THAP8

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.

Source: NCBI Gene 199745 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 8 total
• 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: 7 — 4 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000292894, ENST00000522483, ENST00000524106, ENST00000607730, ENST00000872539, ENST00000944564, ENST00000944565

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.

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

237 total, 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

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting THAP8, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

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

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)

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

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NA92-F1	73.06	0.42

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

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 Biological Process (0):

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 (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleic acid binding	1
transition metal ion binding	1
binding	1
cation binding	1

Protein interactions and networks

STRING

184 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
THAP8	THAP10	Q9P2Z0	697
THAP8	THAP6	Q8TBB0	677
THAP8	HCFC1	P51610	605
THAP8	THAP12	O43422	583
THAP8	THAP9	Q9H5L6	582
THAP8	THAP11	Q96EK4	581
THAP8	ANKRD18B	A2A2Z9	570
THAP8	RBM48	Q5RL73	507
THAP8	THAP3	Q8WTV1	490
THAP8	FAM133B	Q5BKY9	448
THAP8	ALKBH6	Q3KRA9	433
THAP8	SLF1	Q9BQI6	396
THAP8	CLIP3	Q96DZ5	380
THAP8	HEPACAM2	A8MVW5	367
THAP8	ANO7	Q6IWH7	365

IntAct

17 interactions, top by confidence:

A	B	Type	Score
TFIP11	THAP8	psi-mi:“MI:0915”(physical association)	0.670
THAP8	TFIP11	psi-mi:“MI:0915”(physical association)	0.670
NMI	THAP8	psi-mi:“MI:0915”(physical association)	0.560
TMED9	THAP8	psi-mi:“MI:0915”(physical association)	0.370
THAP8	UBE2D2	psi-mi:“MI:0914”(association)	0.350
THAP8	SNAP29	psi-mi:“MI:0914”(association)	0.350
THAP8	RAB14	psi-mi:“MI:0914”(association)	0.350
THAP8	NMI	psi-mi:“MI:0915”(physical association)	0.000
THAP8	purL	psi-mi:“MI:0915”(physical association)	0.000
THAP8	SETDB1	psi-mi:“MI:0915”(physical association)	0.000
THAP8	DYNLL1	psi-mi:“MI:0915”(physical association)	0.000
THAP8	TP53	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (33): THAP8 (Two-hybrid), UBE2D2 (Affinity Capture-MS), LASP1 (Affinity Capture-MS), PRMT7 (Affinity Capture-MS), C9orf16 (Affinity Capture-MS), PRMT7 (Affinity Capture-MS), UBE2D2 (Affinity Capture-MS), LASP1 (Affinity Capture-MS), C9orf16 (Affinity Capture-MS), DYNLL1 (Two-hybrid), TP53 (Two-hybrid), SETDB1 (Two-hybrid), THAP8 (Two-hybrid), THAP8 (Affinity Capture-RNA), MIPOL1 (Affinity Capture-MS)

ESM2 similar proteins: A2AGX3, A4Q9F3, A6QPH9, D3YYI7, E9PGG2, P29590, Q0P5B4, Q0VC73, Q2TBI2, Q3T0G1, Q45KJ4, Q45KJ6, Q4R7H0, Q5BJT4, Q5E9N3, Q5NVM3, Q5PPH4, Q5U208, Q5XI57, Q642B6, Q6P3Z3, Q6P9L4, Q6ZN17, Q6ZVT0, Q70EL4, Q7L4P6, Q8AVK2, Q8BJ25, Q8BUM9, Q8C6D4, Q8CDF7, Q8CE64, Q8CHW1, Q8N554, Q8NA92, Q8NFT6, Q8TC41, Q8VCZ3, Q8WTV1, Q8WY91

Diamond homologs: B5XCB8, Q0IHI7, Q1JPT7, Q1RMM0, Q2TBI2, Q3T0G1, Q4R3Q6, Q4R7M0, Q5RCE4, Q5U208, Q5U560, Q5ZHN5, Q642B6, Q6DDT6, Q6DIN8, Q6P3Z3, Q7Z6K1, Q8BJ25, Q8CHW1, Q8NA92, Q8WTV1, Q8WY91, Q9NVV9, Q0P5B4, Q8VCZ3, Q9BT49, Q9D305, Q9H0W7, A0PT73, A0QIQ0, A0R6J8, A1KM55, A1T297, A3PTJ4, A5U669, B2HLY1, O64527, P9WFG6, P9WFG7, Q1BEZ2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

703 predictions. Top by Δscore:

Variant	Effect	Δscore
19:36039315:CCACT:C	donor_loss	1.0000
19:36039316:CACTC:C	donor_loss	1.0000
19:36039317:ACTCA:A	donor_loss	1.0000
19:36039318:CTCA:C	donor_loss	1.0000
19:36039319:TCA:T	donor_loss	1.0000
19:36039320:CA:C	donor_loss	1.0000
19:36039321:A:AC	donor_gain	1.0000
19:36039321:A:C	donor_loss	1.0000
19:36039322:C:CG	donor_loss	1.0000
19:36039322:C:CT	donor_gain	1.0000
19:36039322:CCAGG:C	donor_gain	1.0000
19:36035593:C:CC	acceptor_gain	0.9900
19:36039321:AC:A	donor_gain	0.9900
19:36039322:CC:C	donor_gain	0.9900
19:36039322:CCAG:C	donor_gain	0.9900
19:36040759:C:CA	donor_gain	0.9900
19:36054133:A:AC	donor_gain	0.9900
19:36054134:C:CC	donor_gain	0.9900
19:36035591:GTC:G	acceptor_loss	0.9800
19:36035593:C:CG	acceptor_loss	0.9800
19:36039322:CCA:C	donor_gain	0.9800
19:36039938:GCTCA:G	donor_loss	0.9800
19:36039939:CTCA:C	donor_loss	0.9800
19:36039940:TCAC:T	donor_loss	0.9800
19:36039941:CACCT:C	donor_loss	0.9800
19:36039942:ACCTT:A	donor_loss	0.9800
19:36039943:C:A	donor_loss	0.9800
19:36040137:C:CG	acceptor_loss	0.9800
19:36035589:TTGT:T	acceptor_gain	0.9700
19:36035590:TGT:T	acceptor_gain	0.9700

AlphaMissense

1729 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:36040034:G:C	F62L	0.994
19:36040034:G:T	F62L	0.994
19:36040036:A:G	F62L	0.994
19:36040133:G:C	F29L	0.992
19:36040133:G:T	F29L	0.992
19:36040135:A:G	F29L	0.992
19:36040035:A:G	F62S	0.991
19:36054140:G:C	F26L	0.991
19:36054140:G:T	F26L	0.991
19:36054142:A:G	F26L	0.991
19:36040019:G:C	F67L	0.989
19:36040019:G:T	F67L	0.989
19:36040021:A:G	F67L	0.989
19:36040035:A:C	F62C	0.988
19:36040134:A:G	F29S	0.987
19:36040100:C:A	W40C	0.986
19:36040100:C:G	W40C	0.986
19:36040134:A:C	F29C	0.986
19:36039965:G:C	F85L	0.984
19:36039965:G:T	F85L	0.984
19:36039967:A:G	F85L	0.984
19:36040020:A:G	F67S	0.984
19:36040102:A:G	W40R	0.984
19:36040102:A:T	W40R	0.984
19:36040050:A:G	L57S	0.983
19:36040020:A:C	F67C	0.980
19:36040037:G:C	H61Q	0.979
19:36040037:G:T	H61Q	0.979
19:36040043:G:C	S59R	0.974
19:36040043:G:T	S59R	0.974

dbSNP variants (sampled 300 via entrez): RS1000179550 (19:36050792 C>G,T), RS1000204745 (19:36035739 C>A,G,T), RS1000309337 (19:36035210 G>A), RS1000385320 (19:36040972 A>C), RS1000570397 (19:36055198 C>G,T), RS1000871225 (19:36045338 G>A), RS1000952271 (19:36043050 T>C), RS1001289879 (19:36053862 T>C), RS1001307431 (19:36036924 G>C), RS1001390886 (19:36035161 C>A,T), RS1001650433 (19:36039880 G>A,T), RS1001689363 (19:36041500 A>G), RS1001925230 (19:36035786 G>C), RS1001950038 (19:36039216 G>A,T), RS1002088664 (19:36045122 C>T)

Disease associations

OMIM: gene MIM:612536 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

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	decreases expression, increases methylation	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	increases expression, affects cotreatment	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	affects response to substance, increases expression, decreases 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)

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