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ZBTB12

gene
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Also known as G10NG35D6S59E

Summary

ZBTB12 (zinc finger and BTB domain containing 12, HGNC:19066) is a protein-coding gene on chromosome 6p21.33, encoding Zinc finger and BTB domain-containing protein 12 (Q9Y330). May be involved in transcriptional regulation.

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in nucleoplasm.

Source: NCBI Gene 221527 — RefSeq curated summary.

At a glance

  • GWAS associations: 27
  • Clinical variants (ClinVar): 1 total
  • MANE Select transcript: NM_181842

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:19066
Approved symbolZBTB12
Namezinc finger and BTB domain containing 12
Location6p21.33
Locus typegene with protein product
StatusApproved
AliasesG10, NG35, D6S59E
Ensembl geneENSG00000204366
Ensembl biotypeprotein_coding
Entrez221527

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000375527

RefSeq mRNA: 1 — MANE Select: NM_181842 NM_181842

CCDS: CCDS4727

Canonical transcript exons

ENST00000375525 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 129 present calls, max score 91.54.

FANTOM5 (CAGE): breadth broad, TPM avg 1.8137 / max 35.0212, expressed in 775 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
728621.8137775

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
cortical plateUBERON:000534391.54gold quality
ganglionic eminenceUBERON:000402388.35gold quality
ventricular zoneUBERON:000305387.21gold quality
stromal cell of endometriumCL:000225576.95gold quality
right ovaryUBERON:000211874.11gold quality
ovaryUBERON:000099274.09gold quality
body of uterusUBERON:000985373.84gold quality
left ovaryUBERON:000211973.34gold quality
endocervixUBERON:000045873.16gold quality
myometriumUBERON:000129673.09gold quality
ectocervixUBERON:001224972.06gold quality
C1 segment of cervical spinal cordUBERON:000646971.79gold quality
right uterine tubeUBERON:000130271.71gold quality
urinary bladderUBERON:000125571.52gold quality
uterine cervixUBERON:000000271.42gold quality
right adrenal glandUBERON:000123371.39gold quality
temporal lobeUBERON:000187171.36gold quality
fallopian tubeUBERON:000388971.22gold quality
amygdalaUBERON:000187671.16gold quality
endometriumUBERON:000129570.73gold quality
right adrenal gland cortexUBERON:003582770.67gold quality
substantia nigraUBERON:000203870.63gold quality
Ammon’s hornUBERON:000195470.62gold quality
left uterine tubeUBERON:000130370.39gold quality
putamenUBERON:000187469.85gold quality
left adrenal glandUBERON:000123469.70gold quality
anterior cingulate cortexUBERON:000983569.56gold quality
left adrenal gland cortexUBERON:003582569.32gold quality
duodenumUBERON:000211469.24gold quality
hypothalamusUBERON:000189869.11gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.06

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

TargetRegulation
FN1
THEG

JASPAR motifs

MotifNameFamily
MA1649.1ZBTB12More than 3 adjacent zinc fingers
MA1649.2ZBTB12More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:19443739

miRNA regulators (miRDB)

7 targeting ZBTB12, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-6892-3P99.6866.401178
HSA-MIR-6832-3P99.5270.441726
HSA-MIR-642A-5P99.5165.101152
HSA-MIR-432599.4972.201342
HSA-MIR-3664-3P97.8567.621452
HSA-MIR-770397.6467.00965

Literature-anchored findings (GeneRIF, showing 3)

  • Single nucleotide polymorphisms at C6orf48, BAT2 and ZBTB12 are associated with estrogen receptor positive breast cancer in the Chinese Han population. (PMID:23079975)
  • Results find ZBTB12 hypomethylation to be linked to shorter TNF-a stimulated whole blood coagulation time and increased WBC and granulocyte counts, further elucidating the possible link between ZBTB12 methylation and cardiovascular disease risk. (PMID:31077224)
  • ZBTB12 is a molecular barrier to dedifferentiation in human pluripotent stem cells. (PMID:36759523)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriozbtb12.2ENSDARG00000070658
danio_reriozbtb12.1ENSDARG00000103949
mus_musculusZbtb12ENSMUSG00000049823
rattus_norvegicusZbtb12ENSRNOG00000071232

Paralogs (28): ZNF280C (ENSG00000056277), ZBTB25 (ENSG00000089775), PRDM13 (ENSG00000112238), BCL6 (ENSG00000113916), FEZF1 (ENSG00000128610), ZBTB46 (ENSG00000130584), PRDM12 (ENSG00000130711), ZNF280D (ENSG00000137871), NACC2 (ENSG00000148411), FEZF2 (ENSG00000153266), ZBTB7B (ENSG00000160685), NACC1 (ENSG00000160877), BCL6B (ENSG00000161940), GFI1 (ENSG00000162676), GFI1B (ENSG00000165702), ZBTB49 (ENSG00000168826), ZNF280A (ENSG00000169548), ZNF581 (ENSG00000171425), ZNF524 (ENSG00000171443), ZBTB26 (ENSG00000171448), ZBTB21 (ENSG00000173276), ZNF683 (ENSG00000176083), ZBTB33 (ENSG00000177485), ZBTB3 (ENSG00000185670), ZBTB6 (ENSG00000186130), ZBTB14 (ENSG00000198081), ZNF580 (ENSG00000213015), ZNF280B (ENSG00000275004)

Protein

Protein identifiers

Zinc finger and BTB domain-containing protein 12 — Q9Y330 (reviewed: Q9Y330)

Alternative names: Protein G10

All UniProt accessions (1): Q9Y330

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

RefSeq proteins (1): NP_862825* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000210BTB/POZ_domDomain
IPR011333SKP1/BTB/POZ_sfHomologous_superfamily
IPR013087Znf_C2H2_typeDomain
IPR036236Znf_C2H2_sfHomologous_superfamily
IPR050457ZnFinger_BTB_dom_containFamily

Pfam: PF00096, PF00651

UniProt features (9 total): zinc finger region 4, chain 1, domain 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y330-F157.710.01

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 (1): 19

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 75 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_CYTOKINE_PRODUCTION, HNF4_DR1_Q3, PPAR_DR1_Q2, WHN_B, MILI_PSEUDOPODIA_CHEMOTAXIS_UP, MILI_PSEUDOPODIA, E2F1_Q3_01, COUP_DR1_Q6, HNF4ALPHA_Q6, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, BILANGES_SERUM_SENSITIVE_VIA_TSC1

GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of cytokine production (GO:0001817), regulation of immune system process (GO:0002682)

GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), zinc ion binding (GO:0008270), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleoplasm (GO:0005654), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
RNA polymerase II transcription regulatory region sequence-specific DNA binding2
regulation of transcription by RNA polymerase II1
transcription by RNA polymerase II1
negative regulation of DNA-templated transcription1
cytokine production1
regulation of gene expression1
regulation of multicellular organismal process1
immune system process1
regulation of biological process1
cis-regulatory region sequence-specific DNA binding1
negative regulation of transcription by RNA polymerase II1
DNA-binding transcription factor activity, RNA polymerase II-specific1
DNA-binding transcription repressor activity1
transition metal ion binding1
double-stranded DNA binding1
sequence-specific DNA binding1
nucleic acid binding1
binding1
cation binding1
nuclear lumen1
cellular anatomical structure1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

648 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZBTB12ABHD16AO95870829
ZBTB12PPT2Q9UMR5491
ZBTB12LTAP01374459
ZBTB12HLA-BP01889455
ZBTB12PRRC2AP48634448
ZBTB12ST6GAL1P15907436
ZBTB12HLA-CP04222426
ZBTB12SKIC2Q15477414
ZBTB12PRRT1Q99946404
ZBTB12DDAH1O94760398
ZBTB12EBLN2Q6P2I7398
ZBTB12SPDYE3A6NKU9393
ZBTB12HSPA1LP34931388
ZBTB12C6orf47O95873387
ZBTB12RASA1P20936382

IntAct

15 interactions, top by confidence:

ABTypeScore
ZBTB26ZBTB12psi-mi:“MI:0915”(physical association)0.560
GRB2ZBTB12psi-mi:“MI:0915”(physical association)0.560
NCK2ZBTB12psi-mi:“MI:0915”(physical association)0.560
ZBTB12SPTBpsi-mi:“MI:0915”(physical association)0.400
ZMYM2ZBTB5psi-mi:“MI:2364”(proximity)0.270
ZMYM2TRIM24psi-mi:“MI:2364”(proximity)0.270
ZBTB12ZBTB26psi-mi:“MI:0915”(physical association)0.000
GRB2ZBTB12psi-mi:“MI:0915”(physical association)0.000
NCK2ZBTB12psi-mi:“MI:0915”(physical association)0.000

BioGRID (11): SPTB (Affinity Capture-MS), ZBTB12 (Synthetic Lethality), ZBTB12 (Two-hybrid), ZBTB12 (Two-hybrid), ZBTB12 (Two-hybrid), ZBTB12 (Proximity Label-MS), SPTB (Affinity Capture-MS), ZBTB12 (Proximity Label-MS), ZBTB12 (Proximity Label-MS), ZBTB12 (Proximity Label-MS), ZBTB12 (Proximity Label-MS)

ESM2 similar proteins: A0PJY2, A1YPR0, A2A935, B0K011, B0X9H6, B7ZRU9, O13089, O15090, O15156, O75626, O88939, O93567, O95365, P14404, P25932, P41183, P56260, Q03112, Q08DS3, Q0IHB8, Q1L8W0, Q2VWH6, Q32NK7, Q3T135, Q5XJQ7, Q60636, Q64321, Q6AY34, Q6DBW0, Q6F2E4, Q802Y8, Q8I7Z8, Q8K083, Q8N9L1, Q8NAP8, Q8TBJ5, Q8VCZ7, Q8VDL9, Q98T94, Q99PV8

Diamond homologs: A0JN76, A1YPR0, A6QQY2, B1WBS3, B2RXF5, D4A2K4, D4A8X0, F1LZF0, O14867, O15062, O15209, O35260, O43298, O43829, O88282, O88939, O93567, O95198, O95365, O95625, P97303, Q08376, Q08DS0, Q0D2A9, Q0IJ29, Q13105, Q14526, Q1L8W0, Q3B725, Q3B7M1, Q3U410, Q4KLM4, Q503R4, Q52KG4, Q562B4, Q5EXX3, Q5F293, Q5NBY9, Q5TJE2, Q5U374

SIGNOR signaling

1 interactions.

AEffectBMechanism
Ub:E2“up-regulates activity”ZBTB12ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance1
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

180 predictions. Top by Δscore:

VariantEffectΔscore
6:31901321:CAACC:Cacceptor_gain0.9900
6:31901322:AACC:Aacceptor_gain0.9900
6:31901323:ACC:Aacceptor_gain0.9900
6:31901324:CC:Cacceptor_gain0.9900
6:31901324:CCC:Cacceptor_gain0.9900
6:31901325:CC:Cacceptor_gain0.9900
6:31901326:C:CCacceptor_gain0.9900
6:31901327:T:Cacceptor_loss0.9900
6:31901330:T:Cacceptor_gain0.9900
6:31901326:C:Tacceptor_gain0.9800
6:31901329:G:GCacceptor_gain0.9700
6:31901330:T:TCacceptor_gain0.9700
6:31901828:T:Adonor_gain0.9600
6:31901329:G:Cacceptor_gain0.9400
6:31901831:TCTCA:Tdonor_loss0.9300
6:31901832:CTCA:Cdonor_loss0.9300
6:31901833:TCA:Tdonor_loss0.9300
6:31901834:CA:Cdonor_loss0.9300
6:31901835:ACCT:Adonor_loss0.9300
6:31901836:CC:Cdonor_loss0.9300
6:31900665:TC:Tdonor_gain0.8900
6:31900666:CC:Cdonor_gain0.8900
6:31901423:T:TAdonor_gain0.8500
6:31901904:G:GTdonor_gain0.8500
6:31901449:T:TAdonor_gain0.8400
6:31901431:C:CAdonor_gain0.8300
6:31901913:A:Tdonor_gain0.8200
6:31901407:G:Adonor_gain0.7900
6:31901482:C:Adonor_gain0.7600
6:31901837:C:Gdonor_loss0.7600

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000900895 (6:31899814 C>A), RS1002382850 (6:31899623 T>C,G), RS1002455041 (6:31899328 C>G), RS1003195376 (6:31902427 G>A,C), RS1003228425 (6:31902647 C>A), RS1004753498 (6:31902392 G>A,T), RS1005737557 (6:31899303 C>G), RS1006013712 (6:31903801 G>A), RS1006068207 (6:31903463 C>A), RS1007823757 (6:31904034 AAAAAT>A), RS1009078928 (6:31902298 A>C,G), RS1010489547 (6:31902687 C>T), RS1010791996 (6:31902480 G>T), RS1011614657 (6:31903949 A>G), RS1011647336 (6:31903356 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

27 associations (top):

StudyTraitp-value
GCST001779_12Hematology traits2.000000e-08
GCST004131_25Inflammatory bowel disease2.000000e-31
GCST004133_79Ulcerative colitis5.000000e-65
GCST004521_114Autism spectrum disorder or schizophrenia3.000000e-17
GCST004521_117Autism spectrum disorder or schizophrenia3.000000e-15
GCST004521_118Autism spectrum disorder or schizophrenia3.000000e-15
GCST004521_126Autism spectrum disorder or schizophrenia2.000000e-10
GCST004521_154Autism spectrum disorder or schizophrenia3.000000e-08
GCST004521_162Autism spectrum disorder or schizophrenia3.000000e-08
GCST004521_17Autism spectrum disorder or schizophrenia2.000000e-12
GCST004521_173Autism spectrum disorder or schizophrenia4.000000e-14
GCST004521_209Autism spectrum disorder or schizophrenia5.000000e-16
GCST004521_211Autism spectrum disorder or schizophrenia5.000000e-15
GCST004521_213Autism spectrum disorder or schizophrenia5.000000e-13
GCST004521_224Autism spectrum disorder or schizophrenia5.000000e-10
GCST004521_227Autism spectrum disorder or schizophrenia4.000000e-12
GCST004521_296Autism spectrum disorder or schizophrenia6.000000e-18
GCST004521_45Autism spectrum disorder or schizophrenia2.000000e-16
GCST004521_70Autism spectrum disorder or schizophrenia8.000000e-20
GCST004521_81Autism spectrum disorder or schizophrenia1.000000e-14
GCST005790_63Rosacea symptom severity7.000000e-11
GCST008916_30Asthma1.000000e-09
GCST012276_6Clostridioides difficle infection in antibiotics-users1.000000e-06
GCST012277_23Clostridioides difficle infection4.000000e-06
GCST90020024_1060A body shape index2.000000e-11
GCST90020025_515Waist-to-hip ratio adjusted for BMI2.000000e-11
GCST90020027_762Waist-hip index5.000000e-11

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0009180rosacea severity measurement
EFO:0009130clostridium difficile infection
EFO:0007789BMI-adjusted waist circumference
EFO:0007788BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

ChemicalActions (top 5)PubMed papers
aristolochic acid Idecreases expression1
GSK-J4decreases expression1
TAK-243increases sumoylation1
bisphenol Aincreases expression1
beta-lapachonedecreases expression1
sodium arsenitedecreases expression, increases abundance1
jinfukangincreases expression1
(+)-JQ1 compounddecreases expression1
Resveratrolaffects cotreatment, decreases expression1
Arsenicdecreases expression, increases abundance1
Benzo(a)pyreneaffects methylation, decreases methylation1
Plant Extractsaffects cotreatment, decreases expression1
Tobacco Smoke Pollutiondecreases expression1
Tretinoindecreases expression1
Urethanedecreases expression1
Valproic Acidincreases methylation1
8-Bromo Cyclic Adenosine Monophosphateincreases expression1
Aflatoxin B1decreases methylation1
Acrylamidedecreases expression1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

CellosaurusNameCategorySex
CVCL_XV86HEK293 eGFP-ZBTB12Transformed cell lineFemale

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot