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THAP8

gene
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Also known as FLJ32891

Summary

THAP8 (THAP domain containing 8, HGNC:23191) is a protein-coding gene on chromosome 19q13.12, encoding THAP domain-containing protein 8 (Q8NA92).

Predicted to enable DNA binding activity and zinc ion binding activity. Located in nucleoplasm.

Source: NCBI Gene 199745 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

  • Clinical variants (ClinVar): 8 total
  • GTEx eGene: eQTL in 18 tissues, sQTL in 5 (q < 0.05)
  • Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.61 (unconstrained)
  • MANE Select transcript: NM_152658

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:23191
Approved symbolTHAP8
NameTHAP domain containing 8
Location19q13.12
Locus typegene with protein product
StatusApproved
AliasesFLJ32891
Ensembl geneENSG00000161277
Ensembl biotypeprotein_coding
OMIM612536
Entrez199745

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000292894

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 1, TSL 3: 2

ENST00000292894, ENST00000522483, ENST00000524106, ENST00000607730, ENST00000872539, ENST00000944564, ENST00000944565, ENST00001004943, ENST00001104562, ENST00001116505, ENST00001135736

RefSeq mRNA: 4 — MANE Select: NM_152658 NM_001331102, NM_001331103, NM_001331104, NM_152658

CCDS: CCDS33000

Canonical transcript exons

ENST00000292894 — 4 exons

ExonStartEnd
ENSE000010573573603994436040136
ENSE000011148973603498436035592
ENSE000013876603605413536054285
ENSE000036690003603932336039718

Expression profiles

Bgee: expression breadth ubiquitous, 179 present calls, max score 92.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1942 / max 54.2742, expressed in 1701 samples.

Highest expression (Bgee): pancreatic ductal cell, primordial germ cell in gonad, tibialis anterior, ileal mucosa, muscle layer of sigmoid colon.

Genetic regulation across tissues (GTEx eQTL / sQTL)

THAP8 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 18 tissues and its splicing (sQTL) in 5 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 23 significant tissue × QTL associations:

TissueQTLq-valueSlopeLead variant
Skin Sun Exposed Lower legeqtl5.1e-32+0.2619:36042293:A:C
Skin Not Sun Exposed Suprapubiceqtl8.9e-29+0.2719:36045178:G:C
Nerve Tibialeqtl2.3e-24+0.2419:36056717:A:G
Brain Spinal cord cervical c-1eqtl3.0e-14+0.4919:36045213:G:A
Artery Tibialeqtl6.0e-11+0.1719:36042293:A:C
Esophagus Mucosaeqtl5.3e-08+0.1519:36053863:C:G
Muscle Skeletaleqtl4.9e-06-0.2719:36116392:G:A
Cells Cultured fibroblastseqtl4.5e-05-0.1419:36034328:CTCT:C
Brain Substantia nigraeqtl3.7e-04+0.3019:36075331:G:A
Nerve Tibialsqtl4.1e-04+1.3719:35907691:C:T
Whole Bloodeqtl8.0e-04-0.1119:36101850:G:T
Heart Atrial Appendageeqtl1.5e-03+0.1519:35520093:G:T
Heart Atrial Appendagesqtl1.6e-03+0.8819:35986402:G:A
Brain Caudate basal gangliaeqtl4.3e-03+0.4419:36069797:C:T
Skin Sun Exposed Lower legsqtl5.2e-03-0.2719:36119883:G:A
Brain Cortexeqtl1.4e-02+0.8319:35129238:T:G
Brain Hippocampuseqtl1.8e-02+0.2119:36101850:G:T
Colon Sigmoideqtl2.0e-02+0.1319:36042293:A:C
Adipose Subcutaneouseqtl2.1e-02+0.4519:36203536:C:T
Brain Frontal Cortex BA9eqtl2.6e-02+0.2119:36079243:A:G

FANTOM5 promoters

4 alternative TSS:

Promoter IDTPM avgSamples expressed
1806453.89961494
1806461.78271036
1806470.3744176
1806480.137569

Top tissues by expression

showing 100 of 237 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
pancreatic ductal cellCL:000207992.56silver quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099192.12gold quality
tibialis anteriorUBERON:000138588.08silver quality
ileal mucosaUBERON:000033184.51gold quality
muscle layer of sigmoid colonUBERON:003580583.44gold quality
C1 segment of cervical spinal cordUBERON:000646982.01gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047381.95gold quality
left testisUBERON:000453381.68gold quality
right testisUBERON:000453481.65gold quality
apex of heartUBERON:000209881.23gold quality
hindlimb stylopod muscleUBERON:000425281.20gold quality
lower esophagusUBERON:001347381.10gold quality
lower esophagus muscularis layerUBERON:003583381.06gold quality
esophagogastric junction muscularis propriaUBERON:003584180.36gold quality
testisUBERON:000047379.94gold quality
tibial nerveUBERON:000132379.50gold quality
spinal cordUBERON:000224078.90gold quality
granulocyteCL:000009478.70gold quality
stromal cell of endometriumCL:000225578.63gold quality
anterior cingulate cortexUBERON:000983578.28gold quality
prefrontal cortexUBERON:000045178.19gold quality
ectocervixUBERON:001224977.75gold quality
muscle of legUBERON:000138377.64gold quality
gastrocnemiusUBERON:000138877.64gold quality
right frontal lobeUBERON:000281077.59gold quality
Brodmann (1909) area 9UBERON:001354077.47gold quality
right adrenal gland cortexUBERON:003582777.31gold quality
lower esophagus mucosaUBERON:003583477.17gold quality
right adrenal glandUBERON:000123377.13gold quality
esophagusUBERON:000104376.72gold quality
body of uterusUBERON:000985376.68gold quality
hypothalamusUBERON:000189876.65gold quality
cortical plateUBERON:000534376.64gold quality
ganglionic eminenceUBERON:000402376.55gold quality
endocervixUBERON:000045876.49gold quality
ventricular zoneUBERON:000305376.28gold quality
amygdalaUBERON:000187676.02gold quality
transverse colonUBERON:000115775.85gold quality
mucosa of transverse colonUBERON:000499175.81gold quality
right lobe of liverUBERON:000111475.62gold quality
right coronary arteryUBERON:000162575.60gold quality
popliteal arteryUBERON:000225075.56gold quality
tibial arteryUBERON:000761075.54gold quality
left uterine tubeUBERON:000130375.41gold quality
right hemisphere of cerebellumUBERON:001489075.27gold quality
substantia nigraUBERON:000203875.21gold quality
right ovaryUBERON:000211875.18gold quality
left coronary arteryUBERON:000162675.08gold quality
left adrenal glandUBERON:000123475.07gold quality
skin of abdomenUBERON:000141674.99gold quality
muscle organUBERON:000163074.91gold quality
dorsolateral prefrontal cortexUBERON:000983474.80gold quality
aortaUBERON:000094774.66gold quality
left adrenal gland cortexUBERON:003582574.62gold quality
mucosa of stomachUBERON:000119974.61gold quality
cerebellar hemisphereUBERON:000224574.53gold quality
cerebellar cortexUBERON:000212974.46gold quality
metanephros cortexUBERON:001053374.41gold quality
caudate nucleusUBERON:000187374.39gold quality
heart left ventricleUBERON:000208474.32gold quality
omental fat padUBERON:001041474.32gold quality
peritoneumUBERON:000235874.23gold quality
neocortexUBERON:000195074.09gold quality
skin of legUBERON:000151174.08gold quality
putamenUBERON:000187474.04gold quality
body of stomachUBERON:000116173.97gold quality
smooth muscle tissueUBERON:000113573.94gold quality
thoracic aortaUBERON:000151573.93gold quality
ascending aortaUBERON:000149673.88gold quality
frontal cortexUBERON:000187073.74gold quality
cardiac ventricleUBERON:000208273.60gold quality
right atrium auricular regionUBERON:000663173.55gold quality
esophagus mucosaUBERON:000246973.54gold quality
nucleus accumbensUBERON:000188273.36gold quality
colonUBERON:000115573.34gold quality
descending thoracic aortaUBERON:000234573.31gold quality
coronary arteryUBERON:000162173.24gold quality
small intestine Peyer’s patchUBERON:000345473.19gold quality
adipose tissue of abdominal regionUBERON:000780873.17gold quality
adenohypophysisUBERON:000219673.14gold quality
left ovaryUBERON:000211973.09gold quality
leukocyteCL:000073872.85gold quality
cerebellumUBERON:000203772.83gold quality
adrenal cortexUBERON:000123572.75gold quality
deciduaUBERON:000245072.68gold quality
right uterine tubeUBERON:000130272.66gold quality
deltoidUBERON:000147672.50silver quality
cardiac atriumUBERON:000208172.50gold quality
monocyteCL:000057672.44gold quality
gall bladderUBERON:000211072.36gold quality
large intestineUBERON:000005972.23gold quality
kidney epitheliumUBERON:000481972.07gold quality
heartUBERON:000094871.96gold quality
adrenal glandUBERON:000236971.82gold quality
cerebral cortexUBERON:000095671.75gold quality
spleenUBERON:000210671.72gold quality
intestineUBERON:000016071.70gold quality
small intestineUBERON:000210871.63gold quality
forebrainUBERON:000189071.53gold quality
zone of skinUBERON:000001471.50gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no1.69

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Corpus callosumtissue16.7
Cerebellumtissue12.8low
Amygdalatissue12.7
Spinal cordtissue12.6
Cerebral cortextissue12.1medium
Retrosplenial cortextissue12.1
Insular cortextissue12.1
Ventral pallidumtissue11.6
Locus coeruleustissue11.4
Olfactory bulbtissue11.4
Medulla oblongatatissue11.2
Cingulate cortextissue11.2
Basal gangliatissue11.1medium
Periaqueductal graytissue11.1
Hippocampal formationtissue10.9
Septumtissue10.8
Temporal cortextissue10.8
Midbraintissue10.7
Hypothalamustissue10.3
Substantia nigratissue10.3
Prefrontal cortextissue9.9
Superior colliculitissue9.9
Occipital cortextissue9.9
Motor cortextissue9.7
Skeletal muscletissue9.5low
Entorhinal cortextissue9.5
Somatosensory cortextissue9.4
Putamentissue9.3
Ponstissue8.6
Thalamustissue8.6
Hippocampustissue7.7not detected
Nucleus accumbenstissue6.5
Postcentral gyrustissue6.2
Vaginatissue6.0high
Skin 1tissue5.0medium
Testistissue5.0medium
Pituitary glandtissue4.8
Ovarytissue4.6medium
Retinatissue4.2
Smooth muscletissue4.1not detected
Choroid plexustissue4.1
Seminal vesicletissue4.0not detected
Thymustissue3.8
Fallopian tubetissue3.6medium
Duodenumtissue3.5high
Parathyroid glandtissue3.4not detected
Gallbladdertissue3.3medium
Heart muscletissue3.2not detected
Endometrium 1tissue3.2low
Epididymistissue3.2high
Spleentissue3.2not detected
Small intestinetissue3.1high
Prostatetissue3.1not detected
Cervixtissue3.0high
Adipose tissuetissue3.0not detected
Tonguetissue3.0
Adrenal glandtissue3.0high
Lymph nodetissue2.9medium
Esophagustissue2.9high
Thyroid glandtissue2.9medium

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — White matter (16.7), Parieto-temporal junction (white matter) (13.7), Temporal white matter (12.6), Ventral spinal cord (12.6), Nucleus raphe pallidus (12.5).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting THAP8 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

22 miRNAs:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-150-5P99.9966.691976
HSA-MIR-185-3P99.9567.011743
HSA-MIR-6499-3P99.9066.381212
HSA-MIR-629-3P99.8567.991875
HSA-MIR-3663-3P99.8470.39798
HSA-MIR-4713-5P99.7867.801794
HSA-MIR-518A-5P99.7069.012209
HSA-MIR-52799.7069.012209
HSA-MIR-569799.3967.741249
HSA-MIR-1911-3P99.1566.17528
HSA-MIR-485-5P99.1064.781889
HSA-MIR-6884-5P99.1064.501987
HSA-MIR-465199.0667.572002
HSA-MIR-60898.9367.832013
HSA-MIR-6846-5P98.8165.861121
HSA-MIR-6848-5P98.8165.491126
HSA-MIR-569198.2367.021335
HSA-MIR-6805-3P98.2367.021334
HSA-MIR-428897.1167.231636
HSA-MIR-1226-5P96.5065.28643
HSA-MIR-63296.0867.17798
HSA-MIR-6853-5P93.9461.88114

Functional genomics

gnomAD constraint: pLI 7.66e-10, LOEUF 1.61, missense Z -1.22 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000292894 — one region, missense o/e 1.08.

Cross-species orthologs

1 orthologs

OrganismSymbolGene ID
drosophila_melanogasterCG13894FBGN0035157

Paralogs (7): THAP3 (ENSG00000041988), THAP1 (ENSG00000131931), ARL14EP (ENSG00000152219), THAP2 (ENSG00000173451), THAP6 (ENSG00000174796), THAP7 (ENSG00000184436), ARL14EPL (ENSG00000268223)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

OrganismUniProtIdentityMethod
Rattus norvegicusQ642B696.3%Diamond
Mus musculusQ6P3Z396.3%Diamond
Macaca fascicularisQ4R7M095.9%Diamond
Bos taurusQ1RMM083.8%Diamond
Gallus gallusQ5ZHN550.6%Diamond
Xenopus laevisQ0IHI747.7%Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

SymbolTypeEntrez
CLIP3protein-coding25999
WDR62protein-coding284403
POLR2Iprotein-coding5438
OVOL3protein-coding728361
ALKBH6protein-coding84964
SYNE4protein-coding163183
TBCBprotein-coding1155
SDHAF1protein-coding644096

Protein

Protein identifiers

THAP domain-containing protein 8 — Q8NA92 (reviewed: Q8NA92)

All UniProt accessions (3): E5RHW1, Q8NA92, U3KQ16

RefSeq proteins (4): NP_001318031, NP_001318032, NP_001318033, NP_689871* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR006612THAP_ZnfDomain
IPR052224THAP_domain_proteinFamily

Pfam: PF05485

UniProt features (8 total): sequence variant 5, chain 1, zinc finger region 1, region of interest 1

Structure

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8NA92-F173.060.42

Human Protein Atlas

Protein class: Predicted intracellular proteins, Transcription factors, Zinc-coordinating DNA-binding domains

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH approved · IF enhanced

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 62 (showing top): E2F_Q4, MYAATNNNNNNNGGC_UNKNOWN, E2F_Q4_01, E2F4DP1_01, MENSE_HYPOXIA_UP, E2F1DP1_01, E2F1DP2_01, E2F1_Q3, IK3_01, E2F_Q3_01, E2F_02, SGCGSSAAA_E2F1DP2_01, E2F_Q6, E2F4DP2_01, MARTENS_TRETINOIN_RESPONSE_UP

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): nucleoplasm (GO:0005654)

GO top-level categories

6 GO namespaces:

CategoryTerms
nucleic acid binding1
transition metal ion binding1
binding1
cation binding1
nuclear lumen1
cellular anatomical structure1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 5 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO termNSEvidence
nucleoplasmCCdirect assay

Protein interactions and networks

STRING

showing 15 of 178 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
THAP8THAP10Q9P2Z0773
THAP8THAP6Q8TBB0570
THAP8THAP12O43422547
THAP8THAP9Q9H5L6547
THAP8TTLL2Q9BWV7515
THAP8OR51M1Q9H341470
THAP8THAP11Q96EK4465
THAP8WSCD2Q2TBF2440
THAP8GAB3Q8WWW8421
THAP8ANKRD18BA2A2Z9390
THAP8ALPK2Q86TB3379
THAP8ZFPM1Q8IX07365
THAP8CHST12Q9NRB3365
THAP8MEX3BQ6ZN04363
THAP8ZNF628Q5EBL2352

IntAct

Human interaction partners of THAP8 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

9 partners by confidence:

PartnerInteraction typeMIscoreRecords
TFIP11physical association0.6705
NMIphysical association0.5603
TMED9physical association0.3701
RAB14association0.3501
SNAP29association0.3501
UBE2D2association0.3501
DYNLL1physical association0.0001
SETDB1physical association0.0001
TP53physical association0.0001

BioGRID (33 interactions; top human partners by supporting records): C9orf16 (Affinity Capture-MS; 3 records), PRMT7 (Affinity Capture-MS; 3 records), LASP1 (Affinity Capture-MS; 2 records), UBE2D2 (Affinity Capture-MS; 2 records), ALCAM (Affinity Capture-MS), ATPIF1 (Affinity Capture-MS), CEP44 (Affinity Capture-MS), CORO1B (Affinity Capture-MS), DAK (Affinity Capture-MS), DYNLL1 (Two-hybrid), EML3 (Affinity Capture-MS), FAM49B (Affinity Capture-MS), HNRNPH1 (Affinity Capture-RNA), MIPOL1 (Affinity Capture-MS), MRS2 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for THAP8: 8 ClinVar records (0 pathogenic / likely pathogenic).

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance7
Likely benign0
Benign0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 37 predictions of 319):

Position(s)EffectΔscoreSites
19:36039321–36039322donor_loss1.00005
19:36054133–36054134donor_loss0.99006
19:36035593–36035594acceptor_loss0.98006
19:36039942–36039943donor_loss0.98005
19:36040137–36040138acceptor_loss0.98005
19:36040137acceptor_loss0.9700
19:36054105donor_gain0.9700
19:36040811donor_gain0.9600
19:36039719–36039720acceptor_loss0.95006
19:36039886donor_gain0.9400

AlphaMissense

328 missense substitutions predicted likely pathogenic (of 1,729 scored), across 71 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
F6280.9660.994
F6780.9400.989
F2980.9240.992
H6180.9100.979
F2680.9050.991
F8580.8910.984
S5980.8350.974
W4070.9660.986
C5870.9420.959
C1070.9330.958
C570.9190.950
W7170.8830.956
S2570.8600.958
W6970.8470.910
W4970.8440.958
H5470.7370.894
D3370.6590.745
P3060.9140.947
P8260.9010.962
P5160.8880.961

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

CancerPrognosticp-value
Liver Hepatocellular Carcinoma (TCGA)unfavorable4.27e-07
Lung Squamous Cell Carcinoma (TCGA)favorable0.000313

Disease associations

OMIM: gene MIM:612536 | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

ChemicalActions (top 5)PubMed papers
(+)-JQ1 compoundincreases expression2
Aflatoxin B1increases methylation, decreases expression2
Cadmium Chloridedecreases expression, increases expression2
TAK-243increases sumoylation1
sodium arsenitedecreases expression1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression1
di-n-butylphosphoric acidaffects expression1
2-palmitoylglycerolincreases expression1
jinfukangaffects cotreatment, increases expression1
Sunitinibincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Cisplatinaffects cotreatment, increases expression1
Dichlorodiphenyl Dichloroethylenedecreases expression1
Estradioldecreases expression1
Hydrogen Peroxideaffects expression1
Lipopolysaccharidesdecreases expression, affects response to substance, increases expression1
Rotenoneincreases expression1
Tobacco Smoke Pollutiondecreases expression1
Urethanedecreases expression1
Valproic Acidincreases methylation1
Particulate Matterdecreases expression, increases abundance1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

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