THAP6

Summary

THAP6 (THAP domain containing 6, HGNC:23189) is a protein-coding gene on chromosome 4q21.1, encoding THAP domain-containing protein 6 (Q8TBB0).

Predicted to enable DNA-binding transcription factor activity; sequence-specific DNA binding activity; and zinc ion binding activity. Predicted to be involved in endothelial cell proliferation and regulation of DNA-templated transcription. Located in microtubule cytoskeleton.

Source: NCBI Gene 152815 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 29 total
• MANE Select transcript: NM_144721

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23189
Approved symbol	THAP6
Name	THAP domain containing 6
Location	4q21.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC30052
Ensembl gene	ENSG00000174796
Ensembl biotype	protein_coding
OMIM	612535
Entrez	152815

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 15 protein_coding, 2 retained_intron

ENST00000311638, ENST00000380837, ENST00000502620, ENST00000503831, ENST00000504190, ENST00000504218, ENST00000504384, ENST00000506261, ENST00000507556, ENST00000507557, ENST00000507885, ENST00000508105, ENST00000514480, ENST00000881888, ENST00000881889, ENST00000881890, ENST00000881891

RefSeq mRNA: 2 — MANE Select: NM_144721 NM_001317791, NM_144721

CCDS: CCDS3568, CCDS82932

Canonical transcript exons

ENST00000311638 — 5 exons

Exon	Start	End
ENSE00001193591	75521736	75521861
ENSE00001193602	75526960	75530026
ENSE00001928755	75514473	75514520
ENSE00003473177	75515433	75515532
ENSE00003579399	75516772	75516979

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 88.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.5470 / max 188.6881, expressed in 1786 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
48300	13.1037	1781
48299	1.4253	959
48298	0.0179	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	88.68	gold quality
secondary oocyte	CL:0000655	88.66	gold quality
mucosa of stomach	UBERON:0001199	87.73	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.16	gold quality
adrenal tissue	UBERON:0018303	86.82	gold quality
right uterine tube	UBERON:0001302	86.38	gold quality
nerve	UBERON:0001021	86.35	gold quality
tibial nerve	UBERON:0001323	86.35	gold quality
sural nerve	UBERON:0015488	86.23	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.46	gold quality
descending thoracic aorta	UBERON:0002345	85.37	gold quality
rectum	UBERON:0001052	85.26	gold quality
right coronary artery	UBERON:0001625	85.23	gold quality
tibial artery	UBERON:0007610	84.90	gold quality
popliteal artery	UBERON:0002250	84.89	gold quality
muscle of leg	UBERON:0001383	84.79	gold quality
gastrocnemius	UBERON:0001388	84.79	gold quality
left lobe of thyroid gland	UBERON:0001120	84.66	gold quality
body of uterus	UBERON:0009853	84.65	gold quality
left ovary	UBERON:0002119	84.49	gold quality
aorta	UBERON:0000947	84.18	gold quality
minor salivary gland	UBERON:0001830	84.16	gold quality
thyroid gland	UBERON:0002046	84.06	gold quality
left coronary artery	UBERON:0001626	84.05	gold quality
smooth muscle tissue	UBERON:0001135	84.03	gold quality
right ovary	UBERON:0002118	83.81	gold quality
right lobe of thyroid gland	UBERON:0001119	83.78	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.77	gold quality
right hemisphere of cerebellum	UBERON:0014890	83.73	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.59	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

121 targeting THAP6, 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-3134	100.00	66.43	777
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-3686	99.90	70.53	2432

Cross-species orthologs

17 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-60a16.1	ENSDARG00000037073
danio_rerio	si:ch211-262i1.5	ENSDARG00000070059
danio_rerio	zgc:153292	ENSDARG00000070458
danio_rerio	si:dkey-56d12.4	ENSDARG00000070845
danio_rerio	si:dkey-20i10.7	ENSDARG00000075269
danio_rerio		ENSDARG00000076082
danio_rerio	zgc:163143	ENSDARG00000076437
danio_rerio	ftr97	ENSDARG00000095125
danio_rerio	si:ch211-69l10.4	ENSDARG00000098036
danio_rerio	zgc:113019	ENSDARG00000099743
danio_rerio	si:ch211-9d9.1	ENSDARG00000099839
danio_rerio	si:dkey-50i6.5	ENSDARG00000101320
danio_rerio		ENSDARG00000104979
danio_rerio		ENSDARG00000112751
		ENSDARG00000115480
rattus_norvegicus	Thap6	ENSRNOG00000058724
drosophila_melanogaster	CG13894	FBGN0035157

Paralogs (7): THAP3 (ENSG00000041988), THAP1 (ENSG00000131931), ARL14EP (ENSG00000152219), THAP8 (ENSG00000161277), THAP2 (ENSG00000173451), THAP7 (ENSG00000184436), ARL14EPL (ENSG00000268223)

Protein

Protein identifiers

THAP domain-containing protein 6 — Q8TBB0 (reviewed: Q8TBB0)

All UniProt accessions (8): Q8TBB0, D6RBC3, D6RC19, D6REL7, D6REQ5, D6RF27, D6RFK7, D6RJG2

Isoforms (3)

UniProt ID	Names	Canonical?
Q8TBB0-1	1	yes
Q8TBB0-2	2
Q8TBB0-3	3

RefSeq proteins (2): NP_001304720, NP_653322* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006612	THAP_Znf	Domain
IPR038441	THAP_Znf_sf	Homologous_superfamily

Pfam: PF05485

UniProt features (6 total): splice variant 2, chain 1, zinc finger region 1, coiled-coil region 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TBB0-F1	73.46	0.30

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 63 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, CART1_01, chr4q21, TST1_01, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_WITH_LMP1_UP, GSE14415_NATURAL_TREG_VS_FOXP3_KO_NATURAL_TREG_DN, CREB3L4_TARGET_GENES, DLX6_TARGET_GENES, E2F2_TARGET_GENES, TEAD2_TARGET_GENES, TFEB_TARGET_GENES, ZNF407_TARGET_GENES, MIR607, MIR3671, MIR548N

GO Biological Process (2): endothelial cell proliferation (GO:0001935), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (6): DNA binding (GO:0003677), zinc ion binding (GO:0008270), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)

GO Cellular Component (3): microtubule cytoskeleton (GO:0015630), nucleus (GO:0005634), nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
epithelial cell proliferation	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
nucleic acid binding	1
transition metal ion binding	1
transcription cis-regulatory region binding	1
regulation of DNA-templated transcription	1
transcription regulator activity	1
binding	1
DNA binding	1
cation binding	1
cytoskeleton	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1548 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
THAP6	THAP8	Q8NA92	677
THAP6	THAP3	Q8WTV1	621
THAP6	THAP10	Q9P2Z0	588
THAP6	THAP12	O43422	473
THAP6	EEF1AKMT1	Q8WVE0	473
THAP6	PTRH1	Q86Y79	445
THAP6	ZNF557	Q8N988	402
THAP6	THAP11	Q96EK4	400
THAP6	TMED5	Q9Y3A6	394
THAP6	RPL7L1	Q6DKI1	386
THAP6	BTF3L4	Q96K17	377
THAP6	THAP5	Q7Z6K1	362
THAP6	HIVEP1	P15822	340
THAP6	THAP4	Q8WY91	336
THAP6	ARHGAP11A	Q6P4F7	327

IntAct

59 interactions, top by confidence:

A	B	Type	Score
KRTAP10-7	THAP6	psi-mi:“MI:0915”(physical association)	0.560
THAP6	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.560
THAP6	PICK1	psi-mi:“MI:0915”(physical association)	0.560
ADAMTSL4	THAP6	psi-mi:“MI:0915”(physical association)	0.560
THAP6	NTAQ1	psi-mi:“MI:0915”(physical association)	0.560
LMO2	THAP6	psi-mi:“MI:0915”(physical association)	0.560
THAP6	ING5	psi-mi:“MI:0915”(physical association)	0.560
KANK2	THAP6	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	THAP6	psi-mi:“MI:0915”(physical association)	0.560
THAP6	MAD2L2	psi-mi:“MI:0915”(physical association)	0.560
ZNF655	THAP6	psi-mi:“MI:0915”(physical association)	0.560
THAP6	CABP2	psi-mi:“MI:0915”(physical association)	0.560
PSMB1	THAP6	psi-mi:“MI:0915”(physical association)	0.560
THAP6	AP1M1	psi-mi:“MI:0915”(physical association)	0.560
INCA1	THAP6	psi-mi:“MI:0915”(physical association)	0.560
ZGPAT	THAP6	psi-mi:“MI:0915”(physical association)	0.560
TNPO2	THAP6	psi-mi:“MI:0915”(physical association)	0.560
OPTN	THAP6	psi-mi:“MI:0915”(physical association)	0.560
THAP6	SDCBP2	psi-mi:“MI:0915”(physical association)	0.370
THAP6	OGT	psi-mi:“MI:0914”(association)	0.350
THAP6	PICK1	psi-mi:“MI:0915”(physical association)	0.000
THAP6	ADAMTSL4	psi-mi:“MI:0915”(physical association)	0.000
NTAQ1	THAP6	psi-mi:“MI:0915”(physical association)	0.000
MAD2L2	THAP6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (20): KRTAP10-7 (Two-hybrid), THAP6 (Two-hybrid), THAP6 (Two-hybrid), THAP6 (Two-hybrid), THAP6 (Two-hybrid), THAP6 (Two-hybrid), THAP6 (Two-hybrid), THAP6 (Two-hybrid), THAP6 (Two-hybrid), THAP6 (Two-hybrid), THAP6 (Two-hybrid), THAP6 (Two-hybrid), INCA1 (Two-hybrid), ZGPAT (Two-hybrid), KANK2 (Two-hybrid)

ESM2 similar proteins: A4IFA3, A4Z943, A4Z944, A4Z945, B2RRL2, D3Z4R1, F1NQJ3, O43422, O60108, O60290, O96006, P08770, P0CF97, P12258, P16320, P34601, Q09772, Q0VBL1, Q17RP2, Q3EBC8, Q3YK19, Q49AG3, Q4R6P1, Q4W5G0, Q5SVZ6, Q5SXJ3, Q6EKJ0, Q6NT04, Q6R2W3, Q7L775, Q7M3K2, Q86UP8, Q8BUZ3, Q8IY51, Q8IZ13, Q8TBB0, Q8TCP9, Q8TDG4, Q8VEH5, Q95M72

Diamond homologs: B5XCB8, Q0IHI7, Q0P5B4, Q1JPT7, Q1RMM0, Q2TBI2, Q3T0G1, Q4R3Q6, Q4R7M0, Q5RCE4, Q5U208, Q5U560, Q5ZHN5, Q642B6, Q6DDT6, Q6DIN8, Q6P3Z3, Q7Z6K1, Q8BJ25, Q8CHW1, Q8NA92, Q8TBB0, Q8WTV1, Q8WY91, Q9NVV9, Q8VCZ3, Q9BT49, Q9H5L6, Q9D305, Q9H0W7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	25
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

728 predictions. Top by Δscore:

Variant	Effect	Δscore
4:75515517:G:GT	donor_gain	1.0000
4:75515531:GT:G	donor_gain	1.0000
4:75515533:G:GG	donor_gain	1.0000
4:75516770:A:AG	acceptor_gain	1.0000
4:75516771:G:GG	acceptor_gain	1.0000
4:75516771:GA:G	acceptor_gain	1.0000
4:75516771:GAT:G	acceptor_gain	1.0000
4:75516771:GATT:G	acceptor_gain	1.0000
4:75516771:GATTC:G	acceptor_gain	1.0000
4:75516909:G:GT	donor_gain	1.0000
4:75521857:TTTTT:T	donor_gain	1.0000
4:75521862:G:GG	donor_gain	1.0000
4:75514209:T:TA	donor_gain	0.9900
4:75514635:A:T	donor_gain	0.9900
4:75515506:G:GT	donor_gain	0.9900
4:75515510:T:G	donor_gain	0.9900
4:75515547:T:TA	donor_gain	0.9900
4:75515548:A:AA	donor_gain	0.9900
4:75515550:T:G	donor_gain	0.9900
4:75516766:TTCTA:T	acceptor_gain	0.9900
4:75516767:TCTAG:T	acceptor_gain	0.9900
4:75516768:CTA:C	acceptor_gain	0.9900
4:75516769:TAGAT:T	acceptor_gain	0.9900
4:75516770:A:C	acceptor_gain	0.9900
4:75516771:G:T	acceptor_gain	0.9900
4:75516938:G:GT	donor_gain	0.9900
4:75521858:TTTT:T	donor_gain	0.9900
4:75515432:GTTTT:G	acceptor_gain	0.9800
4:75515518:A:T	donor_gain	0.9800
4:75516975:TACAG:T	donor_loss	0.9800

AlphaMissense

1483 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:75515525:T:C	F25L	0.999
4:75515527:T:A	F25L	0.999
4:75515527:T:G	F25L	0.999
4:75516803:T:A	W38R	0.999
4:75516803:T:C	W38R	0.999
4:75516805:G:C	W38C	0.999
4:75516805:G:T	W38C	0.999
4:75516888:T:C	F66S	0.999
4:75515465:T:C	C5R	0.998
4:75516774:T:C	F28S	0.998
4:75516848:T:A	W53R	0.998
4:75516848:T:C	W53R	0.998
4:75516850:G:C	W53C	0.998
4:75516850:G:T	W53C	0.998
4:75516875:T:A	C62S	0.998
4:75516875:T:C	C62R	0.998
4:75516876:G:C	C62S	0.998
4:75516887:T:C	F66L	0.998
4:75516889:T:A	F66L	0.998
4:75516889:T:G	F66L	0.998
4:75515467:C:G	C5W	0.997
4:75515480:T:C	C10R	0.997
4:75515528:C:G	H26D	0.997
4:75516773:T:C	F28L	0.997
4:75516775:C:A	F28L	0.997
4:75516775:C:G	F28L	0.997
4:75516804:G:C	W38S	0.997
4:75516855:C:A	P55H	0.997
4:75516873:T:C	L61S	0.997
4:75515526:T:C	F25S	0.996

dbSNP variants (sampled 300 via entrez): RS1000407828 (4:75517459 AT>A), RS1000528743 (4:75518562 T>G), RS1000587755 (4:75512164 T>C,G), RS1000595253 (4:75517190 G>A), RS1000632925 (4:75523686 C>T), RS1000702542 (4:75512427 A>G), RS1000741074 (4:75515690 T>G), RS10009558 (4:75522060 T>C), RS1000988410 (4:75541420 A>G), RS1001001454 (4:75537469 T>G), RS1001191867 (4:75524867 C>G), RS1001246048 (4:75532183 A>G), RS1001252061 (4:75516597 A>C), RS1001289393 (4:75534680 A>T), RS1001300462 (4:75525294 A>G)

Disease associations

OMIM: gene MIM:612535 | 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):

Study	Trait	p-value
GCST90002395_574	Mean platelet volume	2.000000e-11

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression, decreases expression	2
Cyclosporine	increases expression	2
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
trichostatin A	decreases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
ICG 001	increases expression	1
jinfukang	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Coal	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Potassium Chloride	decreases response to substance, decreases expression	1
Smoke	decreases expression, increases abundance	1
Dronabinol	decreases response to substance, decreases expression	1
Valproic Acid	decreases methylation, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Aflatoxin B1	decreases methylation	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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