THAP8
gene geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:23191 |
| Approved symbol | THAP8 |
| Name | THAP domain containing 8 |
| Location | 19q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ32891 |
| Ensembl gene | ENSG00000161277 |
| Ensembl biotype | protein_coding |
| OMIM | 612536 |
| Entrez | 199745 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00001057357 | 36039944 | 36040136 |
| ENSE00001114897 | 36034984 | 36035592 |
| ENSE00001387660 | 36054135 | 36054285 |
| ENSE00003669000 | 36039323 | 36039718 |
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:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Skin Sun Exposed Lower leg | eqtl | 5.1e-32 | +0.26 | 19:36042293:A:C |
| Skin Not Sun Exposed Suprapubic | eqtl | 8.9e-29 | +0.27 | 19:36045178:G:C |
| Nerve Tibial | eqtl | 2.3e-24 | +0.24 | 19:36056717:A:G |
| Brain Spinal cord cervical c-1 | eqtl | 3.0e-14 | +0.49 | 19:36045213:G:A |
| Artery Tibial | eqtl | 6.0e-11 | +0.17 | 19:36042293:A:C |
| Esophagus Mucosa | eqtl | 5.3e-08 | +0.15 | 19:36053863:C:G |
| Muscle Skeletal | eqtl | 4.9e-06 | -0.27 | 19:36116392:G:A |
| Cells Cultured fibroblasts | eqtl | 4.5e-05 | -0.14 | 19:36034328:CTCT:C |
| Brain Substantia nigra | eqtl | 3.7e-04 | +0.30 | 19:36075331:G:A |
| Nerve Tibial | sqtl | 4.1e-04 | +1.37 | 19:35907691:C:T |
| Whole Blood | eqtl | 8.0e-04 | -0.11 | 19:36101850:G:T |
| Heart Atrial Appendage | eqtl | 1.5e-03 | +0.15 | 19:35520093:G:T |
| Heart Atrial Appendage | sqtl | 1.6e-03 | +0.88 | 19:35986402:G:A |
| Brain Caudate basal ganglia | eqtl | 4.3e-03 | +0.44 | 19:36069797:C:T |
| Skin Sun Exposed Lower leg | sqtl | 5.2e-03 | -0.27 | 19:36119883:G:A |
| Brain Cortex | eqtl | 1.4e-02 | +0.83 | 19:35129238:T:G |
| Brain Hippocampus | eqtl | 1.8e-02 | +0.21 | 19:36101850:G:T |
| Colon Sigmoid | eqtl | 2.0e-02 | +0.13 | 19:36042293:A:C |
| Adipose Subcutaneous | eqtl | 2.1e-02 | +0.45 | 19:36203536:C:T |
| Brain Frontal Cortex BA9 | eqtl | 2.6e-02 | +0.21 | 19:36079243:A:G |
FANTOM5 promoters
4 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180645 | 3.8996 | 1494 |
| 180646 | 1.7827 | 1036 |
| 180647 | 0.3744 | 176 |
| 180648 | 0.1375 | 69 |
Top tissues by expression
showing 100 of 237 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 92.56 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 92.12 | gold quality |
| tibialis anterior | UBERON:0001385 | 88.08 | silver quality |
| ileal mucosa | UBERON:0000331 | 84.51 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 83.44 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 82.01 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.95 | gold quality |
| left testis | UBERON:0004533 | 81.68 | gold quality |
| right testis | UBERON:0004534 | 81.65 | gold quality |
| apex of heart | UBERON:0002098 | 81.23 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 81.20 | gold quality |
| lower esophagus | UBERON:0013473 | 81.10 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 81.06 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 80.36 | gold quality |
| testis | UBERON:0000473 | 79.94 | gold quality |
| tibial nerve | UBERON:0001323 | 79.50 | gold quality |
| spinal cord | UBERON:0002240 | 78.90 | gold quality |
| granulocyte | CL:0000094 | 78.70 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.63 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 78.28 | gold quality |
| prefrontal cortex | UBERON:0000451 | 78.19 | gold quality |
| ectocervix | UBERON:0012249 | 77.75 | gold quality |
| muscle of leg | UBERON:0001383 | 77.64 | gold quality |
| gastrocnemius | UBERON:0001388 | 77.64 | gold quality |
| right frontal lobe | UBERON:0002810 | 77.59 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 77.47 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 77.31 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 77.17 | gold quality |
| right adrenal gland | UBERON:0001233 | 77.13 | gold quality |
| esophagus | UBERON:0001043 | 76.72 | gold quality |
| body of uterus | UBERON:0009853 | 76.68 | gold quality |
| hypothalamus | UBERON:0001898 | 76.65 | gold quality |
| cortical plate | UBERON:0005343 | 76.64 | gold quality |
| ganglionic eminence | UBERON:0004023 | 76.55 | gold quality |
| endocervix | UBERON:0000458 | 76.49 | gold quality |
| ventricular zone | UBERON:0003053 | 76.28 | gold quality |
| amygdala | UBERON:0001876 | 76.02 | gold quality |
| transverse colon | UBERON:0001157 | 75.85 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 75.81 | gold quality |
| right lobe of liver | UBERON:0001114 | 75.62 | gold quality |
| right coronary artery | UBERON:0001625 | 75.60 | gold quality |
| popliteal artery | UBERON:0002250 | 75.56 | gold quality |
| tibial artery | UBERON:0007610 | 75.54 | gold quality |
| left uterine tube | UBERON:0001303 | 75.41 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 75.27 | gold quality |
| substantia nigra | UBERON:0002038 | 75.21 | gold quality |
| right ovary | UBERON:0002118 | 75.18 | gold quality |
| left coronary artery | UBERON:0001626 | 75.08 | gold quality |
| left adrenal gland | UBERON:0001234 | 75.07 | gold quality |
| skin of abdomen | UBERON:0001416 | 74.99 | gold quality |
| muscle organ | UBERON:0001630 | 74.91 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 74.80 | gold quality |
| aorta | UBERON:0000947 | 74.66 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 74.62 | gold quality |
| mucosa of stomach | UBERON:0001199 | 74.61 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 74.53 | gold quality |
| cerebellar cortex | UBERON:0002129 | 74.46 | gold quality |
| metanephros cortex | UBERON:0010533 | 74.41 | gold quality |
| caudate nucleus | UBERON:0001873 | 74.39 | gold quality |
| heart left ventricle | UBERON:0002084 | 74.32 | gold quality |
| omental fat pad | UBERON:0010414 | 74.32 | gold quality |
| peritoneum | UBERON:0002358 | 74.23 | gold quality |
| neocortex | UBERON:0001950 | 74.09 | gold quality |
| skin of leg | UBERON:0001511 | 74.08 | gold quality |
| putamen | UBERON:0001874 | 74.04 | gold quality |
| body of stomach | UBERON:0001161 | 73.97 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 73.94 | gold quality |
| thoracic aorta | UBERON:0001515 | 73.93 | gold quality |
| ascending aorta | UBERON:0001496 | 73.88 | gold quality |
| frontal cortex | UBERON:0001870 | 73.74 | gold quality |
| cardiac ventricle | UBERON:0002082 | 73.60 | gold quality |
| right atrium auricular region | UBERON:0006631 | 73.55 | gold quality |
| esophagus mucosa | UBERON:0002469 | 73.54 | gold quality |
| nucleus accumbens | UBERON:0001882 | 73.36 | gold quality |
| colon | UBERON:0001155 | 73.34 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 73.31 | gold quality |
| coronary artery | UBERON:0001621 | 73.24 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 73.19 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 73.17 | gold quality |
| adenohypophysis | UBERON:0002196 | 73.14 | gold quality |
| left ovary | UBERON:0002119 | 73.09 | gold quality |
| leukocyte | CL:0000738 | 72.85 | gold quality |
| cerebellum | UBERON:0002037 | 72.83 | gold quality |
| adrenal cortex | UBERON:0001235 | 72.75 | gold quality |
| decidua | UBERON:0002450 | 72.68 | gold quality |
| right uterine tube | UBERON:0001302 | 72.66 | gold quality |
| deltoid | UBERON:0001476 | 72.50 | silver quality |
| cardiac atrium | UBERON:0002081 | 72.50 | gold quality |
| monocyte | CL:0000576 | 72.44 | gold quality |
| gall bladder | UBERON:0002110 | 72.36 | gold quality |
| large intestine | UBERON:0000059 | 72.23 | gold quality |
| kidney epithelium | UBERON:0004819 | 72.07 | gold quality |
| heart | UBERON:0000948 | 71.96 | gold quality |
| adrenal gland | UBERON:0002369 | 71.82 | gold quality |
| cerebral cortex | UBERON:0000956 | 71.75 | gold quality |
| spleen | UBERON:0002106 | 71.72 | gold quality |
| intestine | UBERON:0000160 | 71.70 | gold quality |
| small intestine | UBERON:0002108 | 71.63 | gold quality |
| forebrain | UBERON:0001890 | 71.53 | gold quality |
| zone of skin | UBERON:0000014 | 71.50 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.69 |
HPA expression
RNA tissue specificity: Low tissue specificity
showing 60 of 76 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Corpus callosum | tissue | 16.7 | |
| Cerebellum | tissue | 12.8 | low |
| Amygdala | tissue | 12.7 | |
| Spinal cord | tissue | 12.6 | |
| Cerebral cortex | tissue | 12.1 | medium |
| Retrosplenial cortex | tissue | 12.1 | |
| Insular cortex | tissue | 12.1 | |
| Ventral pallidum | tissue | 11.6 | |
| Locus coeruleus | tissue | 11.4 | |
| Olfactory bulb | tissue | 11.4 | |
| Medulla oblongata | tissue | 11.2 | |
| Cingulate cortex | tissue | 11.2 | |
| Basal ganglia | tissue | 11.1 | medium |
| Periaqueductal gray | tissue | 11.1 | |
| Hippocampal formation | tissue | 10.9 | |
| Septum | tissue | 10.8 | |
| Temporal cortex | tissue | 10.8 | |
| Midbrain | tissue | 10.7 | |
| Hypothalamus | tissue | 10.3 | |
| Substantia nigra | tissue | 10.3 | |
| Prefrontal cortex | tissue | 9.9 | |
| Superior colliculi | tissue | 9.9 | |
| Occipital cortex | tissue | 9.9 | |
| Motor cortex | tissue | 9.7 | |
| Skeletal muscle | tissue | 9.5 | low |
| Entorhinal cortex | tissue | 9.5 | |
| Somatosensory cortex | tissue | 9.4 | |
| Putamen | tissue | 9.3 | |
| Pons | tissue | 8.6 | |
| Thalamus | tissue | 8.6 | |
| Hippocampus | tissue | 7.7 | not detected |
| Nucleus accumbens | tissue | 6.5 | |
| Postcentral gyrus | tissue | 6.2 | |
| Vagina | tissue | 6.0 | high |
| Skin 1 | tissue | 5.0 | medium |
| Testis | tissue | 5.0 | medium |
| Pituitary gland | tissue | 4.8 | |
| Ovary | tissue | 4.6 | medium |
| Retina | tissue | 4.2 | |
| Smooth muscle | tissue | 4.1 | not detected |
| Choroid plexus | tissue | 4.1 | |
| Seminal vesicle | tissue | 4.0 | not detected |
| Thymus | tissue | 3.8 | |
| Fallopian tube | tissue | 3.6 | medium |
| Duodenum | tissue | 3.5 | high |
| Parathyroid gland | tissue | 3.4 | not detected |
| Gallbladder | tissue | 3.3 | medium |
| Heart muscle | tissue | 3.2 | not detected |
| Endometrium 1 | tissue | 3.2 | low |
| Epididymis | tissue | 3.2 | high |
| Spleen | tissue | 3.2 | not detected |
| Small intestine | tissue | 3.1 | high |
| Prostate | tissue | 3.1 | not detected |
| Cervix | tissue | 3.0 | high |
| Adipose tissue | tissue | 3.0 | not detected |
| Tongue | tissue | 3.0 | |
| Adrenal gland | tissue | 3.0 | high |
| Lymph node | tissue | 2.9 | medium |
| Esophagus | tissue | 2.9 | high |
| Thyroid gland | tissue | 2.9 | medium |
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:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| HSA-MIR-5697 | 99.39 | 67.74 | 1249 |
| HSA-MIR-1911-3P | 99.15 | 66.17 | 528 |
| HSA-MIR-485-5P | 99.10 | 64.78 | 1889 |
| HSA-MIR-6884-5P | 99.10 | 64.50 | 1987 |
| HSA-MIR-4651 | 99.06 | 67.57 | 2002 |
| HSA-MIR-608 | 98.93 | 67.83 | 2013 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-5691 | 98.23 | 67.02 | 1335 |
| HSA-MIR-6805-3P | 98.23 | 67.02 | 1334 |
| HSA-MIR-4288 | 97.11 | 67.23 | 1636 |
| HSA-MIR-1226-5P | 96.50 | 65.28 | 643 |
| HSA-MIR-632 | 96.08 | 67.17 | 798 |
| HSA-MIR-6853-5P | 93.94 | 61.88 | 114 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| drosophila_melanogaster | CG13894 | FBGN0035157 |
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.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Rattus norvegicus | Q642B6 | 96.3% | Diamond |
| Mus musculus | Q6P3Z3 | 96.3% | Diamond |
| Macaca fascicularis | Q4R7M0 | 95.9% | Diamond |
| Bos taurus | Q1RMM0 | 83.8% | Diamond |
| Gallus gallus | Q5ZHN5 | 50.6% | Diamond |
| Xenopus laevis | Q0IHI7 | 47.7% | 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).
| Symbol | Type | Entrez |
|---|---|---|
| CLIP3 | protein-coding | 25999 |
| WDR62 | protein-coding | 284403 |
| POLR2I | protein-coding | 5438 |
| OVOL3 | protein-coding | 728361 |
| ALKBH6 | protein-coding | 84964 |
| SYNE4 | protein-coding | 163183 |
| TBCB | protein-coding | 1155 |
| SDHAF1 | protein-coding | 644096 |
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)
| ID | Name | Type |
|---|---|---|
| IPR006612 | THAP_Znf | Domain |
| IPR052224 | THAP_domain_protein | Family |
Pfam: PF05485
UniProt features (8 total): sequence variant 5, chain 1, zinc finger region 1, region of interest 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NA92-F1 | 73.06 | 0.42 |
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:
| Category | Terms |
|---|---|
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
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 term | NS | Evidence |
|---|---|---|
| nucleoplasm | CC | direct assay |
Protein interactions and networks
STRING
showing 15 of 178 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| THAP8 | THAP10 | Q9P2Z0 | 773 |
| THAP8 | THAP6 | Q8TBB0 | 570 |
| THAP8 | THAP12 | O43422 | 547 |
| THAP8 | THAP9 | Q9H5L6 | 547 |
| THAP8 | TTLL2 | Q9BWV7 | 515 |
| THAP8 | OR51M1 | Q9H341 | 470 |
| THAP8 | THAP11 | Q96EK4 | 465 |
| THAP8 | WSCD2 | Q2TBF2 | 440 |
| THAP8 | GAB3 | Q8WWW8 | 421 |
| THAP8 | ANKRD18B | A2A2Z9 | 390 |
| THAP8 | ALPK2 | Q86TB3 | 379 |
| THAP8 | ZFPM1 | Q8IX07 | 365 |
| THAP8 | CHST12 | Q9NRB3 | 365 |
| THAP8 | MEX3B | Q6ZN04 | 363 |
| THAP8 | ZNF628 | Q5EBL2 | 352 |
IntAct
Human interaction partners of THAP8 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
9 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| TFIP11 | physical association | 0.670 | 5 |
| NMI | physical association | 0.560 | 3 |
| TMED9 | physical association | 0.370 | 1 |
| RAB14 | association | 0.350 | 1 |
| SNAP29 | association | 0.350 | 1 |
| UBE2D2 | association | 0.350 | 1 |
| DYNLL1 | physical association | 0.000 | 1 |
| SETDB1 | physical association | 0.000 | 1 |
| TP53 | physical association | 0.000 | 1 |
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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 7 |
| Likely benign | 0 |
| Benign | 0 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 37 predictions of 319):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 19:36039321–36039322 | donor_loss | 1.0000 | 5 |
| 19:36054133–36054134 | donor_loss | 0.9900 | 6 |
| 19:36035593–36035594 | acceptor_loss | 0.9800 | 6 |
| 19:36039942–36039943 | donor_loss | 0.9800 | 5 |
| 19:36040137–36040138 | acceptor_loss | 0.9800 | 5 |
| 19:36040137 | acceptor_loss | 0.9700 | |
| 19:36054105 | donor_gain | 0.9700 | |
| 19:36040811 | donor_gain | 0.9600 | |
| 19:36039719–36039720 | acceptor_loss | 0.9500 | 6 |
| 19:36039886 | donor_gain | 0.9400 |
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:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| F62 | 8 | 0.966 | 0.994 |
| F67 | 8 | 0.940 | 0.989 |
| F29 | 8 | 0.924 | 0.992 |
| H61 | 8 | 0.910 | 0.979 |
| F26 | 8 | 0.905 | 0.991 |
| F85 | 8 | 0.891 | 0.984 |
| S59 | 8 | 0.835 | 0.974 |
| W40 | 7 | 0.966 | 0.986 |
| C58 | 7 | 0.942 | 0.959 |
| C10 | 7 | 0.933 | 0.958 |
| C5 | 7 | 0.919 | 0.950 |
| W71 | 7 | 0.883 | 0.956 |
| S25 | 7 | 0.860 | 0.958 |
| W69 | 7 | 0.847 | 0.910 |
| W49 | 7 | 0.844 | 0.958 |
| H54 | 7 | 0.737 | 0.894 |
| D33 | 7 | 0.659 | 0.745 |
| P30 | 6 | 0.914 | 0.947 |
| P82 | 6 | 0.901 | 0.962 |
| P51 | 6 | 0.888 | 0.961 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
2 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Liver Hepatocellular Carcinoma (TCGA) | unfavorable | 4.27e-07 |
| Lung Squamous Cell Carcinoma (TCGA) | favorable | 0.000313 |
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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | increases expression | 2 |
| Aflatoxin B1 | increases methylation, decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| sodium arsenite | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression | 1 |
| Rotenone | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.