ZBTB37

gene
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Also known as MGC2629ZNF908

Summary

ZBTB37 (zinc finger and BTB domain containing 37, HGNC:28365) is a protein-coding gene on chromosome 1q25.1, encoding Zinc finger and BTB domain-containing protein 37 (Q5TC79). 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. Predicted to be located in chromatin. Predicted to be active in nucleoplasm.

Source: NCBI Gene 84614 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 50 total
  • Phenotypes (HPO): 1
  • MANE Select transcript: NM_001122770

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:28365
Approved symbolZBTB37
Namezinc finger and BTB domain containing 37
Location1q25.1
Locus typegene with protein product
StatusApproved
AliasesMGC2629, ZNF908
Ensembl geneENSG00000185278
Ensembl biotypeprotein_coding
Entrez84614

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

ENST00000367701, ENST00000367702, ENST00000367704, ENST00000695459, ENST00000888347, ENST00000888348, ENST00000888349, ENST00000888350

RefSeq mRNA: 7 — MANE Select: NM_001122770 NM_001122770, NM_001346115, NM_001369846, NM_001395199, NM_001395201, NM_001395202, NM_032522

CCDS: CCDS1312, CCDS44278, CCDS86033

Canonical transcript exons

ENST00000367701 — 5 exons

ExonStartEnd
ENSE00001292509173870200173871148
ENSE00001445419173873467173873566
ENSE00001445423173868925173869120
ENSE00001844940173885636173903547
ENSE00003963877173868380173868405

Expression profiles

Bgee: expression breadth ubiquitous, 234 present calls, max score 87.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9177 / max 57.4145, expressed in 1439 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
67493.56051382
67500.2855140
67480.071822

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
spermCL:000001987.95gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047382.17gold quality
adrenal tissueUBERON:001830381.49gold quality
corpus callosumUBERON:000233681.04gold quality
sural nerveUBERON:001548880.74gold quality
secondary oocyteCL:000065579.36gold quality
calcaneal tendonUBERON:000370179.10gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099178.34gold quality
thymusUBERON:000237077.91gold quality
tendonUBERON:000004377.07gold quality
bloodUBERON:000017875.85gold quality
bone marrow cellCL:000209275.52gold quality
tendon of biceps brachiiUBERON:000818874.63gold quality
colonic epitheliumUBERON:000039774.32gold quality
cortical plateUBERON:000534374.15gold quality
monocyteCL:000057674.08gold quality
leukocyteCL:000073873.94gold quality
superficial temporal arteryUBERON:000161473.54gold quality
testisUBERON:000047373.40gold quality
skin of hipUBERON:000155473.23gold quality
ganglionic eminenceUBERON:000402373.13gold quality
tibialis anteriorUBERON:000138573.10gold quality
subcutaneous adipose tissueUBERON:000219072.76gold quality
ileal mucosaUBERON:000033172.66gold quality
left testisUBERON:000453372.65gold quality
adipose tissueUBERON:000101372.64gold quality
right testisUBERON:000453472.45gold quality
right lobe of liverUBERON:000111472.35gold quality
ventricular zoneUBERON:000305372.22gold quality
tibial nerveUBERON:000132372.16gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes6.30
E-MTAB-7303no50.00

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriozbtb37ENSDARG00000042689
mus_musculusZbtb37ENSMUSG00000043467
rattus_norvegicusZbtb37ENSRNOG00000026907

Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF526 (ENSG00000167625), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)

Protein

Protein identifiers

Zinc finger and BTB domain-containing protein 37Q5TC79 (reviewed: Q5TC79)

All UniProt accessions (1): Q5TC79

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

Isoforms (3)

UniProt IDNamesCanonical?
Q5TC79-11yes
Q5TC79-22
Q5TC79-33

RefSeq proteins (7): NP_001116242, NP_001333044, NP_001356775, NP_001382128, NP_001382130, NP_001382131, NP_115911 (=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, PF12874

UniProt features (16 total): compositionally biased region 4, splice variant 3, zinc finger region 3, region of interest 3, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5TC79-F156.200.07

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 156 (showing top): HNF3ALPHA_Q6, AREB6_01, GGGTGGRR_PAX4_03, FOXD3_01, GOBP_CYTOKINE_PRODUCTION, IRF1_Q6, HFH8_01, TCF11_01, FOXJ2_01, HFH4_01, HFH3_01, HIF1_Q3, HFH1_01, AACTTT_UNKNOWN, FREAC4_01

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 (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), 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 (3): chromatin (GO:0000785), 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 binding3
regulation of transcription by RNA polymerase II2
cellular anatomical structure2
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
chromatin1
DNA-binding transcription factor activity1
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
chromosome1
nuclear lumen1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

554 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZBTB37TEX50A0A1B0GTY4643
ZBTB37M0R1W7M0R1W7592
ZBTB37DARS2Q6PI48543
ZBTB37CENPLQ8N0S6539
ZBTB37ANKRD45Q5TZF3512
ZBTB37KIAA0040Q15053491
ZBTB37THUMPD2Q9BTF0449
ZBTB37ZNF428Q96B54448
ZBTB37CFAP68Q9H5F2447
ZBTB37MPHOSPH6Q99547438
ZBTB37SLC9C2Q5TAH2431
ZBTB37RC3H1Q5TC82413
ZBTB37SMG7Q92540398
ZBTB37CHPF2Q9P2E5393
ZBTB37PIGCQ92535388

IntAct

5 interactions, top by confidence:

ABTypeScore
FOXP3FOXP2psi-mi:“MI:0914”(association)0.530
ZBTB37HSPB1psi-mi:“MI:0915”(physical association)0.370
ZBTB34CHEK1psi-mi:“MI:0914”(association)0.350
ZBTB37SH3BP4psi-mi:“MI:0915”(physical association)0.000

BioGRID (7): ZBTB37 (Two-hybrid), ZBTB37 (Affinity Capture-MS), ZBTB37 (Affinity Capture-RNA), ZBTB37 (Affinity Capture-MS), ZBTB37 (Affinity Capture-RNA), ZBTB37 (Proximity Label-MS), ZBTB37 (Two-hybrid)

ESM2 similar proteins: A0JN76, A1L2U9, B1WAZ8, B1WBU4, O15060, O35260, O43298, O93567, P14404, P41182, P41183, Q05516, Q0IH98, Q0IJ29, Q0P4X6, Q0V8G8, Q0VCJ6, Q15916, Q1L8W0, Q3B725, Q3SWU4, Q5TC79, Q5ZM39, Q6NRM8, Q6P882, Q6YND2, Q7TQG0, Q7TSZ8, Q7ZWZ4, Q801P1, Q80X44, Q86UZ6, Q8BID6, Q8CII0, Q8K088, Q8K0L9, Q8N680, Q8NAP8, Q8NCN2, Q8NCP5

Diamond homologs: A0A1B8YAB1, A1YPR0, B0WWP2, B1H285, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, C9JR72, D3Z8N4, E0CZ16, G3X9X1, O15062, O88939, O93567, O95365, P28575, P41182, P41183, Q08CL3, Q08DK3, Q13105, Q16RL8, Q2M0J9, Q3UQV5, Q52KB5, Q5EXX3, Q5R7B8, Q5RDY3, Q5TC79, Q5ZI33, Q5ZKD9, Q5ZM39, Q60821

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance46
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

798 predictions. Top by Δscore:

VariantEffectΔscore
1:173870195:AGCAG:Aacceptor_gain1.0000
1:173870196:GCA:Gacceptor_gain1.0000
1:173870196:GCAGG:Gacceptor_gain1.0000
1:173885611:T:Aacceptor_gain1.0000
1:173885616:A:AGacceptor_gain1.0000
1:173885617:T:Gacceptor_gain1.0000
1:173885625:A:AGacceptor_gain1.0000
1:173885625:ACCT:Aacceptor_gain1.0000
1:173885625:ACCTG:Aacceptor_gain1.0000
1:173885626:C:Gacceptor_gain1.0000
1:173885628:T:TAacceptor_gain1.0000
1:173885629:G:Aacceptor_gain1.0000
1:173885631:TACA:Tacceptor_loss1.0000
1:173885634:A:AGacceptor_gain1.0000
1:173885634:AG:Aacceptor_gain1.0000
1:173885635:G:GTacceptor_gain1.0000
1:173885635:GG:Gacceptor_gain1.0000
1:173885635:GGT:Gacceptor_gain1.0000
1:173885635:GGTA:Gacceptor_gain1.0000
1:173870191:TTTCA:Tacceptor_loss0.9900
1:173870192:TTCAG:Tacceptor_loss0.9900
1:173870193:TCAGC:Tacceptor_loss0.9900
1:173870195:A:AGacceptor_gain0.9900
1:173870195:AG:Aacceptor_loss0.9900
1:173870196:G:GAacceptor_gain0.9900
1:173870196:GC:Gacceptor_gain0.9900
1:173870323:A:AGdonor_gain0.9900
1:173870369:G:GAdonor_gain0.9900
1:173870421:A:Gdonor_gain0.9900
1:173871033:G:GTdonor_gain0.9900

AlphaMissense

3315 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:173885735:T:CC375R1.000
1:173885737:C:GC375W1.000
1:173885746:C:GC378W1.000
1:173885756:T:CF382L1.000
1:173885758:C:AF382L1.000
1:173885758:C:GF382L1.000
1:173885781:G:CR390P1.000
1:173885813:T:CF401L1.000
1:173885815:C:AF401L1.000
1:173885815:C:GF401L1.000
1:173885819:T:CC403R1.000
1:173885821:C:GC403W1.000
1:173885840:T:GY410D1.000
1:173885847:G:CR412P1.000
1:173885859:T:CL416P1.000
1:173885868:A:CH419P1.000
1:173885869:T:AH419Q1.000
1:173885869:T:GH419Q1.000
1:173885903:T:CC431R1.000
1:173885905:T:GC431W1.000
1:173885912:T:CC434R1.000
1:173885924:T:CF438L1.000
1:173885925:T:CF438S1.000
1:173885926:C:AF438L1.000
1:173885926:C:GF438L1.000
1:173885930:T:CF440L1.000
1:173885932:C:AF440L1.000
1:173885932:C:GF440L1.000
1:173885953:C:AH447Q1.000
1:173885953:C:GH447Q1.000

dbSNP variants (sampled 300 via entrez): RS1000052577 (1:173872226 G>C), RS1000056001 (1:173867389 G>A), RS1000069678 (1:173890212 T>A), RS1000127752 (1:173867669 A>G), RS1000247329 (1:173868599 C>G,T), RS1000405263 (1:173872428 A>G,T), RS1000450082 (1:173868415 G>A), RS1000471968 (1:173897024 T>A), RS1000500475 (1:173868214 T>G), RS1000607514 (1:173867847 G>A,C), RS1000640330 (1:173867622 A>C,G), RS1000763215 (1:173901485 C>G), RS1000770326 (1:173898696 A>G), RS1000836334 (1:173897353 T>C), RS1000907127 (1:173878038 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): cholesteatoma (MONDO:0006530)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPOTerm
HP:0009797Cholesteatoma

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

DescriptorNameTree numbers
D002781CholesteatomaC17.800.428.260

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.

ChemicalActions (top 5)PubMed papers
aristolochic acid Idecreases expression1
FR900359affects phosphorylation1
TAK-243increases sumoylation1
triphenyl phosphateaffects expression1
perfluorooctanoic acidincreases expression1
resorcinoldecreases expression1
di-n-butylphosphoric acidaffects expression1
Resveratrolaffects cotreatment, increases expression1
Leflunomideincreases expression1
Cadmiumincreases expression, increases abundance1
Dimethyl Sulfoxideincreases expression1
Plant Extractsaffects cotreatment, increases expression1
Silicon Dioxideincreases expression1
Urethaneincreases expression1
Valproic Aciddecreases methylation1
Cadmium Chlorideincreases abundance, increases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT01638052PHASE2COMPLETEDGreat Auricular Nerve Block for Children Undergoing Tympanomastoid Surgery
NCT00270660Not specifiedUNKNOWNA Study of the Clinicopathologic Behaviour of the Different Types of Unsafe Chronic Otitis Media
NCT00682409Not specifiedCOMPLETEDMagnetic Resonance (MR) Imaging in the Post Operative Follow-up of Cholesteatoma in Children
NCT01855425Not specifiedCOMPLETEDCone Beam CT for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose
NCT02019888Not specifiedCOMPLETEDWide Frequency Band Test of Hearing in Veterans
NCT02903550Not specifiedUNKNOWNUsefulness of Non EPI-DWI-MRI / CT 3D Static Co-registration Prior to Surgery of Cholesteatomas
NCT03294421Not specifiedUNKNOWNCombined Access Closed Tympanomastoidectomy: Microsurgery Allied to Endoscopy
NCT03305796Not specifiedUNKNOWNDetection of Cholesteatoma Using Diffusion Magnetic Resonance Imaging
NCT03915392Not specifiedUNKNOWNDiffusion Weighted MRI Accuracy in Cholesteatoma Localization
NCT03954288Not specifiedUNKNOWNThe Serum Sclerostin Levels in Cholesteatoma Patients
NCT04959539Not specifiedCOMPLETEDEndoscopic Transcanal Tympanoplasty With Attico-antrostomy Versus Endoscopic-assisted Canal Wall up Mastoidectomy in Management of Localized Cholesteatoma: A Randomized Clinical Trial
NCT05921643Not specifiedRECRUITINGShort- and Medium-term Evaluation of Mastoid Filling Using Bioactive Glass
NCT06016335Not specifiedCOMPLETEDMRI-based Synthetic CT Images of the Head and Neck
NCT06268938Not specifiedACTIVE_NOT_RECRUITINGOutcomes of Mastoid Obliteration Canal Wall Down Tympanomastoidectomy in Cholesteatoma Surgery
NCT06424704Not specifiedNOT_YET_RECRUITINGChronic Suppurative Otitis Media Microbiology
NCT06738927Not specifiedNOT_YET_RECRUITINGOtological Study of Facial Cleft Patients Over 10 Years of Age (Excluding Isolated Cleft Lip) (EFEOF)
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cholesteatoma