ZNF232

Summary

ZNF232 (zinc finger protein 232, HGNC:13026) is a protein-coding gene on chromosome 17p13.2, encoding Zinc finger protein 232 (Q9UNY5). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm.

Source: NCBI Gene 7775 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 79 total
• MANE Select transcript: NM_014519

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13026
Approved symbol	ZNF232
Name	zinc finger protein 232
Location	17p13.2
Locus type	gene with protein product
Status	Approved
Aliases	ZSCAN11
Ensembl gene	ENSG00000167840
Ensembl biotype	protein_coding
OMIM	616463
Entrez	7775

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 10 protein_coding, 6 nonsense_mediated_decay, 3 retained_intron

ENST00000250076, ENST00000570486, ENST00000571076, ENST00000572468, ENST00000573015, ENST00000574735, ENST00000575538, ENST00000575898, ENST00000696407, ENST00000696408, ENST00000696535, ENST00000696536, ENST00000696538, ENST00000895121, ENST00000895122, ENST00000895123, ENST00000895124, ENST00000916913, ENST00000916914

RefSeq mRNA: 8 — MANE Select: NM_014519 NM_001320952, NM_001320953, NM_001320954, NM_001320955, NM_001395550, NM_001395551, NM_001395552, NM_014519

CCDS: CCDS11068, CCDS82043, CCDS92233

Canonical transcript exons

ENST00000250076 — 4 exons

Exon	Start	End
ENSE00003597565	5108926	5109052
ENSE00003967646	5109394	5109868
ENSE00003967648	5111800	5111878
ENSE00003967650	5105736	5106533

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 92.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.5954 / max 81.3311, expressed in 1595 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164018	5.4413	1583
164019	0.1540	89

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	92.55	gold quality
ganglionic eminence	UBERON:0004023	89.65	gold quality
embryo	UBERON:0000922	87.51	gold quality
ventricular zone	UBERON:0003053	87.03	gold quality
cervix squamous epithelium	UBERON:0006922	86.57	silver quality
inferior olivary complex	UBERON:0002127	85.72	silver quality
cortical plate	UBERON:0005343	85.65	gold quality
pancreatic ductal cell	CL:0002079	85.41	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	85.18	silver quality
bronchial epithelial cell	CL:0002328	85.17	gold quality
epithelium of bronchus	UBERON:0002031	84.00	gold quality
bronchus	UBERON:0002185	83.70	gold quality
urethra	UBERON:0000057	83.21	gold quality
visceral pleura	UBERON:0002401	83.10	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.30	gold quality
epithelial cell of pancreas	CL:0000083	82.14	silver quality
cardia of stomach	UBERON:0001162	81.94	gold quality
tendon of biceps brachii	UBERON:0008188	81.80	gold quality
muscle layer of sigmoid colon	UBERON:0035805	81.59	gold quality
gastrocnemius	UBERON:0001388	81.57	gold quality
epithelium of nasopharynx	UBERON:0001951	81.56	gold quality
nasopharynx	UBERON:0001728	81.55	silver quality
lower esophagus muscularis layer	UBERON:0035833	81.46	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.42	gold quality
lower esophagus	UBERON:0013473	81.41	gold quality
right ovary	UBERON:0002118	81.31	gold quality
oocyte	CL:0000023	81.24	gold quality
pleura	UBERON:0000977	81.14	gold quality
muscle of leg	UBERON:0001383	81.08	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	81.07	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.95

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (30): ZNF263 (ENSG00000006194), ZNF213 (ENSG00000085644), ZNF500 (ENSG00000103199), ZKSCAN1 (ENSG00000106261), ZNF205 (ENSG00000122386), ZSCAN9 (ENSG00000137185), PGBD1 (ENSG00000137338), ZNF215 (ENSG00000149054), ZSCAN12 (ENSG00000158691), ZNF394 (ENSG00000160908), ZNF75A (ENSG00000162086), ZSCAN21 (ENSG00000166529), ZNF24 (ENSG00000172466), ZNF449 (ENSG00000173275), ZSCAN4 (ENSG00000180532), ZSCAN22 (ENSG00000182318), ZNF75D (ENSG00000186376), ZNF396 (ENSG00000186496), ZNF397 (ENSG00000186812), ZSCAN30 (ENSG00000186814), ZKSCAN4 (ENSG00000187626), ZSCAN23 (ENSG00000187987), ZKSCAN3 (ENSG00000189298), ZSCAN16 (ENSG00000196812), ZSCAN25 (ENSG00000197037), ZSCAN26 (ENSG00000197062), ZNF165 (ENSG00000197279), ZKSCAN8 (ENSG00000198315), ZSCAN31 (ENSG00000235109), ZNF853 (ENSG00000236609)

Protein

Protein identifiers

Zinc finger protein 232 — Q9UNY5 (reviewed: Q9UNY5)

Alternative names: Zinc finger and SCAN domain-containing protein 11

All UniProt accessions (5): A0A669KB47, A0A8Q3SIR0, A0A8Q3SIT7, Q9UNY5, I3L4H6

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous. Higher expression seen in the liver, testis and ovary.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UNY5-1	Long	yes
Q9UNY5-2	Short

RefSeq proteins (8): NP_001307881, NP_001307882, NP_001307883, NP_001307884, NP_001382479, NP_001382480, NP_001382481, NP_055334* (*=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 (10 total): zinc finger region 5, chain 1, domain 1, region of interest 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UNY5-F1	61.05	0.03

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 67 (showing top): CAGCTG_AP4_Q5, NFKB_Q6, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_2_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, HEN1_01, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, EGR1_01, CCCNNGGGAR_OLF1_01, TGGAAA_NFAT_Q4_01, ZF5_01, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, STAMBOLSKY_RESPONSE_TO_VITAMIN_D3_DN, OISHI_CHOLANGIOMA_STEM_CELL_LIKE_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY

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

GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleoplasm (GO:0005654), cytosol (GO:0005829), 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	2
cellular anatomical structure	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
nuclear lumen	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

694 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF232	SCIMP	Q6UWF3	480
ZNF232	ZNF552	Q9H707	404
ZNF232	OR4F16	Q6IEY1	398
ZNF232	OR10V1	Q8NGI7	397
ZNF232	OR8K5	Q8NH50	396
ZNF232	TM4SF20	Q53R12	393
ZNF232	ZNF521	Q96K83	391
ZNF232	ZNF148	Q9UQR1	383
ZNF232	ZNF768	Q9H5H4	378
ZNF232	DEFB129	Q9H1M3	377
ZNF232	OR10G8	Q8NGN5	377
ZNF232	NBPF3	Q9H094	375
ZNF232	MSH3	P20585	371
ZNF232	OR2T11	Q8NH01	370
ZNF232	VPS26C	O14972	369
ZNF232	ZNF853	P0CG23	369

IntAct

105 interactions, top by confidence:

A	B	Type	Score
ZNF446	ZNF232	psi-mi:“MI:0915”(physical association)	0.780
ZNF232	ZNF446	psi-mi:“MI:0915”(physical association)	0.780
ZNF232	PPCDC	psi-mi:“MI:0915”(physical association)	0.720
PPCDC	ZNF232	psi-mi:“MI:0915”(physical association)	0.720
ZNF24	ZNF232	psi-mi:“MI:0915”(physical association)	0.670
MPPED1	TXNDC9	psi-mi:“MI:0914”(association)	0.640
ZNF232	ZNF446	psi-mi:“MI:0915”(physical association)	0.630
ZNF232	EMD	psi-mi:“MI:0915”(physical association)	0.560
ZNF232	MTUS2	psi-mi:“MI:0915”(physical association)	0.560
MTUS2	ZNF232	psi-mi:“MI:0915”(physical association)	0.560
	ZNF232	psi-mi:“MI:0915”(physical association)	0.560
FXR2	ZNF232	psi-mi:“MI:0915”(physical association)	0.560
ZNF232		psi-mi:“MI:0915”(physical association)	0.560
ELAVL4	ZNF232	psi-mi:“MI:0915”(physical association)	0.560
FOS	ZNF232	psi-mi:“MI:0915”(physical association)	0.560
ZNF232	GFAP	psi-mi:“MI:0915”(physical association)	0.560
ZNF232	GRB2	psi-mi:“MI:0915”(physical association)	0.560
GRIA1	ZNF232	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (103): ZNF232 (Two-hybrid), MTUS2 (Two-hybrid), ZNF446 (Two-hybrid), PPCDC (Two-hybrid), ZNF232 (Affinity Capture-MS), ZNF232 (Affinity Capture-MS), ZNF232 (Affinity Capture-MS), ZNF232 (Affinity Capture-MS), ZNF446 (Two-hybrid), ZNF232 (Two-hybrid), ZBED9 (Affinity Capture-MS), TRIO (Affinity Capture-MS), ZSCAN20 (Affinity Capture-MS), ZKSCAN5 (Affinity Capture-MS), P3H2 (Affinity Capture-MS)

ESM2 similar proteins: A1YEQ3, A1YEV9, A1YFW6, A1YG26, A1YG48, A1YG60, A2T6W2, A2T712, A2T736, A2T7L7, A6QNZ0, O14978, O15535, O95125, P17022, P17029, P49910, P51815, P59923, Q07231, Q15776, Q16670, Q1LZ87, Q3MJ62, Q3URR7, Q4KLI1, Q4R8H9, Q53GI3, Q5R670, Q5R741, Q5RJ54, Q63HK3, Q642B9, Q6P9G9, Q810A1, Q86W11, Q8BGS3, Q8CF60, Q8NF99, Q92670

Diamond homologs: A1YEP8, A1YEQ3, A1YEV9, A1YFW2, A1YFW6, A1YG26, A1YG48, A1YG60, A1YGJ4, A1YGK6, A2T6E3, A2T6V8, A2T6W2, A2T712, A2T736, A2T7D2, A2T7D7, A2T7F2, A2T7F4, A2T7L7, A2T812, A6QNZ0, A6QPT6, B2KFW1, O14709, O14771, O14978, O15535, O43309, O60304, O95125, P10073, P17022, P17028, P17029, P17040, P28698, P49910, P51815, P59923

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	74
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1891 predictions. Top by Δscore:

Variant	Effect	Δscore
17:5108925:CCA:C	donor_gain	1.0000
17:5108925:CCACT:C	donor_gain	1.0000
17:5120762:G:GT	donor_gain	1.0000
17:5121751:G:GG	donor_gain	1.0000
17:5122975:A:AC	donor_gain	1.0000
17:5122976:C:CT	donor_gain	1.0000
17:5122976:CT:C	donor_gain	1.0000
17:5122976:CTG:C	donor_gain	1.0000
17:5122976:CTGCA:C	donor_gain	1.0000
17:5108920:CCTCA:C	donor_loss	0.9900
17:5108921:CTCA:C	donor_loss	0.9900
17:5108922:TCA:T	donor_loss	0.9900
17:5108923:CA:C	donor_loss	0.9900
17:5108924:A:AT	donor_loss	0.9900
17:5108925:CCAC:C	donor_loss	0.9900
17:5116738:GTT:G	donor_gain	0.9900
17:5120784:GCATG:G	donor_gain	0.9900
17:5121746:GCTCA:G	donor_gain	0.9900
17:5122970:AACTT:A	donor_loss	0.9900
17:5122971:ACTT:A	donor_loss	0.9900
17:5122972:CTT:C	donor_loss	0.9900
17:5122973:TTACT:T	donor_loss	0.9900
17:5122974:TACT:T	donor_loss	0.9900
17:5122975:ACTG:A	donor_gain	0.9900
17:5122976:CTGC:C	donor_gain	0.9900
17:5106507:C:CC	acceptor_gain	0.9800
17:5108918:CTCCT:C	donor_loss	0.9800
17:5109412:T:TA	donor_gain	0.9800
17:5116520:G:GT	donor_gain	0.9800
17:5116710:G:GT	donor_gain	0.9800

AlphaMissense

2909 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000102971 (17:5115688 T>C), RS1000107274 (17:5120735 A>C), RS1000164948 (17:5118270 A>G), RS1000177183 (17:5114524 G>A,C), RS1000195540 (17:5108009 G>A,C), RS1000542831 (17:5120359 C>T), RS1001181857 (17:5115598 C>G,T), RS1001212803 (17:5115435 C>T), RS1001581723 (17:5107911 A>G), RS1001600752 (17:5109657 G>A), RS1001707359 (17:5112871 A>T), RS1001817452 (17:5118771 G>A), RS1002113373 (17:5117746 C>G,T), RS1002185687 (17:5116619 G>C), RS1002200070 (17:5111098 G>A)

Disease associations

OMIM: gene MIM:616463 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007540_10	PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004881	asparaginase hypersensitivity

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	2
Methyl Methanesulfonate	decreases expression, increases expression	2
Valproic Acid	increases expression, increases methylation, affects expression	2
GSK-J4	decreases expression	1
urushiol	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	increases methylation	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Adenine	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Atrazine	decreases expression	1
Cisplatin	decreases expression	1
Colchicine	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Etoposide	decreases expression	1
Formaldehyde	decreases expression	1
Hydroxyurea	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Smoke	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Mitomycin	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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