ZBBX

Summary

ZBBX (zinc finger B-box domain containing, HGNC:26245) is a protein-coding gene on chromosome 3q26.1, encoding Zinc finger B-box domain-containing protein 1 (A8MT70).

Predicted to enable zinc ion binding activity.

Source: NCBI Gene 79740 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 142 total
• MANE Select transcript: NM_001199201

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26245
Approved symbol	ZBBX
Name	zinc finger B-box domain containing
Location	3q26.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23049
Ensembl gene	ENSG00000169064
Ensembl biotype	protein_coding
Entrez	79740

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 10 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000307529, ENST00000392764, ENST00000392766, ENST00000392767, ENST00000455345, ENST00000464922, ENST00000465071, ENST00000469220, ENST00000473888, ENST00000474464, ENST00000485651, ENST00000492642, ENST00000494898, ENST00000674903, ENST00000675490, ENST00000896195, ENST00000968071

RefSeq mRNA: 4 — MANE Select: NM_001199201 NM_001199201, NM_001199202, NM_001377489, NM_024687

CCDS: CCDS3199, CCDS56295, CCDS56296

Canonical transcript exons

ENST00000675490 — 22 exons

Exon	Start	End
ENSE00001137924	167298305	167298458
ENSE00001137933	167305643	167305950
ENSE00001137940	167313974	167314116
ENSE00001137947	167315750	167315829
ENSE00001204246	167288867	167288983
ENSE00001266428	167282238	167282495
ENSE00001266477	167317488	167317597
ENSE00001513024	167373706	167373787
ENSE00001513025	167379638	167379792
ENSE00001594987	167360675	167360723
ENSE00001646009	167359870	167359979
ENSE00001683259	167327942	167328116
ENSE00001684114	167365886	167365976
ENSE00001695085	167350420	167350515
ENSE00001739047	167322117	167322237
ENSE00001780229	167333827	167333985
ENSE00001871716	167380247	167380297
ENSE00003489198	167372834	167372950
ENSE00003542055	167368461	167368574
ENSE00003598114	167242505	167242643
ENSE00003671418	167317005	167317105
ENSE00003900298	167239843	167240919

Expression profiles

Bgee: expression breadth ubiquitous, 146 present calls, max score 99.16.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0810 / max 129.1825, expressed in 245 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
45445	0.9383	239
45447	0.1102	29
45446	0.0325	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.16	gold quality
bronchial epithelial cell	CL:0002328	99.08	gold quality
epithelium of bronchus	UBERON:0002031	98.40	gold quality
bronchus	UBERON:0002185	97.41	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.42	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.79	gold quality
right testis	UBERON:0004534	92.40	gold quality
left testis	UBERON:0004533	92.34	gold quality
testis	UBERON:0000473	89.43	gold quality
sperm	CL:0000019	89.32	gold quality
male germ cell	CL:0000015	87.27	gold quality
caput epididymis	UBERON:0004358	83.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.62	gold quality
right frontal lobe	UBERON:0002810	82.35	gold quality
nasal cavity epithelium	UBERON:0005384	81.31	gold quality
choroid plexus epithelium	UBERON:0003911	81.05	gold quality
Brodmann (1909) area 9	UBERON:0013540	80.51	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.25	gold quality
right lung	UBERON:0002167	78.95	gold quality
adenohypophysis	UBERON:0002196	78.14	gold quality
caudate nucleus	UBERON:0001873	77.64	gold quality
anterior cingulate cortex	UBERON:0009835	77.46	gold quality
cingulate cortex	UBERON:0003027	77.36	gold quality
fallopian tube	UBERON:0003889	77.01	gold quality
adult organism	UBERON:0007023	76.89	gold quality
nucleus accumbens	UBERON:0001882	76.61	gold quality
epithelium of nasopharynx	UBERON:0001951	76.51	gold quality
nasal cavity mucosa	UBERON:0001826	75.77	gold quality
pituitary gland	UBERON:0000007	75.65	gold quality
Brodmann (1909) area 23	UBERON:0013554	75.29	silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	60.73
E-ANND-3	yes	10.70
E-MTAB-9388	yes	6.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

43 targeting ZBBX, 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-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-3682-3P	99.58	67.63	865
HSA-MIR-18A-3P	99.56	65.68	1092
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-140-5P	99.44	67.20	792
HSA-MIR-4460	99.37	68.52	615
HSA-MIR-3614-5P	99.30	65.25	837
HSA-MIR-329-5P	99.27	68.11	1597

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Zbbx	ENSMUSG00000034151
rattus_norvegicus	Zbbx	ENSRNOG00000009792

Protein

Protein identifiers

Zinc finger B-box domain-containing protein 1 — A8MT70 (reviewed: A8MT70)

All UniProt accessions (7): A8MT70, A0A6Q8PGH4, C9J608, C9JVV2, H7C4M7, H7C534, H7C590

Isoforms (3)

UniProt ID	Names	Canonical?
A8MT70-1	1	yes
A8MT70-3	3
A8MT70-2	2

RefSeq proteins (4): NP_001186130, NP_001186131, NP_001364418, NP_078963 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037688	ZBBX	Family

Pfam: PF22586

UniProt features (23 total): sequence variant 8, region of interest 3, sequence conflict 3, compositionally biased region 3, splice variant 2, coiled-coil region 2, chain 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MT70-F1	50.41	0.06

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 67 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, LEE_NEURAL_CREST_STEM_CELL_DN, IVANOVA_HEMATOPOIESIS_MATURE_CELL, chr3q26, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, DODD_NASOPHARYNGEAL_CARCINOMA_DN, NOTCH_DN.V1_UP, IL15_UP.V1_UP, FOXJ2_TARGET_GENES, FOXN3_TARGET_GENES, GLI1_TARGET_GENES, UBN1_TARGET_GENES, ZNF146_TARGET_GENES, ZNF257_TARGET_GENES, MIR548D_3P

GO Biological Process (0):

GO Molecular Function (2): zinc ion binding (GO:0008270), metal ion binding (GO:0046872)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transition metal ion binding	1
cation binding	1

Protein interactions and networks

STRING

472 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZBBX	WDR49	Q8IV35	718
ZBBX	GJD4	Q96KN9	524
ZBBX	NRSN2	Q9GZP1	519
ZBBX	FSTL5	Q8N475	472
ZBBX	RGS9BP	Q6ZS82	465
ZBBX	SERPINI2	O75830	450
ZBBX	CARMIL3	Q8ND23	447
ZBBX	ASXL3	Q9C0F0	437
ZBBX	VWA3A	A6NCI4	435
ZBBX	LRRC46	Q96FV0	418
ZBBX	CFAP52	Q8N1V2	392
ZBBX	CIMIP1	Q9H1P6	391
ZBBX	CNBD1	Q8NA66	391
ZBBX	SORCS3	Q9UPU3	375
ZBBX	ARMCX2	Q7L311	370

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ZBBX	ZZEF1	psi-mi:“MI:0914”(association)	0.350

BioGRID (50): FAT3 (Affinity Capture-MS), AMY1C (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), FAT4 (Affinity Capture-MS), SORL1 (Affinity Capture-MS), TBC1D17 (Affinity Capture-MS), HERC1 (Affinity Capture-MS), DNM3 (Affinity Capture-MS), CELSR2 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), FREM2 (Affinity Capture-MS), POLA2 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZG16B (Affinity Capture-MS), URI1 (Affinity Capture-MS)

ESM2 similar proteins: A0AUZ9, A0JMF7, A1L2Y1, A3KMW7, A8MT70, A8MW92, A9JRX0, B0CM36, B0S6S9, B7ZS37, D3Z987, F1QB81, O95447, P40649, Q0IHW6, Q0P5X5, Q14B48, Q15468, Q3U285, Q3V089, Q49A88, Q4R815, Q4V9H5, Q5CZC0, Q5DTI6, Q5REF4, Q5T1N1, Q5ZJK5, Q66H35, Q6NRH7, Q6NRK3, Q6ZRS4, Q6ZU52, Q80VP2, Q80WQ8, Q8BLG0, Q8CB14, Q8CCJ9, Q8IUR6, Q8IX21

Diamond homologs: A8MT70, Q0P5X5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	106
Likely benign	16
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

3788 predictions. Top by Δscore:

Variant	Effect	Δscore
3:167282232:GATTA:G	donor_loss	1.0000
3:167282233:ATTAC:A	donor_loss	1.0000
3:167282234:TTACC:T	donor_loss	1.0000
3:167282235:TAC:T	donor_loss	1.0000
3:167282236:AC:A	donor_loss	1.0000
3:167282237:C:CA	donor_loss	1.0000
3:167282491:CTGAC:C	acceptor_gain	1.0000
3:167282492:TGAC:T	acceptor_gain	1.0000
3:167282495:CCTAA:C	acceptor_loss	1.0000
3:167282496:C:CC	acceptor_gain	1.0000
3:167298456:CAA:C	acceptor_gain	1.0000
3:167298459:C:CC	acceptor_gain	1.0000
3:167305875:T:A	donor_gain	1.0000
3:167314121:CACA:C	acceptor_gain	1.0000
3:167314123:CA:C	acceptor_gain	1.0000
3:167314124:A:AC	acceptor_gain	1.0000
3:167314124:A:C	acceptor_gain	1.0000
3:167314126:G:GC	acceptor_gain	1.0000
3:167315831:T:C	acceptor_gain	1.0000
3:167315834:T:TC	acceptor_gain	1.0000
3:167316998:CACT:C	donor_loss	1.0000
3:167316999:ACTT:A	donor_loss	1.0000
3:167317000:CTTA:C	donor_loss	1.0000
3:167317001:TTACA:T	donor_loss	1.0000
3:167317002:T:TG	donor_loss	1.0000
3:167317003:A:AC	donor_gain	1.0000
3:167317003:ACA:A	donor_loss	1.0000
3:167317004:C:CC	donor_gain	1.0000
3:167317004:CAT:C	donor_gain	1.0000
3:167317103:CAC:C	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000024565 (3:167212354 C>A,T), RS1000025655 (3:167302798 C>T), RS1000032327 (3:167189718 T>A), RS1000041397 (3:167195673 A>G), RS1000050432 (3:167387003 T>C), RS1000103264 (3:167254709 C>A,T), RS1000117728 (3:167221251 C>T), RS1000128170 (3:167352408 G>A), RS1000136279 (3:167340882 G>A,T), RS1000138079 (3:167393773 T>C), RS1000146587 (3:167239217 G>T), RS1000156442 (3:167297976 C>T), RS1000167664 (3:167310518 G>T), RS1000169035 (3:167278780 G>A,T), RS1000191028 (3:167226565 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

5 associations (top):

Study	Trait	p-value
GCST004048_1	Fast beta electroencephalogram	5.000000e-09
GCST005352_10	Paclitaxel disposition in epithelial ovarian cancer	6.000000e-07
GCST005352_6	Paclitaxel disposition in epithelial ovarian cancer	5.000000e-07
GCST007743_12	Iris color (L* coordinate)	1.000000e-06
GCST010732_13	Sensory peripheral neuropathy in microtubule targeting agent-treated breast cancer	5.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004357	electroencephalogram measurement
EFO:0009764	eye colour measurement
EFO:0005260	response to antimicrotubule agent

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	3
Benzo(a)pyrene	affects methylation, increases methylation	2
pirinixic acid	affects binding, decreases expression, increases activity	1
sodium arsenite	affects methylation	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Methapyrilene	decreases methylation	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	increases methylation	1
Zinc	increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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