Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9507
Gene name Gene Name - the full gene name approved by the HGNC.
ADAM metallopeptidase with thrombospondin type 1 motif 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADAMTS4
Synonyms (NCBI Gene) Gene synonyms aliases
ADAMTS-2, ADAMTS-4, ADMP-1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegr
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019411 hsa-miR-148b-3p Microarray 17612493
MIRT022022 hsa-miR-128-3p Microarray 17612493
MIRT504253 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT504252 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT504251 hsa-miR-3149 HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 10356395
GO:0002020 Function Protease binding IPI 14744861
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IDA 14744861
GO:0004222 Function Metalloendopeptidase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603876 220 ENSG00000158859
Protein
UniProt ID O75173
Protein name A disintegrin and metalloproteinase with thrombospondin motifs 4 (ADAM-TS 4) (ADAM-TS4) (ADAMTS-4) (EC 3.4.24.82) (ADMP-1) (Aggrecanase-1)
Protein function Cleaves aggrecan, a cartilage proteoglycan, at the '392-Glu-|-Ala-393' site and may be involved in its turnover (PubMed:10356395, PubMed:10827174). Also cleaves COMP (PubMed:39672391). May play an important role in the destruction of aggrecan in
PDB 2RJP , 3B2Z , 4WK7 , 4WKE , 4WKI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep 54 181 Reprolysin family propeptide Family
PF01421 Reprolysin 218 428 Reprolysin (M12B) family zinc metalloprotease Domain
PF17771 ADAM_CR_2 439 507 ADAM cysteine-rich domain Domain
PF00090 TSP_1 524 574 Thrombospondin type 1 domain Domain
PF05986 ADAM_spacer1 686 803 ADAM-TS Spacer 1 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, lung and heart (PubMed:23897278). Expressed at very low level in placenta and skeletal muscles (PubMed:23897278). Isoform 2: Detected in osteoarthritic synovium (PubMed:16723216, PubMed:23897278). {ECO:0000269|PubMe
Sequence
MSQTGSHPGRGLAGRWLWGAQPCLLLPIVPLSWLVWLLLLLLASLLPSARLASPLPREEE
IVFPEKLNGSVLPGSGAPARLLCRLQAFGETLLLELEQDSGVQVEGLTVQYLGQAPELLG
GAEPGTYLTGTINGDPESVASLHWDGGALLGVLQYRGAELHLQPLEGGTPNSAGGPGAHI
L
RRKSPASGQGPMCNVKAPLGSPSPRPRRAKRFASLSRFVETLVVADDKMAAFHGAGLKR
YLLTVMAAAAKAFKHPSIRNPVSLVVTRLVILGSGEEGPQVGPSAAQTLRSFCAWQRGLN
TPEDSDPDHFDTAILFTRQDLCGVSTCDTLGMADVGTVCDPARSCAIVEDDGLQSAFTAA
HELGHVFNMLHDNSKPCISLNGPLSTSRHVMAPVMAHVDPEEPWSPCSARFITDFLDNGY
GHCLLDKP
EAPLHLPVTFPGKDYDADRQCQLTFGPDSRHCPQLPPPCAALWCSGHLNGHA
MCQTKHSPWADGTPCGPAQACMGGRCL
HMDQLQDFNIPQAGGWGPWGPWGDCSRTCGGGV
QFSSRDCTRPVPRNGGKYCEGRRTRFRSCNTEDC
PTGSALTFREEQCAAYNHRTDLFKSF
PGPMDWVPRYTGVAPQDQCKLTCQAQALGYYYVLEPRVVDGTPCSPDSSSVCVQGRCIHA
GCDRIIGSKKKFDKCMVCGGDGSGCSKQSGSFRKFRYGYNNVVTIPAGATHILVRQQGNP
GHRSIYLALKLPDGSYALNGEYTLMPSPTDVVLPGAVSLRYSGATAASETLSGHGPLAQP
LTLQVLVAGNPQDTRLRYSFFVP
RPTPSTPRPTPQDWLHRRAQILEILRRRPWAGRK
Sequence length 837
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Degradation of the extracellular matrix
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Asthma Asthma N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Achondrogenesis type 2 Associate 29241192
Acute Aortic Syndrome Associate 28803253
Alzheimer Disease Associate 33152005
Amyotrophic Lateral Sclerosis Associate 26212797
Anterior Cruciate Ligament Injuries Associate 37919719
Aortic Aneurysm Thoracic Stimulate 23245439
Aortic Dissection Stimulate 23245439
Arthritis Psoriatic Associate 27706574
Arthritis Rheumatoid Associate 14534304, 15161923
Atherosclerosis Associate 21334453, 25592103, 36835545