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ADAM30 (ADAM metallopeptidase domain 30)

Identity

Alias_namesa disintegrin and metalloproteinase domain 30
Alias_symbol (synonym)svph4
Other alias
HGNC (Hugo) ADAM30
LocusID (NCBI) 11085
Atlas_Id 60136
Location 1p12  [Link to chromosome band 1p12]
Location_base_pair Starts at 119893533 and ends at 119896524 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ADAM30   208
Cards
Entrez_Gene (NCBI)ADAM30  11085  ADAM metallopeptidase domain 30
Aliasessvph4
GeneCards (Weizmann)ADAM30
Ensembl hg19 (Hinxton)ENSG00000134249 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134249 [Gene_View]  chr1:119893533-119896524 [Contig_View]  ADAM30 [Vega]
ICGC DataPortalENSG00000134249
TCGA cBioPortalADAM30
AceView (NCBI)ADAM30
Genatlas (Paris)ADAM30
WikiGenes11085
SOURCE (Princeton)ADAM30
Genetics Home Reference (NIH)ADAM30
Genomic and cartography
GoldenPath hg38 (UCSC)ADAM30  -     chr1:119893533-119896524 -  1p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ADAM30  -     1p12   [Description]    (hg19-Feb_2009)
EnsemblADAM30 - 1p12 [CytoView hg19]  ADAM30 - 1p12 [CytoView hg38]
Mapping of homologs : NCBIADAM30 [Mapview hg19]  ADAM30 [Mapview hg38]
OMIM604779   
Gene and transcription
Genbank (Entrez)AF171932 AF171933 AK292483 AY358734 BC028372
RefSeq transcript (Entrez)NM_021794
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ADAM30
Cluster EST : UnigeneHs.283011 [ NCBI ]
CGAP (NCI)Hs.283011
Alternative Splicing GalleryENSG00000134249
Gene ExpressionADAM30 [ NCBI-GEO ]   ADAM30 [ EBI - ARRAY_EXPRESS ]   ADAM30 [ SEEK ]   ADAM30 [ MEM ]
Gene Expression Viewer (FireBrowse)ADAM30 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11085
GTEX Portal (Tissue expression)ADAM30
Human Protein AtlasENSG00000134249-ADAM30 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKF2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UKF2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKF2
Splice isoforms : SwissVarQ9UKF2
Catalytic activity : Enzyme3.4.24.- [ Enzyme-Expasy ]   3.4.24.-3.4.24.- [ IntEnz-EBI ]   3.4.24.- [ BRENDA ]   3.4.24.- [ KEGG ]   
PhosPhoSitePlusQ9UKF2
Domaine pattern : Prosite (Expaxy)ADAM_MEPRO (PS50215)    DISINTEGRIN_1 (PS00427)    DISINTEGRIN_2 (PS50214)    EGF_2 (PS01186)    EGF_3 (PS50026)   
Domains : Interpro (EBI)ADAM_Cys-rich    Disintegrin_CS    Disintegrin_dom    EGF-like_CS    EGF-like_dom    MetalloPept_cat_dom    Peptidase_M12B    Peptidase_M12B_N    Reprolysin_adamalysin   
Domain families : Pfam (Sanger)ADAM_CR (PF08516)    Disintegrin (PF00200)    Pep_M12B_propep (PF01562)    Reprolysin (PF01421)   
Domain families : Pfam (NCBI)pfam08516    pfam00200    pfam01562    pfam01421   
Domain families : Smart (EMBL)ACR (SM00608)  DISIN (SM00050)  
Conserved Domain (NCBI)ADAM30
DMDM Disease mutations11085
Blocks (Seattle)ADAM30
SuperfamilyQ9UKF2
Human Protein Atlas [tissue]ENSG00000134249-ADAM30 [tissue]
Peptide AtlasQ9UKF2
HPRD05307
IPIIPI00007515   IPI00215648   
Protein Interaction databases
DIP (DOE-UCLA)Q9UKF2
IntAct (EBI)Q9UKF2
FunCoupENSG00000134249
BioGRIDADAM30
STRING (EMBL)ADAM30
ZODIACADAM30
Ontologies - Pathways
QuickGOQ9UKF2
Ontology : AmiGOmetalloendopeptidase activity  plasma membrane  proteolysis  binding of sperm to zona pellucida  metallopeptidase activity  zinc ion binding  integral component of membrane  late endosome membrane  
Ontology : EGO-EBImetalloendopeptidase activity  plasma membrane  proteolysis  binding of sperm to zona pellucida  metallopeptidase activity  zinc ion binding  integral component of membrane  late endosome membrane  
NDEx NetworkADAM30
Atlas of Cancer Signalling NetworkADAM30
Wikipedia pathwaysADAM30
Orthology - Evolution
OrthoDB11085
GeneTree (enSembl)ENSG00000134249
Phylogenetic Trees/Animal Genes : TreeFamADAM30
HOVERGENQ9UKF2
HOGENOMQ9UKF2
Homologs : HomoloGeneADAM30
Homology/Alignments : Family Browser (UCSC)ADAM30
Gene fusions - Rearrangements
Fusion: Tumor Portal ADAM30
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerADAM30 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ADAM30
dbVarADAM30
ClinVarADAM30
1000_GenomesADAM30 
Exome Variant ServerADAM30
ExAC (Exome Aggregation Consortium)ENSG00000134249
GNOMAD BrowserENSG00000134249
Genetic variants : HAPMAP11085
Genomic Variants (DGV)ADAM30 [DGVbeta]
DECIPHERADAM30 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisADAM30 
Mutations
ICGC Data PortalADAM30 
TCGA Data PortalADAM30 
Broad Tumor PortalADAM30
OASIS PortalADAM30 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICADAM30  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDADAM30
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ADAM30
DgiDB (Drug Gene Interaction Database)ADAM30
DoCM (Curated mutations)ADAM30 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ADAM30 (select a term)
intoGenADAM30
Cancer3DADAM30(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604779   
Orphanet
MedgenADAM30
Genetic Testing Registry ADAM30
NextProtQ9UKF2 [Medical]
TSGene11085
GENETestsADAM30
Target ValidationADAM30
Huge Navigator ADAM30 [HugePedia]
snp3D : Map Gene to Disease11085
BioCentury BCIQADAM30
ClinGenADAM30
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11085
Chemical/Pharm GKB GenePA24525
Clinical trialADAM30
Miscellaneous
canSAR (ICR)ADAM30 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineADAM30
EVEXADAM30
GoPubMedADAM30
iHOPADAM30
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:37:03 CET 2017

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