ASPN (asporin)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 54829
Gene name Asporin
Gene symbol ASPN
Synonyms (NCBI Gene)
OS3PLAP-1PLAP1SLRR1C
Chromosome 9
Chromosome location 9q22.31
Summary This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This pr
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT018748 hsa-miR-335-5p Microarray 18185580
MIRT023007 hsa-miR-124-3p Microarray 18668037
MIRT030089 hsa-miR-26b-5p Microarray 19088304
MIRT1937200 hsa-miR-3613-3p CLIP-seq
MIRT1937201 hsa-miR-371-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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Transcription factor Regulation Reference
SP1 Unknown 21528154
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IDA 19589127
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
GO:0030021 Function Extracellular matrix structural constituent conferring compression resistance RCA 20551380, 25037231, 27068509, 27559042, 28675934
GO:0030282 Process Bone mineralization IDA 19589127
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608135 14872 ENSG00000106819
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXN1
Protein name Asporin (Periodontal ligament-associated protein 1) (PLAP-1)
Protein function Negatively regulates periodontal ligament (PDL) differentiation and mineralization to ensure that the PDL is not ossified and to maintain homeostasis of the tooth-supporting system. Inhibits BMP2-induced cytodifferentiation of PDL cells by preve
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01462 LRRNT 74 → 101 Leucine rich repeat N-terminal domain Family
PF13855 LRR_8 103 → 162 Leucine rich repeat Repeat
PF13855 LRR_8 241 → 301 Leucine rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Higher levels in osteoarthritic articular cartilage, aorta, uterus. Moderate expression in small intestine, heart, liver, bladder, ovary, stomach, and in the adrenal, thyroid, and mammary glands. Low expression in trachea, bone marrow,
Sequence 
MKEYVLLLFLALCSAKPFFSPSHIALKNMMLKDMEDTDDDDDDDDDDDDDDEDNSLFPTR
EPRSHFFPFDLFPMCPFGCQCYSRVVHCSDLGLTSVPTNIPFDTRMLDLQNNKIKEIKEN
DFKGLTSLYGLILNNNKLTKIHPKAFLTTKKLRRLYLSHNQLSEIPLNLPKSLAELRIHE
NKVKKIQKDTFKGMNALHVLEMSANPLDNNGIEPGAFEGVTVFHIRIAEAKLTSVPKGLP
PTLLELHLDYNKISTVELEDFKRYKELQRLGLGNNKITDIENGSLANIPRVREIHLENNK
LKKIPSGLPELKYLQIIFLHSNSIARVGVNDFCPTVPKMKKSLYSAISLFNNPVKYWEMQ
PATFRCVLSRMSVQLGNFGM
Sequence length 380
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (8)
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
ANKYLOSING SPONDYLITIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASPN-related disorder Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL DISC DEGENERATIVE DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (56)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Arthritis Pubtator 28651521 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthropathy Arthropathy BEFREE 18336287
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 37967346 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 27409832 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Carpal Tunnel Syndrome Carpal tunnel syndrome Pubtator 37878141 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cartilage Diseases Cartilage disease Pubtator 17827158 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 27705916, 30728352
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 25755742, 30728352 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital Dysplasia Of The Hip Developmental dysplasia of the hip BEFREE 21329514, 28747338
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital torticollis Congenital Torticollis BEFREE 23819832
★★★★★
★☆☆☆☆
Found in Text Mining only