, NP_001372689, NP_001372690, NP_001372691, NP_001372692, NP_001372693, NP_001372694, NP_001372695, NP_001372696, NP_001372697, NP_001372698, NP_001372699, NP_001372700, NP_001372701, NP_001372702, NP_001372703, NP_001372704, NP_001372705, NP_001372706, NP_001372707, NP_001372708, NP_001372709, NP_001372710, NP_001372711, NP_001372712, NP_001372713, NP_001372714, NP_001372715, NP_001372716, NP_001372717, NP_001372718, NP_001372719, NP_001372720, NP_001372721, NP_001372722, NP_001372723, NP_001372724, NP_001372725, NP_001372726, NP_001372727, NP_001372728, NP_001372729, NP_001372730, NP_597733 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR050758	Znf_C2H2-type	Family

Pfam: PF00096

UniProt features (18 total): zinc finger region 8, splice variant 3, region of interest 2, compositionally biased region 2, chain 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TF68-F1	60.72	0.06

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): 214

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (1): regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (4): zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), 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
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
transition metal ion binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1830 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF384	BCAR1	P56945	802
ZNF384	DUX4L2	P0CJ85	791
ZNF384	MEF2D	Q14814	754
ZNF384	EP300	Q09472	639
ZNF384	ETV6	P41212	630
ZNF384	COL1A1	P02452	628
ZNF384	TCF3	P15883	608
ZNF384	PBX1	P40424	588
ZNF384	KMT2A	Q03164	570
ZNF384	ADAMTS2	O95450	547
ZNF384	EIF3K	Q9UBQ5	546
ZNF384	CREBBP	Q92793	532
ZNF384	PAX5	Q02548	520
ZNF384	SMARCA2	P51531	517
ZNF384	CRLF2	Q9HC73	515

IntAct

25 interactions, top by confidence:

A	B	Type	Score
MED9	MED19	psi-mi:“MI:0914”(association)	0.790
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
ZNF384	MBD1	psi-mi:“MI:0915”(physical association)	0.370
CEBPE	ZNF384	psi-mi:“MI:0915”(physical association)	0.370
HOXC9	ZNF384	psi-mi:“MI:0915”(physical association)	0.370
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
SOX2	DDX39A	psi-mi:“MI:0914”(association)	0.350
GRHL1	POLRMT	psi-mi:“MI:0914”(association)	0.350
SSRP1	DDX39A	psi-mi:“MI:0914”(association)	0.350
RPL19		psi-mi:“MI:0914”(association)	0.350
LIN28A	FBLL1	psi-mi:“MI:0914”(association)	0.350
RPS9	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
CCDC140	NVL	psi-mi:“MI:0914”(association)	0.350
ZNF384	RPS10	psi-mi:“MI:0914”(association)	0.350
OPTN	YWHAQ	psi-mi:“MI:0914”(association)	0.350
H1-1	POLRMT	psi-mi:“MI:0914”(association)	0.350
KRR1	ZNF316	psi-mi:“MI:0914”(association)	0.350
PYM1	POLRMT	psi-mi:“MI:0914”(association)	0.350
RPL17	ZNF316	psi-mi:“MI:0914”(association)	0.350
ATF3	ILVBL	psi-mi:“MI:0914”(association)	0.350
SOX2	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
AIM2	DDX39A	psi-mi:“MI:0914”(association)	0.350
PYHIN1	SUPT5H	psi-mi:“MI:0914”(association)	0.350

BioGRID (87): TUBA3C (Affinity Capture-MS), TRIP6 (Affinity Capture-MS), ZNF384 (Affinity Capture-MS), TUBA3C (Affinity Capture-MS), TRIP6 (Affinity Capture-MS), ZNF384 (Affinity Capture-MS), ZNF384 (Affinity Capture-MS), ZNF384 (Two-hybrid), ZNF384 (Two-hybrid), ZNF384 (Proximity Label-MS), ZNF384 (Affinity Capture-MS), ZNF384 (Proximity Label-MS), ZNF384 (Affinity Capture-MS), ZNF384 (Two-hybrid), ZNF384 (Affinity Capture-MS)

ESM2 similar proteins: A6QQW0, B4F7E9, O15391, O43167, O62836, O70230, O70494, P08048, P15337, P17010, P17012, P18846, P20385, P25490, P27699, P36508, P52747, P79145, P81069, P81269, Q00420, Q00899, Q01147, Q01611, Q02447, Q03060, Q03061, Q06547, Q08DA8, Q0V8G2, Q1LYE3, Q1LZH5, Q1RMI3, Q4V8R6, Q52KB5, Q52V16, Q58DZ6, Q5XIU2, Q66K89, Q6B4Z5

Diamond homologs: Q8TF68, Q9EQJ4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ZNF384	“up-regulates quantity by expression”	MMP1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 35 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Response of EIF2AK4 (GCN2) to amino acid deficiency	5	23.1×	2e-04
Major pathway of rRNA processing in the nucleolus and cytosol	6	15.4×	2e-04
Viral Infection Pathways	7	9.0×	5e-04
Metabolism of RNA	5	8.7×	2e-03
Infectious disease	7	7.2×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	62
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1736 predictions. Top by Δscore:

Variant	Effect	Δscore
12:6669027:TCAC:T	donor_loss	1.0000
12:6669028:CA:C	donor_loss	1.0000
12:6669029:A:AC	donor_gain	1.0000
12:6669029:AC:A	donor_loss	1.0000
12:6669030:C:CT	donor_gain	1.0000
12:6669030:CT:C	donor_gain	1.0000
12:6669030:CTG:C	donor_gain	1.0000
12:6669030:CTGA:C	donor_gain	1.0000
12:6669030:CTGAT:C	donor_gain	1.0000
12:6669185:TGGGA:T	acceptor_gain	1.0000
12:6669186:GGGA:G	acceptor_gain	1.0000
12:6669187:GGA:G	acceptor_gain	1.0000
12:6669188:GA:G	acceptor_gain	1.0000
12:6669190:C:CC	acceptor_gain	1.0000
12:6670755:TTTA:T	donor_loss	1.0000
12:6670756:TTA:T	donor_loss	1.0000
12:6670757:TA:T	donor_loss	1.0000
12:6670759:C:A	donor_loss	1.0000
12:6670836:ATTC:A	acceptor_loss	1.0000
12:6670837:TT:T	acceptor_gain	1.0000
12:6670838:TC:T	acceptor_loss	1.0000
12:6670839:C:CA	acceptor_loss	1.0000
12:6670839:C:CC	acceptor_gain	1.0000
12:6670840:T:A	acceptor_loss	1.0000
12:6672344:CCTTA:C	donor_loss	1.0000
12:6672345:CTTA:C	donor_loss	1.0000
12:6672346:TTACC:T	donor_loss	1.0000
12:6672347:TACCG:T	donor_loss	1.0000
12:6672348:A:C	donor_loss	1.0000
12:6672349:C:CT	donor_loss	1.0000

AlphaMissense

3966 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:6668095:A:C	H451Q	1.000
12:6668095:A:T	H451Q	1.000
12:6668105:A:G	L448P	1.000
12:6669039:A:C	Y442D	1.000
12:6669049:G:C	C438W	1.000
12:6669050:C:G	C438S	1.000
12:6669050:C:T	C438Y	1.000
12:6669051:A:G	C438R	1.000
12:6669051:A:T	C438S	1.000
12:6669058:G:C	C435W	1.000
12:6669059:C:T	C435Y	1.000
12:6669060:A:G	C435R	1.000
12:6669110:A:G	L418P	1.000
12:6669139:A:C	C408W	1.000
12:6669141:A:G	C408R	1.000
12:6669149:C:G	C405S	1.000
12:6669150:A:G	C405R	1.000
12:6669150:A:T	C405S	1.000
12:6670781:G:C	F384L	1.000
12:6670781:G:T	F384L	1.000
12:6670783:A:G	F384L	1.000
12:6670834:G:C	H367D	1.000
12:6672355:G:C	H363Q	1.000
12:6672355:G:T	H363Q	1.000
12:6672365:A:G	L360P	1.000
12:6672382:G:C	F354L	1.000
12:6672382:G:T	F354L	1.000
12:6672384:A:G	F354L	1.000
12:6672394:G:C	C350W	1.000
12:6672396:A:G	C350R	1.000

dbSNP variants (sampled 300 via entrez): RS1000205501 (12:6676987 A>G), RS1000314823 (12:6667698 G>T), RS1000329595 (12:6671527 T>A), RS1000399243 (12:6680930 C>T), RS1000540475 (12:6666737 A>G), RS1000655070 (12:6666439 C>T), RS1000668728 (12:6674607 T>C), RS1000721286 (12:6669939 C>CGT), RS1000730348 (12:6679697 T>G), RS1000769905 (12:6676018 T>C), RS1000845302 (12:6679369 A>G), RS1001070266 (12:6670046 ACC>A,AC), RS1001070902 (12:6685279 C>A,T), RS1001128411 (12:6690753 G>A,C), RS1001137702 (12:6691369 C>T)

Disease associations

OMIM: gene MIM:609951 | 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

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	increases abundance, increases expression, affects methylation, affects cotreatment	2
bisphenol F	affects cotreatment, decreases expression	1
TAK-243	increases sumoylation	1
A-485 compound	decreases reaction, increases expression	1
dicrotophos	increases expression	1
beta-lapachone	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
monomethylarsonous acid	increases expression	1
Sunitinib	increases expression	1
Cadmium	decreases expression, increases abundance	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Indomethacin	affects cotreatment, decreases expression	1
Lipopolysaccharides	decreases reaction, increases expression, increases secretion, decreases expression, affects reaction	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Smoke	decreases expression	1
Dronabinol	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	affects expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Cyclosporine	increases expression	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A8H1	SEES3-1V human ZNF384, clone1	Embryonic stem cell	Male
CVCL_A8H2	SEES3-1V human ZNF384, clone2	Embryonic stem cell	Male
CVCL_A8H3	SEES3-1V human ZNF384, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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