ZBTB41

Summary

ZBTB41 (zinc finger and BTB domain containing 41, HGNC:24819) is a protein-coding gene on chromosome 1q31.3, encoding Zinc finger and BTB domain-containing protein 41 (Q5SVQ8). 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 located in nucleus.

Source: NCBI Gene 360023 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 99 total
• MANE Select transcript: NM_194314

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24819
Approved symbol	ZBTB41
Name	zinc finger and BTB domain containing 41
Location	1q31.3
Locus type	gene with protein product
Status	Approved
Aliases	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924
Ensembl gene	ENSG00000177888
Ensembl biotype	protein_coding
Entrez	360023

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay

ENST00000367405, ENST00000467322, ENST00000868902, ENST00000958847

RefSeq mRNA: 1 — MANE Select: NM_194314 NM_194314

CCDS: CCDS30960

Canonical transcript exons

ENST00000367405 — 11 exons

Exon	Start	End
ENSE00001444438	197199354	197200590
ENSE00001924721	197153682	197160014
ENSE00003475427	197175010	197175115
ENSE00003484898	197180988	197181117
ENSE00003535711	197188292	197188439
ENSE00003551325	197191692	197191899
ENSE00003557958	197190762	197190831
ENSE00003652886	197172160	197172248
ENSE00003670845	197176564	197176670
ENSE00003693216	197178417	197178512
ENSE00003900197	197201223	197201293

Expression profiles

Bgee: expression breadth ubiquitous, 242 present calls, max score 96.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7467 / max 172.2434, expressed in 1716 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16499	9.1764	1704
16500	0.5703	235

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	96.64	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.91	gold quality
epithelial cell of pancreas	CL:0000083	92.08	gold quality
germinal epithelium of ovary	UBERON:0001304	91.70	gold quality
oviduct epithelium	UBERON:0004804	91.67	gold quality
palpebral conjunctiva	UBERON:0001812	88.84	gold quality
visceral pleura	UBERON:0002401	87.20	gold quality
parietal pleura	UBERON:0002400	87.03	gold quality
cerebellar vermis	UBERON:0004720	86.40	gold quality
cortical plate	UBERON:0005343	86.06	gold quality
islet of Langerhans	UBERON:0000006	85.87	gold quality
tibia	UBERON:0000979	85.62	gold quality
mammary duct	UBERON:0001765	85.54	gold quality
epithelium of mammary gland	UBERON:0003244	85.48	gold quality
ileal mucosa	UBERON:0000331	85.40	gold quality
calcaneal tendon	UBERON:0003701	85.11	gold quality
pigmented layer of retina	UBERON:0001782	84.98	gold quality
adrenal tissue	UBERON:0018303	84.82	gold quality
substantia nigra pars compacta	UBERON:0001965	84.51	gold quality
primary visual cortex	UBERON:0002436	84.48	gold quality
thymus	UBERON:0002370	84.24	silver quality
medial globus pallidus	UBERON:0002477	83.90	gold quality
epithelium of nasopharynx	UBERON:0001951	83.74	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.65	gold quality
corpus callosum	UBERON:0002336	83.62	gold quality
skin of hip	UBERON:0001554	83.50	gold quality
occipital lobe	UBERON:0002021	83.37	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.29	gold quality
deltoid	UBERON:0001476	83.00	gold quality
tendon	UBERON:0000043	82.94	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.36
E-MTAB-6142	no	25.47

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2510.1	ZBTB41	Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605320

miRNA regulators (miRDB)

440 targeting ZBTB41, 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-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	zbtb41	ENSDARG00000054984
mus_musculus	Zbtb41	ENSMUSG00000033964
rattus_norvegicus	Zbtb41	ENSRNOG00000081235

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), ZNF547 (ENSG00000152433), ZNF776 (ENSG00000152443), ZNF230 (ENSG00000159882), ZNF222 (ENSG00000159885), ZNF233 (ENSG00000159915), ZNF333 (ENSG00000160961), ZNF319 (ENSG00000166188), ZNF592 (ENSG00000166716), ZNF646 (ENSG00000167395), ZNF507 (ENSG00000168813), ZNF768 (ENSG00000169957), ZNF417 (ENSG00000173480), ZNF408 (ENSG00000175213), 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 and BTB domain-containing protein 41 — Q5SVQ8 (reviewed: Q5SVQ8)

All UniProt accessions (1): Q5SVQ8

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5SVQ8-1	1	yes
Q5SVQ8-2	2

RefSeq proteins (1): NP_919290* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF00651

UniProt features (24 total): zinc finger region 14, compositionally biased region 3, splice variant 2, chain 1, domain 1, region of interest 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SVQ8-F1	61.91	0.08

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 243 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, WWTAAGGC_UNKNOWN, ATTCTTT_MIR186, TGANTCA_AP1_C, DOUGLAS_BMI1_TARGETS_DN, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, NRF2_01, ETF_Q6, STAT1_02, SCGGAAGY_ELK1_02, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, MGGAAGTG_GABP_B, AAGCACA_MIR218, ETS_Q4, GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D

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 (1): 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
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
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

702 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZBTB41	SOWAHD	A6NJG2	580
ZBTB41	CFHR4	Q92496	488
ZBTB41	PTAR1	Q7Z6K3	440
ZBTB41	CFHR1	Q03591	437
ZBTB41	CFHR5	Q9BXR6	410
ZBTB41	NKAPL	Q5M9Q1	405
ZBTB41	SACS	Q9NZJ4	390
ZBTB41	HELZ	P42694	377
ZBTB41	SNX16	P57768	373
ZBTB41	HABP2	Q14520	363
ZBTB41	NFXL1	Q6ZNB6	362
ZBTB41	NTHL1	P78549	351
ZBTB41	POLE	Q07864	351
ZBTB41	RECQL	P46063	351
ZBTB41	KCNT2	Q6UVM3	346

IntAct

9 interactions, top by confidence:

A	B	Type	Score
Evpl	RAD9A	psi-mi:“MI:0914”(association)	0.350
rl3_rl3l_human	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
RPL36	GTPBP10	psi-mi:“MI:0914”(association)	0.350
ADARB1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
RPL13		psi-mi:“MI:0914”(association)	0.350
RPLP0	ZNF320	psi-mi:“MI:0914”(association)	0.350
RPL7A	GTPBP10	psi-mi:“MI:0914”(association)	0.350
RPL13	POLRMT	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): ZBTB41 (Affinity Capture-MS), ZBTB41 (Affinity Capture-MS), ZBTB41 (Affinity Capture-RNA), ZBTB41 (Affinity Capture-RNA), ZBTB41 (Affinity Capture-MS), ZBTB41 (Affinity Capture-MS), ZBTB41 (Affinity Capture-MS), ZBTB41 (Affinity Capture-MS), ZBTB41 (Affinity Capture-MS), ZBTB41 (Affinity Capture-MS), ZBTB41 (Cross-Linking-MS (XL-MS)), ZBTB41 (Cross-Linking-MS (XL-MS)), ZBTB41 (Cross-Linking-MS (XL-MS)), ZBTB41 (Affinity Capture-MS), ZBTB41 (Affinity Capture-RNA)

ESM2 similar proteins: A0JPB4, A1L1J6, A4IFJ6, D3ZUU2, E9Q8T2, G5E8B9, O08954, O15060, O42409, O43623, O57415, O70237, O75626, O95625, P19382, P25932, P36197, P37275, P97469, Q20082, Q2EI20, Q3MHQ4, Q3UH06, Q4VBD9, Q5DU09, Q5R9W9, Q5SVQ8, Q5T0B9, Q5ZLR2, Q60542, Q60636, Q62947, Q64318, Q6DCW1, Q6GNP2, Q6INV8, Q6NRM0, Q7TS63, Q7ZVR6, Q80X44

Diamond homologs: A1L2U9, A2A884, A2ANX9, B0X0K1, B0X9H6, B0XS89, B1WAZ8, B1WBU4, E9PZZ1, E9Q6W4, G5EBU4, O15090, O60315, O62836, O73694, O75362, O77459, P08048, P10925, P15822, P17010, P17012, P20662, P26635, P28166, P28575, P28698, P31509, P31629, P36197, P52739, P53243, P60319, P78871, P80944, Q00453, Q00900, Q01800, Q02026, Q02027

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	78
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1116 predictions. Top by Δscore:

Variant	Effect	Δscore
1:197167790:A:C	donor_gain	1.0000
1:197167849:T:A	donor_gain	1.0000
1:197175005:CTTA:C	donor_gain	1.0000
1:197175006:TTACT:T	donor_loss	1.0000
1:197175007:TAC:T	donor_loss	1.0000
1:197175008:A:AC	donor_gain	1.0000
1:197175009:C:A	donor_loss	1.0000
1:197175009:C:CA	donor_gain	1.0000
1:197175009:CT:C	donor_gain	1.0000
1:197175009:CTT:C	donor_gain	1.0000
1:197175009:CTTT:C	donor_gain	1.0000
1:197175009:CTTTT:C	donor_gain	1.0000
1:197175113:CACCT:C	acceptor_gain	1.0000
1:197175115:CCT:C	acceptor_gain	1.0000
1:197175115:CCTTA:C	acceptor_loss	1.0000
1:197175116:C:CC	acceptor_gain	1.0000
1:197175117:T:C	acceptor_gain	1.0000
1:197175117:T:TC	acceptor_gain	1.0000
1:197175122:A:AC	acceptor_gain	1.0000
1:197176559:TATAC:T	donor_loss	1.0000
1:197176560:ATAC:A	donor_loss	1.0000
1:197176561:TA:T	donor_loss	1.0000
1:197176563:C:CT	donor_loss	1.0000
1:197176666:GAAGT:G	acceptor_gain	1.0000
1:197176667:AAGT:A	acceptor_gain	1.0000
1:197176668:AGT:A	acceptor_gain	1.0000
1:197176669:GT:G	acceptor_gain	1.0000
1:197176670:TCTA:T	acceptor_loss	1.0000
1:197176671:C:CC	acceptor_gain	1.0000
1:197176671:C:CG	acceptor_loss	1.0000

AlphaMissense

6074 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:197159873:A:G	L739P	1.000
1:197159890:A:C	F733L	1.000
1:197159890:A:T	F733L	1.000
1:197159891:A:G	F733S	1.000
1:197159892:A:G	F733L	1.000
1:197159913:A:G	C726R	1.000
1:197159935:A:C	H718Q	1.000
1:197159935:A:T	H718Q	1.000
1:197159947:G:C	H714Q	1.000
1:197159947:G:T	H714Q	1.000
1:197159974:A:C	F705L	1.000
1:197159974:A:T	F705L	1.000
1:197159975:A:G	F705S	1.000
1:197159976:A:G	F705L	1.000
1:197159986:G:C	C701W	1.000
1:197159987:C:T	C701Y	1.000
1:197159988:A:G	C701R	1.000
1:197159997:A:G	C698R	1.000
1:197172226:A:G	C670R	1.000
1:197175058:A:G	L646P	1.000
1:197175075:A:C	F640L	1.000
1:197175075:A:T	F640L	1.000
1:197175077:A:G	F640L	1.000
1:197175098:A:G	C633R	1.000
1:197176590:A:G	L618P	1.000
1:197176607:A:C	F612L	1.000
1:197176607:A:T	F612L	1.000
1:197176608:A:G	F612S	1.000
1:197176609:A:G	F612L	1.000
1:197176630:A:G	C605R	1.000

dbSNP variants (sampled 300 via entrez): RS1000014055 (1:197183434 C>G), RS1000146916 (1:197153219 T>C), RS1000150979 (1:197183650 C>A,G), RS1000289961 (1:197154041 C>T), RS1000299612 (1:197168924 G>A), RS1000381008 (1:197182697 G>T), RS1000412567 (1:197195633 G>A,C), RS1000455808 (1:197162649 T>TA), RS1000511399 (1:197163595 G>A), RS1000582973 (1:197157393 T>C), RS1000608929 (1:197202747 G>T), RS1000635424 (1:197157077 C>T), RS1000636632 (1:197170781 A>C), RS1000650654 (1:197189325 A>G), RS1000788454 (1:197164015 A>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

2 associations (top):

Study	Trait	p-value
GCST001899_1	Age-related macular degeneration	1.000000e-16
GCST002479_5	Lupus nephritis in systemic lupus erythematosus	5.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression, affects expression	6
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance	2
Tetrachlorodibenzodioxin	affects expression, decreases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
butyraldehyde	decreases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
fenpyroximate	decreases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
jinfukang	decreases expression	1
picoxystrobin	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Antimycin A	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Dimethyl Sulfoxide	increases expression	1
Gold	decreases expression	1
Indomethacin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Niclosamide	increases expression	1
Ozone	affects cotreatment, decreases expression, increases abundance	1
Plant Extracts	increases expression, affects cotreatment	1
Tobacco Smoke Pollution	affects expression	1

Clinical trials (associated diseases)

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