ZNF385C

Summary

ZNF385C (zinc finger protein 385C, HGNC:33722) is a protein-coding gene on chromosome 17q21.2, encoding Zinc finger protein 385C (Q66K41).

Predicted to enable nucleic acid binding activity and zinc ion binding activity. Predicted to be active in nucleus.

Source: NCBI Gene 201181 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 11 total
• MANE Select transcript: NM_001392013

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33722
Approved symbol	ZNF385C
Name	zinc finger protein 385C
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000187595
Ensembl biotype	protein_coding
OMIM	620982
Entrez	201181

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 retained_intron

ENST00000436535, ENST00000453355, ENST00000461831, ENST00000496039, ENST00000649819, ENST00000692273, ENST00000920089

RefSeq mRNA: 8 — MANE Select: NM_001392013 NM_001378270, NM_001392013, NM_001392014, NM_001392015, NM_001392016, NM_001392017, NM_001392018, NM_001393562

CCDS: CCDS92306

Canonical transcript exons

ENST00000692273 — 9 exons

Exon	Start	End
ENSE00001516789	42031619	42031784
ENSE00001516792	42034225	42034335
ENSE00001516793	42037737	42037885
ENSE00001799825	42062807	42063058
ENSE00003628616	42028050	42028246
ENSE00003732053	42027618	42027728
ENSE00003733982	42025576	42027133
ENSE00003750050	42028783	42029073
ENSE00003936209	42098410	42098473

Expression profiles

Bgee: expression breadth ubiquitous, 160 present calls, max score 86.23.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4424 / max 49.1111, expressed in 165 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166087	0.2963	71
166084	0.1461	89

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cartilage tissue	UBERON:0002418	86.23	gold quality
right hemisphere of cerebellum	UBERON:0014890	82.61	gold quality
left testis	UBERON:0004533	82.10	gold quality
right testis	UBERON:0004534	80.87	gold quality
cerebellar cortex	UBERON:0002129	80.49	gold quality
cerebellar hemisphere	UBERON:0002245	80.41	gold quality
hindlimb stylopod muscle	UBERON:0004252	80.30	gold quality
testis	UBERON:0000473	79.71	gold quality
cerebellum	UBERON:0002037	79.71	gold quality
tibialis anterior	UBERON:0001385	79.67	silver quality
cerebellar vermis	UBERON:0004720	75.33	gold quality
kidney epithelium	UBERON:0004819	73.69	gold quality
buccal mucosa cell	CL:0002336	73.27	silver quality
left ventricle myocardium	UBERON:0006566	72.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	72.68	gold quality
oviduct epithelium	UBERON:0004804	72.55	gold quality
right uterine tube	UBERON:0001302	70.33	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	69.68	gold quality
body of pancreas	UBERON:0001150	69.43	gold quality
tibial nerve	UBERON:0001323	69.20	gold quality
gastrocnemius	UBERON:0001388	69.12	gold quality
muscle of leg	UBERON:0001383	69.03	gold quality
ileal mucosa	UBERON:0000331	67.34	gold quality
pituitary gland	UBERON:0000007	67.23	gold quality
left ovary	UBERON:0002119	66.74	gold quality
adenohypophysis	UBERON:0002196	66.40	gold quality
myocardium	UBERON:0002349	66.40	gold quality
right frontal lobe	UBERON:0002810	65.75	gold quality
granulocyte	CL:0000094	65.56	gold quality
pancreatic ductal cell	CL:0002079	65.42	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-36552	no	18.54
E-ANND-3	no	2.40

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf385c	ENSDARG00000058154
mus_musculus	Zfp385c	ENSMUSG00000014198
rattus_norvegicus	Zfp385c	ENSRNOG00000025370
drosophila_melanogaster	CG1231	FBGN0035134
drosophila_melanogaster	dbf	FBGN0287630

Paralogs (9): ZNF346 (ENSG00000113761), ZNF385B (ENSG00000144331), ZMAT2 (ENSG00000146007), ZNF385D (ENSG00000151789), ZNF385A (ENSG00000161642), ZMAT4 (ENSG00000165061), ZMAT1 (ENSG00000166432), KRCC1 (ENSG00000172086), ZMAT3 (ENSG00000172667)

Protein

Protein identifiers

Zinc finger protein 385C — Q66K41 (reviewed: Q66K41)

All UniProt accessions (4): A0A3B3IS60, A0A3B3ITE2, A0A8I5KWL9, C9J6X6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Isoforms (2)

UniProt ID	Names	Canonical?
Q66K41-1	1	yes
Q66K41-2	2

RefSeq proteins (8): NP_001365199, NP_001378942, NP_001378943, NP_001378944, NP_001378945, NP_001378946, NP_001378947, NP_001380491 (=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 (11 total): zinc finger region 3, region of interest 3, compositionally biased region 3, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q66K41-F1	61.05	0.18

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 41 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, CTATGCA_MIR153, LEIN_CEREBELLUM_MARKERS, MIKKELSEN_MCV6_LCP_WITH_H3K27ME3, MIKKELSEN_MEF_LCP_WITH_H3K27ME3, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GLI1_TARGET_GENES, TAFAZZIN_TARGET_GENES, ZNF513_TARGET_GENES, ZNF7_TARGET_GENES, MIR5696, MIR4729, MIR548AA_MIR548AP_3P_MIR548T_3P, GSE10239_MEMORY_VS_KLRG1INT_EFF_CD8_TCELL_UP, GSE10239_MEMORY_VS_KLRG1HIGH_EFF_CD8_TCELL_UP

GO Biological Process (0):

GO Molecular Function (2): nucleic acid binding (GO:0003676), zinc ion binding (GO:0008270)

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
transition metal ion binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

312 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF385C	CIMAP2	Q3ZCV2	450
ZNF385C	NXPE1	Q8N323	446
ZNF385C	SEL1L3	Q68CR1	411
ZNF385C	GIMAP8	Q8ND71	404
ZNF385C	ZACN	Q401N2	400
ZNF385C	WDR46	O15213	382
ZNF385C	SMIM3	Q9BZL3	379
ZNF385C	SNORC	Q6UX34	375
ZNF385C	PDAP1	Q13442	357
ZNF385C	PSMC1	P49014	352
ZNF385C	FOXI2	Q6ZQN5	334
ZNF385C	SRD5A3	Q9H8P0	319
ZNF385C	UBASH3A	P57075	309
ZNF385C	CCDC88C	Q9P219	301
ZNF385C	HELZ2	Q9BYK8	285

IntAct

29 interactions, top by confidence:

A	B	Type	Score
ZNF385C	BOLL	psi-mi:“MI:0915”(physical association)	0.680
BOLL	ZNF385C	psi-mi:“MI:0915”(physical association)	0.680
HNRNPK	ZNF385C	psi-mi:“MI:0915”(physical association)	0.670
ZNF385C	PSMA3	psi-mi:“MI:0915”(physical association)	0.670
THAP1	ZNF385C	psi-mi:“MI:0915”(physical association)	0.670
ZNF385C	HNRNPK	psi-mi:“MI:0915”(physical association)	0.670
PSMA3	ZNF385C	psi-mi:“MI:0915”(physical association)	0.670
ZNF385C	THAP1	psi-mi:“MI:0915”(physical association)	0.670
ZNF385C	RBMY1F	psi-mi:“MI:0915”(physical association)	0.560
ZNF385C	RBPMS	psi-mi:“MI:0915”(physical association)	0.560
RBMY1F	ZNF385C	psi-mi:“MI:0915”(physical association)	0.560
SPAG5	ZNF385C	psi-mi:“MI:0915”(physical association)	0.370
ZNF385C	C1QBP	psi-mi:“MI:0914”(association)	0.350
ZNF385C	CRYGD	psi-mi:“MI:0914”(association)	0.350

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

3218 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000005830 (17:42093317 G>A), RS1000058675 (17:42097181 C>A,G), RS1000074571 (17:42039517 G>A,C), RS1000145914 (17:42053922 G>C), RS1000167885 (17:42099844 G>A), RS1000351650 (17:42032724 T>C), RS1000420097 (17:42046801 C>G), RS1000479070 (17:42052520 T>A), RS1000573674 (17:42052790 C>A,T), RS1000662670 (17:42098829 G>A), RS1000727512 (17:42100105 G>A), RS1000854996 (17:42027278 A>G), RS1000907963 (17:42098475 G>A), RS1000911086 (17:42073218 C>T), RS1001014887 (17:42079108 A>G)

Disease associations

OMIM: gene MIM:620982 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST012299_2	Schizophrenia, bipolar disorder or major depressive disorder x sex interaction (3df)	2.000000e-06
GCST90002385_415	High light scatter reticulocyte count	3.000000e-10
GCST90002386_188	High light scatter reticulocyte percentage of red cells	1.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008343	sex interaction measurement
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	affects expression, decreases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
tris(2-butoxyethyl) phosphate	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
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Atrazine	increases expression	1
Cadmium	decreases expression, increases abundance	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Lead	affects expression	1
Nickel	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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