Details for: ADAMTS20

Gene ID: 80070

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: ADAMTS20

Ensembl ID: ENSG00000173157

Description: ADAM metallopeptidase with thrombospondin type 1 motif 20

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • retinal bipolar neuron CL0000748
    CSI 7.2
    rCSI 13.48%
    PRS 96.91
  • sst GABAergic cortical interneuron CL4023017
    CSI 5.59
    rCSI 7.21%
    PRS 96.98
  • neural crest cell CL0011012
    CSI 3.96
    rCSI 3.13%
    PRS 98.41
  • inhibitory interneuron CL0000498
    CSI 3.47
    rCSI 8.01%
    PRS 96.59
  • invaginating midget bipolar cell CL4033034
    CSI 3.24
    rCSI 19.11%
    PRS 94.99
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.95
    rCSI 3.67%
    PRS 96.08
  • amacrine cell CL0000561
    CSI 2.8
    rCSI 8.12%
    PRS 96.53
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 2.58
    rCSI 4.34%
    PRS 96.87
  • extravillous trophoblast CL0008036
    CSI 2.53
    rCSI 3.13%
    PRS 98.36
  • central nervous system neuron CL2000029
    CSI 0.49
    rCSI 3.6%
    PRS 96.87

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [ADAMTS20](/details-gene/80070) is a protein-coding gene located on chromosome 12q12 that encodes A Disintegrin and Metalloproteinase with Thrombospondin motifs 20. This enzyme is a member of the ADAMTS family of zinc-dependent metalloproteinases, which are known for their roles in processing extracellular matrix (ECM) components ([Link](https://doi.org/10.1074/jbc.m211900200)). Functional annotations indicate its involvement in [proteolysis](/details-go/GO:0006508), [extracellular matrix organization](/details-go/GO:0030198), and developmental processes such as [melanocyte differentiation](/details-go/GO:0030318). **Overall**, expression data reveals a highly specific enrichment of [ADAMTS20](/details-gene/80070) in the central nervous system, particularly within distinct neuronal subtypes like [retinal bipolar neuron](/details-cell/CL0000748)s and cortical inhibitory interneurons, suggesting a specialized function in neural circuit development, maintenance, or signaling. ## Cellular Roles and Expression Landscape The expression profile of [ADAMTS20](/details-gene/80070) demonstrates a pronounced and specific role within the nervous system. The gene shows the highest significance in specialized neuronal populations. **Overall**, it is a top marker for [retinal bipolar neuron](/details-cell/CL0000748)s (CSI: 7.20), which are critical for processing visual signals. Its significance extends to other retinal cells, such as [amacrine cell](/details-cell/CL0000561)s, further underscoring a key role in retinal biology. Beyond the retina, [ADAMTS20](/details-gene/80070) is highly significant in several classes of cortical GABAergic interneurons, including [sst GABAergic cortical interneuron](/details-cell/CL4023017)s (CSI: 5.59), [pvalb GABAergic cortical interneuron](/details-cell/CL4023018)s, and [lamp5 GABAergic cortical interneuron](/details-cell/CL4023011)s. This consistent enrichment across inhibitory neuron subtypes suggests a fundamental role in regulating inhibitory circuits within the cortex, possibly through modulation of the perineuronal net or other ECM structures. Additionally, high significance in [neural crest cell](/details-cell/CL0011012)s (CSI: 3.96) and [extravillous trophoblast](/details-cell/CL0008036)s points to a potential role in embryonic development, consistent with its function in tissue modeling and cell differentiation. The specificity of [ADAMTS20](/details-gene/80070) to these cell types suggests its function is tightly regulated and confined primarily to neuronal and developmental contexts. ## Pathways and Molecular Function Functionally, [ADAMTS20](/details-gene/80070) is annotated as a metalloenzyme with [metalloendopeptidase activity](/details-go/GO:0004222) and [zinc ion binding](/details-go/GO:0008270) capabilities. Its primary biological process is [proteolysis](/details-go/GO:0006508), directed at the [extracellular space](/details-go/GO:0005615), where it modifies the [collagen-containing extracellular matrix](/details-go/GO:0062023). This function is consistent with its structural characterization as a secreted proteinase with thrombospondin repeats, which mediate interactions with the ECM ([Link](https://doi.org/10.1074/jbc.m211009200)). The gene's involvement in [melanocyte differentiation](/details-go/GO:0030318) is particularly noteworthy and aligns with its high expression in [neural crest cell](/details-cell/CL0011012)s, the embryonic precursors of melanocytes. This suggests [ADAMTS20](/details-gene/80070) may cleave specific substrates required for the migration or maturation of melanocyte lineages during development. Reactome pathway analysis further highlights its role in post-translational protein modification, specifically [O-linked glycosylation](/details-reactome/R-HSA-5173105), which is common for secreted proteins and can influence their activity and stability. ## Research Directions The highly specific expression pattern of [ADAMTS20](/details-gene/80070) in distinct neuronal populations provides a strong foundation for targeted functional investigation. The data prompts several testable hypotheses regarding its role in neural function and disease. **Proposed Hypotheses:** 1. [ADAMTS20](/details-gene/80070) is essential for the formation and maintenance of synaptic connections in the inner plexiform layer of the retina by remodeling the local ECM, and its dysfunction may contribute to degenerative retinal diseases. 2. In the cerebral cortex, [ADAMTS20](/details-gene/80070) activity is required for the maturation and stability of perineuronal nets surrounding GABAergic interneurons, thereby regulating synaptic plasticity and network inhibition. Loss of function could lead to an excitatory/inhibitory imbalance implicated in conditions like epilepsy. **Experimental Approach:** To test the second hypothesis, a conditional knockout of [ADAMTS20](/details-gene/80070) could be generated in mice using a Cre-Lox system with a Cre driver specific to cortical interneurons (e.g., Pvalb-Cre or Sst-Cre). The cortical tissue from these mice could be analyzed using immunohistochemistry for perineuronal net markers like Wisteria floribunda agglutinin (WFA) to assess structural integrity. Electrophysiological recordings (e.g., patch-clamp) from cortical slices would be used to measure changes in inhibitory synaptic transmission and overall network excitability compared to wild-type littermates. **Therapeutic Potential:** As a secreted, extracellular enzyme, [ADAMTS20](/details-gene/80070) is a potentially accessible therapeutic target. Its highly restricted expression profile in the CNS suggests that systemic targeting might have a favorable safety profile with limited off-target effects in peripheral tissues. If overactivity of [ADAMTS20](/details-gene/80070) is linked to pathological ECM degradation in neurological or retinal disorders, developing specific inhibitors (e.g., monoclonal antibodies or small molecules) could be a viable therapeutic strategy. Conversely, if its deficiency underlies a disease state, strategies for localized enzyme replacement or gene therapy in the CNS could be explored, although this would present significant delivery challenges.

Genular Protein ID: 2076245226

Symbol: ATS20_HUMAN

Name: A disintegrin and metalloproteinase with thrombospondin motifs 20

UniProtKB Accession Codes:

P59510 A6NNC9 J3QT00

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 4 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 7 Ensembl 1 ExpressionAtlas 1 GO 12 Gene3D 4 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MEROPS 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 8 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 2 RefSeq 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 12514189

Title: Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1.

PubMed ID: 12514189

DOI: 10.1074/jbc.m211009200

PubMed ID: 12562771

Title: Identification and characterization of ADAMTS-20 defines a novel subfamily of metalloproteinases-disintegrins with multiple thrombospondin-1 repeats and a unique GON domain.

PubMed ID: 12562771

DOI: 10.1074/jbc.m211900200

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

Sequence Information:

  • Length: 1910
  • Mass: 214721
  • Checksum: D7FFCB0D56F4B6D9
  • Sequence:
    • MWVAKWLTGL LYHLSLFITR SWEVDFHPRQ EALVRTLTSY EVVIPERVNE FGEVFPQSHH 
FSRQKRSSEA LEPMPFRTHY RFTAYGQLFQ LNLTADASFL AAGYTEVHLG TPERGAWESD 
AGPSDLRHCF YRGQVNSQED YKAVVSLCGG LTGTFKGQNG EYFLEPIMKA DGNEYEDGHN 
KPHLIYRQDL NNSFLQTLKY CSVSESQIKE TSLPFHTYSN MNEDLNVMKE RVLGHTSKNV 
PLKDERRHSR KKRLISYPRY IEIMVTADAK VVSAHGSNLQ NYILTLMSIV ATIYKDPSIG 
NLIHIVVVKL VMIHREEEGP VINFDGATTL KNFCSWQQTQ NDLDDVHPSH HDTAVLITRE 
DICSSKEKCN MLGLSYLGTI CDPLQSCFIN EEKGLISAFT IAHELGHTLG VQHDDNPRCK 
EMKVTKYHVM APALSFHMSP WSWSNCSRKY VTEFLDTGYG ECLLDKPDEE IYNLPSELPG 
SRYDGNKQCE LAFGPGSQMC PHINICMHLW CTSTEKLHKG CFTQHVPPAD GTDCGPGMHC 
RHGLCVNKET ETRPVNGEWG PWEPYSSCSR TCGGGIESAT RRCNRPEPRN GGNYCVGRRM 
KFRSCNTDSC PKGTQDFREK QCSDFNGKHL DISGIPSNVR WLPRYSGIGT KDRCKLYCQV 
AGTNYFYLLK DMVEDGTPCG TETHDICVQG QCMAAGCDHV LNSSAKIDKC GVCGGDNSSC 
KTITGVFNSS HYGYNVVVKI PAGATNVDIR QYSYSGQPDD SYLALSDAEG NFLFNGNFLL 
STSKKEINVQ GTRTVIEYSG SNNAVERINS TNRQEKEILI EVLCVGNLYN PDVHYSFNIP 
LEERSDMFTW DPYGPWEGCT KMCQGLQRRN ITCIHKSDHS VVSDKECDHL PLPSFVTQSC 
NTDCELRWHV IGKSECSSQC GQGYRTLDIH CMKYSIHEGQ TVQVDDHYCG DQLKPPTQEL 
CHGNCVFTRW HYSEWSQCSR SCGGGERSRE SYCMNNFGHR LADNECQELS RVTRENCNEF 
SCPSWAASEW SECLVTCGKG TKQRQVWCQL NVDHLSDGFC NSSTKPESLS PCELHTCASW 
QVGPWGPCTT TCGHGYQMRD VKCVNELASA VLEDTECHEA SRPSDRQSCV LTPCSFISKL 
ETALLPTVLI KKMAQWRHGS WTPCSVSCGR GTQARYVSCR DALDRIADES YCAHLPRPAE 
IWDCFTPCGE WQAGDWSPCS ASCGHGKTTR QVLCMNYHQP IDENYCDPEV RPLMEQECSL 
AACPPAHSHF PSSPVQPSYY LSTNLPLTQK LEDNENQVVH PSVRGNQWRT GPWGSCSSSC 
SGGLQHRAVV CQDENGQSAS YCDAASKPPE LQQCGPGPCP QWNYGNWGEC SQTCGGGIKS 
RLVICQFPNG QILEDHNCEI VNKPPSVIQC HMHACPADVS WHQEPWTSCS ASCGKGRKYR 
EVFCIDQFQR KLEDTNCSQV QKPPTHKACR SVRCPSWKAN SWNECSVTCG SGVQQRDVYC 
RLKGVGQVVE EMCDQSTRPC SQRRCWSQDC VQHKGMERGR LNCSTSCERK DSHQRMECTD 
NQIRQVNEIV YNSSTISLTS KNCRNPPCNY IVVTADSSQC ANNCGFSYRQ RITYCTEIPS 
TKKHKLHRLR PIVYQECPVV PSSQVYQCIN SCLHLATWKV GKWSKCSVTC GIGIMKRQVK 
CITKHGLSSD LCLNHLKPGA QKKCYANDCK SFTTCKEIQV KNHIRKDGDY YLNIKGRIIK 
IYCADMYLEN PKEYLTLVQG EENFSEVYGF RLKNPYQCPF NGSRREDCEC DNGHLAAGYT 
VFSKIRIDLT SMQIKTTDLL FSKTIFGNAV PFATAGDCYS AFRCPQGQFS INLSGTGMKI 
SSTAKWLTQG SYTSVSIRRS EDGTRFFGKC GGYCGKCLPH MTTGLPIQVI