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mutLBSgeneDB |
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| Gene summary for ADAMTS4 |
 Gene summary |
| Basic gene Info. | Gene symbol | ADAMTS4 |
| Gene name | ADAM metallopeptidase with thrombospondin type 1 motif, 4 | |
| Synonyms | ADAMTS-2|ADAMTS-4|ADMP-1 | |
| Cytomap | UCSC genome browser: 1q21-q23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005099.4, | |
| Description | A disintegrin and metalloproteinase with thrombospondin motifs 4ADAM-TS 4ADAM-TS4a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4aggrecanase-1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603876 | |
| HGNC : HGNC | ||
| HPRD : 04853 | ||
| Protein | UniProt: O75173 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ADAMTS4 | |
| BioGPS: 9507 | ||
| Pathway | NCI Pathway Interaction Database: ADAMTS4 | |
| KEGG: ADAMTS4 | ||
| REACTOME: ADAMTS4 | ||
| Pathway Commons: ADAMTS4 | ||
| Context | iHOP: ADAMTS4 | |
| ligand binding site mutation search in PubMed: ADAMTS4 | ||
| UCL Cancer Institute: ADAMTS4 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for ADAMTS4 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H371 | H371Q | COAD | 1 | L321 | G323V | HNSC | 1 | C423 | G421E | LUSC | 1 | E349 | E349V | OV | 1 | V390 | R388H | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for ADAMTS4 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | V390 | R388H | -1.1483055 | H371 | H371Q | -1.1070374 | L321 | G323V | -0.45644719 | E349 | E349V | -0.43886784 | C423 | G421E | -0.35649483 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for ADAMTS4 from PDB |
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| Differential gene expression and gene-gene network for ADAMTS4 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for ADAMTS4 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ADAMTS4 |
| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ADAMTS4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 2rjp | A | C423 | CA | CALCIUM(2+) | 2rjp | B | C423 | CA | CALCIUM(2+) | 2rjp | C | C423 | CA | CALCIUM(2+) | 2rjp | D | C423 | CA | CALCIUM(2+) | 3b2z | A | C423 | CA | CALCIUM(2+) | 3b2z | B | C423 | CA | CALCIUM(2+) | 3b2z | C | C423 | CA | CALCIUM(2+) | 3b2z | D | C423 | CA | CALCIUM(2+) | 3b2z | E | C423 | CA | CALCIUM(2+) | 3b2z | F | C423 | CA | CALCIUM(2+) | 3b2z | G | C423 | CA | CALCIUM(2+) | 3b2z | H | C423 | CA | CALCIUM(2+) | 4wk7 | A | C423 | CA | CALCIUM(2+) | 4wke | A | C423 | CA | CALCIUM(2+) | 4wki | A | C423 | ZN | ZINC(2+) | 2rjp | A | H371 | ZN | ZINC(2+) | 2rjp | B | H371 | ZN | ZINC(2+) | 2rjp | C | H371 | ZN | ZINC(2+) | 2rjp | D | H371 | ZN | ZINC(2+) | 3b2z | A | H371 | ZN | ZINC(2+) | 3b2z | B | H371 | ZN | ZINC(2+) | 3b2z | C | H371 | ZN | ZINC(2+) | 3b2z | D | H371 | ZN | ZINC(2+) | 3b2z | E | H371 | ZN | ZINC(2+) | 3b2z | F | H371 | ZN | ZINC(2+) | 3b2z | G | H371 | ZN | ZINC(2+) | 3b2z | H | H371 | ZN | ZINC(2+) | 4wk7 | A | H371 | ZN | ZINC(2+) | 4wke | A | H371 | ZN | ZINC(2+) | 4wki | A | H371 | 886 | N-({4'-[(4-ISOBUTYRYLPHENOXY)METHYL]BIPHENYL-4-YL}SULFONYL)-D-VALINE | 2rjp | A | H371 V390 | 886 | N-({4'-[(4-ISOBUTYRYLPHENOXY)METHYL]BIPHENYL-4-YL}SULFONYL)-D-VALINE | 2rjp | B | H371 V390 | 886 | N-({4'-[(4-ISOBUTYRYLPHENOXY)METHYL]BIPHENYL-4-YL}SULFONYL)-D-VALINE | 2rjp | C | H371 V390 | 886 | N-({4'-[(4-ISOBUTYRYLPHENOXY)METHYL]BIPHENYL-4-YL}SULFONYL)-D-VALINE | 2rjp | D | H371 V390 | 3PQ | 2-(4-CHLOROPHENOXY)-N-{[(4R)-4-METHYL-2,5- DIOXOIMIDAZOLIDIN-4-YL]METHYL}ACETAMIDE | 4wk7 | A | H371 V390 | 3PU | 5-CHLORO-N-{[(4R)-2,5-DIOXO-4-(1,3-THIAZOL-2-YL) IMIDAZOLIDIN-4-YL]METHYL}-1-BENZOFURAN-2-CARBOXAMIDE | 4wke | A | H371 V390 | 3PW | 5-CHLORO-N-{[(4S)-4-(1-METHYL-1H-IMIDAZOL-2-YL)-2,5- DIOXOIMIDAZOLIDIN-4-YL]METHYL}-1-BENZOFURAN-2- CARBOXAMIDE | 4wki | A | H371 V390 | CA | CALCIUM(2+) | 2rjp | A | L321 E349 | CA | CALCIUM(2+) | 2rjp | B | L321 E349 | CA | CALCIUM(2+) | 2rjp | C | L321 E349 | CA | CALCIUM(2+) | 2rjp | D | L321 E349 | CA | CALCIUM(2+) | 4wk7 | A | L321 E349 | CA | CALCIUM(2+) | 4wke | A | L321 E349 | CA | CALCIUM(2+) | 4wki | A | L321 E349 |
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| Conservation information for LBS of ADAMTS4 |
| Multiple alignments for O75173 in multiple species |
| LBS | AA sequence | # species | Species | A252 | AAAAKAFKHPS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | A392 | SRHVMAPVMAH | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C327 | CGVSTCDTLGM | 3 | Homo sapiens, Mus musculus, Bos taurus | C327 | CGVSTCDALGM | 1 | Rattus norvegicus | C423 | NGYGHCLLDKP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C423 | NGFGHCLLDKP | 1 | Bos taurus | D304 | LNTPEDSDPDH | 1 | Homo sapiens | D304 | LNTPNDSDPDH | 1 | Mus musculus | D304 | LNPPNDSDPDH | 1 | Rattus norvegicus | D304 | LNTPDDADPGH | 1 | Bos taurus | D306 | TPEDSDPDHFD | 1 | Homo sapiens | D306 | TPNDSDPDHFD | 1 | Mus musculus | D306 | PPNDSDPDHFD | 1 | Rattus norvegicus | D306 | TPDDADPGHFD | 1 | Bos taurus | D311 | DPDHFDTAILF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D311 | DPGHFDTAILF | 1 | Bos taurus | D320 | LFTRQDLCGVS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D328 | GVSTCDTLGMA | 3 | Homo sapiens, Mus musculus, Bos taurus | D328 | GVSTCDALGMA | 1 | Rattus norvegicus | D426 | GHCLLDKPEAP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E221 | LSRFVETLVVA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E349 | SCAIVEDDGLQ | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E362 | FTAAHELGHVF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F357 | GLQSAFTAAHE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G331 | TCDTLGMADVG | 3 | Homo sapiens, Mus musculus, Bos taurus | G331 | TCDALGMAGVG | 1 | Rattus norvegicus | H309 | DSDPDHFDTAI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H309 | DADPGHFDTAI | 1 | Bos taurus | H361 | AFTAAHELGHV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H365 | AHELGHVFNML | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H365 | AHELGHVFSML | 1 | Bos taurus | H371 | VFNMLHDNSKP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H371 | VFSMLHDNSKQ | 1 | Bos taurus | L321 | FTRQDLCGVST | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L330 | STCDTLGMADV | 3 | Homo sapiens, Mus musculus, Bos taurus | L330 | STCDALGMAGV | 1 | Rattus norvegicus | L424 | GYGHCLLDKPE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L424 | GFGHCLLDKPE | 1 | Bos taurus | M332 | CDTLGMADVGT | 3 | Homo sapiens, Mus musculus, Bos taurus | M332 | CDALGMAGVGT | 1 | Rattus norvegicus | M395 | VMAPVMAHVDP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | P393 | RHVMAPVMAHV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | P403 | VDPEEPWSPCS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T329 | VSTCDTLGMAD | 3 | Homo sapiens, Mus musculus, Bos taurus | T329 | VSTCDALGMAG | 1 | Rattus norvegicus | V390 | STSRHVMAPVM | 2 | Homo sapiens, Bos taurus | V390 | GSSRHVMAPVM | 1 | Mus musculus | V390 | SSSRHVMAPVM | 1 | Rattus norvegicus | V394 | HVMAPVMAHVD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V398 | PVMAHVDPEEP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus |
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