ZNF551

Summary

ZNF551 (zinc finger protein 551, HGNC:25108) is a protein-coding gene on chromosome 19q13.43, encoding Zinc finger protein 551 (Q7Z340). 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. Predicted to be active in nucleus.

Source: NCBI Gene 90233 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 102 total
• MANE Select transcript: NM_138347

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25108
Approved symbol	ZNF551
Name	zinc finger protein 551
Location	19q13.43
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp686H1038
Ensembl gene	ENSG00000204519
Ensembl biotype	protein_coding
Entrez	90233

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000282296, ENST00000596085, ENST00000599402, ENST00000601064

RefSeq mRNA: 2 — MANE Select: NM_138347 NM_001270938, NM_138347

CCDS: CCDS12959

Canonical transcript exons

ENST00000282296 — 3 exons

Exon	Start	End
ENSE00003169144	57686481	57690648
ENSE00003200568	57681977	57682244
ENSE00003704678	57685262	57685385

Expression profiles

Bgee: expression breadth ubiquitous, 236 present calls, max score 85.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.2732 / max 87.8376, expressed in 1564 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177791	5.6288	1546
177792	0.6444	355

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	85.64	gold quality
cortical plate	UBERON:0005343	83.20	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.41	gold quality
ganglionic eminence	UBERON:0004023	79.09	gold quality
right hemisphere of cerebellum	UBERON:0014890	79.05	gold quality
cerebellar hemisphere	UBERON:0002245	78.96	gold quality
cerebellar cortex	UBERON:0002129	78.87	gold quality
cerebellum	UBERON:0002037	78.07	gold quality
trabecular bone tissue	UBERON:0002483	77.96	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.59	gold quality
bone marrow	UBERON:0002371	77.02	gold quality
adrenal tissue	UBERON:0018303	76.63	gold quality
ventricular zone	UBERON:0003053	76.50	gold quality
oral cavity	UBERON:0000167	75.92	gold quality
nipple	UBERON:0002030	75.78	gold quality
embryo	UBERON:0000922	75.23	gold quality
sperm	CL:0000019	75.16	silver quality
right lobe of thyroid gland	UBERON:0001119	75.07	gold quality
left lobe of thyroid gland	UBERON:0001120	74.84	gold quality
thyroid gland	UBERON:0002046	74.49	gold quality
lower lobe of lung	UBERON:0008949	74.44	gold quality
adenohypophysis	UBERON:0002196	74.21	gold quality
colonic epithelium	UBERON:0000397	74.20	gold quality
islet of Langerhans	UBERON:0000006	73.99	gold quality
sural nerve	UBERON:0015488	73.54	gold quality
pituitary gland	UBERON:0000007	73.46	gold quality
superficial temporal artery	UBERON:0001614	73.41	silver quality
male germ cell	CL:0000015	73.13	silver quality
lymph node	UBERON:0000029	72.93	gold quality
skin of hip	UBERON:0001554	72.75	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.61

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2518.1	ZNF551	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605530

miRNA regulators (miRDB)

43 targeting ZNF551, 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-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-6882-5P	99.35	71.13	1206
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-4528	99.18	69.77	1936
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-1304-5P	98.90	68.58	1054
HSA-MIR-4724-5P	98.87	67.75	1324
HSA-MIR-367-5P	98.84	67.18	902

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zfp551	ENSMUSG00000034071
rattus_norvegicus	Zfp551	ENSRNOG00000068425

Paralogs (38): ZFX (ENSG00000005889), ZBTB11 (ENSG00000066422), ZFAT (ENSG00000066827), ZFY (ENSG00000067646), ZNF586 (ENSG00000083828), IKZF5 (ENSG00000095574), ZNF419 (ENSG00000105136), ZNF549 (ENSG00000121406), ZSCAN20 (ENSG00000121903), ZNF304 (ENSG00000131845), PRDM15 (ENSG00000141956), ZNF660 (ENSG00000144792), ZNF711 (ENSG00000147180), ZNF773 (ENSG00000152439), ZNF256 (ENSG00000152454), ZNF837 (ENSG00000152475), ZNF691 (ENSG00000164011), ZNF610 (ENSG00000167554), E4F1 (ENSG00000167967), ZNF562 (ENSG00000171466), ZNF561 (ENSG00000171469), ZNF584 (ENSG00000171574), ZIK1 (ENSG00000171649), ZNF570 (ENSG00000171827), ZSCAN2 (ENSG00000176371), ZNF552 (ENSG00000178935), ZNF154 (ENSG00000179909), ZNF792 (ENSG00000180884), ZNF793 (ENSG00000188227), ZNF548 (ENSG00000188785), ZNF79 (ENSG00000196152), ZNF418 (ENSG00000196724), ZNF772 (ENSG00000197128), ZNF583 (ENSG00000198440), ZNF480 (ENSG00000198464), ZNF134 (ENSG00000213762), ZNF587B (ENSG00000269343), ZNF8 (ENSG00000278129)

Protein

Protein identifiers

Zinc finger protein 551 — Q7Z340 (reviewed: Q7Z340)

Alternative names: Zinc finger protein KOX23

All UniProt accessions (3): Q7Z340, M0R209, M0R2M4

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 (3)

UniProt ID	Names	Canonical?
Q7Z340-1	1	yes
Q7Z340-2	2
Q7Z340-3	3

RefSeq proteins (2): NP_001257867, NP_612356* (*=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
IPR050331	Zinc_finger_PRDM4/PRDM1/PRDM14	Family

Pfam: PF00096, PF01352

UniProt features (25 total): zinc finger region 14, sequence conflict 3, splice variant 2, sequence variant 2, chain 1, domain 1, modified residue 1, cross-link 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z340-F1	66.06	0.30

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 (2): 126, 319

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway

MSigDB gene sets: 63 (showing top): BOYAULT_LIVER_CANCER_SUBCLASS_G1_UP, FISCHER_DREAM_TARGETS, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, JAK2_DN.V1_DN, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, KAT5_TARGET_GENES, TRIP13_TARGET_GENES, ZFP91_TARGET_GENES, ZNF528_TARGET_GENES, ZNF585B_TARGET_GENES, MIR34A_5P, MIR449A, MIR34C_5P

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (5): 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), 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	2
DNA-templated transcription	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
transcription by RNA polymerase II	1
negative regulation of RNA biosynthetic process	1
regulation of gene expression	1
regulation of RNA biosynthetic process	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
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ECE1	ZNF551	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (3): ZNF551 (Affinity Capture-MS), ZNF551 (Affinity Capture-MS), ZNF551 (Proximity Label-MS)

ESM2 similar proteins: A0JPL0, A6NK53, E7ETH6, E9Q8G5, O14628, P21506, P51508, Q09FC8, Q13360, Q2M218, Q2M3X9, Q2VY69, Q3KQV3, Q3SY52, Q4R882, Q5HY98, Q5REN4, Q5RES8, Q68DI1, Q6NX49, Q6P280, Q6PG37, Q6V9R5, Q6ZMW2, Q7Z340, Q86XU0, Q8IYI8, Q8N587, Q8N720, Q8N859, Q8NB42, Q8NDW4, Q8NEK5, Q8WXB4, Q96MR9, Q96MU6, Q96NG8, Q96NJ3, Q96SR6, Q9BR84

Diamond homologs: A2RRD8, A6NFI3, A6NM28, A8MUZ8, A8MWA4, B2RUI1, B4DU55, E9Q8G5, O43296, O43361, O75467, O75820, P0CH99, P0CI00, P10078, P16373, P16374, P17021, P17023, P17032, P17097, P17098, P21506, P51786, P52740, Q06732, Q08ER8, Q13106, Q13360, Q13398, Q14592, Q147U1, Q32M78, Q3KQV3, Q3MIS6, Q3SY52, Q571J5, Q5CZA5, Q5HY98, Q5R7I8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	91
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1400 predictions. Top by Δscore:

Variant	Effect	Δscore
19:57708935:TCA:T	donor_loss	1.0000
19:57708937:A:AC	donor_gain	1.0000
19:57708938:C:CA	donor_gain	1.0000
19:57708938:C:T	donor_loss	1.0000
19:57682241:TCAGG:T	donor_loss	0.9900
19:57682242:CAGGT:C	donor_loss	0.9900
19:57682243:AGGTG:A	donor_loss	0.9900
19:57682245:G:GC	donor_loss	0.9900
19:57682246:T:A	donor_loss	0.9900
19:57704846:ACCTT:A	donor_loss	0.9900
19:57704847:CCTTA:C	donor_loss	0.9900
19:57704848:CTTAC:C	donor_loss	0.9900
19:57704849:TTACC:T	donor_loss	0.9900
19:57704850:TA:T	donor_loss	0.9900
19:57708937:AC:A	donor_gain	0.9900
19:57708938:CC:C	donor_gain	0.9900
19:57708938:CCT:C	donor_gain	0.9900
19:57708938:CCTG:C	donor_gain	0.9900
19:57708938:CCTGA:C	donor_gain	0.9900
19:57702786:CAT:C	acceptor_gain	0.9800
19:57685260:AG:A	acceptor_gain	0.9700
19:57685261:GG:G	acceptor_gain	0.9700
19:57702655:G:GT	donor_gain	0.9700
19:57682245:G:GG	donor_gain	0.9600
19:57697837:CACAG:C	acceptor_gain	0.9600
19:57708934:CTCA:C	donor_gain	0.9600
19:57697839:CAG:C	acceptor_gain	0.9500
19:57702787:ATC:A	acceptor_loss	0.9500
19:57702788:TCT:T	acceptor_loss	0.9500
19:57702789:CT:C	acceptor_loss	0.9500

AlphaMissense

4516 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:57687557:T:C	F428L	0.998
19:57687559:T:A	F428L	0.998
19:57687559:T:G	F428L	0.998
19:57687725:T:C	F484L	0.998
19:57687727:T:A	F484L	0.998
19:57687727:T:G	F484L	0.998
19:57687809:T:C	F512L	0.998
19:57687811:T:A	F512L	0.998
19:57687811:T:G	F512L	0.998
19:57688061:T:C	F596L	0.998
19:57688063:T:A	F596L	0.998
19:57688063:T:G	F596L	0.998
19:57687473:T:C	F400L	0.997
19:57687475:T:A	F400L	0.997
19:57687475:T:G	F400L	0.997
19:57687641:T:C	F456L	0.997
19:57687643:T:A	F456L	0.997
19:57687643:T:G	F456L	0.997
19:57687828:T:C	L518P	0.997
19:57687977:T:C	F568L	0.997
19:57687979:T:A	F568L	0.997
19:57687979:T:G	F568L	0.997
19:57688229:T:C	F652L	0.997
19:57688231:T:A	F652L	0.997
19:57688231:T:G	F652L	0.997
19:57687744:T:C	L490P	0.996
19:57687754:C:A	H493Q	0.996
19:57687754:C:G	H493Q	0.996
19:57687816:G:C	R514P	0.996
19:57687576:T:C	L434P	0.995

dbSNP variants (sampled 300 via entrez): RS1000223401 (19:57687995 C>T), RS1000811365 (19:57680308 G>A), RS1001096376 (19:57680659 A>G), RS1001100668 (19:57683306 T>C), RS1001706234 (19:57684203 G>T), RS1001712274 (19:57680452 C>A), RS1001763121 (19:57680835 A>C), RS1002155662 (19:57685200 G>T), RS1002220606 (19:57683935 T>C), RS1002457399 (19:57690391 A>G), RS1002612334 (19:57683727 G>A), RS1002740250 (19:57690058 G>A), RS1002820499 (19:57682727 G>A), RS1002946021 (19:57685116 T>TGTGGGGAGAGG), RS1003074635 (19:57683939 G>A)

Disease associations

OMIM: gene `` | 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
GCST003945_12	Hepcidin/transferrin saturation ratio	3.000000e-07
GCST007647_2	Estimated glomerular filtration rate change in renal transplantation (recipient effect)	2.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007902	hepcidin:transferrin saturation ratio
EFO:0005199	renal transplant outcome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	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
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
ferrous chloride	decreases expression	1
epigallocatechin gallate	increases expression, affects cotreatment	1
pentabromodiphenyl ether	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Leflunomide	decreases expression	1
Arsenic	affects methylation	1
Calcitriol	decreases expression, affects cotreatment	1
Estradiol	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Niclosamide	decreases expression	1
Testosterone	affects cotreatment, decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	increases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

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