Gene Gene information from NCBI Gene database.
Entrez ID 79875
Gene name Thrombospondin type 1 domain containing 4
Gene symbol THSD4
Synonyms (NCBI Gene)
AAT12ADAMTSL-6ADAMTSL6FVSY9334PRO34005
Chromosome 15
Chromosome location 15q23
miRNA miRNA information provided by mirtarbase database.
774
miRTarBase ID miRNA Experiments Reference
MIRT018224 hsa-miR-335-5p Microarray 18185580
MIRT483740 hsa-miR-4438 PAR-CLIP 23592263
MIRT483738 hsa-miR-4308 PAR-CLIP 23592263
MIRT483739 hsa-miR-4292 PAR-CLIP 23592263
MIRT483737 hsa-miR-6791-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0001527 Component Microfibril IEA
GO:0001527 Component Microfibril IMP 32855533
GO:0005201 Function Extracellular matrix structural constituent RCA 23979707, 25037231
GO:0005576 Component Extracellular region IEA
GO:0016787 Function Hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614476 25835 ENSG00000187720
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZMP0
Protein name Thrombospondin type-1 domain-containing protein 4 (A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6) (ADAMTS-like protein 6) (ADAMTSL-6)
Protein function Promotes FBN1 matrix assembly. Attenuates TGFB signaling, possibly by accelerating the sequestration of large latent complexes of TGFB or active TGFB by FBN1 microfibril assembly, thereby negatively regulating the expression of TGFB regulatory t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00090 TSP_1 57 94 Thrombospondin type 1 domain Domain
PF05986 ADAM_spacer1 412 528 ADAM-TS Spacer 1 Family
PF19030 TSP1_ADAMTS 621 676 Domain
PF19030 TSP1_ADAMTS 680 736 Domain
PF19030 TSP1_ADAMTS 739 793 Domain
PF19030 TSP1_ADAMTS 797 850 Domain
PF19030 TSP1_ADAMTS 856 912 Domain
PF19030 TSP1_ADAMTS 916 967 Domain
PF08686 PLAC 975 1005 PLAC (protease and lacunin) domain Domain
Sequence
MVSHFMGSLSVLCFLLLLGFQFVCPQPSTQHRKVPQRMAAEGAPEDDGGGGAPGVWGAWG
PWSACSRSCSGGVMEQTRPCLPRSYRLRGGQRPG
APARAFADHVVSAVRTSVPLHRSRDE
TPALAGTDASRQGPTVLRGSRHPQPQGLEVTGDRRSRTRGTIGPGKYGYGKAPYILPLQT
DTAHTPQRLRRQKLSSRHSRSQGASSARHGYSSPAHQVPQHGPLYQSDSGPRSGLQAAEA
PIYQLPLTHDQGYPAASSLFHSPETSNNHGVGTHGATQSFSQPARSTAISCIGAYRQYKL
CNTNVCPESSRSIREVQCASYNNKPFMGRFYEWEPFAEVKGNRKCELNCQAMGYRFYVRQ
AEKVIDGTPCDQNGTAICVSGQCKSIGCDDYLGSDKVVDKCGVCGGDNTGCQVVSGVFKH
ALTSLGYHRVVEIPEGATKINITEMYKSNNYLALRSRSGRSIINGNWAIDRPGKYEGGGT
MFTYKRPNEISSTAGESFLAEGPTNEILDVYMIHQQPNPGVHYEYVIM
GTNAISPQVPPH
RRPGEPFNGQMVTEGRSQEEGEQKGRNEEKEDLRGEAPEMFTSESAQTFPVRHPDRFSPH
RPDNLVPPAPQPPRRSRDHNWKQLGTTECSTTCGKGSQYPIFRCVHRSTHEEAPESYCDS
SMKPTPEEEPCNIFPC
PAFWDIGEWSECSKTCGLGMQHRQVLCRQVYANRSLTVQPYRCQ
HLEKPETTSTCQLKIC
SEWQIRTDWTSCSVPCGVGQRTRDVKCVSNIGDVVDDEECNMKL
RPNDIENCDMGPC
AKSWFLTEWSERCSAECGAGVRTRSVVCMTNHVSSLPLEGCGNNRPA
EATPCDNGPC
TGKVEWFAGSWSQCSIECGSGTQQREVICVRKNADTFEVLDPSECSFLEK
PPSQQSCHLKPC
GAKWFSTEWSMCSKSCQGGFRVREVRCLSDDMTLSNLCDPQLKPEERE
SCNPQDC
VPEVDENCKDKYYNCNVVVQARLCVYNYYKTACCASCTRVANRQTGFLGSR
Sequence length 1018
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  TGF-beta signaling pathway   Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Aortic aneurysm, familial thoracic 12 Pathogenic rs2140274801, rs2141129448, rs2140250054, rs2140288609 RCV002210954
RCV002210955
RCV002210956
RCV002210957
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection Likely pathogenic rs2052914931 RCV003486425
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 26830138
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic aneurysm Pubtator 34968759 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 32119686, 35368043 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder Autism Pubtator 34069769 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 33910530 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 21965014, 22461431, 24286382
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 28166215, 30804561
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASDB_DG 17463246
★☆☆☆☆
Found in Text Mining only
Lung Diseases Interstitial Lung disease Pubtator 40076669 Associate
★☆☆☆☆
Found in Text Mining only
Osteoporosis Osteoporosis BEFREE 18488137, 22957024
★☆☆☆☆
Found in Text Mining only