CleftGeneDB-Search

Gene: Adamts20

Basic information

Tag	Content
Uniprot ID	P59511; E9QLA1;
Entrez ID	223838
Genbank protein ID	AAO74896.1; AAO74895.1; CAD54808.3;
Genbank nucleotide ID	NM_177431.5
Ensembl protein ID	ENSMUSP00000121696; ENSMUSP00000036330;
Ensembl nucleotide ID	ENSMUSG00000022449
Gene name	A disintegrin and metalloproteinase with thrombospondin motifs 20
Gene symbol	Adamts20
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage
Data sources	Manually collected
Reference	21041365
Functional description	May play a role in tissue-remodeling process occurring in both normal and pathological conditions. May have a protease-independent function in the transport from the endoplasmic reticulum to the Golgi apparatus of secretory cargos, mediated by the GON domain.
Sequence	MRVAKWLTGL LCPISLLLTG SWEVRFHPRQ EALVKTLASY EVVTPTRVNE FGDVFPQNRH 60 FSRKKRSSGV PEPPPFRTHY RISAYGQLFQ LNLSADAAFL AAGYTEVHLG TPVPGPGGRS 120 TESPDLRHCF YRGQVNARED HTAVFSLCGG LMGTFKANDG EYFLEPVLRA DGSAHDDDHN 180 KPHLIYRQEL KRNSFARSHK PCEVSENQME KTALPSQSSR NTTGDVDIEE EAVFRLEGER 240 SQLHSRNKRF LSYPRYVEVM VTADAKMVHH HGQNLQHYVL TLMSIVAAIY KDSSIGNLIN 300 IVIVKLVVIH SEQEGPVISF NAATTLRNFC LWQQSQNVPD DAHPSHHDTA VLITREDICG 360 AKEKCDTLGL AELGTLCDPS RSCSISEENG LSAAFTIAHE LGHVFNVPHD DSFKCKEAGI 420 KHQYHVMAPT LNYHTSPWTW SACSQKHITE FLDTGHGECL LDKPNGRTYD LSPQLPGSVY 480 DGNRQCELMF GPGSQVCPYL KHCRRLWCTS AEGVHKGCRT QHMPLADGTS CGPGMHCHRG 540 LCVTRDMETR PVDGEWGPWG PYSSCSRTCG GGIKSTARLC DRPEPRNGGR YCVGRRMKFR 600 SCNTDSCPKG KRDFREKQCS DFDGKHFDIN GLPPNVRWLP KYSGIAVKDR CKLYCRVAGT 660 TSFYQLKDRV ADGTPCGTET NDICVQGLCR QAGCDHVLNS KAKRDKCGVC GGDNSSCQTL 720 AGVFNSAHYG YNVVVKIPAG ATNIEILQHS YSGRPEDDNY LALSDTQGNF LLNGNFVVSM 780 AKKEINIQGA VFEYSGSNNS IERINSTDRL EAELVLQVLC VGNLYNPDVR YSFNIPIEER 840 SNLFSWDPYG PWQDCTKMCQ GLHRRKIACV RKSDHAVVSD HNCGHLPMPL FVTEKCNMDC 900 ELRWHIIGKS DCSSQCGQGY RTLDVHCMKY SVHKGQAVPV GDQYCGDQLK PPSREPCHGS 960 CVLTRWHYSE WSQCSRSCGG GDKTRESYCV NGFGHRLAES ECRELPRVVL ENCNEFPCPS 1020 WATSEWSECP VTCGKGMKQR QVWCQLSEDP MRDGFCNAST KPESLRPCEL RACASWHVGP 1080 WGSCTATCGH GYQMRAVKCI SEIFGTMLDD RECPQASRPS DRQDCILAPC LAIPEVGATS 1140 LPAIPLGRAA QWRHGSWTPC SVSCGRGSQA RYVSCRDAHD EVADESNCAH LPRPAAVSLC 1200 FSPCGEWQAG DWSPCSASCG HGKTTRRVLC VNYHQLVDES YCDPEGRPVT EQECSLAACP 1260 PLYSRAPSSS EQPSHVPSRN VPLTHKPGEN QDQGAQLSIR GNQWRTGPWG ACSRSCAGGL 1320 QHRAVVCQDE DGRSATSCDG SSKPPESRHC GSGPCPHWNY GDWGECTQTC GGGVKSRFVI 1380 CQFPNGQMTQ EHSCELPKPP SMMQCHLHAC PEDVSWYRGP WKSCSASCGK GVKYREVLCI 1440 DQFQRKLEEK YCSHLHKPRT HKACRSGRCP SWKANKWKEC SVTCGSGVQQ REVYCRLRGT 1500 GRVSEDMCDP STRPQGQRQC WRQDCMRYQW TTGDWLDCST SCKKKETYRL VKCVNEQNVQ 1560 ANESLCDPLT KPLSIKKCRN PHCKYSVVTG DSSQCAGNCG FTSPQKITYC TKIQSSKKHT 1620 FHQLRPVVYG ECPVIPSPQA YKCDLRSCLH VATWKVGKWS KCSVTCGIGI MERRVACRTE 1680 NGWPSDLCLK RLKPDAQKKC YANDCKLLTT CKELQVTNNV TKDGDYDLNV RGRILKIHCS 1740 GMQLENPREY LPLVKSEDNF SEIYGLRLQN PYECPFNGSR RPDCACENDY LPAGYTVFSK 1800 VRVDLESMQI KTADLLFSQT LSGKAVPFAT AGDCYSAARC PQGQFSINLA GTGMKISNTA 1860 KWLAQGRYAS VIIHRSQDGT KVYGRCGGFC GKCIPHMATG LSIQVL 1906

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ADAMTS20	536137	E1B900		Bos taurus	Prediction	More>>
1:1 ortholog	ADAMTS20		A0A452GAZ8		Capra hircus	Prediction	More>>
1:1 ortholog	ADAMTS20	100054665	F6PZV0		Equus caballus	Prediction	More>>
1:1 ortholog	ADAMTS20	80070	P59510		Homo sapiens	Publication	More>>
1:1 ortholog	Adamts20	223838	P59511	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ADAMTS20		A0A2I3SSY2		Pan troglodytes	Prediction	More>>
1:1 ortholog	Adamts20		D3ZN23		Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
ADAMTS20	rs10785430	GWAS	25798845

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs236977222	p.Gly69Arg	missense variant	-	NC_000081.6:g.94403437C>T	UniProt
rs581889454	p.Pro116Leu	missense variant	-	NC_000081.6:g.94403295G>A	UniProt
rs221764297	p.Ala174Val	missense variant	-	NC_000081.6:g.94394707G>A	UniProt
rs250920178	p.Ser218Asn	missense variant	-	NC_000081.6:g.94379927C>T	UniProt
rs32119539	p.Thr222Arg	missense variant	-	NC_000081.6:g.94379915G>C	UniProt
rs1133911867	p.Pro339Leu	missense variant	-	NC_000081.6:g.94361801G>A	UniProt
rs212507928	p.His502Gln	missense variant	-	NC_000081.6:g.94349200G>C	UniProt
rs219945673	p.Asn882Ser	missense variant	-	NC_000081.6:g.94333662T>C	UniProt
rs234781537	p.Met898Ile	missense variant	-	NC_000081.6:g.94333613C>T	UniProt
rs251217797	p.Met898Thr	missense variant	-	NC_000081.6:g.94333614A>G	UniProt
rs33901954	p.Ile907Thr	missense variant	-	NC_000081.6:g.94331517A>G	UniProt
rs238259595	p.Val925Ile	missense variant	-	NC_000081.6:g.94331464C>T	UniProt
rs33901953	p.Asp982Glu	missense variant	-	NC_000081.6:g.94330619G>C	UniProt
rs235508777	p.Ser1000Ile	missense variant	-	NC_000081.6:g.94330566C>A	UniProt
rs263815693	p.Ser1000Arg	missense variant	-	NC_000081.6:g.94330567T>G	UniProt
rs218190254	p.Met1051Val	missense variant	-	NC_000081.6:g.94330014T>C	UniProt
rs33885830	p.Ala1074Thr	missense variant	-	NC_000081.6:g.94329945C>T	UniProt
rs250287344	p.Asp1124Gly	missense variant	-	NC_000081.6:g.94327845T>C	UniProt
rs33901942	p.Leu1127Phe	missense variant	-	NC_000081.6:g.94327835C>A	UniProt
rs224886024	p.Ala1128Val	missense variant	-	NC_000081.6:g.94327833G>A	UniProt
rs33901933	p.Val1182Met	missense variant	-	NC_000081.6:g.94326404C>T	UniProt
rs33901932	p.Ser1186Leu	missense variant	-	NC_000081.6:g.94326391G>A	UniProt
rs33901931	p.Asp1211Tyr	missense variant	-	NC_000081.6:g.94326317C>A	UniProt
rs33901929	p.Arg1227His	missense variant	-	NC_000081.6:g.94326166C>T	UniProt
rs236880462	p.Gln1252Arg	missense variant	-	NC_000081.6:g.94326091T>C	UniProt
rs107696218	p.Leu1262Ser	missense variant	-	NC_000081.6:g.94326061A>G	UniProt
rs262366701	p.Ala1266Thr	missense variant	-	NC_000081.6:g.94326050C>T	UniProt
rs224175246	p.Val1276Ile	missense variant	-	NC_000081.6:g.94326020C>T	UniProt
rs33901925	p.Asn1280His	missense variant	-	NC_000081.6:g.94326008T>G	UniProt
rs33901924	p.Ala1295Val	missense variant	-	NC_000081.6:g.94325962G>A	UniProt
rs218818126	p.Arg1300Lys	missense variant	-	NC_000081.6:g.94325947C>T	UniProt
rs238249390	p.Gly1318Ser	missense variant	-	NC_000081.6:g.94324803C>T	UniProt
rs263678232	p.Arg1333Gln	missense variant	-	NC_000081.6:g.94324757C>T	UniProt
rs1132910652	p.His1357Gln	missense variant	-	NC_000081.6:g.94324684G>T	UniProt
rs32108005	p.Lys1450Ile	missense variant	-	NC_000081.6:g.94291622T>A	UniProt
rs32104087	p.Arg1522His	missense variant	-	NC_000081.6:g.94286356C>T	UniProt
rs32104086	p.Arg1527Met	missense variant	-	NC_000081.6:g.94286341C>A	UniProt
rs221413860	p.Val1559Ile	missense variant	-	NC_000081.6:g.94285745C>T	UniProt
rs221938306	p.Lys1577Thr	missense variant	-	NC_000081.6:g.94285690T>G	UniProt
rs246502621	p.Ile1613Thr	missense variant	-	NC_000081.6:g.94283973A>G	UniProt
rs229165727	p.Val1627Ala	missense variant	-	NC_000081.6:g.94283931A>G	UniProt
rs263963128	p.Ala1640Val	missense variant	-	NC_000081.6:g.94283892G>A	UniProt
rs243673021	p.Val1720Ile	missense variant	-	NC_000081.6:g.94282701C>T	UniProt
rs252619247	p.Ala1793Ser	missense variant	-	NC_000081.6:g.94281943C>A	UniProt
rs585185625	p.Leu1815Phe	missense variant	-	NC_000081.6:g.94280078G>A	UniProt
rs32107256	p.Ser1902Pro	missense variant	-	NC_000081.6:g.94270317A>G	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004175	endopeptidase activity	IDA
GO:0004222	metalloendopeptidase activity	IDA
GO:0008270	zinc ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006508	proteolysis	IDA
GO:0009967	positive regulation of signal transduction	IMP
GO:0030198	extracellular matrix organization	IDA
GO:0043066	negative regulation of apoptotic process	IMP
GO:0045636	positive regulation of melanocyte differentiation	IGI
GO:0045636	positive regulation of melanocyte differentiation	IMP
GO:0048070	regulation of developmental pigmentation	IMP
GO:0048070	regulation of developmental pigmentation	IGI

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-392499	Metabolism of proteins	IEA
R-MMU-5173105	O-linked glycosylation	IEA
R-MMU-5173214	O-glycosylation of TSR domain-containing proteins	IEA
R-MMU-597592	Post-translational protein modification	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0165	Cleavage on pair of basic residues
KW-1015	Disulfide bond
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0378	Hydrolase
KW-0479	Metal-binding
KW-0482	Metalloprotease
KW-0645	Protease
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0732	Signal
KW-0862	Zinc
KW-0865	Zymogen

Interpro

InterPro ID	InterPro Term
IPR041645	ADAM_CR_2
IPR010294	ADAM_spacer1
IPR013273	ADAMTS/ADAMTS-like
IPR024079	MetalloPept_cat_dom_sf
IPR012314	Pept_M12B_GON-ADAMTSs
IPR001590	Peptidase_M12B
IPR002870	Peptidase_M12B_N
IPR000884	TSP1_rpt
IPR036383	TSP1_rpt_sf

PROSITE

PROSITE ID	PROSITE Term
PS50215	ADAM_MEPRO
PS51046	GON
PS50092	TSP1
PS00142	ZINC_PROTEASE

Pfam

Pfam ID	Pfam Term
PF17771	ADAM_CR_2
PF05986	ADAM_spacer1
PF08685	GON
PF01562	Pep_M12B_propep
PF01421	Reprolysin
PF00090	TSP_1

Gene: Adamts20

Basic information

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-miRNA interaction