ASPN - asporin Gene

Homo sapiens

Also known as OS3; PLAP1; PLAP-1; SLRR1C

Gene ID: 54829 | Gene type: protein coding

About ASPN

Cytogenetic location: 9q22.31 Genomic coordinates (GRCh38): 9:92,456,205-92,482,506 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues, 22 paralogues and is associated with 2 phenotypes. Broad expression in gall bladder (RPKM 43.4), endometrium (RPKM 40.7) and 17 other tissues.

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 protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]

ASPN Products(2)

mRNA	Protein	Name
NM_001193335.3	NP_001180264.1	asporin isoform 2 precursor
NM_017680.6	NP_060150.4	asporin isoform 1 preproprotein

ASPN Protein Structure

LRRNT

LRR_8

0
100
200
300
380 a.a.

Protein Preferred Names

Protein Names

asporin

asporin (LRR class 1)

Recombinant ASPN Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72093	ASPN Protein, Human (His-SUMO)	Q9BXN1 (D33-M380)	≥95%

Related Diseases

Diseases

Alias

Intervertebral Disc Disease

Lumbar Disc Disease	Intervertebral Disc Disorder
IDD	Lumbar Disc Herniation
Lumbar Disc Degeneration	Intervertebral Disc Disease, Susceptibility To
Lumbar Disc Herniation, Susceptibility To	Lumbar Disc Disease, Susceptibility To
Intervertebral Disc Degeneration	Discogenic Disease
Discogenic Disorder	Disorder Of Intervertebral Disc
Intervertebral Disk Degeneration	Intervertebral Disk Disease
Ldd	Ldh
Lumbar Disc Degeneration, Susceptibility To	Degeneration Of Lumbar Intervertebral Disc
Intervertebral Disk Displacement

Osteoarthritis

Osteoarthrosis	Degenerative Joint Disease
Hypertrophic Arthritis	Arthropathy
Degenerative Polyarthritis	Degenerative Arthritis
Osteoarthrosis And Allied Disorder	Arthritis, Degenerative
Oa	Osteoarthritis Deformans
Osteoarthrosis Deformans	Kashin-Beck Disease

Congenital Disorder Of Glycosylation, Type Id

CDG1D	Congenital Disorder Of Glycosylation Id
Congenital Disorder Of Glycosylation 1d	Alg3-Cdg
Cdg Id	Cdgid
Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly	Cdgs4, Formerly
Cdgs, Type Iv, Formerly	Cdg Syndrome Type Id
Cdg-Id	Carbohydrate Deficient Glycoprotein Syndrome Type Id
Congenital Disorder Of Glycosylation Type 1d	Congenital Disorder Of Glycosylation Type Id
Mannosyltransferase 6 Deficiency	Carbohydrate-Deficient Glycoprotein Syndrome Type Iv
Cdgs4	Glycosylation, Congenital Disorder Of, Type Id

Torticollis

Contracture Of Neck	Wry Neck
Wry Neck/Torticollis

Acute Tympanitis

Acute Myringitis

Tooth Ankylosis

Ankylosis Of Teeth

Ankylosis Of Tooth

Hypochondrogenesis

Achondrogenesis Type Ii/Hypochondrogenesis

Noonan Syndrome 3

NS3	Noonan Syndrome, Type 3

Bone Deterioration Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70196	Endoproteinase Asp-N	Inhibitor	/	Unkown
HY-RS01105	ASPN Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ASPN	VGNC	VGNC:26222
Felis catus	ASPN	VGNC	VGNC:59979
Mus musculus	ASPN	MGD	MGI:1913945
Canis familiaris	ASPN	VGNC	VGNC:38190
Macaca mulatta	ASPN	VGNC	VGNC:70074
Rattus norvegicus	ASPN	RGD	RGD:1549776
Others	ASPN	NCBI

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