ZNF547

Summary

ZNF547 (zinc finger protein 547, HGNC:26432) is a protein-coding gene on chromosome 19q13.43, encoding Zinc finger protein 547 (Q8IVP9). 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 284306 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 65 total
• MANE Select transcript: NM_173631

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26432
Approved symbol	ZNF547
Name	zinc finger protein 547
Location	19q13.43
Locus type	gene with protein product
Status	Approved
Aliases	FLJ31100
Ensembl gene	ENSG00000152433
Ensembl biotype	protein_coding
Entrez	284306

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay

ENST00000282282, ENST00000595335, ENST00000597567, ENST00000599604, ENST00000879319

RefSeq mRNA: 1 — MANE Select: NM_173631 NM_173631

CCDS: CCDS33131

Canonical transcript exons

ENST00000282282 — 4 exons

Exon	Start	End
ENSE00001005190	57377128	57379565
ENSE00003516121	57371782	57371908
ENSE00003619128	57368544	57368579
ENSE00003671371	57363551	57363703

Expression profiles

Bgee: expression breadth ubiquitous, 173 present calls, max score 86.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.6705 / max 113.8635, expressed in 1801 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177769	18.6705	1801

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.15	gold quality
cerebellar hemisphere	UBERON:0002245	79.47	gold quality
cerebellar cortex	UBERON:0002129	79.32	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.82	gold quality
cerebellum	UBERON:0002037	77.54	gold quality
stromal cell of endometrium	CL:0002255	77.09	gold quality
embryo	UBERON:0000922	75.56	gold quality
ganglionic eminence	UBERON:0004023	75.56	gold quality
right adrenal gland cortex	UBERON:0035827	74.88	gold quality
muscle of leg	UBERON:0001383	74.73	gold quality
gastrocnemius	UBERON:0001388	74.68	gold quality
right adrenal gland	UBERON:0001233	74.59	gold quality
left adrenal gland	UBERON:0001234	74.41	gold quality
left adrenal gland cortex	UBERON:0035825	74.41	gold quality
adrenal tissue	UBERON:0018303	74.35	gold quality
hindlimb stylopod muscle	UBERON:0004252	73.85	gold quality
right frontal lobe	UBERON:0002810	73.62	gold quality
adenohypophysis	UBERON:0002196	73.52	gold quality
ventricular zone	UBERON:0003053	72.85	gold quality
adrenal gland	UBERON:0002369	72.59	gold quality
cortical plate	UBERON:0005343	72.42	gold quality
adrenal cortex	UBERON:0001235	72.12	gold quality
right uterine tube	UBERON:0001302	72.04	gold quality
apex of heart	UBERON:0002098	71.95	gold quality
Brodmann (1909) area 9	UBERON:0013540	71.93	gold quality
spleen	UBERON:0002106	71.78	gold quality
pituitary gland	UBERON:0000007	71.51	gold quality
right atrium auricular region	UBERON:0006631	71.51	gold quality
right lobe of thyroid gland	UBERON:0001119	71.38	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.22

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2334.1	ZNF547	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:28273063

miRNA regulators (miRDB)

82 targeting ZNF547, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349

Cross-species orthologs

0 orthologs

Paralogs (51): WIZ (ENSG00000011451), ZNF416 (ENSG00000083817), MYNN (ENSG00000085274), PRDM4 (ENSG00000110851), PRDM2 (ENSG00000116731), ZBTB17 (ENSG00000116809), ZNF644 (ENSG00000122482), GZF1 (ENSG00000125812), ZNF426 (ENSG00000130818), ZNF287 (ENSG00000141040), ZNF697 (ENSG00000143067), ZNF687 (ENSG00000143373), ZNF214 (ENSG00000149050), ZNF776 (ENSG00000152443), ZNF230 (ENSG00000159882), ZNF222 (ENSG00000159885), ZNF233 (ENSG00000159915), ZNF333 (ENSG00000160961), ZNF319 (ENSG00000166188), ZNF592 (ENSG00000166716), ZNF646 (ENSG00000167395), ZNF507 (ENSG00000168813), ZNF768 (ENSG00000169957), ZNF417 (ENSG00000173480), ZNF408 (ENSG00000175213), ZBTB41 (ENSG00000177888), ZNF223 (ENSG00000178386), ZNF852 (ENSG00000178917), ZNF784 (ENSG00000179922), ZNF572 (ENSG00000180938), ZNF707 (ENSG00000181135), ZNF746 (ENSG00000181220), ZNF467 (ENSG00000181444), ZNF530 (ENSG00000183647), ZNF17 (ENSG00000186272), ZNF527 (ENSG00000189164), ZKSCAN7 (ENSG00000196345), ZNF34 (ENSG00000196378), ZNF774 (ENSG00000196391), ZNF777 (ENSG00000196453)

Protein

Protein identifiers

Zinc finger protein 547 — Q8IVP9 (reviewed: Q8IVP9)

All UniProt accessions (4): Q8IVP9, M0QX63, M0QYW2, M0QZZ8

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 (2)

UniProt ID	Names	Canonical?
Q8IVP9-1	1	yes
Q8IVP9-2	2

RefSeq proteins (1): NP_775902* (*=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

Pfam: PF00096, PF01352, PF13465

UniProt features (14 total): zinc finger region 10, splice variant 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IVP9-F1	69.66	0.18

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-212436	Generic Transcription Pathway
R-HSA-9843940	Regulation of endogenous retroelements by KRAB-ZFP proteins

MSigDB gene sets: 52 (showing top): WTGAAAT_UNKNOWN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, PPARA_01, YY1_01, TGGAAA_NFAT_Q4_01, TCANNTGAY_SREBP1_01, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, REACTOME_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, BANP_TARGET_GENES, CEBPZ_TARGET_GENES, HES2_TARGET_GENES, NCOA6_TARGET_GENES, ZFP91_TARGET_GENES, ZNF322_TARGET_GENES

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

GO Molecular Function (7): 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), double-stranded DNA binding (GO:0003690), protein binding (GO:0005515), metal ion binding (GO:0046872)

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

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RNA Polymerase II Transcription	1
Regulation of endogenous retroelements	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
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
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
DNA binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

134 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF547	MVK	Q03426	64
ZNF547	NME8	Q8N427	62
ZNF547	SPAG17	Q6Q759	60
ZNF547	MED14	O60244	57
ZNF547	LRGUK	Q96M69	47
ZNF547	TUT1	Q9H6E5	45
ZNF547	MRPS34	P82930	42
ZNF547	NME3	Q13232	42
ZNF547	NME4	O00746	42
ZNF547	NME5	P56597	42
ZNF547	NME6	O75414	42
ZNF547	NME1	P15531	42
ZNF547	NME2	P22392	42
ZNF547	Q32Q12	Q32Q12	42
ZNF547	NME7	Q9Y5B8	42

IntAct

34 interactions, top by confidence:

A	B	Type	Score
ZNF250	ZNF547	psi-mi:“MI:0915”(physical association)	0.560
ZNF547	ZNF330	psi-mi:“MI:0915”(physical association)	0.560
ZNF547	PCSK5	psi-mi:“MI:0915”(physical association)	0.560
ZNF547	GPATCH2L	psi-mi:“MI:0915”(physical association)	0.560
ZNF547	MAGOHB	psi-mi:“MI:0915”(physical association)	0.560
ZNF547	ZNF417	psi-mi:“MI:0915”(physical association)	0.560
ZNF547	ZNF587	psi-mi:“MI:0915”(physical association)	0.560
ZNF547	SCNM1	psi-mi:“MI:0915”(physical association)	0.560
ZNF547	MAPRE3	psi-mi:“MI:0915”(physical association)	0.560
POLR1C	ZNF547	psi-mi:“MI:0915”(physical association)	0.560
ZNF547	ARPC4-TTLL3	psi-mi:“MI:0914”(association)	0.350
ZNF250	ZNF547	psi-mi:“MI:0915”(physical association)	0.000
ZNF330	ZNF547	psi-mi:“MI:0915”(physical association)	0.000
PCSK5	ZNF547	psi-mi:“MI:0915”(physical association)	0.000
GPATCH2L	ZNF547	psi-mi:“MI:0915”(physical association)	0.000
MAGOHB	ZNF547	psi-mi:“MI:0915”(physical association)	0.000
ZNF417	ZNF547	psi-mi:“MI:0915”(physical association)	0.000
SCNM1	ZNF547	psi-mi:“MI:0915”(physical association)	0.000
ZNF587	ZNF547	psi-mi:“MI:0915”(physical association)	0.000
MAPRE3	ZNF547	psi-mi:“MI:0915”(physical association)	0.000
POLR1C	ZNF547	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (16): ZNF547 (Two-hybrid), ZNF547 (Two-hybrid), ZNF547 (Two-hybrid), ZNF547 (Two-hybrid), ZNF547 (Two-hybrid), SCNM1 (Two-hybrid), POLR1C (Two-hybrid), ZNF417 (Two-hybrid), ZNF250 (Two-hybrid), ZNF587 (Two-hybrid), ZYG11A (Affinity Capture-MS), SART3 (Affinity Capture-MS), TUT1 (Affinity Capture-MS), CDCA4 (Affinity Capture-MS), ARPC4-TTLL3 (Affinity Capture-MS)

ESM2 similar proteins: A0JNB1, A1YF12, A1YG88, A2T759, A3KN32, B2RUI1, O43296, O75123, P10072, P17020, P17097, P51814, P52736, P52740, Q07230, Q08ER8, Q13398, Q14590, Q32KN0, Q3KQV3, Q3MIS6, Q4V8A8, Q5CZA5, Q5RBQ3, Q5RBX0, Q5RCD9, Q5RCX4, Q6GQR8, Q6NX45, Q6P9A3, Q6PK81, Q7TSH9, Q7TSI0, Q7Z7L9, Q86UD4, Q8BFS8, Q8BLB0, Q8IVP9, Q8IZ26, Q8N9F8

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

732 predictions. Top by Δscore:

Variant	Effect	Δscore
19:57364799:C:A	acceptor_gain	1.0000
19:57371780:AG:A	acceptor_gain	1.0000
19:57371781:GG:G	acceptor_gain	1.0000
19:57371906:TAGG:T	donor_loss	1.0000
19:57371906:TAGGT:T	donor_loss	1.0000
19:57371907:AGG:A	donor_loss	1.0000
19:57371909:G:A	donor_loss	1.0000
19:57371909:GTAAG:G	donor_loss	1.0000
19:57371910:T:A	donor_loss	1.0000
19:57363700:CGAGG:C	donor_loss	0.9900
19:57363701:GAGGT:G	donor_loss	0.9900
19:57363702:AGGT:A	donor_loss	0.9900
19:57363703:GGTG:G	donor_loss	0.9900
19:57363704:G:GA	donor_loss	0.9900
19:57363705:T:A	donor_loss	0.9900
19:57368542:AG:A	acceptor_gain	0.9900
19:57368543:GG:G	acceptor_gain	0.9900
19:57368576:ACAG:A	donor_loss	0.9900
19:57368580:G:T	donor_loss	0.9900
19:57368581:T:A	donor_loss	0.9900
19:57371776:T:TA	acceptor_gain	0.9900
19:57371777:G:A	acceptor_gain	0.9900
19:57371777:GGCA:G	acceptor_loss	0.9900
19:57371778:GCAG:G	acceptor_loss	0.9900
19:57371779:CAG:C	acceptor_loss	0.9900
19:57371780:A:AG	acceptor_gain	0.9900
19:57371780:A:G	acceptor_loss	0.9900
19:57371781:G:GC	acceptor_loss	0.9900
19:57371781:G:GG	acceptor_gain	0.9900
19:57371781:GGGT:G	acceptor_gain	0.9900

AlphaMissense

2685 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:57377637:T:C	F221L	0.993
19:57377639:T:A	F221L	0.993
19:57377639:T:G	F221L	0.993
19:57378057:T:C	F361L	0.993
19:57378059:C:A	F361L	0.993
19:57378059:C:G	F361L	0.993
19:57378002:C:A	H342Q	0.986
19:57378002:C:G	H342Q	0.986
19:57377721:T:C	F249L	0.985
19:57377723:T:A	F249L	0.985
19:57377723:T:G	F249L	0.985
19:57377973:T:C	F333L	0.985
19:57377975:C:A	F333L	0.985
19:57377975:C:G	F333L	0.985
19:57378004:A:C	Q343P	0.985
19:57378000:C:G	H342D	0.984
19:57377918:T:A	H314Q	0.983
19:57377918:T:G	H314Q	0.983
19:57378076:T:C	L367P	0.983
19:57377916:C:G	H314D	0.982
19:57377992:T:C	L339P	0.982
19:57377656:T:C	L227P	0.978
19:57377750:T:A	H258Q	0.978
19:57377750:T:G	H258Q	0.978
19:57377469:T:C	F165L	0.977
19:57377471:T:A	F165L	0.977
19:57377471:T:G	F165L	0.977
19:57377638:T:C	F221S	0.977
19:57377553:T:C	F193L	0.975
19:57377555:T:A	F193L	0.975

dbSNP variants (sampled 300 via entrez): RS1000249014 (19:57366030 A>C,T), RS1000614090 (19:57370850 C>T), RS1000630374 (19:57376728 A>T), RS1000872006 (19:57362631 A>T), RS1001179812 (19:57376652 T>C,G), RS1001210762 (19:57371485 A>T), RS1001283863 (19:57367950 C>G), RS1001557706 (19:57379947 G>T), RS1002040111 (19:57375990 C>T), RS1002064148 (19:57369962 G>A), RS1002242746 (19:57361838 T>A), RS1002445384 (19:57375323 C>G), RS1002588813 (19:57375438 G>A), RS1002656664 (19:57379729 G>A,C), RS1002763452 (19:57373893 G>T)

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

1 associations (top):

Study	Trait	p-value
GCST010923_9	Beta blocker survival benefit in heart failure with reduced ejection fraction (time to all cause mortality x beta blocker interaction)	6.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004352	mortality
EFO:0007766	response to beta blocker

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
propionaldehyde	increases expression	1
titanium dioxide	decreases expression	1
ethyl-p-hydroxybenzoate	increases expression	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
licochalcone B	increases expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	increases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases abundance, increases expression	1
Methyl Methanesulfonate	increases expression	1
Phenylmercuric Acetate	affects cotreatment, increases expression	1
Phthalic Acids	increases methylation	1
Rotenone	decreases expression	1
Smoke	decreases expression	1
Sodium Dodecyl Sulfate	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Copper Sulfate	affects expression	1
Acrylamide	increases expression	1
S-Nitrosoglutathione	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_HD27	HEK293 eGFP-ZNF547	Transformed cell line	Female

Clinical trials (associated diseases)

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