THSD7A

Summary

THSD7A (thrombospondin type 1 domain containing 7A, HGNC:22207) is a protein-coding gene on chromosome 7p21.3, encoding Thrombospondin type-1 domain-containing protein 7A (Q9UPZ6). Plays a role in actin cytoskeleton rearrangement.

The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis.

Source: NCBI Gene 221981 — RefSeq curated summary.

At a glance

• GWAS associations: 29
• Clinical variants (ClinVar): 340 total
• MANE Select transcript: NM_015204

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22207
Approved symbol	THSD7A
Name	thrombospondin type 1 domain containing 7A
Location	7p21.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0960
Ensembl gene	ENSG00000005108
Ensembl biotype	protein_coding
OMIM	612249
Entrez	221981

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding_CDS_not_defined, 1 retained_intron, 1 protein_coding

ENST00000408005, ENST00000423059, ENST00000480061, ENST00000497575

RefSeq mRNA: 1 — MANE Select: NM_015204 NM_015204

CCDS: CCDS47543

Canonical transcript exons

ENST00000423059 — 28 exons

Exon	Start	End
ENSE00000448595	11401795	11401968
ENSE00000671689	11379630	11379712
ENSE00000671714	11382521	11382616
ENSE00000671733	11406300	11406474
ENSE00000671735	11406910	11407055
ENSE00000671737	11407306	11407423
ENSE00000671739	11411207	11411322
ENSE00000671741	11412656	11412800
ENSE00000671743	11417450	11417603
ENSE00000671748	11428947	11429125
ENSE00000671751	11446061	11446324
ENSE00000671774	11460662	11460765
ENSE00000671775	11462011	11462143
ENSE00000671776	11469879	11469994
ENSE00000671780	11593254	11593502
ENSE00000671781	11590460	11590641
ENSE00000671783	11542962	11543117
ENSE00000831770	11474334	11474568
ENSE00000831771	11481788	11481982
ENSE00001209499	11636130	11636961
ENSE00001538021	11831757	11832198
ENSE00001547982	11370365	11375878
ENSE00001558380	11424696	11424829
ENSE00001592488	11426666	11426671
ENSE00003469483	11447230	11447424
ENSE00003590559	11376570	11376657
ENSE00003601667	11379070	11379280
ENSE00003606830	11541419	11541631

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 95.93.

FANTOM5 (CAGE): breadth broad, TPM avg 2.1546 / max 138.6787, expressed in 455 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
82761	0.6673	282
82762	0.6338	250
82759	0.3966	206
82763	0.1609	81
82753	0.1100	5
82760	0.0976	41
82757	0.0431	5
82751	0.0122	5
82752	0.0086	3
82754	0.0080	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
decidua	UBERON:0002450	95.93	gold quality
renal glomerulus	UBERON:0000074	95.70	gold quality
metanephric glomerulus	UBERON:0004736	95.17	gold quality
renal medulla	UBERON:0000362	94.96	gold quality
kidney epithelium	UBERON:0004819	91.81	gold quality
metanephros	UBERON:0000081	90.39	gold quality
placenta	UBERON:0001987	89.95	gold quality
buccal mucosa cell	CL:0002336	89.32	gold quality
sural nerve	UBERON:0015488	88.45	gold quality
dorsal root ganglion	UBERON:0000044	87.92	gold quality
visceral pleura	UBERON:0002401	87.79	gold quality
secondary oocyte	CL:0000655	87.47	gold quality
nephron tubule	UBERON:0001231	86.64	gold quality
trigeminal ganglion	UBERON:0001675	86.29	gold quality
cauda epididymis	UBERON:0004360	86.15	gold quality
endothelial cell	CL:0000115	85.93	gold quality
Brodmann (1909) area 23	UBERON:0013554	85.62	gold quality
cortex of kidney	UBERON:0001225	85.54	gold quality
medial globus pallidus	UBERON:0002477	85.08	gold quality
kidney	UBERON:0002113	84.50	gold quality
middle temporal gyrus	UBERON:0002771	84.30	gold quality
adrenal tissue	UBERON:0018303	84.19	gold quality
pigmented layer of retina	UBERON:0001782	83.51	gold quality
cortical plate	UBERON:0005343	82.79	gold quality
ganglionic eminence	UBERON:0004023	82.57	gold quality
primary visual cortex	UBERON:0002436	82.35	gold quality
globus pallidus	UBERON:0001875	82.34	gold quality
lower lobe of lung	UBERON:0008949	82.10	gold quality
cranial nerve II	UBERON:0000941	81.87	gold quality
pleura	UBERON:0000977	81.53	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 15.

Experiment	Marker?	Max mean expression
E-GEOD-75140	yes	1733.45
E-GEOD-114530	yes	1710.25
E-GEOD-124472	yes	1422.91
E-HCAD-5	yes	784.83
E-GEOD-81608	yes	228.36
E-MTAB-5061	yes	198.34
E-ENAD-27	yes	156.26
E-HCAD-35	yes	74.09
E-HCAD-25	yes	39.40
E-CURD-119	yes	24.72
E-HCAD-10	yes	23.17
E-GEOD-137537	yes	14.45
E-ANND-3	yes	8.83
E-GEOD-83139	yes	5.31
E-HCAD-31	yes	4.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

377 targeting THSD7A, 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-6867-5P	100.00	82.21	3464
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882

Literature-anchored findings (GeneRIF, showing 23)

• Variations may be important determinants of osteoporosis in Japanese women. (PMID:18488137)
• Thrombospondin type I domain containing 7A (THSD7A) mediates endothelial cell migration and tube formation. (PMID:20020485)
• THSD7A is a membrane-associated N-glycoprotein with a soluble form. (PMID:22194972)
• results suggest that Japanese subjects homozygous for the risk alleles of rs7605378 in FONG and rs12673629 in THSD7A have a significantly higher risk of vertebral fracture (PMID:23303384)
• 15 of 154 patients with idiopathic membranous nephropathy had circulating autoantibodies to THSD7A but not to PLA2R1, a finding that suggests a distinct subgroup of patients with this condition. (PMID:25394321)
• THSD7A is neural N-glycoprotein, which promotes angiogenesis and it is well known that angiogenesis modulates obesity, adipose metabolism and insulin sensitivity, hence our result find a correlation. (PMID:26238973)
• Data indicate that enhanced granular expression of phospholipase A2 receptor (PLA2R) and thrombospondin type-1 domain-containing 7A (THSD7A) was detected in 9.1% and 52.7%, respectively, of the patients with idiopathic membranous nephropathy (MN). (PMID:26393352)
• This study provides novel data on the function of THSD7A in human placental cells, and extends knowledge of how miR-210 is involved in the development of the preeclampsia. (PMID:26796133)
• Anti-M-type phospholipase A2 receptor (anti-PLA2R) and anti-THSD7A (thrombospondin type-1 domain-containing 7A) were detected only in membranous neurophathy (MN) patient sera and not in controls. (PMID:27634909)
• High THSD7A expression is associated with membranous nephropathy and cancer. (PMID:28035718)
• THSD7A-associated membranous nephropathy has a low prevalence in Chinese patients. (PMID:28801527)
• Several risk alleles related to the PLA2R1 gene and within the HLA loci have been identified, whereas epitope spreading of PLA2R may predict treatment response. More recently, thrombospondin type 1 domain-containing 7A (THSD7A) antibodies have been discovered in primary membranous nephropathy . (PMID:28904948)
• SCML4 and THSD7A are identified as novel susceptibility genes for coronary artery disease. (PMID:29472232)
• We propose a revised clinical workup flow for patients with MN that recommends assessment of kidney biopsy for PLA2R1 and THSD7A antigen expression, screening for circulating anti-podocytes antibodies, and assessment for secondary causes, especially cancer, in patients with THSD7A antibodies (PMID:29511687)
• Human anti-THSD7A protein antibodies induce membranous nephropathy through activation of lectin complement pathway. (PMID:29769410)
• Results show a homology model of the extracellular portion of the thrombospondin type-1 domain containing 7A (THSD7A) antigen. (PMID:30520531)
• Autoantigens PLA2R and THSD7A in membranous nephropathy share a common epitope motif in the N-terminal domain. (PMID:31395435)
• Expression of THSD7A in neoplasm tissues and its relationship with proteinuria. (PMID:31443644)
• Clinical characteristics of thrombospondin type-1 domain-containing 7A-associated membranous nephropathy. (PMID:32935600)
• Renal expression of PLA2R, THSD7A, and IgG4 in patients with membranous nephropathy and correlation with clinical findings. (PMID:33249733)
• Case Report: THSD7A-Positive Membranous Nephropathy Caused by Tislelizumab in a Lung Cancer Patient. (PMID:34040602)
• Comprehensively characterizing cellular changes and the expression of THSD7A and PLA2R1 under multiple in vitro models of podocyte injury. (PMID:35670653)
• [Clinical Significance of Thrombospondin Type 1 Domain-Containing 7A and Neural Epidermal Growth Factor-Like 1 Protein in M-Type Phospholipase A2 Receptor-Negative Membranous Nephropathy]. (PMID:37157070)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	thsd7aa	ENSDARG00000061479
danio_rerio	thsd7ab	ENSDARG00000090496
mus_musculus	Thsd7a	ENSMUSG00000032625
rattus_norvegicus	Thsd7a	ENSRNOG00000030151

Paralogs (3): THSD7B (ENSG00000144229), SPON2 (ENSG00000159674), SPON1 (ENSG00000262655)

Protein

Protein identifiers

Thrombospondin type-1 domain-containing protein 7A — Q9UPZ6 (reviewed: Q9UPZ6)

All UniProt accessions (1): Q9UPZ6

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in actin cytoskeleton rearrangement. The soluble form promotes endothelial cell migration and filopodia formation during sprouting angiogenesis via a FAK-dependent mechanism.

Subcellular location. Cell membrane. Cell projection Secreted.

Tissue specificity. Detected on kidney podocytes along the glomerular capillary wall (at protein level).

Post-translational modifications. Proteolytic cleavage in the extracellular region generates a 210 kDa soluble form. Extensively N-glycosylated.

Disease relevance. Autoantibodies against THSD7A have been detected in serum and glomeruli from patients with idiopathic membranous nephropathy. The majority of the autoantibodies react with the two most N-terminal TSP type-1 domains.

Domain organisation. Sequence analysis combined with the expression of constructs corresponding each to two or three adjacent TSP type-1 domains suggests the presence of 21 TSP type-1 domains; not all of these are detected by standard bioinformatic tools.

RefSeq proteins (1): NP_056019* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000884	TSP1_rpt	Repeat
IPR036383	TSP1_rpt_sf	Homologous_superfamily
IPR044004	TSP1_spondin_dom	Domain
IPR051418	Spondin/Thrombospondin_T1	Family
IPR056991	TSP1_TSH7A-B_C	Domain

Pfam: PF00090, PF19028, PF19030, PF23308

UniProt features (98 total): disulfide bond 31, domain 19, glycosylation site 14, strand 9, sequence variant 5, helix 4, compositionally biased region 3, chain 2, region of interest 2, topological domain 2, sequence conflict 2, turn 2, signal peptide 1, coiled-coil region 1, transmembrane region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8OXR	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UPZ6-F1	67.57	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (31): 435–505, 455–509, 466–494, 635–677, 646–650, 689–694, 707–764, 728–768, 739–752, 772–814, 783–787, 824–830, 972–1028, 994–1032, 1005–1018, 1036–1073, 1047–1051, 1090–1094, 1213–1219, 1232–1279 …

Glycosylation sites (14): 234, 332, 450, 500, 679, 717, 968, 1043, 1182, 1225, 1276, 1366, 1500, 1547

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-5083635	Defective B3GALTL causes PpS
R-HSA-5173214	O-glycosylation of TSR domain-containing proteins
R-HSA-1643685	Disease
R-HSA-3781865	Diseases of glycosylation
R-HSA-3906995	Diseases associated with O-glycosylation of proteins
R-HSA-392499	Metabolism of proteins
R-HSA-5173105	O-linked glycosylation
R-HSA-5668914	Diseases of metabolism
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 230 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, VICENT_METASTASIS_UP, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOZGIT_ESR1_TARGETS_UP, JOSEPH_RESPONSE_TO_SODIUM_BUTYRATE_DN, CUI_TCF21_TARGETS_2_DN, BOQUEST_STEM_CELL_DN, MODULE_95, MODULE_47, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, SCHUETZ_BREAST_CANCER_DUCTAL_INVASIVE_UP, GOBP_TUBE_MORPHOGENESIS, SANA_TNF_SIGNALING_DN

GO Biological Process (3): angiogenesis (GO:0001525), actin cytoskeleton organization (GO:0030036), cell differentiation (GO:0030154)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): extracellular region (GO:0005576), plasma membrane (GO:0005886), cell projection (GO:0042995), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Diseases associated with O-glycosylation of proteins	1
O-linked glycosylation	1
Diseases of metabolism	1
Diseases of glycosylation	1
Post-translational protein modification	1
Disease	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
cytoskeleton organization	1
actin filament-based process	1
cellular developmental process	1
binding	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

636 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
THSD7A	PLA2R1	Q13018	912
THSD7A	NELL1	Q92832	764
THSD7A	SEMA3B	Q13214	713
THSD7A	EXT1	Q16394	712
THSD7A	KCMF1	Q9P0J7	618
THSD7A	EXT2	Q93063	611
THSD7A	PCDH7	O60245	477
THSD7A	SPMIP7	A4D263	457
THSD7A	TMEM179	Q6ZVK1	448
THSD7A	LRP2	P98164	434
THSD7A	CALR	P27797	426
THSD7A	NPHS1	O60500	423
THSD7A	MME	P08473	410
THSD7A	AKR1B1	P15121	405
THSD7A	Q5Y7H0	Q5Y7H0	396

IntAct

45 interactions, top by confidence:

A	B	Type	Score
THSD7A	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
THSD7A	SCN3B	psi-mi:“MI:0915”(physical association)	0.560
THSD7A	COMT	psi-mi:“MI:0915”(physical association)	0.560
SCN3B	THSD7A	psi-mi:“MI:0915”(physical association)	0.560
LHFPL1	THSD7A	psi-mi:“MI:0915”(physical association)	0.560
ARL13B	THSD7A	psi-mi:“MI:0915”(physical association)	0.560
THSD7A	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
ELOVL5	THSD7A	psi-mi:“MI:0915”(physical association)	0.560
TMUB2	THSD7A	psi-mi:“MI:0915”(physical association)	0.560
VMA21	THSD7A	psi-mi:“MI:0915”(physical association)	0.560
GOLM1	THSD7A	psi-mi:“MI:0915”(physical association)	0.560
HSD17B13	THSD7A	psi-mi:“MI:0915”(physical association)	0.560
COMT	THSD7A	psi-mi:“MI:0915”(physical association)	0.560
AQP6	THSD7A	psi-mi:“MI:0915”(physical association)	0.560
CD33	THSD7A	psi-mi:“MI:0915”(physical association)	0.560
THSD7A	RBMX	psi-mi:“MI:0915”(physical association)	0.400
THSD7A	SLC16A1	psi-mi:“MI:0915”(physical association)	0.400
THSD7A	ASAP2	psi-mi:“MI:0915”(physical association)	0.370
THSD7A	SKIL	psi-mi:“MI:0915”(physical association)	0.370
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
FHL3		psi-mi:“MI:0914”(association)	0.350
THSD7A	LHFPL1	psi-mi:“MI:0915”(physical association)	0.000
THSD7A	ARL13B	psi-mi:“MI:0915”(physical association)	0.000
THSD7A	LYVE1	psi-mi:“MI:0915”(physical association)	0.000
THSD7A	ELOVL5	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (28): ELOVL5 (Two-hybrid), AQP6 (Two-hybrid), COMT (Two-hybrid), CD33 (Two-hybrid), LYVE1 (Two-hybrid), GOLM1 (Two-hybrid), VMA21 (Two-hybrid), SCN3B (Two-hybrid), TMUB2 (Two-hybrid), ARL13B (Two-hybrid), HSD17B13 (Two-hybrid), LHFPL1 (Two-hybrid), THSD7A (Proximity Label-MS), THSD7A (Proximity Label-MS), THSD7A (Proximity Label-MS)

ESM2 similar proteins: A7MBS7, D3YXF5, F1LW30, O89103, P10643, P11680, P27918, P35446, P82987, P90884, Q29RQ1, Q2I0M5, Q2MKA7, Q3UPR9, Q3UTY6, Q4R7Z5, Q5M7L6, Q5RAD0, Q5RBP1, Q5RBP8, Q5UE90, Q64181, Q66PY1, Q69ZU6, Q6NZL8, Q6P4U0, Q6UXX9, Q6ZMP0, Q7T3Q2, Q7TSK7, Q80YN4, Q86TH1, Q8BFU0, Q8BJ73, Q8BLI0, Q8IUX8, Q8IWY4, Q8IX30, Q8N6G6, Q8VCC9

Diamond homologs: A7MBS7, B3EWY9, B3EWZ8, Q1RMU1, Q2MKA7, Q3UPR9, Q5R328, Q5R7Y0, Q69Z28, Q69ZU6, Q6P4U0, Q8BMS2, Q8IVN8, Q8TE57, Q9BUD6, Q9C0I4, Q9UPZ6, Q9WV75, Q9Z132, A8WGB1, B3EWZ3, C0HL12, C5IAW9, D3YXG0, D3ZTD8, F1LW30, G5ECS8, O08721, O08722, O08747, O14514, O15072, O60241, O60242, O95185, O95450, P07996, P10643, P11680, P27590

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	277
Likely benign	24
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

6028 predictions. Top by Δscore:

Variant	Effect	Δscore
7:11379107:T:TA	donor_gain	1.0000
7:11380974:A:C	acceptor_gain	1.0000
7:11382520:CCTG:C	donor_gain	1.0000
7:11406883:T:TA	donor_gain	1.0000
7:11411206:CCG:C	donor_gain	1.0000
7:11411323:C:CC	acceptor_gain	1.0000
7:11412627:A:C	donor_gain	1.0000
7:11412655:CCTG:C	donor_gain	1.0000
7:11412802:T:C	acceptor_gain	1.0000
7:11417599:TGCAT:T	acceptor_gain	1.0000
7:11417601:CAT:C	acceptor_gain	1.0000
7:11417602:ATC:A	acceptor_loss	1.0000
7:11417603:TC:T	acceptor_loss	1.0000
7:11417604:C:CC	acceptor_gain	1.0000
7:11417604:C:T	acceptor_loss	1.0000
7:11417605:T:C	acceptor_loss	1.0000
7:11426696:A:C	acceptor_gain	1.0000
7:11447228:A:AC	donor_gain	1.0000
7:11447229:C:CC	donor_gain	1.0000
7:11447290:TGG:T	donor_gain	1.0000
7:11447420:AATGG:A	acceptor_gain	1.0000
7:11447421:ATGG:A	acceptor_gain	1.0000
7:11447422:TGG:T	acceptor_gain	1.0000
7:11447422:TGGC:T	acceptor_loss	1.0000
7:11447423:GG:G	acceptor_gain	1.0000
7:11447423:GGC:G	acceptor_loss	1.0000
7:11447424:GC:G	acceptor_loss	1.0000
7:11447425:C:CC	acceptor_gain	1.0000
7:11447426:T:A	acceptor_loss	1.0000
7:11460691:T:TA	donor_gain	1.0000

AlphaMissense

10873 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:11424767:C:A	W1104C	1.000
7:11424767:C:G	W1104C	1.000
7:11428973:A:G	C1073R	1.000
7:11429007:C:A	W1061C	1.000
7:11429007:C:G	W1061C	1.000
7:11429017:C:G	R1058P	1.000
7:11429018:G:T	R1058S	1.000
7:11429058:C:A	W1044C	1.000
7:11429058:C:G	W1044C	1.000
7:11429060:A:G	W1044R	1.000
7:11429060:A:T	W1044R	1.000
7:11429067:C:A	W1041C	1.000
7:11429067:C:G	W1041C	1.000
7:11429069:A:G	W1041R	1.000
7:11429069:A:T	W1041R	1.000
7:11429082:G:C	C1036W	1.000
7:11429083:C:T	C1036Y	1.000
7:11429084:A:G	C1036R	1.000
7:11429107:C:T	C1028Y	1.000
7:11429108:A:G	C1028R	1.000
7:11460747:C:A	W840C	1.000
7:11460747:C:G	W840C	1.000
7:11469992:C:G	C752S	1.000
7:11469993:A:G	C752R	1.000
7:11469993:A:T	C752S	1.000
7:11474369:A:C	C739W	1.000
7:11474370:C:T	C739Y	1.000
7:11474371:A:G	C739R	1.000
7:11474489:C:A	W699C	1.000
7:11474489:C:G	W699C	1.000

dbSNP variants (sampled 300 via entrez): RS1000004359 (7:11609199 T>A), RS1000008953 (7:11607867 C>A), RS1000015254 (7:11501413 A>G), RS1000019637 (7:11404568 C>T), RS1000021959 (7:11720791 C>T), RS1000023098 (7:11572410 C>G), RS1000030685 (7:11488157 T>C), RS1000037616 (7:11468472 A>T), RS1000038572 (7:11481892 C>A), RS1000038922 (7:11733987 A>C), RS1000044154 (7:11393865 G>A), RS1000045691 (7:11803023 G>C), RS1000046715 (7:11431046 T>C,G), RS1000056606 (7:11824698 T>A), RS1000060078 (7:11666409 G>A)

Disease associations

OMIM: gene MIM:612249 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

29 associations (top):

Study	Trait	p-value
GCST001635_7	Tourette syndrome	6.000000e-06
GCST002814_1	Alzheimer’s disease (APOE e4 interaction)	4.000000e-06
GCST002831_7	Lead levels in blood	3.000000e-07
GCST003994_7	Age at voice drop	9.000000e-07
GCST004571_26	Iron status biomarkers (total iron binding capacity)	6.000000e-07
GCST004572_7	Iron status biomarkers (transferrin saturation)	6.000000e-07
GCST004728_2	Facial emotion recognition (angry faces)	2.000000e-06
GCST005582_3	Coronary artery disease	1.000000e-25
GCST005588_33	Idiopathic dilated cardiomyopathy	7.000000e-07
GCST006065_2	Glaucoma (primary open-angle)	1.000000e-10
GCST006138_17	Resting-state electroencephalogram vigilance	1.000000e-07
GCST006395_20	Glaucoma	4.000000e-12
GCST006412_63	Intraocular pressure	2.000000e-08
GCST007944_12	Medication use (antiglaucoma preparations and miotics)	7.000000e-09
GCST008103_12	Bipolar disorder	3.000000e-09
GCST008395_5	End-stage kidney disease	9.000000e-07
GCST008662_12	Lung function in never smokers (low FEV1 vs high FEV1)	4.000000e-07
GCST009267_9	Dental caries (decayed, missing and filled teeth)	3.000000e-06
GCST009524_129	Household income (MTAG)	4.000000e-08
GCST009725_93	Intraocular pressure	7.000000e-06
GCST009726_39	Glaucoma	2.000000e-09
GCST009963_6	Cataracts (operation)	4.000000e-08
GCST010002_343	Refractive error	4.000000e-08
GCST010426_6	Systolic blood pressure x educational attainment (some college) interaction (2df)	5.000000e-08
GCST010579_1	Response to antiepileptic mood-stabilizing treatment in bipolar disorder	7.000000e-09
GCST011438_21	Glaucoma (primary open-angle)	3.000000e-08
GCST011439_28	Glaucoma (primary open-angle)	3.000000e-08
GCST012465_32	Bipolar disorder	1.000000e-13
GCST90011770_8	Glaucoma (primary open-angle)	5.000000e-12

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0007659	APOE carrier status
EFO:0007888	age at voice drop
EFO:0006334	total iron binding capacity
EFO:0008329	facial emotion recognition measurement
EFO:0009094	idiopathic dilated cardiomyopathy
EFO:0004357	electroencephalogram measurement
EFO:0004695	intraocular pressure measurement
EFO:0009944	Antiglaucoma preparations and miotics use measurement
EFO:0004314	forced expiratory volume
EFO:0009695	household income
EFO:0004784	self reported educational attainment
EFO:0006335	systolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs7807369	THSD7A		0.00	0

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases expression	6
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases methylation, increases mutagenesis	4
Aflatoxin B1	affects methylation, decreases expression	3
mercuric bromide	affects cotreatment, increases expression	2
entinostat	affects cotreatment, decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Progesterone	affects cotreatment, increases expression	2
Tretinoin	decreases expression, increases expression	2
Cyclosporine	decreases expression, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
methylmercuric chloride	increases expression	1
methyleugenol	decreases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	affects cotreatment, increases methylation	1
trichostatin A	decreases expression, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
beryllium sulfate	increases expression, decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
cupric oxide	decreases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
2-amino-7-(4-fluoro-2-(6-methoxypyridin-2-yl)phenyl)-4-methyl-7,8-dihydropyrido(4,3-d)pyrimidin-5(6H)-one	increases expression, increases activity	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Diethylhexyl Phthalate	increases expression	1

Clinical trials (associated diseases)

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