ZNF385B

Summary

ZNF385B (zinc finger protein 385B, HGNC:26332) is a protein-coding gene on chromosome 2q31.2-q31.3, encoding Zinc finger protein 385B (Q569K4). May play a role in p53/TP53-mediated apoptosis.

Enables p53 binding activity. Involved in intrinsic apoptotic signaling pathway by p53 class mediator. Located in nucleus.

Source: NCBI Gene 151126 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_152520

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26332
Approved symbol	ZNF385B
Name	zinc finger protein 385B
Location	2q31.2-q31.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25270
Ensembl gene	ENSG00000144331
Ensembl biotype	protein_coding
OMIM	612344
Entrez	151126

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 5 protein_coding_CDS_not_defined

ENST00000336917, ENST00000409343, ENST00000409692, ENST00000410066, ENST00000438871, ENST00000439340, ENST00000451732, ENST00000457304, ENST00000463918, ENST00000466398, ENST00000469551, ENST00000475539, ENST00000495289

RefSeq mRNA: 14 — MANE Select: NM_152520 NM_001113397, NM_001113398, NM_001282725, NM_001352808, NM_001352809, NM_001352810, NM_001352811, NM_001352812, NM_001352813, NM_001352814, NM_001352815, NM_001352816, NM_001352817, NM_152520

CCDS: CCDS33339, CCDS46463, CCDS46464

Canonical transcript exons

ENST00000410066 — 10 exons

Exon	Start	End
ENSE00000964606	179444876	179444977
ENSE00001579479	179441982	179443468
ENSE00001584667	179861101	179861612
ENSE00001585913	179770521	179770672
ENSE00001589906	179769503	179769802
ENSE00003460015	179446525	179446770
ENSE00003561526	179483272	179483434
ENSE00003580045	179544827	179544969
ENSE00003679704	179518528	179518638
ENSE00003784236	179445550	179445728

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 97.65.

FANTOM5 (CAGE): breadth broad, TPM avg 4.0717 / max 173.8131, expressed in 502 samples.

FANTOM5 promoters (19 alternative TSS)

Promoter ID	TPM avg	Samples expressed
32701	0.7053	165
32705	0.6247	121
32704	0.6011	137
32706	0.5091	100
32702	0.4949	197
32685	0.3369	129
32700	0.1675	42
32686	0.1571	66
32703	0.1001	52
32684	0.0747	46

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	97.65	gold quality
tibia	UBERON:0000979	96.88	gold quality
kidney epithelium	UBERON:0004819	94.88	silver quality
Brodmann (1909) area 23	UBERON:0013554	94.53	gold quality
middle temporal gyrus	UBERON:0002771	93.71	gold quality
lower lobe of lung	UBERON:0008949	93.66	gold quality
cartilage tissue	UBERON:0002418	92.92	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	92.84	gold quality
primary visual cortex	UBERON:0002436	92.59	gold quality
synovial joint	UBERON:0002217	92.37	gold quality
biceps brachii	UBERON:0001507	92.29	gold quality
sperm	CL:0000019	92.28	silver quality
cardiac atrium	UBERON:0002081	91.54	gold quality
right atrium auricular region	UBERON:0006631	91.52	gold quality
superior frontal gyrus	UBERON:0002661	90.55	gold quality
Brodmann (1909) area 46	UBERON:0006483	90.48	gold quality
postcentral gyrus	UBERON:0002581	90.39	gold quality
cerebellar cortex	UBERON:0002129	89.21	gold quality
cerebellar hemisphere	UBERON:0002245	89.20	gold quality
cerebellum	UBERON:0002037	89.04	gold quality
caput epididymis	UBERON:0004358	88.83	gold quality
occipital lobe	UBERON:0002021	88.82	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.63	gold quality
endothelial cell	CL:0000115	88.47	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	88.30	gold quality
parietal lobe	UBERON:0001872	88.15	gold quality
adult organism	UBERON:0007023	87.98	gold quality
vastus lateralis	UBERON:0001379	87.66	gold quality
layer of synovial tissue	UBERON:0007616	87.36	gold quality
prefrontal cortex	UBERON:0000451	87.14	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	6010.04
E-HCAD-25	yes	81.30
E-HCAD-35	yes	70.31
E-GEOD-137537	yes	15.68
E-GEOD-130148	yes	8.35
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

103 targeting ZNF385B, 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-6748-5P	100.00	65.81	1057
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-3119	99.92	71.34	2390

Literature-anchored findings (GeneRIF, showing 4)

• the relationship between ZNF533, environmental factors, and the etiology of nonsyndromic orofacial clefts (PMID:20849254)
• The direct binding of ZNF385B with p53 has suggested the involvement of ZNF385B in B-cell apoptosis via modulation of p53 transactivation (PMID:22945289)
• ZNF385B and VEGFA are strongly differentially expressed in serous ovarian carcinomas and correlate with survival. (PMID:23029477)
• The study found significant associations between autism and two SNPs of the ZNF533 gene. (PMID:24599690)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf385b	ENSDARG00000006065
mus_musculus	Zfp385b	ENSMUSG00000027016
rattus_norvegicus	Zfp385b	ENSRNOG00000019065
drosophila_melanogaster	CG1231	FBGN0035134
drosophila_melanogaster	dbf	FBGN0287630

Paralogs (9): ZNF346 (ENSG00000113761), ZMAT2 (ENSG00000146007), ZNF385D (ENSG00000151789), ZNF385A (ENSG00000161642), ZMAT4 (ENSG00000165061), ZMAT1 (ENSG00000166432), KRCC1 (ENSG00000172086), ZMAT3 (ENSG00000172667), ZNF385C (ENSG00000187595)

Protein

Protein identifiers

Zinc finger protein 385B — Q569K4 (reviewed: Q569K4)

Alternative names: Zinc finger protein 533

All UniProt accessions (6): Q569K4, A0A2U3TZT0, C9J0U3, C9JKK0, C9JPH4, E9PB85

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in p53/TP53-mediated apoptosis.

Subunit / interactions. Interacts with p53/TP53; the interaction is direct.

Subcellular location. Nucleus.

Tissue specificity. Detected in germinal center of lymph node (at protein level). Expressed in spleen, lymph node and tonsil.

Miscellaneous. Major isoform in tonsil. Major isoform in lymph node.

Isoforms (5)

UniProt ID	Names	Canonical?
Q569K4-1	1, IF-1	yes
Q569K4-2	2, IF-2
Q569K4-3	3, IF-3
Q569K4-4	4
Q569K4-5	5

RefSeq proteins (14): NP_001106868, NP_001106869, NP_001269654, NP_001339737, NP_001339738, NP_001339739, NP_001339740, NP_001339741, NP_001339742, NP_001339743, NP_001339744, NP_001339745, NP_001339746, NP_689733* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003604	Matrin/U1-like-C_Znf_C2H2	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR051845	Znf385	Family

Pfam: PF12874

UniProt features (27 total): splice variant 9, region of interest 5, zinc finger region 4, compositionally biased region 4, sequence variant 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q569K4-F1	61.30	0.14

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 147 (showing top): AGGAAGC_MIR5163P, ACTACCT_MIR196A_MIR196B, FREAC2_01, TTTGTAG_MIR520D, AAGCCAT_MIR135A_MIR135B, MEF2_02, FOXO4_01, FOXO1_01, PAX8_B, AP1_Q4_01, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GATA3_01, GOBP_APOPTOTIC_SIGNALING_PATHWAY, BRN2_01, OCT1_03

GO Biological Process (2): intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332), apoptotic process (GO:0006915)

GO Molecular Function (4): p53 binding (GO:0002039), nucleic acid binding (GO:0003676), zinc ion binding (GO:0008270), 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
signal transduction by p53 class mediator	1
intrinsic apoptotic signaling pathway	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
protein binding	1
binding	1
transition metal ion binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

896 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF385B	ZNF81	P51508	870
ZNF385B	ZNF674	Q2M3X9	856
ZNF385B	ZNF41	P51814	836
ZNF385B	ELMO1	Q92556	719
ZNF385B	ZNF774	Q6NX45	573
ZNF385B	ZNF548	Q8NEK5	561
ZNF385B	ZNF778	Q96MU6	541
ZNF385B	ZNF517	Q6ZMY9	511
ZNF385B	ZNF559	Q9BR84	507
ZNF385B	ZNF18	P17022	491
ZNF385B	ZNF8	P17098	488
ZNF385B	ZNF713	Q8N859	480
ZNF385B	VSTM2L	Q96N03	475
ZNF385B	TSHZ3	Q63HK5	469
ZNF385B	ZNF407	Q9C0G0	462

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ZNF385B	H2BC9	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (5): ZNF385B (Affinity Capture-MS), ZNF385B (Reconstituted Complex), ZNF385B (Affinity Capture-RNA), HIST1H2BH (Proximity Label-MS), ZNF385B (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A2A5E6, A5PK23, A6NKF2, A6PWV5, B0K011, E9Q6W4, O02786, O95402, P09086, P13297, P55198, Q00196, Q08DS3, Q0VDQ9, Q29013, Q2NKI2, Q2VL80, Q2VL82, Q2VL83, Q2VL85, Q2VL86, Q569K4, Q5XI28, Q62255, Q66K41, Q6AXX3, Q6PBT9, Q86V15, Q8BXJ8, Q8IVH2, Q8K4J6, Q8TAX0, Q8VD12, Q8VDL9, Q8WUU4, Q92766, Q969V6, Q96PM9, Q9BXA9, Q9BZE0

Diamond homologs: A2A5E6, Q569K4, Q66K41, Q6AXX3, Q6PBT9, Q8AVN9, Q8BXJ8, Q8VD12, Q96PM9, Q9H6B1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	60
Likely benign	1
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

4237 predictions. Top by Δscore:

Variant	Effect	Δscore
2:179444874:A:AC	donor_gain	1.0000
2:179444875:C:CC	donor_gain	1.0000
2:179444875:CTG:C	donor_gain	1.0000
2:179444974:TGTG:T	acceptor_gain	1.0000
2:179445546:TTA:T	donor_loss	1.0000
2:179445547:TACCT:T	donor_loss	1.0000
2:179445549:C:CG	donor_loss	1.0000
2:179445724:AGATC:A	acceptor_gain	1.0000
2:179445725:GATC:G	acceptor_gain	1.0000
2:179445726:ATC:A	acceptor_gain	1.0000
2:179445727:TC:T	acceptor_gain	1.0000
2:179445728:CC:C	acceptor_gain	1.0000
2:179445729:C:CC	acceptor_gain	1.0000
2:179445729:C:T	acceptor_gain	1.0000
2:179446768:CTT:C	acceptor_gain	1.0000
2:179446769:TT:T	acceptor_gain	1.0000
2:179446771:C:CC	acceptor_gain	1.0000
2:179485936:T:C	donor_gain	1.0000
2:179518519:GATAC:G	donor_loss	1.0000
2:179518520:ATACT:A	donor_loss	1.0000
2:179518522:ACT:A	donor_loss	1.0000
2:179518523:CTC:C	donor_loss	1.0000
2:179518524:TCAC:T	donor_loss	1.0000
2:179518525:CA:C	donor_loss	1.0000
2:179518526:A:AC	donor_gain	1.0000
2:179518526:ACAT:A	donor_gain	1.0000
2:179518526:ACATC:A	donor_loss	1.0000
2:179518527:C:CC	donor_gain	1.0000
2:179518527:C:CT	donor_loss	1.0000
2:179518527:CA:C	donor_gain	1.0000

AlphaMissense

3190 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000031166 (2:179540924 G>C), RS1000041737 (2:179636415 G>T), RS1000043071 (2:179464417 T>C), RS1000043769 (2:179808556 C>T), RS1000044730 (2:179547659 A>G), RS1000046018 (2:179474975 T>C), RS1000056296 (2:179672498 T>C), RS1000065507 (2:179761125 T>A), RS1000068127 (2:179802331 A>C), RS1000071196 (2:179828425 T>C), RS1000072431 (2:179495048 C>T), RS1000073235 (2:179677336 G>A), RS1000076423 (2:179556166 T>C), RS1000081561 (2:179539621 T>A), RS1000082042 (2:179718249 C>T)

Disease associations

OMIM: gene MIM:612344 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001099_22	Sudden cardiac arrest	6.000000e-14
GCST006629_84	Pulse pressure	1.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004278	sudden cardiac arrest
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression, decreases methylation, increases expression, affects cotreatment	8
trichostatin A	affects cotreatment, decreases expression, increases expression	3
Benzo(a)pyrene	decreases methylation, increases methylation, decreases expression	3
mercuric bromide	decreases expression, affects cotreatment	2
entinostat	decreases expression, affects cotreatment	2
Resveratrol	affects cotreatment, increases expression, decreases expression	2
Vorinostat	affects cotreatment, decreases expression, increases expression	2
Panobinostat	decreases expression, affects cotreatment	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases expression, decreases methylation	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
dicrotophos	increases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	increases methylation, affects cotreatment	1
tris(2-butoxyethyl) phosphate	affects expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
CGP 52608	affects binding, increases reaction	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
Temozolomide	decreases expression	1
Decitabine	decreases expression, decreases reaction	1
Zoledronic Acid	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation, decreases methylation	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Azathioprine	decreases expression	1
Caffeine	affects phosphorylation	1

Clinical trials (associated diseases)

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