THSD8

Summary

THSD8 (thrombospondin type 1 domain containing 8, HGNC:53785) is a protein-coding gene on chromosome 19p13.13, encoding Thrombospondin type-1 domain-containing protein 8 (A0A1W2PP97).

At a glance

• MANE Select transcript: NM_001386800

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53785
Approved symbol	THSD8
Name	thrombospondin type 1 domain containing 8
Location	19p13.13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000284491
Ensembl biotype	protein_coding
Entrez	111644133

Gene structure

Transcript identifiers

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

ENST00000639767, ENST00000639810, ENST00000643364

RefSeq mRNA: 1 — MANE Select: NM_001386800 NM_001386800

CCDS: CCDS92529

Canonical transcript exons

ENST00000639810 — 2 exons

Exon	Start	End
ENSE00003808205	12802069	12802219
ENSE00003826117	12804104	12804389

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 78.70.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0044 / max 3.3286, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
174027	0.0044	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.70	gold quality
left testis	UBERON:0004533	71.17	gold quality
testis	UBERON:0000473	70.93	gold quality
right testis	UBERON:0004534	70.29	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	67.65	silver quality
ganglionic eminence	UBERON:0004023	61.07	gold quality
apex of heart	UBERON:0002098	59.62	gold quality
cortical plate	UBERON:0005343	56.56	gold quality
cerebellum	UBERON:0002037	56.20	gold quality
cerebellar hemisphere	UBERON:0002245	56.12	gold quality
cerebellar cortex	UBERON:0002129	56.10	gold quality
nucleus accumbens	UBERON:0001882	55.64	gold quality
right hemisphere of cerebellum	UBERON:0014890	55.39	gold quality
ventricular zone	UBERON:0003053	55.10	gold quality
granulocyte	CL:0000094	54.93	gold quality
bone marrow cell	CL:0002092	54.92	gold quality
putamen	UBERON:0001874	54.86	gold quality
stromal cell of endometrium	CL:0002255	54.44	gold quality
prefrontal cortex	UBERON:0000451	54.12	gold quality
right adrenal gland cortex	UBERON:0035827	53.15	gold quality
skeletal muscle tissue	UBERON:0001134	52.82	gold quality
caudate nucleus	UBERON:0001873	51.93	gold quality
primary visual cortex	UBERON:0002436	51.91	gold quality
frontal cortex	UBERON:0001870	51.81	gold quality
Brodmann (1909) area 9	UBERON:0013540	51.26	gold quality
hindlimb stylopod muscle	UBERON:0004252	50.79	gold quality
right adrenal gland	UBERON:0001233	50.33	gold quality
brain	UBERON:0000955	50.31	gold quality
cerebral cortex	UBERON:0000956	50.30	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	49.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.03

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm49661	ENSMUSG00000111184

Protein

Protein identifiers

Thrombospondin type-1 domain-containing protein 8 — A0A1W2PP97 (reviewed: A0A1W2PP97)

All UniProt accessions (1): A0A1W2PP97

RefSeq proteins (1): NP_001373729* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000884	TSP1_rpt	Repeat
IPR036383	TSP1_rpt_sf	Homologous_superfamily

UniProt features (3 total): signal peptide 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1W2PP97-F1	64.86	0.07

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr19p13

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1W2PP97, A6NLX4, A6QNY1, P0DJK0, P12838, P13207, P22389, P22749, P23943, P29473, P29474, P55056, P70313, P79209, P97270, P98162, Q1RMT9, Q28969, Q2TAL6, Q2VPJ9, Q4TUC0, Q566C8, Q5BIR3, Q5JTB6, Q5NRP8, Q5RCS3, Q5SPX3, Q5XIX0, Q62600, Q64322, Q7TMJ8, Q7TPD7, Q7TSF4, Q80TT8, Q867D0, Q8BZT7, Q8C8N3, Q8K1T4, Q8K4Z2, Q8MJW9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1015 predictions. Top by Δscore:

Variant	Effect	Δscore
19:12807078:AG:A	donor_loss	1.0000
19:12807079:GG:G	donor_loss	1.0000
19:12807080:GTGA:G	donor_loss	1.0000
19:12807081:T:A	donor_loss	1.0000
19:12807325:GGGCG:G	donor_gain	1.0000
19:12807326:GGCGG:G	donor_gain	1.0000
19:12807415:ACAG:A	acceptor_gain	1.0000
19:12807417:A:AG	acceptor_gain	1.0000
19:12807417:AG:A	acceptor_gain	1.0000
19:12807418:G:GG	acceptor_gain	1.0000
19:12807418:GG:G	acceptor_gain	1.0000
19:12810060:T:TA	acceptor_gain	1.0000
19:12810063:T:TA	acceptor_gain	1.0000
19:12810065:T:TA	acceptor_gain	1.0000
19:12810066:G:A	acceptor_gain	1.0000
19:12810067:GCAGG:G	acceptor_loss	1.0000
19:12810069:A:AG	acceptor_gain	1.0000
19:12810069:AG:A	acceptor_gain	1.0000
19:12810070:G:GA	acceptor_gain	1.0000
19:12810070:GG:G	acceptor_gain	1.0000
19:12810070:GGT:G	acceptor_gain	1.0000
19:12810070:GGTA:G	acceptor_gain	1.0000
19:12810205:CAAG:C	donor_loss	1.0000
19:12810206:AAGG:A	donor_loss	1.0000
19:12810207:AGGTC:A	donor_loss	1.0000
19:12810208:GGTC:G	donor_loss	1.0000
19:12810209:G:A	donor_loss	1.0000
19:12810209:G:GG	donor_gain	1.0000
19:12810311:CCACA:C	acceptor_loss	1.0000
19:12810312:CACA:C	acceptor_loss	1.0000

AlphaMissense

726 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:12804132:G:C	W59C	0.993
19:12804132:G:T	W59C	0.993
19:12804141:G:C	W62C	0.987
19:12804141:G:T	W62C	0.987
19:12804173:G:C	R73P	0.978
19:12804139:T:A	W62R	0.975
19:12804139:T:C	W62R	0.975
19:12802191:G:C	W40C	0.974
19:12802191:G:T	W40C	0.974
19:12804179:G:C	R75P	0.972
19:12804130:T:A	W59R	0.971
19:12804130:T:C	W59R	0.971
19:12804145:T:C	C64R	0.971
19:12804247:T:A	C98S	0.966
19:12804248:G:C	C98S	0.966
19:12804147:T:G	C64W	0.965
19:12804247:T:C	C98R	0.965
19:12804178:C:A	R75S	0.964
19:12804249:C:G	C98W	0.964
19:12804151:T:A	C66S	0.960
19:12804152:G:C	C66S	0.960
19:12804145:T:A	C64S	0.959
19:12804146:G:C	C64S	0.959
19:12804248:G:A	C98Y	0.956
19:12804172:C:A	R73S	0.954
19:12804262:T:C	C103R	0.954
19:12804152:G:A	C66Y	0.950
19:12804294:G:C	W113C	0.949
19:12804294:G:T	W113C	0.949
19:12804264:T:G	C103W	0.944

dbSNP variants (sampled 300 via entrez): RS1000282096 (19:12804738 A>G), RS1000287165 (19:12803528 C>T), RS1000657412 (19:12803148 A>T), RS1001496176 (19:12804376 G>A), RS1001936952 (19:12804616 C>A), RS1002369514 (19:12804888 C>A,G,T), RS1002574924 (19:12803197 G>A), RS1002931061 (19:12802882 G>A,C,T), RS1003101785 (19:12801451 A>C), RS1003134178 (19:12801784 C>G,T), RS1003951585 (19:12802099 C>G,T), RS1004747572 (19:12802331 G>A,T), RS1004765009 (19:12802371 GGC>G), RS1004780112 (19:12802740 G>A,C), RS1006483936 (19:12801062 G>A)

Disease associations

OMIM: gene `` | 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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bufotalin	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Smoke	increases abundance, increases expression	1

Clinical trials (associated diseases)

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