TCF24

gene
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Also known as bHLHa25

Summary

TCF24 (transcription factor 24, HGNC:32275) is a protein-coding gene on chromosome 8q13.1, encoding Transcription factor 24 (Q7RTU0). Putative transcription factor.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in developmental process and regulation of transcription by RNA polymerase II. Predicted to be located in nucleus.

Source: NCBI Gene 100129654 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 33 total
  • MANE Select transcript: NM_001193502

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:32275
Approved symbolTCF24
Nametranscription factor 24
Location8q13.1
Locus typegene with protein product
StatusApproved
AliasesbHLHa25
Ensembl geneENSG00000261787
Ensembl biotypeprotein_coding
Entrez100129654

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000563496, ENST00000566129, ENST00000929798, ENST00000929799, ENST00000961614, ENST00000961615, ENST00000961616

RefSeq mRNA: 1 — MANE Select: NM_001193502 NM_001193502

CCDS: CCDS59103

Canonical transcript exons

ENST00000563496 — 4 exons

ExonStartEnd
ENSE000025766516696137666961788
ENSE000025876286696232966962591
ENSE000026195756694650166948164
ENSE000026290066696187766961987

Expression profiles

Bgee: expression breadth broad, 67 present calls, max score 78.75.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1880 / max 17.9522, expressed in 62 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
934270.188062

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047378.75silver quality
right uterine tubeUBERON:000130263.25gold quality
islet of LangerhansUBERON:000000659.83gold quality
heart left ventricleUBERON:000208458.69gold quality
cardiac ventricleUBERON:000208258.07gold quality
right atrium auricular regionUBERON:000663155.56gold quality
cardiac atriumUBERON:000208155.16gold quality
lower lobe of lungUBERON:000894953.85silver quality
heartUBERON:000094853.15gold quality
hindlimb stylopod muscleUBERON:000425253.09gold quality
right testisUBERON:000453451.72gold quality
mucosa of stomachUBERON:000119951.63gold quality
apex of heartUBERON:000209851.17gold quality
adult mammalian kidneyUBERON:000008250.49gold quality
testisUBERON:000047350.24gold quality
left testisUBERON:000453349.68gold quality
olfactory segment of nasal mucosaUBERON:000538648.21gold quality
skeletal muscle tissueUBERON:000113447.55gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099147.40gold quality
muscle of legUBERON:000138346.47gold quality
gastrocnemiusUBERON:000138846.36gold quality
kidneyUBERON:000211345.95gold quality
fallopian tubeUBERON:000388945.90gold quality
muscle tissueUBERON:000238545.52gold quality
skin of hipUBERON:000155445.34gold quality
body of stomachUBERON:000116145.10gold quality
nasal cavity mucosaUBERON:000182644.29gold quality
stomachUBERON:000094544.00gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451143.37gold quality
secondary oocyteCL:000065542.57gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no2.11

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

84 targeting TCF24, 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-4476100.0068.182030
HSA-MIR-6876-5P100.0067.682126
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-9-5P100.0072.282361
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-656-3P100.0072.152788
HSA-MIR-548AW99.9972.573559
HSA-MIR-318599.9968.121959
HSA-MIR-1213699.9872.815713
HSA-MIR-3692-3P99.9870.272139
HSA-MIR-60799.9773.625593
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-146A-5P99.9668.93988
HSA-MIR-146B-5P99.9669.13977
HSA-MIR-23A-3P99.9574.243163
HSA-MIR-23B-3P99.9574.243163
HSA-MIR-23C99.9573.923192
HSA-MIR-141-3P99.9472.792421
HSA-MIR-200A-3P99.9472.682420
HSA-MIR-7153-5P99.9468.891006
HSA-MIR-6744-5P99.9366.82748
HSA-MIR-374A-5P99.9071.342923
HSA-MIR-374B-5P99.9069.982734
HSA-MIR-627-3P99.9071.423316
HSA-MIR-153-5P99.8973.866317
HSA-MIR-5003-3P99.8569.292517
HSA-MIR-369-3P99.8570.522264
HSA-MIR-548AR-3P99.8571.263889

Cross-species orthologs

8 orthologs

OrganismSymbolGene ID
danio_rerioTCF24ENSDARG00000086944
mus_musculusTcf24ENSMUSG00000099032
rattus_norvegicusTcf24ENSRNOG00000087348
drosophila_melanogastertwiFBGN0003900
drosophila_melanogasterHLH54FFBGN0022740
drosophila_melanogasterHandFBGN0032209
drosophila_melanogasterCG33557FBGN0053557
caenorhabditis_elegansWBGENE00001953

Paralogs (13): HAND1 (ENSG00000113196), TCF21 (ENSG00000118526), TWIST1 (ENSG00000122691), TCF15 (ENSG00000125878), FERD3L (ENSG00000146618), TCF23 (ENSG00000163792), HAND2 (ENSG00000164107), PTF1A (ENSG00000168267), MSC (ENSG00000178860), FIGLA (ENSG00000183733), BHLHA9 (ENSG00000205899), TWIST2 (ENSG00000233608), SCX (ENSG00000260428)

Protein

Protein identifiers

Transcription factor 24Q7RTU0 (reviewed: Q7RTU0)

All UniProt accessions (1): Q7RTU0

UniProt curated annotations — full annotation on UniProt →

Function. Putative transcription factor.

Subunit / interactions. Efficient DNA binding requires dimerization with another bHLH protein.

Subcellular location. Nucleus.

RefSeq proteins (1): NP_001180431* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR011598bHLH_domDomain
IPR036638HLH_DNA-bd_sfHomologous_superfamily
IPR050283E-box_TF_RegulatorsFamily

Pfam: PF00010

UniProt features (6 total): compositionally biased region 3, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q7RTU0-F168.140.30

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 28 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, chr8q13, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, MIR23A_3P_MIR23B_3P, MIR23C, MIR548AW, MIR374A_5P, MIR141_3P, MIR200A_3P, MIR374B_5P, MIR519A_2_5P_MIR520B_5P, MIR4297, GSE10463_CD40L_AND_VA347_VS_CD40L_IN_DC_DN

GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), developmental process (GO:0032502)

GO Molecular Function (5): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), protein dimerization activity (GO:0046983), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
regulation of DNA-templated transcription1
transcription by RNA polymerase II1
biological_process1
transcription cis-regulatory region binding1
chromatin1
RNA polymerase II transcription regulatory region sequence-specific DNA binding1
DNA-binding transcription factor activity1
regulation of transcription by RNA polymerase II1
protein binding1
nucleic acid binding1
binding1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

262 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TCF24OLFML2AQ68BL7506
TCF24ERICH2A1L162472
TCF24ZNF24P17028436
TCF24GRTP1Q5TC63400
TCF24ASCL5Q7RTU5389
TCF24ARHGAP42A6NI28375
TCF24RNF144AP50876373
TCF24MAD2L1BPQ15013373
TCF24MIER2Q8N344363
TCF24PPP1R42Q7Z4L9363
TCF24ARHGAP32A7KAX9356
TCF24MALSU1Q96EH3340
TCF24PRDM9Q9NQV7323
TCF24ANKRD9Q96BM1322
TCF24ASCL4Q6XD76318

IntAct

9 interactions, top by confidence:

ABTypeScore
MAGEC3TCF24psi-mi:“MI:0915”(physical association)0.560
TCF24MAGEC3psi-mi:“MI:0915”(physical association)0.560
TCF4TCF24psi-mi:“MI:0915”(physical association)0.560
TCF4CBFA2T3psi-mi:“MI:0914”(association)0.530
TCF4CBFA2T3psi-mi:“MI:0914”(association)0.350
TCF24TCF4psi-mi:“MI:0915”(physical association)0.000

BioGRID (7): TCF24 (Affinity Capture-MS), TCF24 (Affinity Capture-MS), TCF24 (Protein-RNA), TCF24 (Two-hybrid), TCF24 (Two-hybrid), TCF24 (Affinity Capture-MS), TCF24 (Affinity Capture-MS)

ESM2 similar proteins: A0A286YF58, A0A494C0N9, A0A494C0Y3, A0A7I2V3R4, A2VDX9, A5A769, A5PJP1, A6NIN4, A6NJG2, A6NLJ0, C9JTQ0, O14492, O15370, O35182, O43541, O88940, P0DPE3, P28283, P58267, Q12870, Q14681, Q29RM6, Q2KJ18, Q53LP3, Q60539, Q60756, Q64124, Q6F5E0, Q6QNY0, Q6XD76, Q7RTU0, Q7RTU7, Q80WY3, Q80XF7, Q86Y97, Q8BY98, Q8K025, Q8N912, Q8NCU7, Q8WY41

Diamond homologs: A8E5T6, B6VQA1, O13125, O13126, O16867, O35437, O42202, O42606, O43680, O57598, O60682, O73615, O73823, O88940, O93507, O96004, O96642, P13903, P17542, P22091, P24899, P26687, P46581, P48985, P48987, P57100, P57101, P57102, P59101, P61295, P61296, P70661, P79765, P79782, P97831, P97832, Q02575, Q02576, Q02577, Q0VCE2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance32
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

415 predictions. Top by Δscore:

VariantEffectΔscore
8:66948162:TTT:Tacceptor_gain0.9900
8:66961370:GCTTA:Gdonor_loss0.9900
8:66961371:CTTA:Cdonor_loss0.9900
8:66961372:TTAC:Tdonor_loss0.9900
8:66961373:TAC:Tdonor_loss0.9900
8:66961375:C:CGdonor_loss0.9900
8:66962332:T:Adonor_gain0.9900
8:66948164:TC:Tacceptor_loss0.9800
8:66948165:C:CGacceptor_loss0.9800
8:66948166:T:Gacceptor_loss0.9800
8:66961377:TTG:Tdonor_gain0.9800
8:66948160:CATTT:Cacceptor_gain0.9700
8:66948165:C:CCacceptor_gain0.9700
8:66948167:G:Cacceptor_loss0.9700
8:66961276:C:Tacceptor_gain0.9700
8:66948163:TT:Tacceptor_gain0.9600
8:66957831:C:CTdonor_gain0.9500
8:66957832:T:TTdonor_gain0.9500
8:66961922:G:Adonor_gain0.9400
8:66948168:AAAAA:Aacceptor_loss0.9100
8:66961374:A:ACdonor_gain0.9100
8:66961375:C:CCdonor_gain0.9100
8:66961375:CCT:Cdonor_gain0.9000
8:66948175:T:TCacceptor_gain0.8900
8:66948362:CAG:Cacceptor_gain0.8900
8:66948363:AGA:Aacceptor_gain0.8900
8:66962321:CCCCT:Cdonor_loss0.8900
8:66962322:CCCTC:Cdonor_loss0.8900
8:66962323:CCTCA:Cdonor_loss0.8900
8:66962324:CTCA:Cdonor_loss0.8900

AlphaMissense

1043 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
8:66948159:C:AW132C1.000
8:66948159:C:GW132C1.000
8:66948161:A:GW132R1.000
8:66948161:A:TW132R1.000
8:66961464:A:GL101P1.000
8:66961473:A:TI98N1.000
8:66961505:C:AK87N1.000
8:66961505:C:GK87N1.000
8:66961507:T:CK87E1.000
8:66961551:A:GL72P1.000
8:66961559:G:CF69L1.000
8:66961559:G:TF69L1.000
8:66961561:A:GF69L1.000
8:66961477:A:CY97D0.999
8:66961485:G:TA94D0.999
8:66961486:C:GA94P0.999
8:66961488:A:GL93P0.999
8:66961494:A:GL91P0.999
8:66961494:A:TL91Q0.999
8:66961500:T:AD89V0.999
8:66961503:A:GL88P0.999
8:66961506:T:AK87M0.999
8:66961507:T:GK87Q0.999
8:66961509:G:AS86F0.999
8:66961509:G:TS86Y0.999
8:66961551:A:TL72Q0.999
8:66961560:A:CF69C0.999
8:66961560:A:GF69S0.999
8:66961572:A:GL65P0.999
8:66961592:C:AE58D0.999

dbSNP variants (sampled 300 via entrez): RS1000100945 (8:66954040 A>T), RS1000552692 (8:66953680 C>G), RS1000577152 (8:66948542 T>C), RS1000952695 (8:66958058 A>C), RS1001178986 (8:66954984 C>T), RS1001447262 (8:66959818 C>T), RS1001497666 (8:66946479 G>A), RS1001555807 (8:66953604 G>C), RS1001608181 (8:66953192 G>A,T), RS1001616699 (8:66961276 C>G), RS1001923873 (8:66959370 A>G), RS1001953710 (8:66959821 T>C), RS1002025595 (8:66948939 A>C), RS1002110230 (8:66948258 G>A,T), RS1002174946 (8:66954869 G>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

1 associations (top):

StudyTraitp-value
GCST007354_2Intracranial aneurysm3.000000e-16

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, increases expression3
entinostatincreases expression, affects cotreatment2
triadimefonincreases expression1
S-(1,2-dichlorovinyl)cysteineaffects cotreatment, increases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
abrineincreases expression1
dorsomorphinaffects cotreatment, increases expression1
Arsenic Trioxidedecreases expression1
Cadmiumincreases expression1
Lipopolysaccharidesaffects cotreatment, increases expression1
Tobacco Smoke Pollutionincreases expression1
Antirheumatic Agentsincreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): brain aneurysm