ZBTB44

Summary

ZBTB44 (zinc finger and BTB domain containing 44, HGNC:25001) is a protein-coding gene on chromosome 11q24.3, encoding Zinc finger and BTB domain-containing protein 44 (Q8NCP5). May be involved in transcriptional regulation.

Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be located in nucleus.

Source: NCBI Gene 29068 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 59 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001301098

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25001
Approved symbol	ZBTB44
Name	zinc finger and BTB domain containing 44
Location	11q24.3
Locus type	gene with protein product
Status	Approved
Aliases	HSPC063, ZNF851
Ensembl gene	ENSG00000196323
Ensembl biotype	protein_coding
Entrez	29068

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 11 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000357899, ENST00000397753, ENST00000445008, ENST00000525623, ENST00000525842, ENST00000527478, ENST00000528448, ENST00000529348, ENST00000529982, ENST00000530205, ENST00000884638, ENST00000962913, ENST00000962914, ENST00000962915

RefSeq mRNA: 8 — MANE Select: NM_001301098 NM_001301098, NM_001301099, NM_001370219, NM_001370220, NM_001370221, NM_001370222, NM_001370223, NM_014155

CCDS: CCDS44776, CCDS73414, CCDS73415, CCDS91625

Canonical transcript exons

ENST00000357899 — 8 exons

Exon	Start	End
ENSE00001126571	130239812	130239896
ENSE00001195601	130236793	130237093
ENSE00001277720	130238444	130238607
ENSE00001382564	130260856	130261929
ENSE00002155538	130314375	130314917
ENSE00002156880	130226677	130231715
ENSE00003633271	130234156	130234273
ENSE00003646415	130233308	130233382

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 98.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.7291 / max 248.3128, expressed in 1791 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
123170	14.9766	1770
123165	2.1385	954
123169	1.0981	625
123168	0.9292	543
123164	0.8007	460
123167	0.3820	202
123171	0.3051	133
123166	0.0989	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	98.76	gold quality
renal medulla	UBERON:0000362	98.35	gold quality
biceps brachii	UBERON:0001507	98.10	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.91	gold quality
caput epididymis	UBERON:0004358	97.87	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.86	gold quality
mammary duct	UBERON:0001765	97.56	gold quality
corpus epididymis	UBERON:0004359	97.20	gold quality
nipple	UBERON:0002030	97.19	gold quality
germinal epithelium of ovary	UBERON:0001304	97.15	gold quality
cerebellar vermis	UBERON:0004720	97.10	gold quality
parietal pleura	UBERON:0002400	96.88	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.58	gold quality
visceral pleura	UBERON:0002401	96.45	gold quality
trabecular bone tissue	UBERON:0002483	96.45	gold quality
seminal vesicle	UBERON:0000998	96.20	gold quality
pigmented layer of retina	UBERON:0001782	96.16	gold quality
bronchial epithelial cell	CL:0002328	96.08	gold quality
superior surface of tongue	UBERON:0007371	96.07	gold quality
upper leg skin	UBERON:0004262	96.04	gold quality
penis	UBERON:0000989	95.88	gold quality
urethra	UBERON:0000057	95.63	gold quality
lateral globus pallidus	UBERON:0002476	95.50	gold quality
gingival epithelium	UBERON:0001949	95.47	gold quality
jejunum	UBERON:0002115	95.45	gold quality
body of tongue	UBERON:0011876	95.39	gold quality
globus pallidus	UBERON:0001875	95.34	gold quality
medial globus pallidus	UBERON:0002477	95.21	gold quality
postcentral gyrus	UBERON:0002581	95.20	gold quality
tibia	UBERON:0000979	95.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.15

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
CDKN2A

miRNA regulators (miRDB)

375 targeting ZBTB44, 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-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
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-3613-3P	100.00	76.36	7965
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3925-3P	100.00	69.95	1237
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
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-6077	99.99	68.04	2299

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	zbtb44	ENSDARG00000061110
mus_musculus	Zbtb44	ENSMUSG00000047412
rattus_norvegicus	Zbtb44	ENSRNOG00000005578
drosophila_melanogaster	Opbp	FBGN0050443

Paralogs (2): ZNF618 (ENSG00000157657), FIZ1 (ENSG00000179943)

Protein

Protein identifiers

Zinc finger and BTB domain-containing protein 44 — Q8NCP5 (reviewed: Q8NCP5)

Alternative names: BTB/POZ domain-containing protein 15, Zinc finger protein 851

All UniProt accessions (5): A0A0A0MTE9, Q8NCP5, H0YCZ0, H0YEM9, H7BY22

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8NCP5-1	1	yes
Q8NCP5-2	2
Q8NCP5-3	3
Q8NCP5-4	4

RefSeq proteins (8): NP_001288027, NP_001288028, NP_001357148, NP_001357149, NP_001357150, NP_001357151, NP_001357152, NP_054874 (=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 (27 total): modified residue 7, zinc finger region 4, splice variant 4, compositionally biased region 3, region of interest 3, cross-link 2, chain 1, domain 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NCP5-F1	55.17	0.08

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): 135, 159, 161, 165, 191, 194, 200, 4, 290

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 224 (showing top): GCACCTT_MIR18A_MIR18B, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, AAGCCAT_MIR135A_MIR135B, TACAATC_MIR508, CACCAGC_MIR138, TATCTGG_MIR488, TTGGAGA_MIR5155P_MIR519E, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, ZHANG_BREAST_CANCER_PROGENITORS_UP, CUI_TCF21_TARGETS_2_DN, CTGAGCC_MIR24, chr11q24, GABRIELY_MIR21_TARGETS, BRCA1_DN.V1_DN, IL15_UP.V1_DN

GO Biological Process (0):

GO Molecular Function (4): DNA binding (GO:0003677), zinc ion binding (GO:0008270), 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
nucleic acid binding	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

722 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZBTB44	MRPS14	O60783	539
ZBTB44	ZSWIM8	A7E2V4	528
ZBTB44	NBEAL1	Q6ZS30	472
ZBTB44	TAF9B	Q9HBM6	456
ZBTB44	BMS1	Q14692	454
ZBTB44	DDX52	Q9Y2R4	453
ZBTB44	SMURF2	Q9HAU4	442
ZBTB44	SLC39A13	Q96H72	427
ZBTB44	SERTAD4	Q9NUC0	424
ZBTB44	ZER1	Q7Z7L7	420
ZBTB44	CLEC17A	Q6ZS10	417
ZBTB44	SLC15A2	Q16348	416
ZBTB44	SACS	Q9NZJ4	400
ZBTB44	ECM1	Q16610	393
ZBTB44	RHOBTB3	O94955	386

IntAct

44 interactions, top by confidence:

A	B	Type	Score
SMYD1	ZBTB44	psi-mi:“MI:0915”(physical association)	0.740
ZBTB44	SMYD1	psi-mi:“MI:0915”(physical association)	0.740
ZBTB44	GLRX3	psi-mi:“MI:0915”(physical association)	0.560
RAD23A	ZBTB44	psi-mi:“MI:0915”(physical association)	0.560
ZBTB44	PSMA6	psi-mi:“MI:0915”(physical association)	0.560
ZBTB44	FAM124A	psi-mi:“MI:0915”(physical association)	0.560
WDFY3	ZBTB44	psi-mi:“MI:0915”(physical association)	0.560
ZBTB44	AP1M1	psi-mi:“MI:0915”(physical association)	0.560
POLI	ZBTB44	psi-mi:“MI:0915”(physical association)	0.560
ZBTB44	RAD23A	psi-mi:“MI:0915”(physical association)	0.560
PSMA6	ZBTB44	psi-mi:“MI:0915”(physical association)	0.560
ZBTB44	WDFY3	psi-mi:“MI:0915”(physical association)	0.560
ZBTB44	POLI	psi-mi:“MI:0915”(physical association)	0.560
PSG9	CCDC85C	psi-mi:“MI:0914”(association)	0.530
CAMK1G	RFWD3	psi-mi:“MI:0914”(association)	0.530
ZBTB44	ZBTB44	psi-mi:“MI:0915”(physical association)	0.370
APBA3	ZBTB44	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (84): ZBTB44 (Two-hybrid), ZBTB44 (Two-hybrid), ZBTB44 (Two-hybrid), ZBTB44 (Two-hybrid), ZBTB44 (Two-hybrid), ZBTB44 (Two-hybrid), ZBTB44 (Two-hybrid), SMYD1 (Two-hybrid), FAM124A (Two-hybrid), ZBTB44 (Affinity Capture-MS), ZBTB44 (Affinity Capture-MS), UBA3 (Affinity Capture-MS), MYH14 (Affinity Capture-MS), USP7 (Affinity Capture-MS), SCRIB (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5NS60, A0JN76, A1YFX5, A2T7G6, A6NJL1, D2HQI1, F1MJR8, O14901, P0CG00, P10754, P22227, P98182, Q0IJ29, Q1L8W0, Q3SWU4, Q5DW34, Q5EAC5, Q5EXX3, Q5RHB5, Q5SXI5, Q5T619, Q66H04, Q6NRM8, Q6NV66, Q6ZSB9, Q7M6U3, Q7TS63, Q7TSH3, Q7ZWZ4, Q801P1, Q86VK4, Q8BKX7, Q8BXX2, Q8NAM6, Q8NAP3, Q8NCP5, Q8R0A2, Q91VW9, Q96IT1, Q96N77

Diamond homologs: A0A2R8Q1W5, A9JRD8, B0WWP2, B3DIV9, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, D3Z8N4, D3ZUU2, E0CZ16, E1B932, E7F6F9, E9Q4F2, F1LZ52, F1LZF0, F1MBP6, G3X9X1, O15062, O93567, O94889, O95198, P28575, P57790, Q04652, Q08DK3, Q13105, Q14145, Q16RL8, Q1ECZ2, Q2M0J9, Q2TBA0, Q3SWU4, Q3ZB90

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	45
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
815477	GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1	Pathogenic

SpliceAI

1740 predictions. Top by Δscore:

Variant	Effect	Δscore
11:130233306:A:AC	donor_gain	1.0000
11:130233307:C:CC	donor_gain	1.0000
11:130233997:A:AC	donor_gain	1.0000
11:130233998:A:C	donor_gain	1.0000
11:130236763:T:TA	donor_gain	1.0000
11:130236787:CCTCA:C	donor_loss	1.0000
11:130236788:CTCAC:C	donor_loss	1.0000
11:130236789:TCA:T	donor_loss	1.0000
11:130236790:CAC:C	donor_loss	1.0000
11:130236791:A:C	donor_loss	1.0000
11:130236792:CCTG:C	donor_gain	1.0000
11:130237089:AATTC:A	acceptor_gain	1.0000
11:130237090:ATTC:A	acceptor_gain	1.0000
11:130237091:TTC:T	acceptor_gain	1.0000
11:130237092:TC:T	acceptor_gain	1.0000
11:130237093:CC:C	acceptor_gain	1.0000
11:130237094:C:CC	acceptor_gain	1.0000
11:130237094:C:CG	acceptor_loss	1.0000
11:130237095:T:C	acceptor_loss	1.0000
11:130238442:A:AG	donor_loss	1.0000
11:130238443:CCTG:C	donor_loss	1.0000
11:130239806:A:AC	donor_gain	1.0000
11:130239807:C:CC	donor_gain	1.0000
11:130239808:TGA:T	donor_loss	1.0000
11:130239809:GA:G	donor_loss	1.0000
11:130239810:A:AC	donor_gain	1.0000
11:130239810:ACCGA:A	donor_loss	1.0000
11:130239811:C:CC	donor_gain	1.0000
11:130239811:C:CG	donor_loss	1.0000
11:130239897:C:CC	acceptor_gain	1.0000

AlphaMissense

3767 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:130236873:G:C	F496L	1.000
11:130236873:G:T	F496L	1.000
11:130236874:A:G	F496S	1.000
11:130236875:A:G	F496L	1.000
11:130237053:G:C	F436L	1.000
11:130237053:G:T	F436L	1.000
11:130237054:A:G	F436S	1.000
11:130237055:A:G	F436L	1.000
11:130238470:A:G	L414P	1.000
11:130238487:G:C	F408L	1.000
11:130238487:G:T	F408L	1.000
11:130238488:A:G	F408S	1.000
11:130238489:A:G	F408L	1.000
11:130238508:A:C	C401W	1.000
11:130238509:C:G	C401S	1.000
11:130238510:A:G	C401R	1.000
11:130238510:A:T	C401S	1.000
11:130236874:A:C	F496C	0.999
11:130236969:G:C	F464L	0.999
11:130236969:G:T	F464L	0.999
11:130236971:A:G	F464L	0.999
11:130236992:A:G	C457R	0.999
11:130237028:G:C	H445D	0.999
11:130237036:A:G	L442P	0.999
11:130237047:C:A	R438S	0.999
11:130237047:C:G	R438S	0.999
11:130237048:C:A	R438M	0.999
11:130237067:A:G	C432R	0.999
11:130237076:A:G	C429R	0.999
11:130237080:A:C	F427L	0.999

dbSNP variants (sampled 300 via entrez): RS1000011780 (11:130303041 T>C,G), RS1000015652 (11:130266536 A>G), RS1000027205 (11:130282642 C>G,T), RS1000083558 (11:130248752 A>G), RS1000148684 (11:130299188 A>G), RS1000167481 (11:130307333 G>A), RS1000201183 (11:130287964 A>AC), RS1000216185 (11:130244951 G>C), RS1000221690 (11:130267265 A>G,T), RS1000265004 (11:130307138 C>T), RS1000321559 (11:130312989 G>T), RS1000330440 (11:130276944 G>A), RS1000433028 (11:130313521 T>C), RS1000475430 (11:130238498 C>T), RS1000504613 (11:130306207 A>G)

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

6 associations (top):

Study	Trait	p-value
GCST007094_139	Diastolic blood pressure	1.000000e-12
GCST007096_197	Pulse pressure	8.000000e-69
GCST007097_21	Pulse pressure	3.000000e-21
GCST007097_22	Pulse pressure	3.000000e-17
GCST007097_23	Pulse pressure	2.000000e-06
GCST007099_69	Systolic blood pressure	6.000000e-15

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5069367 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	6
sodium arsenite	affects methylation, affects cotreatment, decreases expression, increases abundance, increases expression	3
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance, increases expression	3
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
TAK-243	increases sumoylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
butyraldehyde	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
benzo(e)pyrene	decreases methylation	1
pinosylvin	decreases expression	1
avobenzone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
jinfukang	decreases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Caffeine	increases phosphorylation	1
Demecolcine	decreases expression	1
Drugs, Chinese Herbal	increases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5059500	Binding	Proteomics fold change data (SUDHL4 cells, 1h)	Data for DCP probe CCT369260

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A8A5	SEES3-1V human ZBTB44, clone1	Embryonic stem cell	Male
CVCL_A8A6	SEES3-1V human ZBTB44, clone2	Embryonic stem cell	Male
CVCL_A8A7	SEES3-1V human ZBTB44, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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