ZNF180

Summary

ZNF180 (zinc finger protein 180, HGNC:12970) is a protein-coding gene on chromosome 19q13.31, encoding Zinc finger protein 180 (Q9UJW8). May be involved in transcriptional regulation.

Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.

Source: NCBI Gene 7733 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 104 total
• MANE Select transcript: NM_001278509

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12970
Approved symbol	ZNF180
Name	zinc finger protein 180
Location	19q13.31
Locus type	gene with protein product
Status	Approved
Aliases	HHZ168
Ensembl gene	ENSG00000167384
Ensembl biotype	protein_coding
OMIM	606740
Entrez	7733

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 16 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000221327, ENST00000391956, ENST00000585514, ENST00000586637, ENST00000587047, ENST00000590088, ENST00000590366, ENST00000591064, ENST00000592095, ENST00000592140, ENST00000592529, ENST00000911254, ENST00000911255, ENST00000911256, ENST00000911257, ENST00000911258, ENST00000911259, ENST00000911260, ENST00000940757, ENST00000940758, ENST00000940759, ENST00000940760

RefSeq mRNA: 8 — MANE Select: NM_001278509 NM_001278508, NM_001278509, NM_001288759, NM_001288760, NM_001288761, NM_001288762, NM_001291633, NM_013256

CCDS: CCDS12639, CCDS62707, CCDS62708

Canonical transcript exons

ENST00000592529 — 5 exons

Exon	Start	End
ENSE00000847537	44474443	44478146
ENSE00002951082	44500275	44500522
ENSE00003493229	44497284	44497377
ENSE00003565189	44479283	44479409
ENSE00003625827	44484361	44484435

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 87.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.6997 / max 94.8262, expressed in 1718 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181394	6.4542	1679
181395	1.2455	723

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	87.09	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.22	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.04	gold quality
cortical plate	UBERON:0005343	79.98	gold quality
calcaneal tendon	UBERON:0003701	79.46	gold quality
ganglionic eminence	UBERON:0004023	78.61	gold quality
ventricular zone	UBERON:0003053	78.33	gold quality
granulocyte	CL:0000094	77.99	gold quality
islet of Langerhans	UBERON:0000006	76.75	gold quality
adrenal tissue	UBERON:0018303	76.66	gold quality
sural nerve	UBERON:0015488	76.21	gold quality
parietal pleura	UBERON:0002400	76.00	gold quality
leukocyte	CL:0000738	75.47	gold quality
monocyte	CL:0000576	75.46	gold quality
mononuclear cell	CL:0000842	75.05	gold quality
stromal cell of endometrium	CL:0002255	74.67	gold quality
pleura	UBERON:0000977	74.49	gold quality
right adrenal gland cortex	UBERON:0035827	73.74	gold quality
rectum	UBERON:0001052	73.70	gold quality
right adrenal gland	UBERON:0001233	73.52	gold quality
descending thoracic aorta	UBERON:0002345	73.07	gold quality
left adrenal gland	UBERON:0001234	72.97	gold quality
cerebellar hemisphere	UBERON:0002245	72.80	gold quality
cerebellar cortex	UBERON:0002129	72.79	gold quality
adrenal gland	UBERON:0002369	72.75	gold quality
left ovary	UBERON:0002119	72.70	gold quality
pancreas	UBERON:0001264	72.62	gold quality
hindlimb stylopod muscle	UBERON:0004252	72.51	gold quality
body of uterus	UBERON:0009853	72.38	gold quality
left adrenal gland cortex	UBERON:0035825	72.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

64 targeting ZNF180, 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-188-3P	100.00	68.76	1240
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-1251-3P	99.64	67.21	1408
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4762-5P	99.57	68.54	1424
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-5009-3P	99.45	69.43	1341

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp180	ENSMUSG00000057101
rattus_norvegicus	Zfp180	ENSRNOG00000029336

Paralogs (62): ZNF582 (ENSG00000018869), ZNF264 (ENSG00000083844), ZNF343 (ENSG00000088876), ZNF684 (ENSG00000117010), ZNF133 (ENSG00000125846), ZNF557 (ENSG00000130544), ZNF337 (ENSG00000130684), ZNF20 (ENSG00000132010), ZFP37 (ENSG00000136866), ZNF614 (ENSG00000142556), KRBOX4 (ENSG00000147121), ZNF599 (ENSG00000153896), ZNF19 (ENSG00000157429), ZNF589 (ENSG00000164048), PRDM9 (ENSG00000164256), ZNF558 (ENSG00000167785), ZNF35 (ENSG00000169981), ZNF778 (ENSG00000170100), ZNF439 (ENSG00000171291), ZNF440 (ENSG00000171295), ZNF556 (ENSG00000172000), ZNF554 (ENSG00000172006), ZNF596 (ENSG00000172748), ZNF80 (ENSG00000174255), ZNF266 (ENSG00000174652), ZNF25 (ENSG00000175395), ZNF77 (ENSG00000175691), ZNF169 (ENSG00000175787), ZNF404 (ENSG00000176222), ZNF491 (ENSG00000177599), ZNF620 (ENSG00000177842), ZNF619 (ENSG00000177873), ZNF875 (ENSG00000181666), ZNF329 (ENSG00000181894), ZFP90 (ENSG00000184939), ZNF566 (ENSG00000186017), ZNF529 (ENSG00000186020), ZNF749 (ENSG00000186230), ZNF555 (ENSG00000186300), ZNF70 (ENSG00000187792)

Protein

Protein identifiers

Zinc finger protein 180 — Q9UJW8 (reviewed: Q9UJW8)

Alternative names: HHZ168

All UniProt accessions (5): Q9UJW8, G5E9B8, K7EMI5, K7EQP0, K7ES30

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

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

Isoforms (4)

UniProt ID	Names	Canonical?
Q9UJW8-1	1	yes
Q9UJW8-2	2
Q9UJW8-3	3
Q9UJW8-4	4

RefSeq proteins (8): NP_001265437, NP_001265438, NP_001275688, NP_001275689, NP_001275690, NP_001275691, NP_001278562, NP_037388 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001909	KRAB	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036051	KRAB_dom_sf	Homologous_superfamily
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR050758	Znf_C2H2-type	Family
IPR056436	Znf-C2H2_ZIC1-5/GLI1-3-like	Domain

Pfam: PF00096, PF01352, PF23561

UniProt features (30 total): zinc finger region 12, cross-link 9, splice variant 3, sequence variant 3, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UJW8-F1	61.81	0.35

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 (9): 138, 159, 168, 191, 198, 226, 304, 313, 330

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 74 (showing top): ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, KOYAMA_SEMA3B_TARGETS_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, NOUZOVA_METHYLATED_IN_APL, CHEN_HOXA5_TARGETS_9HR_UP, SCGGAAGY_ELK1_02, STAT5A_01, ZHENG_IL22_SIGNALING_DN, STAT5A_02, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_UP, SNACANNNYSYAGA_UNKNOWN, MTOR_UP.N4.V1_DN, GSE13522_WT_VS_IFNAR_KO_SKIN_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (6): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), 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 (1): nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RNA Polymerase II Transcription	1

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
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription cis-regulatory region binding	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	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
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

740 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF180	EVX1	P49640	533
ZNF180	SHE	Q5VZ18	507
ZNF180	DNMT3B	Q9UBC3	377
ZNF180	DNMT3A	Q9Y6K1	377
ZNF180	CAPN15	O75808	374
ZNF180	TTR	P02766	368
ZNF180	IGF2	P01344	346
ZNF180	NANOG	Q9H9S0	322
ZNF180	HHLA1	C9JL84	317
ZNF180	ZNF474	Q6S9Z5	313
ZNF180	FRG2C	A6NGY1	305
ZNF180	PTGDR	Q13258	305
ZNF180	POU5F1	P31359	300
ZNF180	TRIM28	Q13263	298
ZNF180	FAM120A2P	Q5T035	296

IntAct

14 interactions, top by confidence:

A	B	Type	Score
NDEL1	ZNF180	psi-mi:“MI:0915”(physical association)	0.670
ZNF180	NDEL1	psi-mi:“MI:0915”(physical association)	0.670
KRTAP10-7	ZNF180	psi-mi:“MI:0915”(physical association)	0.560
ZNF180	KIFC3	psi-mi:“MI:0915”(physical association)	0.560
KIFC3	ZNF180	psi-mi:“MI:0915”(physical association)	0.560
ZNF180	CALR	psi-mi:“MI:0915”(physical association)	0.400
ZNF180	UBR5	psi-mi:“MI:0914”(association)	0.350
ZNF180	SMARCA4	psi-mi:“MI:2364”(proximity)	0.270
NDEL1	ZNF180	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): ZNF180 (Two-hybrid), NDEL1 (Two-hybrid), KRTAP10-7 (Two-hybrid), ZNF180 (Two-hybrid), ZNF180 (Two-hybrid), ZNF180 (Two-hybrid), ZNF180 (Proximity Label-MS), ZNF180 (Two-hybrid), ZNF180 (Proximity Label-MS), RPL35A (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A087WUV0, A0JNB1, A2VDP4, B2RUI1, P0CG31, P10072, P17025, P17036, P17097, P18733, P51814, Q08ER8, Q09FC8, Q0VGE8, Q14590, Q15937, Q16600, Q2M3X9, Q4V8A8, Q5CZA5, Q5R8G9, Q5RBX0, Q5VIY5, Q68DI1, Q6J6I6, Q6NX49, Q6P1L6, Q6PG37, Q6ZMS4, Q6ZMW2, Q80YP6, Q86UD4, Q86Y25, Q8IZ26, Q8N184, Q8NB42, Q8NEK5, Q8TAF7, Q8TF47, Q8WXB4

Diamond homologs: A2A761, A2VDP4, A6QLU5, A6QPT6, A7MBI1, A8MQ14, A8MT65, A8MTY0, A8MUZ8, A8MWA4, B2RXC5, B4DU55, E9PYI1, O94892, P0CH99, P0CI00, P17014, P17030, P17031, P17032, P17098, P21506, P51508, P51523, P51814, P52738, P52742, Q05481, Q06730, Q08DG8, Q14587, Q14929, Q16587, Q2KI58, Q2M218, Q2M3X9, Q32M78, Q3V080, Q3ZCX4, Q49AA0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	97
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1097 predictions. Top by Δscore:

Variant	Effect	Δscore
19:44478142:CAAGT:C	acceptor_gain	1.0000
19:44478143:AAGT:A	acceptor_gain	1.0000
19:44478144:AGT:A	acceptor_gain	1.0000
19:44478145:GT:G	acceptor_gain	1.0000
19:44478146:TCTG:T	acceptor_loss	1.0000
19:44478147:C:CC	acceptor_gain	1.0000
19:44478147:CTGAA:C	acceptor_loss	1.0000
19:44479277:TCTTA:T	donor_loss	1.0000
19:44479278:CTTAC:C	donor_loss	1.0000
19:44479279:TTACC:T	donor_loss	1.0000
19:44479280:TACCC:T	donor_loss	1.0000
19:44479281:A:T	donor_loss	1.0000
19:44479281:AC:A	donor_gain	1.0000
19:44479281:ACC:A	donor_gain	1.0000
19:44479282:C:CA	donor_loss	1.0000
19:44479282:CC:C	donor_gain	1.0000
19:44479282:CCC:C	donor_gain	1.0000
19:44479406:CTTC:C	acceptor_gain	1.0000
19:44479408:TCCTA:T	acceptor_loss	1.0000
19:44479409:CCTAA:C	acceptor_loss	1.0000
19:44479411:T:C	acceptor_loss	1.0000
19:44484356:CCTA:C	donor_loss	1.0000
19:44484358:TACC:T	donor_loss	1.0000
19:44484359:A:T	donor_loss	1.0000
19:44484360:C:A	donor_loss	1.0000
19:44484435:CCTG:C	acceptor_loss	1.0000
19:44484436:C:G	acceptor_loss	1.0000
19:44484437:T:A	acceptor_loss	1.0000
19:44484445:C:CT	acceptor_gain	1.0000
19:44484446:A:T	acceptor_gain	1.0000

AlphaMissense

4485 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000089418 (19:44474625 G>A), RS1000177809 (19:44498282 G>C), RS1000331205 (19:44492489 G>A), RS1000606991 (19:44486240 A>G), RS1000712287 (19:44479948 G>A), RS1000762218 (19:44499188 G>A,T), RS1000936275 (19:44480400 T>C,G), RS1001062707 (19:44486590 C>A), RS1001230388 (19:44486627 G>A), RS1001302615 (19:44498514 G>A), RS1001449744 (19:44490724 T>C), RS1001606204 (19:44482817 C>A), RS1001707403 (19:44475930 A>T), RS1001818602 (19:44486964 A>C), RS1001832553 (19:44492220 C>T)

Disease associations

OMIM: gene MIM:606740 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000273_1	Personality dimensions	9.000000e-07
GCST000273_4	Personality dimensions	8.000000e-06
GCST005950_15	Body mass index x sex x age interaction (4df test)	2.000000e-10
GCST005951_56	Body mass index	1.000000e-06
GCST005952_8	Body mass index (age>50)	9.000000e-12
GCST005954_4	Body mass index x age interaction	2.000000e-07
GCST010245_196	LDL cholesterol levels	2.000000e-33

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004365	personality trait
EFO:0004340	body mass index
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004611	low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	2
Acrolein	affects cotreatment, decreases expression, increases abundance	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance	2
Ozone	increases abundance, affects cotreatment, decreases expression	2
Valproic Acid	decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
TAK-243	increases sumoylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
jinfukang	decreases expression	1
Atrazine	increases expression	1
Diazinon	increases methylation	1
Formaldehyde	decreases expression	1
Selenium	decreases expression	1
Testosterone	increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Urethane	decreases expression	1
Vitamin E	decreases expression	1
1-Methyl-4-phenylpyridinium	decreases expression	1
Cyclosporine	decreases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1
Volatile Organic Compounds	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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