ADAMTSL4 (ADAMTS like 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54507
Gene name Gene Name - the full gene name approved by the HGNC.
ADAMTS like 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADAMTSL4
Synonyms (NCBI Gene) Gene synonyms aliases
ADAMTSL-4, ECTOL2, TSRC1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ECTOL2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with divers
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs781691587 G>A Likely-pathogenic Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
miRTarBase ID miRNA Experiments Reference
MIRT023704 hsa-miR-1-3p Microarray 18668037
MIRT766873 hsa-miR-34a CLIP-seq
MIRT766874 hsa-miR-34c-5p CLIP-seq
MIRT766875 hsa-miR-449a CLIP-seq
MIRT766876 hsa-miR-449b CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 16364318
GO:0002064 Process Epithelial cell development IEA
GO:0004222 Function Metalloendopeptidase activity IBA 21873635
GO:0005515 Function Protein binding IPI 16189514, 16364318, 19060904, 23088713, 29758265
GO:0005614 Component Interstitial matrix IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610113 19706 ENSG00000143382
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q6UY14
Protein name ADAMTS-like protein 4 (ADAMTSL-4) (Thrombospondin repeat-containing protein 1)
Protein function Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00090 TSP_1 48 → 82 Thrombospondin type 1 domain Domain
PF05986 ADAM_spacer1 485 → 600 ADAM-TS Spacer 1 Family
PF19030 TSP1_ADAMTS 727 → 783 Domain
PF19030 TSP1_ADAMTS 786 → 841 Domain
PF19030 TSP1_ADAMTS 845 → 908 Domain
PF19030 TSP1_ADAMTS 914 → 970 Domain
PF19030 TSP1_ADAMTS 974 → 1025 Domain
PF08686 PLAC 1033 → 1063 PLAC (protease and lacunin) domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis and placenta. Weaker expression in bone marrow, brain tissue, kidney and pancreas. Expression studies in fetal tissues reveal strong expression in heart
Sequence 
MENWTGRPWLYLLLLLSLPQLCLDQEVLSGHSLQTPTEEGQGPEGVWGPWVQWASCSQPC
GVGVQRRSRTCQLPTVQLHPSLPLPPRPPRHPEALLPRGQGPRPQTSPETLPLYRTQSRG
RGGPLRGPASHLGREETQEIRAARRSRLRDPIKPGMFGYGRVPFALPLHRNRRHPRSPPR
SELSLISSRGEEAIPSPTPRAEPFSANGSPQTELPPTELSVHTPSPQAEPLSPETAQTEV
APRTRPAPLRHHPRAQASGTEPPSPTHSLGEGGFFRASPQPRRPSSQGWASPQVAGRRPD
PFPSVPRGRGQQGQGPWGTGGTPHGPRLEPDPQHPGAWLPLLSNGPHASSLWSLFAPSSP
IPRCSGESEQLRACSQAPCPPEQPDPRALQCAAFNSQEFMGQLYQWEPFTEVQGSQRCEL
NCRPRGFRFYVRHTEKVQDGTLCQPGAPDICVAGRCLSPGCDGILGSGRRPDGCGVCGGD
DSTCRLVSGNLTDRGGPLGYQKILWIPAGALRLQIAQLRPSSNYLALRGPGGRSIINGNW
AVDPPGSYRAGGTVFRYNRPPREEGKGESLSAEGPTTQPVDVYMIFQEENPGVFYQYVIS
SPPPILENPTPEPPVPQLQPEILRVEPPLAPAPRPARTPGTLQRQVRIPQMPAPPHPRTP
LGSPAAYWKRVGHSACSASCGKGVWRPIFLCISRESGEELDERSCAAGARPPASPEPCHG
TPCPPYWEAGEWTSCSRSCGPGTQHRQLQCRQEFGGGGSSVPPERCGHLPRPNITQSCQL
RLCGHWEVGSPWSQCSVRCGRGQRSRQVRCVGNNGDEVSEQECASGPPQPPSREACDMGP
CTTAWFHSDWSSKCSAECGTGIQRRSVVCLGSGAALGPGQGEAGAGTGQSCPTGSRPPDM
RACSLGPCERTWRWYTGPWGECSSECGSGTQRRDIICVSKLGTEFNVTSPSNCSHLPRPP
ALQPCQGQACQDRWFSTPWSPCSRSCQGGTQTREVQCLSTNQTLSTRCPPQLRPSRKRPC
NSQPCSQRPDDQCKDSSPHCPLVVQARLCVYPYYTATCCRSCAHVLERSPQDPS
Sequence length 1074
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Ectopia lentis Ectopia Lentis, Ectopia Lentis with Ectopia of Pupil, Familial ectopia lentis, ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE rs118203985, rs137854464, rs137854480, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689, rs747160538, rs397514558, rs397515793, rs757318536, rs781691587, rs363806 21051722, 20702823, 28642162, 20564469, 22871183, 22736615, 25975359
Hypertension Hypertensive disease rs13306026
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Ectopia Lentis ectopia lentis et pupillae GenCC
Isolated Ectopia Lentis isolated ectopia lentis GenCC
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Diabetes Diabetes GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining
Disease Name Relationship Type References
Burkitt Lymphoma Associate 36354023
Coronary Artery Dissection Spontaneous Associate 36103205
Ectopia Lentis Associate 19200529, 25053872, 37107549
Glioblastoma Associate 30728876
Loeys Dietz Syndrome Associate 36103205
Lymphatic Metastasis Associate 28107202
Microspherophakia Associate 40025527
Myopia Associate 29346494
Nasopharyngeal Carcinoma Associate 28107202
Neoplasm Metastasis Associate 28107202